List of genetic disorders explained

The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.

Most common

DisorderChromosomeMutation
Angelman syndrome15qDCP
Canavan disease17p
Charcot–Marie–Tooth disease17p12[1] Dup
Color blindnessXP
Cri du chat syndrome5D
Cystic fibrosis7qP
DiGeorge syndrome22qD
Down syndrome21C
Duchenne muscular dystrophyXpD
Familial hypercholesterolemia19P
Haemochromatosis type 16P
HemophiliaXP
Klinefelter syndromeXC
Neurofibromatosis17q/22q/?
Phenylketonuria12qP
Polycystic kidney disease16 (PKD1) or 4 (PKD2)P
Prader–Willi syndrome15qDCP
Scheuermann's disease1q21-q22 or 7q22
Sickle cell disease11pP
Spinal muscular atrophy5qDP
Tay–Sachs disease15qP
Turner syndromeXC

Full genetic disorders list

DisorderChromosome or geneTypeReferencePrevalence
1p36 deletion syndrome1Ddata-sort-value="7500" 1:7,500
1q21.1 deletion syndrome1q21.1D
2q37 deletion syndrome2q37D
5q deletion syndrome5qD
5,10-methenyltetrahydrofolate synthetase deficiencyMTHFS[2]
7p22.1 microduplication syndrome7p22.1
17q12 microdeletion syndrome17q12[3] [4] data-sort-value="14000" 1:14,000-62,500
17q12 microduplication syndrome17q12[5]
18p deletion syndrome18pDdata-sort-value="50000" 1:50,000
21-hydroxylase deficiency6p21.3recessivedata-sort-value="15000" 1:15,000
Alpha 1-antitrypsin deficiency14q32co-dominant,data-sort-value="2500" 1:2,500-5,000
AAA syndrome (achalasia–addisonianism–alacrima syndrome)AAASrecessive[6] data-sort-value="100000" 1:1,000,000
Aarskog–Scott syndromeFGD1X-linked recessivedata-sort-value="25000" 1:25,000
ABCD syndromeEDNRBrecessivedata-sort-value="18000" 1:18,000-20,000
Absence deformity of leg-cataract syndrome
AceruloplasminemiaCP (3p26.3)recessivedata-sort-value="2000000" 1:2,000,000
AcheiropodiaLMBR1recessive
Achondrogenesis type IICOL2A1 (12q13.11)dominantdata-sort-value="40000" 1:40,000-60,000
FGFR3 (4p16.3)dominantdata-sort-value="27,500" 1:27,500
HMBSdominant and recessive formsdata-sort-value="500" 1:500-50,000
ADSLrecessive
ABCD1 (X)recessivedata-sort-value="17000" 1:17,000
JAG1, NOTCH2dominant[7] data-sort-value="30000" 1:30,000-50,000
ADULT syndromeTP63dominant
Aicardi–Goutières syndromeTREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH1recessive data-sort-value="19500000" 1:19,500,000
data-sort-value="18000" 1:18,000-20,000
GFAPdominant data-sort-value="15600000" 1:15,600,000
Alfi's syndrome9pmonosomy1:50,000
HGDrecessive data-sort-value="250000" 1:250,000-1,000,000
10q26.13 COL4A3, COL4A4, and COL4A5data-sort-value="5000" 1:5,000-10,000
Alternating hemiplegia of childhoodATP1A3data-sort-value="1000000" 1:1,000,000
Aortic arch anomaly - peculiar facies - intellectual disabilitydominant
Amish lethal microcephalySLC25A19recessive
Amyotrophic lateral sclerosisFrontotemporal dementiaC9orf72, SOD1, FUS, TARDBP, CHCHD10, MAPTdata-sort-value="100000" 1:100,000
Angel-shaped phalango-epiphyseal dysplasiaGDF5dominant
ALMS1data-sort-value="8600000" 1:8,600,000
PSEN1, PSEN2, APP, APOEε4data-sort-value="177" 1:177
data-sort-value="14000" 1:14,000
Aminolevulinic acid dehydratase deficiency porphyriaALADdata-sort-value="780000000" 1:780,000,000
data-sort-value="20000" 1:20,000-50,000
UBE3Adata-sort-value="12000" 1:12,000-20,000
Aphalangy-syndactyly-microcephaly syndromedominant
Apert syndromeFGFR2data-sort-value="65000" 1:65,000-80,000
VPS33Bdata-sort-value="78000000" 1:78,000,000
ATMdata-sort-value="40000" 1:40,000-1,000,000
Axenfeld syndromePITX2, FOXO1A, FOXC1, PAX6data-sort-value="200000" 1:200,000
Bainbridge–Ropers syndromede novo
10q26, FGFR2data-sort-value="390000000" 1:390,000,000
Beckwith–Wiedemann syndromeIGF-2, CDKN1C, H19, KCNQ1OT1data-sort-value="15000" 1:15,000
data-sort-value="20000000" 1:20,000,000
BTDdata-sort-value="110000000" 1:110,000,000
Björnstad syndromeBCS1Ldata-sort-value="260000000" 1:260,000,000
Blepharophimosis intellectual disability syndromes
15q26.1data-sort-value="480000" 1:480,000
17 FLCNdata-sort-value="19500000" 1:19,500,000
Brody myopathyATP2A1data-sort-value="10000000" 1:10,000,000
Brunner syndromeMAOAdata-sort-value="500000000" 1:500,000,000
NOTCH3Pdata-sort-value="156000000" 1:156,000,000
Cat eye syndrome221:74,000
CATSHL syndromeFGFR3dominant/recessive[8]
CRASIL syndromeHTRA1data-sort-value="156000000" 1:156,000,000
data-sort-value="200000" 1:200,000
X 17q24.3–q25.1Cdata-sort-value="40000" 1:40,000-200,000
Camptodactyly-taurinuria syndromedominant
ASPAdata-sort-value="6400" 1:6,400-13,500
Carpenter syndromeRAB23data-sort-value="1000000" 1:1,000,000
CDKL5 deficiency disorderCDKL5[9] data-sort-value="40000" 1:40,000-60,000
Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome (CEDNIK) SNAP29data-sort-value="1000000" <1:1,000,000[10]
Cleft palate short stature vertebral anomalies syndrome
Combined malonic and methylmalonic aciduria (CMAMMA)ACSF3recessive[11] [12] 1:30,000
Combined malonic and methylmalonic aciduria (CMAMMA)MLYCDrecessive
Congenital muscular dystrophy-infantile cataract-hypogonadism syndromerecessive
CFTR (7q31.2)D or S[13] data-sort-value="100000" 1:100,000
PMP22, MFN2data-sort-value="2500" 1:2,500
CHD7data-sort-value="8500" 1:8,500-10,000
LYSTrecessivedata-sort-value="39000000" 1:39,000,000
Chondrodysplasia, Grebe typeGDF5autosomal recessive[14]
Cleidocranial dysostosisRUNX2data-sort-value="7800" 1:7,800
ERCC6, ERCC8data-sort-value="2600" 1:2,600-3,900
X RPS6KA3data-sort-value="40000" 1:40,000-50,000
COH1data-sort-value="7800000" 1:7,800,000
COL11A1, COL11A2, COL2A1
Congenital insensitivity to pain with anhidrosis (CIPA)NTRK1
Congenital muscular dystrophymultipledominant or recessive[15]
Corneal dystrophy-perceptive deafness syndromeSLC4A11autosomal recessive[16]
Cornelia de Lange syndrome (CDLS)HDAC8, SMC1A, NIPBL, SMA3, RAD211:10,000-30,000
Cowden syndromePTEN1:200,000
CPO deficiency (coproporphyria) CPOX
Cranio-lenticulo-sutural dysplasia14q13–q21
Cri du chat5p15.2 D[17] [18] data-sort-value="50000" 1:37,000-50,000
Crohn's disease16q12P
Crouzon syndromeFGFR2, FGFR31.6:100,000
Crouzonodermoskeletal syndrome (Crouzon syndrome with acanthosis nigricans) FGFR31:1,000,000
Currarino syndromeHLXB9dominant1:100,000
Darier's diseaseATP2A21:30,000-100,000
Dent's disease (Genetic hypercalciuria) Xp11.22 CLCN5, OCRL
Denys–Drash syndromeWT1
De Grouchy syndrome De Grouchy syndrome18qD
Dolichonychia
Down syndrome21C1:1,000-1,100
1:1,200 (U.S.)
DiGeorge syndrome22q11.2D1:4,000
Distal hereditary motor neuropathies, multiple types HSPB8, HSPB1, HSPB3, GARS, REEP1, IGHMBP2, SLC5A7, DCTN1, TRPV4, SIGMAR1
Distal muscular dystrophyDysferlin, TIA1, GNE (gene), MYH7, Titin, MYOT, MATR3, unknownDominant or recessive[19]
Duchenne muscular dystrophyDystrophinX-linked recessive[20]
Dravet syndromeSCN1A, SCN2A1:20,000-40,000
Ectrodactyly-polydactyly syndrome
Edwards syndrome18trisomy1:5,000
Ehlers–Danlos syndromeCOL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB, ADAMTS2, PLOD1, B4GALT7, DSEdominant1:5,000
Emanuel syndrome11, 22partial trisomy
Emery–Dreifuss syndromeEMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43
Epidermolysis bullosaKRT5, KRT14, DSP, PKP1, JUP, PLEC1, DST, EXPH5, TGM5, LAMA3, LAMB3, LAMC2, COL17A1, ITGA6, ITGA4, ITGA3, COL7A1, FERMT1dominant or recessive[21] [22] data-sort-value="90000" 11.08:1,000,000
Erythropoietic protoporphyriaFECH1:75,000-200,000
Fanconi anemia (FA)FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM, FANCN, FANCP, FANCS, RAD51C, XPF1:130,000
Fabry diseaseGLA (Xq22.1)P1:117,000-476,000
Factor V Leiden thrombophilia
Fatal familial insomniaPRNPdominant
Familial adenomatous polyposisAPC1:10,000-15,000
Familial dysautonomiaIKBKAP
Familial Creutzfeld–Jakob diseasePRNPdominant
Familial episodic pain syndromeTRPA1, SCN10A, SCN11Adominant
Familial thoracic aortic aneurysm and aortic dissectionFOXE3, SMAD2, LOX, MAT2A, ELN, HEY2, TGFB3, TGFBR1, TGFBR2, FBN1, ACTA2, MYLK, SMAD3, PRKG1, MFAP5, TGFB2, SMAD4, MYH11dominant
Feingold syndromeMYCN
FG syndromeMED12
Fibular aplasia-ectrodactyly syndromedominant
Fine-Lubinsky syndromeMAFrecessive
Fragile X syndromeFMR1T1:4,000 males1:8,000 females
Friedreich's ataxiaFXNT1:50,000 (U.S.)
G6PD deficiency
GalactosemiaGALT, GALK1, GALE
Gaucher diseaseGBA (1)1:20,000
Gerstmann–Sträussler–Scheinker syndromePRNPdominant
Gillespie syndromePAX6
Glutaric aciduria, type I and type 2GCDH, ETFA, ETFB, ETFDHrecessive
GRACILE syndromeBCS1L
GRIN2B-related neurodevelopmental disorder
Griscelli syndromeMYO5A, RAB27A, MLPH
Gustavson syndrome
Hailey–Hailey diseaseATP2C1 (3)
Harlequin type ichthyosisABCA12
Hemochromatosis type 1HFE (chromosome 6)recessive.1:200 (Northern Europe), 1:300 (Northern America)
Hemochromatosis type 2AHJV (or HFE2A) (chromosome 1)recessive
Hemochromatosis type 2BHAMP (or HFE2B) (chromosome 19)recessive
Haemochromatosis type 3TFR2 (or HFE3) (chromosome 7)recessive
Hemochromatosis type 4SLC40A1 (or HFE4) (chromosome 2)dominant
Hemochromatosis type 5FTH1 (chromosome 11)dominant
HemophiliaFVIII1:7,500 males (hemophilia A)1:40,000 males (hemophilia B)
Hepatoerythropoietic porphyriaUROD
Hereditary coproporphyria3q12P
Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome) ENG, ACVRL1, MADH4data-sort-value="5000" 1:5,000 [23]
Hereditary inclusion body myopathyGNE, MYHC2A, VCP, HNRPA2B1, HNRNPA1
Hereditary multiple exostosesEXT1, EXT2, EXT31:50,000
Hereditary spastic paraplegia (infantile-onset ascending hereditary spastic paralysis) AP4M1, AP4S1, AP4B1, AP4E1autosomal dominant, autosomal recessive or X-linked recessive2-6:100,000
Hermansky–Pudlak syndromeHPS1, HPS3, HPS4, HPS5, HPS6, HPS7, AP3B11:500,000
Hereditary neuropathy with liability to pressure palsies (HNPP) PMP22
HeterotaxyNODAL, NKX2-5, ZIC3, CCDC11, CFC1, SESN1
HomocystinuriaCBS (gene)recessive[24]
Huntington's diseasechromosome 4 HTT genedata-sort-value="10000" 1:10,000 in US
Hunter syndromeIDS1:100,000-150,000 males
Hurler syndromeIDUA1:100,000
Hutchinson–Gilford progeria syndromeLMNA1:18,000,000
HyperlysinemiaAASSrecessive
Hyperoxaluria, primaryAGXT, GRHPR, DHDPSL
Hyperphenylalaninemia12q
Hypoalphalipoproteinemia (Tangier disease)ABCA1
HypochondrogenesisCOL2A1
HypochondroplasiaFGFR3 (4p16.3)
Immunodeficiency–centromeric instability–facial anomalies syndrome (ICF syndrome) 20q11.2
Incontinentia pigmentiIKBKG (Xq28)P
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephalyMED17recessive
Ischiopatellar dysplasiaTBX4dominant
Isodicentric 1515q11–14Inv dupdata-sort-value="30000" 1:30,000 [25]
PRICKLE1-related progressive myoclonus epilepsy with ataxiaPRICKLE1dominant or recessive
Jackson–Weiss syndromeFGFR2
Jacobsen syndrome111:100,000
Joubert syndromeINPP5E, TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, TMEM138, TCTN3, ZNF423, AMRC9
Juvenile-onset dystoniaACTB, IMPDH2dominant
Juvenile primary lateral sclerosis (JPLS) ALS2
Keloid disorder
KIF1A-Associated neurological disorderKIF1A (2q37.3)Dominant negative
Kleefstra syndrome9q34D
Kniest dysplasiaCOL2A11:1,000,000
Kosaki overgrowth syndromePDGFRB
Krabbe diseaseGALC1:100,000
Kufor–Rakeb syndromeATP13A2
LCAT deficiencyLCAT
Lesch–Nyhan syndromeHPRT (X) 1:380,000
Li–Fraumeni syndromeTP53
Limb-Girdle Muscular DystrophyMultipledominant or recessive[26] [27] 1:14,500-123,000
Lynch syndromeMSH2, MLH1, MSH6, PMS2, PMS1, TGFBR2, MLH31:279
lipoprotein lipase deficiencyrecessive1:1,000,000
Malignant hyperthermiaRYR1 (19q13.2)dominant1:5,000-100,000
Maple syrup urine diseaseBCKDHA, BCKDHB, DBT, DLDrecessive
Marfan syndrome15q dominant1:5,000-10,000
Maroteaux–Lamy syndromeARSBrecessive1:43,261-1,505,160
McCune–Albright syndrome20 q13.2–13.31:100,000-1,000,000
McLeod syndromeXK (X)0.5-1:100,000
MEDNIK syndromeAP1S1D[28] [29]
Mediterranean fever, familialMEFV
Menkes diseaseATP7A (Xq21.1) 1:100,000-250,000
Methemoglobinemia
Methylmalonic acidemiaMMAA, MMAB, MMACHC, MMADHC, LMBRD1, MUTrecessive1:48,000
Micro syndromeRAB3GAP (2q21.3)
MicrocephalyASPM (1q31) P
Miller-Dieker syndrome17p13.3 D1:100,000
Morquio syndromeGALNS, GLB11:200,000-300,000
Mowat–Wilson syndromeZEB2 (2)
Muenke syndromeFGFR31:30,000
Multiple endocrine neoplasia type 1 (Wermer's syndrome) MEN1dominant
Multiple endocrine neoplasia type 2RETdominant
Muscular dystrophymultipleAR, AD, X-linked
Muscular dystrophy, Duchenne and Becker type
Myostatin-related muscle hypertrophyMSTN
Myotonic dystrophyDMPK, CNBPdominant or T1:8,000
Natowicz syndromeHYAL1<1:1,000,000
Neurofibromatosis type I17q11.2
Neurofibromatosis type IINF2 (22q12.2)
Niemann–Pick diseaseSMPD1, NPA, NPB, NPC1, NPC21:250,000 (types A and B)1:150,000 (type C)
Nonketotic hyperglycinemiaGLDC, AMT, GCSHrecessive1:60,000
Nonsyndromic deafness
Noonan syndromePTPN11, KRAS, SOS1, RAF1, NRAS, HRAS, BRAF, SHOC2, MAP2K1, MAP2K2, CBLdominant1:1,000
Norman–Roberts syndromeRELNrecessive
Ogden syndromeXP
Omenn syndromeRAG1, RAG2recessive
Osteogenesis imperfectaCOL1A1, COL1A2, IFITM5dominant1:15,000-20,000
Ostravik-Lindemann-Solberg syndrome2p15autosomal recessive[30]
Pantothenate kinase-associated neurodegenerationPANK2 (20p13–p12.3) recessive1-3:1,000,000
Patau syndrome (Trisomy 13) 13 trisomy
PCC deficiency (propionic acidemia) PCrecessive1:250,000
Porphyria cutanea tarda (PCT) URODdominant1:10,000
Pendred syndromePDS (7) recessive
Peutz–Jeghers syndromeSTK11dominant1:25,000-300,000
Pfeiffer syndromeFGFR1, FGFR2dominant1:100,000
Phelan-McDermid syndrome22q13 D
PhenylketonuriaPAHrecessive1:12,000
Pipecolic acidemiaAASDHPPTrecessive
Pitt–Hopkins syndromeTCF4 (18)dominant, de novo1:11,000-41,000
Polycystic kidney diseasePKD1 (16) or PKD2 (4)P
Polycystic ovary syndrome (PCOS)
Porphyria1-100:50,000
Prader–Willi syndrome15paternal imprinting1:10,000-30,000
Primary ciliary dyskinesia (PCD) DNAI1, DNAH5, TXNDC3, DNAH11, DNAI2, KTU, RSPH4A, RSPH9, LRRC50recessive1:32,000
Primary pulmonary hypertension
Protein C deficiencyPROCdominant[31] 1:20,000
Protein S deficiencyPROS1dominant
Proximal 18q deletion syndrome18qD
Pseudo-Gaucher disease
Pseudoxanthoma elasticumABCC6recessive1:25,000
Retinitis pigmentosaRP1, RP2, RPGR, PRPH2, IMPDH1, PRPF31, CRB1, PRPF8, TULP1, CA4, HPRPF3, ABCA4, EYS, CERKL, FSCN2, TOPORS, SNRNP200, PRCD, NR2E3, MERTK, USH2A, PROM1, KLHL7, CNGB1, TTC8, ARL6, DHDDS, BEST1, LRAT, SPARA7, CRXdominant or recessive1:4,000
Rett syndromeMECP2dominant, often de novo1:8,500 females
Roberts syndromeESCO2recessive
Rubinstein–Taybi syndrome (RSTS) CREBBPdominant1:125,000-300,000
Sandhoff diseaseHEXBrecessive
Sanfilippo syndromeSGSH, NAGLU, HGSNAT, GNS1:70,000
Scheuermann's disease1q21-q22 or 7q22autosomal dominant1:45
Schwartz–Jampel syndromeHSPG2recessive
Sjogren-Larsson syndromeALDH3A2Autosomal-recessivehttps://ghr.nlm.nih.gov/condition/sjogren-larsson-syndrome, https://onlinelibrary.wiley.com/doi/abs/10.1002/%28SICI%291098-1004%281998%2912%3A6%3C377%3A%3AAID-HUMU3%3E3.0.CO%3B2-I,https://www.socialstyrelsen.se/ovanligadiagnoser/sjogren-larssonssyndrom
Skin fragility-woolly hair-palmoplantar keratoderma syndromeDSP
Spondyloepiphyseal dysplasia congenita (SED) COL2A1dominant
Shprintzen–Goldberg syndromeFBN1dominant
Sickle cell anemia11p15P
Siderius X-linked mental retardation syndromePHF8X-Linked Recessive[32]
Sideroblastic anemiaABCB7, SLC25A38, GLRX5recessive
Sly syndromeGUSBrecessive1:250,000
Smith–Lemli–Opitz syndromeDHCR7recessive1:20,000-60,000
Smith–Magenis syndrome17p11.2dominant1:15,000-25,000
Snyder–Robinson syndromeXp21.3-p22.12recessive<1:1,000,000
Spinal muscular atrophy5q1:10,000
Spinocerebellar ataxia (types 1–29) ATXN1, ATXN2, ATXN3, PLEKHG4, SPTBN2, CACNA1A, ATXN7, ATXN8OS, ATXN10, TTBK2, PPP2R2B, KCNC3, PRKCG, ITPR1, TBP, KCND3, FGF14dominant, recessive or T
Split hand split foot-nystagmus syndromedominant
SSB syndrome (SADDAN) FGFR3dominant
Stargardt disease (macular degeneration)ABCA4, CNGB3, ELOVL4, PROM1dominant or recessive1-1.28:10,000
Stickler syndrome (multiple forms) COL11A1, COL11A2, COL2A1, COL9A1dominant or recessive1:7,500-9,000 (U.S.)
Strudwick syndrome (spondyloepimetaphyseal dysplasia, Strudwick type) COL2A1dominant
Tay–Sachs diseaseHEXA (15) recessive
Tetrahydrobiopterin deficiencyGCH1, PCBD1, PTS, QDPR, MTHFR, DHFRrecessive
Thanatophoric dysplasiaFGFR3dominant1:60,000
Thickened earlobes-conductive deafness syndrome
Treacher Collins syndrome5q32–q33.1 (TCOF1, POLR1C, or POLR1D)dominant1:50,000
Tuberous sclerosis complex (TSC)TSC1, TSC2dominant7-12:100,000
Turner syndromeXmonosomydata-sort-value="2000" 1:2,000-2,500 live female births
Usher syndromeMYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, DFNB31, CLRN1 recessive3-6:100,000 (type I)
Variegate porphyriaPPOXdominant
Viljoen-Kallis-Voges syndromerecessive
von Hippel–Lindau diseaseVHLdominant1:36,000
von Willebrand diseaseVWFdominant1:10,000
Waardenburg syndromePAX3, MITF, WS2B, WS2C, SNAI2, EDNRB, EDN3, SOX10dominant1:42,000
Warkany syndrome 28trisomy
Weissenbacher–Zweymüller syndromeCOL11A2recessive
Weyer's ulnar ray/oligodactyly syndromerecessive
Williams syndrome7q11.23dominantdata-sort-value="10000" 1:10,000
Wilson diseaseATP7Brecessive1:30,000
Woodhouse–Sakati syndromeC2ORF37 (2q22.3–q35) recessive
Wolf–Hirschhorn syndrome4p16.3dominant, often de novo1:50,000
Xeroderma pigmentosum15 ERCC4recessive
X-linked intellectual disability and macroorchidism (fragile X syndrome) X
X-linked spinal-bulbar muscle atrophy (spinal and bulbar muscular atrophy) X
Xp11.2 duplication syndromeXp11.2D[33] data-sort-value="1000000" 1:1,000,000
X-linked severe combined immunodeficiency (X-SCID) X
X-linked sideroblastic anemia (XLSA) ALAS2 (X)
47,XXX (triple X syndrome)XC1:1,000 females
XXXX syndrome (48, XXXX)X1:50,000 females
XXXXX syndrome (49,XXXXX) X1:85,000-250,000 females
XXXXY syndrome (49,XXXXY)X1:85,000-100,000 males
XYY syndrome (47,XYY)Y1:1,000 male births
XXYY syndrome (48,XXYY)X, Y1:18,000-40,000 males
XYYY syndrome (48,XYYY)Y
XXXY syndrome (48,XXXY)X1:50,000 males
XYYYY syndrome (49,XYYYY)Y1:1,000,000 males
Zellweger syndromePEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26recessive

Further reading

Notes and References

  1. Web site: OMIM Entry - # 118220 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A.
  2. Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, Walker MA, Eichler F, Rabinowitz JD, Anselm I, Berry GT . 6 . 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination . Molecular Genetics and Metabolism . 125 . 1–2 . 118–126 . September 2018 . 30031689 . 6557438 . 10.1016/j.ymgme.2018.06.006 .
  3. Book: Mitchel MW, Moreno-De-Luca D, Myers SM, Levy RV, Turner S, Ledbetter DH, Martin CL . 17q12 Recurrent Deletion Syndrome . 1993. GeneReviews® . Seattle (WA). University of Washington, Seattle. 27929632. 2021-02-16 . Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A .
  4. Roehlen N, Hilger H, Stock F, Gläser B, Guhl J, Schmitt-Graeff A, Seufert J, Laubner K . 6 . 17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5 . The Journal of Clinical Endocrinology and Metabolism . 103 . 10 . 3601–3610 . October 2018 . 30032214 . 10.1210/jc.2018-00955 . free .
  5. Wan S, Zheng Y, Dang Y, Song T, Chen B, Zhang J . Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities . Molecular Cytogenetics . 12 . 1 . 19 . 2019-05-17 . 31131025 . 6525371 . 10.1186/s13039-019-0431-7 . free .
  6. Web site: Ferry Jr RJ . Allgrove (AAA) Syndrome . Medscape . 15 June 2020 .
  7. Web site: Orphanet: Alagille syndrome . www.orpha.net. en. 2019-04-16.
  8. Web site: 2024-08-11 . Online Mendelian Inheritance in Man (OMIM) . 2024-08-11 . OMIM.
  9. Web site: CDKL5 deficiency disorder . MedlinePlus . 7 June 2021 .
  10. Web site: Orphanet: CEDNIK syndrome. 8 May 2021.
  11. NIH Intramural Sequencing Center Group . Sloan . Jennifer L . Johnston . Jennifer J . Manoli . Irini . Chandler . Randy J . Krause . Caitlin . Carrillo-Carrasco . Nuria . Chandrasekaran . Suma D . Sysol . Justin R . O'Brien . Kevin . Hauser . Natalie S . Sapp . Julie C . Dorward . Heidi M . Huizing . Marjan . Barshop . Bruce A . 2011 . Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria . Nature Genetics . en . 43 . 9 . 883–886 . 10.1038/ng.908 . 1061-4036 . 3163731 . 21841779.
  12. Alfares . A. . Nunez . L. D. . Al-Thihli . K. . Mitchell . J. . Melancon . S. . Anastasio . N. . Ha . K. C. H. . Majewski . J. . Rosenblatt . D. S. . Braverman . N. . 2011 . Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype . Journal of Medical Genetics . en . 48 . 9 . 602–605 . 10.1136/jmedgenet-2011-100230 . 21785126 . 19352176 . 0022-2593. free .
  13. Web site: FBR Model for Genetic TestsACCEGenetic TestingGenomicsCDC. www.cdc.gov. 2017-10-24.
  14. Langer LO, Cervenka J, Camargo M . A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type . Human Genetics . 81 . 4 . 323–8 . March 1989 . 2703235 . 10.1007/BF00283684 . 27942659 .
  15. Web site: Orphanet: Congenital muscular dystrophy . www.orpha.net. en. 2019-04-16.
  16. Web site: Corneal dystrophy and perceptive deafness - About the Disease - Genetic and Rare Diseases Information Center . 2022-08-03 . rarediseases.info.nih.gov . en . 2022-08-03 . https://web.archive.org/web/20220803120917/https://rarediseases.info.nih.gov/diseases/1529/corneal-dystrophy-and-perceptive-deafness/ . dead .
  17. Web site: History and Prevalence of Cri du Chat Syndrome . findresources . 15 June 2020 .
  18. Web site: OMIM Entry - # 123450 - Cri-Du-Chat Syndrome.
  19. News: Distal Myopathies - Types of Distal MD. 2015-12-18. Muscular Dystrophy Association. en. 2019-04-16.
  20. Web site: OMIM Entry - # 310200 - MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD. omim.org. en-us. 2019-04-16.
  21. Uitto J, Has C, Vahidnezhad H, Youssefian L, Bruckner-Tuderman L . Molecular pathology of the basement membrane zone in heritable blistering diseases:: The paradigm of epidermolysis bullosa . Matrix Biology . 57-58 . 76–85 . January 2017 . 27496350 . 10.1016/j.matbio.2016.07.009 .
  22. Fine JD . Epidemiology of Inherited Epidermolysis Bullosa Based on Incidence and Prevalence Estimates From the National Epidermolysis Bullosa Registry . JAMA Dermatology . 152 . 11 . 1231–1238 . November 2016 . 27463098 . 10.1001/jamadermatol.2016.2473 . free .
  23. Faughnan ME, Mager JJ, Hetts SW, Palda VA, Lang-Robertson K, Buscarini E, Deslandres E, Kasthuri RS, Lausman A, Poetker D, Ratjen F, Chesnutt MS, Clancy M, Whitehead KJ, Al-Samkari H, Chakinala M, Conrad M, Cortes D, Crocione C, Darling J, de Gussem E, Derksen C, Dupuis-Girod S, Foy P, Geisthoff U, Gossage JR, Hammill A, Heimdal K, Henderson K, Iyer VN, Kjeldsen AD, Komiyama M, Korenblatt K, McDonald J, McMahon J, McWilliams J, Meek ME, Mei-Zahav M, Olitsky S, Palmer S, Pantalone R, Piccirillo JF, Plahn B, Porteous ME, Post MC, Radovanovic I, Rochon PJ, Rodriguez-Lopez J, Sabba C, Serra M, Shovlin C, Sprecher D, White AJ, Winship I, Zarrabeitia R . 6 . Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia . Annals of Internal Medicine . 173 . 12 . 989–1001 . December 2020 . 32894695 . 10.7326/M20-1443 . 221542952 .
  24. Web site: OMIM Entry – # 236200 – Homocystinuria Due to Cystathionine Beta-Synthase Deficiency. omim.org. 2018-03-01.
  25. Chromosome imbalances associated with epilepsy. 10.1002/ajmg.1576. 2001. Schinzel. Albert. Niedrist. Dunja. American Journal of Medical Genetics. 106. 2. 119–124. 11579431.
  26. Web site: Orphanet: Autosomal recessive limb girdle muscular dystrophy . www.orpha.net. en. 2019-04-16.
  27. Web site: Orphanet: Autosomal dominant limb girdle muscular dystrophy . www.orpha.net. en. 2019-04-16.
  28. Web site: 'MEDNIK': A novel genetic syndrome. EurekAlert!. en. 2017-10-24.
  29. Web site: Hereditary disorder found in Que. families . 4 December 2008 . CTV News . https://web.archive.org/web/20081207001939/http://www.ctv.ca/servlet/ArticleNews/story/CTVNews/20081204/Mutated_Gene_081204/20081204?hub=Health . 2008-12-07 .
  30. Web site: OMIM Entry - # 217085 - CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY; CHDTHP . 2022-05-11 . omim.org . en-us.
  31. Web site: OMIM Entry – # 176860 – Thrombophilia Due to Protein C Deficiency, Autosomal Dominant; THPH3. omim.org. 2018-03-01.
  32. Web site: OMIM Entry - # 300263 - SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD. omim.org. 2019-04-16.
  33. Web site: OMIM Entry - # 300705 - CHROMOSOME Xp11.22 DUPLICATION SYNDROME. omim.org. 2019-04-16.