Disorders: C

Disorders Alternate Names Genes Inheritance Pattern
Canavan Disease ACY2 deficiency, aminoacylase 2 deficiency, ASP deficiency, ASPA deficiency, aspartoacylase deficiency, Canavan-van Gogaert-Bertrand disease, spongy degeneration of central nervous system ASPA autosomal recessive
Carpenter Syndrome ACPS II, acrocephalopolysyndactyly type II RAB23 autosomal recessive
Cataracts 13, Congenital, in Adult i RBC Phenotype CTRCT13, GCNT2 GCNT2 autosomal recessive
Cataracts 34 cataract 34 multiple types with or without microcornea, CTRCT34 FOXE3 autosomal recessive
Cataracts 43 CTRCT43 UNC45B autosomal dominant
Cataracts 45 CTRCT45 SIPA1L3 autosomal recessive
Cataracts 46, Juvenile-Onset CTRCT46, juvenile cataract Hutterite type LEMD2 autosomal recessive
Cataracts, Anterior Polar 2 CTAA2 17p13 locus autosomal dominant
Cataracts, Anterior Polar with Guttata TMCO3 autosomal dominant
Cataracts, Ataxia, Short Stature, and Mental Retardation CASH syndrome Xpter-q13.1 locus X-linked recessive
Cataracts, Congenital Cerulean blue dot congenital cataract, CCA1, CCA2, CCA3, CCA4, CCA5 CCA5, CRYBB2, CRYGD, MAF autosomal dominant
Cataracts, Congenital Nuclear CATCN1, CATCN2, CATCN3 CRYBB1, CRYBB3 autosomal recessive
Cataracts, Congenital Sutural with Punctate and Cerulean Opacities CSPC CRYBB2 autosomal dominant
Cataracts, Congenital with Sclerocornea and Glaucoma Anterior Segment Dysgenesis 7, ASGD7 PXDN autosomal recessive
Cataracts, Congenital Zonular Pulverulent 1 CAE1, CTRCT1, CZP, CZP1, Duffy-linked cataract GJA8 autosomal dominant
Cataracts, Congenital Zonular Pulverulent 3 CZP3 GJA3 autosomal dominant
Cataracts, Congenital Zonular With Sutural Opacities CCZS CRYBA1 autosomal dominant
Cataracts, Congenital, and Hypomyelinating Leukodystrophy HCC, hypomyelination and congenital cataract FAM126A autosomal recessive
Cataracts, Congenital, Autosomal Dominant lens opacities BFSP2, GJA3, MIP, PAX6 autosomal dominant
Cataracts, Congenital, Autosomal Recessive 2 CATC2 FYCO1 autosomal recessive
Cataracts, Congenital, Autosomal Recessive 3 CATC3 1p34.3-p32.2 locus autosomal recessive
Cataracts, Congenital, Autosomal Recessive 4 CATC4 TDRD7 autosomal recessive
Cataracts, Congenital, Autosomal Recessive 5 CATC5 AGK autosomal recessive
Cataracts, Congenital, Deafness, Short Stature, Developmental Delay Ayme-Gripp syndrome MAF autosomal dominant
Cataracts, Congenital, Facial Dysmorphism, and Neuropathy CCFDN, congenital cataracts with facial dysmorphism and neuropathy CTDP1 autosomal recessive
Cataracts, Congenital, Intellectual Disability, Abnormal Striatum, and ADHD KCNA4 autosomal recessive
Cataracts, Congenital, Posterior Polar CTPA, CTPP, CTPP1, posterior polar cataract EPHA2 autosomal dominant
Cataracts, Congenital, Volkmann Type CCV, Volkmann type congenital cataract 1pter-p36.13 locus autosomal dominant
Cataracts, Congenital, with Brain Hemorrhage and Subependymal Calcification JAM3 autosomal recessive
Cataracts, Congenital, with Cleft Palate ? autosomal dominant
Cataracts, Congenital, with Intellectual Disability STX3 autosomal recessive
Cataracts, Congenital, With Short Stature and Minor Skeletal Anomalies BRD4 autosomal dominant
Cataracts, Congenital, X-Linked CCT, congenital total cataract with posterior sutural opacities in heterozygotes, CXN NHS X-linked recessive
Cataracts, Coppock-Like CCL, Coppock-like cataract CRYBB2, CRYGC, GJA3 autosomal dominant
Cataracts, CRYAA Mutations autosomal dominant cataract with microcornea, autosomal dominant nuclear cataract, autosomal dominant nuclear with iris coloboma, autosomal recessive congenital cataract 1, CATC1, CRYAA, crystallin alpha-1, zonular central nuclear cataract CRYAA autosomal dominant, autosomal recessive
Cataracts, Growth Hormone Deficiency, and Skeletal Dysplasia CAGSSS IARS2 autosomal recessive
Cataracts, Hearing Loss, and Neurodegeneration SLC33A1 autosomal recessive
Cataracts, Lamellar CAM, CTM, Marner cataract, perinuclear cataract, zonular cataract HSF4 autosomal dominant
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation CAVIPMR EMC1 autosomal recessive
Cerebral Amyloid Angiopathy familial Danish dementia, FDD ITM2B autosomal dominant
Cerebral Atrophy, Autosomal Recessive TMPRSS4 autosomal recessive
Cerebral Cavernous Malformations CAM, cavernous angiomatous malformations, CCM, cerebral capillary malformations, familial cavernous angioma CCM2/malcavernin, KRIT1, PDCD10 autosomal dominant
Cerebral Palsy, Spastic Quadriplegic, 3 CPSQ3 ADD3 autosomal recessive
Cerebrooculofacioskeletal Syndrome COFS syndrome, COFS1, CS II, optic atrophy, Pena-Shokeir syndrome, type II Cockayne syndrome ERCC6 autosomal recessive
Cerebrotendinous Xanthomatosis cerebral cholesterinosis, CTX CYP27A1 autosomal recessive
Charcot-Marie-Tooth Disease with Glaucoma Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma, CMT4B2 SBF2 autosomal recessive
Charcot-Marie-Tooth Disease(s) CMT multiple autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive
CHARGE Syndrome CHARGE association, Hall-Hittner syndrome, HHS CHD7, SEMA3E autosomal dominant
Chédiak-Higashi Syndrome CHS LYST autosomal recessive
Chondrodysplasia Punctata 2 CDPX2, CDPXD, Conradi-Hünermann syndrome, CPXD, Happle syndrome EBP X-linked dominant
CHOPS Syndrome CHOPS, cognitive impairment coarse facies heart defects obesity airway anomalies short stature and skeletal dysplasia syndrome AFF4 autosomal dominant
Chorioretinal dysplasia, lymphedema, and microcephaly lymphedema and retinal folds with microcephaly and microphthalmos, microcephaly with lymphedema and chorioretinal dysplasia syndrome KIF11 autosomal dominant
Chorioretinal dysplasia, microcephaly, and mental retardation chorioretinal dysplasia-microcephaly-mental retardation syndrome ? autosomal dominant
Chorioretinopathy with Microcephaly 1 chorioretinal dysplasia-microcephaly-mental retardation syndrome, MCCRP1, TUBGCP6 TUBGCP6 autosomal recessive
Chorioretinopathy with Microcephaly 2 MCCRP2 PLK4 autosomal recessive
Chorioretinopathy with Microcephaly 3 MCCRP3 TUBGCP4 autosomal recessive
Chorioretinopathy, Ataxia, and Hypogonadism BNHS, Boucher-Neuhauser syndrome PNPLA6 autosomal recessive?
Choroidal Dystrophy, Central Areolar CACD, CACD1, CACD2, CACD3, choroidal macular dystrophy, choroidal sclerosis PRPH2 autosomal dominant, autosomal recessive
Choroideremia choroidal sclerosis, tapetochoroidal dystrophy, TCD CHM X-linked recessive
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features CPRF KDM1A autosomal dominant
Coats Plus Syndrome cerebroretinal microangiopathy with calcifications and cysts, CRMCC CTC1 autosomal recessive
Cockayne Syndrome, Type A CKN1, CSI ERCC8 autosomal recessive
Cockayne Syndrome, Type B CKN2, CSII ERCC6 autosomal recessive
CODAS Syndrome cerebral ocular dental auricular skeletal anomalies syndrome LONP1 autosomal recessive
Cohen Syndrome COH1, Pepper syndrome COH1, VPS13B autosomal recessive
Cole-Carpenter Syndrome 1 bone fragility with craniosynostosis ocular proptosis hydrocephalus and distinctive facial features, CLCRP1 P4HB autosomal dominant
Cole-Carpenter Syndrome 2 CLCRP2 SEC24D autosomal recessive
Coloboma of the Optic Nerve morning glory disc, optic nerve pits PAX6 autosomal dominant
Coloboma, Isolated ocular coloboma, uveal coloboma, uveoretinal coloboma ABCB6, PAX6, SHH autosomal dominant
Coloboma, Microphthalmia, Albinism, and Deafness COMMAD MITF autosomal recessive?
Coloboma, Ptosis, Hypertelorism, and Global Delay Baraitser-Winter syndrome-1 ACTG1 autosomal dominant?
Color Blindness, Red-Green, Partial DCB, deutan color blindness, deuteranomaly, deuteranopia, green color blindness, protanomaly, protanopia, red color blindness OPN1LW, OPN1MW X-linked recessive
Colorblindness-Achromatopsia 2 ACHM2, RMCH2, rod monochromatism CNGA3 autosomal recessive
Colorblindness-Achromatopsia 3 ACHM3, achromatopsia with myopia, Pingelapese blindness, rod monochromatism CNGB3 autosomal recessive
Colorblindness-Achromatopsia 4 ACHM4, achromatopsia 4 GNAT2 autosomal recessive
Colorblindness-Achromatopsia 5 ACHM5, COD4, cone dystrophy 4 PDE6C autosomal recessive
Colorblindness-Tritanopia blue colorblindness, CBT, tritan colorblindness, tritanopic colorblindness OPN1SW autosomal dominant
Cone Dystrophy 3 COD3, cone-rod dystrophy 14, CORD14, retinal cone dystrophy GUCA1A (GCAP1) autosomal dominant
Cone Dystrophy, Peripheral ? autosomal recessive?
Cone-Rod Dystrophies, AD and AR Cone-rod dystrophy, CORD, CRD autosomal dominant, autosomal recessive
Cone-Rod Dystrophies, X-Linked COD1, CORDX1, CORDX2, CORDX3 CACNA1F, RPGR X-linked dominant, X-linked recessive
Cone-Rod Dystrophy With Decreased Male Fertility CORD19 TTLL5
Cone-Rod Dystrophy with Hearing Loss CRDHL CEPL78 autosomal recessive
Congenital Disorder of Glycosylation, Type Ia CDG Ia, CDGIa, Jaeken syndrome, phosphomannomutase 2 deficiency PMM2 autosomal recessive
Congenital Disorder of Glycosylation, Type Ij CDG-1j, CDG-Ij, DPAGT1-CDG (CDG-lj) DPAGT1 autosomal recessive
Congenital Disorder of Glycosylation, Type Iq carbohydrate-deficient glycoprotein syndrome, CDG syndrome, CDG1Q, CDGIq SRD5A3 autosomal recessive
Congenital Heart Defects, Dysmorphic Facies, and Intellectual Developmental Disorder CHDFIDD CDK13 autosomal dominant
Conjunctivitis, Ligneous dysplasminogenemia, plasminogen deficiency type I PLG autosomal recessive
Cornea Plana CNA 1, CNA 2 KERA autosomal dominant, autosomal recessive
Cornea, Ring Dermoid RDC, ring dermoid of cornea PITX2 autosomal dominant
Corneal Dystrophy, Avellino Type ACD, Avellino corneal dystrophy, CDA, combined granular-lattice corneal dystrophy, GCD2, granular corneal dystrophy TGFBI autosomal dominant
Corneal Dystrophy, Band-Shaped band keratopathy ? autosomal dominant?, autosomal recessive
Corneal Dystrophy, Congenital Endothelial 1 CHED1, congenital hereditary endothelial dystrophy, Maumenee corneal dystrophy 20p11.2-q11.2 locus autosomal dominant
Corneal Dystrophy, Congenital Endothelial 2 CHED2, congenital hereditary endothelial dystrophy of cornea, Maumenee corneal dystrophy SLC4A11 autosomal recessive
Corneal Dystrophy, Congenital Stromal congenital hereditary stromal dystrophy, congenital stromal corneal dystrophy, CSCD, Witschel dystrophy DCN autosomal dominant
Corneal Dystrophy, Endothelial X-Linked X-linked endothelial corneal dystrophy, XECD Xq25 locus X-linked dominant, X-linked recessive
Corneal Dystrophy, Epithelial Basement Membrane anterior basement membrane dystrophy, Cogan corneal dystrophy, EBMD, map-dot-fingerprint corneal dystrophy, microcystic corneal dystrophy TGFBI autosomal dominant
Corneal Dystrophy, Fleck fleck corneal dystrophy, Francois-Neetens fleck dystrophy (PIP5K3), PIKFYVE autosomal dominant
Corneal Dystrophy, Fuchs Endothelial, Early Onset early onset endothelial corneal dystrophy, FECD1 COL8A2 autosomal dominant
Corneal Dystrophy, Fuchs Endothelial, Late Onset FCD1, FECD2, late onset corneal endothelial dystrophy ZEB1 autosomal dominant
Corneal Dystrophy, Fuchs Endothelial, Late Onset 2 FCD2 locus, FECD3 TCF4 autosomal dominant
Corneal Dystrophy, Gelatinous Drop-like amyloid corneal dystrophy, CDGDL, corneal amyloidosis, GDLD, lattice corneal dystrophy type III M1S1 (TACSTD2) autosomal recessive
Corneal Dystrophy, Granular CDGG1, GCD1, granular corneal dystrophy type I, Groenouw type I, punctate or nodular corneal dystrophy TGFBI autosomal dominant
Corneal Dystrophy, Lattice Type I Biber-Haab-Dimmer dystrophy, CDL1, lattice corneal dystrophy, LCD, LCD1 TGFBI autosomal dominant
Corneal Dystrophy, Lattice Type II amyloidosis V, Finnish type amyloidosis, gelsolin amyloidosis, GSN lattice dystrophy, Meretoja type lattice corneal dystrophy GSN autosomal dominant
Corneal Dystrophy, Lisch Epithelial LECD, Lisch epithelial corneal dystrophy, whorled microcystic dystrophy None identified X-linked dominant
Corneal Dystrophy, Macular Fehr corneal dystrophy, Groenouw type II corneal dystrophy, MCDC1 CHST6 autosomal recessive
Corneal Dystrophy, Meesmann juvenile hereditary corneal dystrophy, MECD, Meesmann corneal dystrophy KRT12, KRT3 autosomal dominant
Corneal Dystrophy, Posterior Amorphous PACD, posterior amorphous corneal dystrophy, posterior amorphous stromal dystrophy 12q21.33 deletion autosomal dominant
Corneal Dystrophy, Posterior Polymorphous 1 posterior polymorphous corneal dystrophy 1, PPCD1 OVOL2 autosomal dominant
Corneal Dystrophy, Posterior Polymorphous 2 PPCD2 COL8A2 autosomal dominant
Corneal Dystrophy, Posterior Polymorphous 3 PPCD3 ZEB1 autosomal dominant
Corneal Dystrophy, Recurrent Epithelial Erosions epithelial recurrent erosion dystrophy, ERED, Franceschetti hereditary recurrent corneal erosion, hereditary corneal erosions, recurring corneal erosions ? autosomal dominant
Corneal Dystrophy, Reis-Bücklers CDB type I, corneal dystrophy of Bowman layer type I, GCD type III, geographic corneal dystrophy, RBCD, Reis-Bücklers corneal dystrophy, superficial granular corneal dystrophy TGFBI autosomal dominant
Corneal Dystrophy, Schnyder crystalline stromal dystrophy, SCD, Schnyder corneal dystrophy, Schnyder crystalline corneal dystrophy UBIAD1 autosomal dominant
Corneal Dystrophy, Stocker-Holt juvenile hereditary epithelial dystrophy KRT12 autosomal dominant
Corneal Dystrophy, Subepithelial Mucinous SMCD, subepithelial mucinous corneal dystrophy unknown autosomal dominant
Corneal Dystrophy, Thiel-Behnke CDB type II, CDB2, CDTB, corneal dystrophy of Bowman layer type II, honeycomb corneal dystrophy, TBCD, Thiel-Behnke corneal dystrophy TGFBI autosomal dominant
Cornelia de Lange Syndrome BDLS, Brachmann-de Lange syndrome, CDL, CDLS1, de Lange syndrome HDAC8, NIPBL, RAD21, SMC1A, SMC3 autosomal dominant, autosomal recessive, X-linked
Corpus Callosum Agenesis with Facial Anomalies and Cerebellar Ataxia Birk-Flusser syndrome, CCAFCA FRMD4A autosomal recessive
Cranial Dysinnervation Disorders with Strabismus and Arthrogryposis DA5, DA5D, distal arthrogryposis type 5D, oculomelic amyoplasia ECEL1, PIEZO2 autosomal dominant, autosomal recessive
Craniofacial-Deafness-Hand Syndrome CDHS PAX3 autosomal dominant
Crouzon Syndrome CFD1, craniofacial dysostosis type I, Crouzon craniofacial dysostosis FGFR2 autosomal dominant
Cryptophthalmos simple ankyloblepharon autosomal dominant
Cystinosis cystinosin defect, deficiency of lysosomal cystine transport protein CTNS autosomal recessive