MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
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Anterior segment mesenchymal dysgenesis (C537775)
Parent Node:
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Craniofacial Abnormalities (D019465)
Parent Node:
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Diseases (C)
..Starting node
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CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME (OMIM:614195)

       Child Nodes:



 Sister Nodes: 
..expand3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA (OMIM:616271)
..expand3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)  LSDB  L: 00484;
..expand3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
..expandAARSKOG SYNDROME, AUTOSOMAL DOMINANT (OMIM:100050)
..expandABDOMINAL OBESITY-METABOLIC SYNDROME 1 (OMIM:605552)
..expandABDOMINAL OBESITY-METABOLIC SYNDROME 3 (OMIM:615812)
..expandACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
..expandALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
..expandANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
..expandAnimal Diseases (D000820) Child139
..expandARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
..expandASPLENIA, ISOLATED CONGENITAL (OMIM:271400)
..expandATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS (OMIM:108900)
..expandAXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
..expandAXENFELD-RIEGER SYNDROME, TYPE 2 (OMIM:601499)
..expandAXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
..expandB-CELL EXPANSION WITH NFKB AND T-CELL ANERGY (OMIM:616452)
..expandBacterial Infections and Mycoses (D001423) Child620
..expandBARAITSER-WINTER SYNDROME 1 (OMIM:243310)
..expandBARAITSER-WINTER SYNDROME 2 (OMIM:614583)
..expandBRACHYDACTYLY, TYPE E1 (OMIM:113300)
..expandBREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2 (OMIM:616001)
..expandCAPILLARY MALFORMATIONS, CONGENITAL (OMIM:163000)
..expandCardiovascular Diseases (D002318) Child1025  LSDB C:12
..expandCATEL-MANZKE SYNDROME (OMIM:616145)
..expandCEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
..expandCHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
..expandChemically-Induced Disorders (D064419) Child111  LSDB C:1
..expandCHROMOSOME 13q14 DELETION SYNDROME (OMIM:613884)
..expandCHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB (OMIM:136570)
..expandCHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
..expandCHROMOSOME 8q21.11 DELETION SYNDROME (OMIM:614230)
..expandCOENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)  LSDB  L: 00090;
..expandCOENZYME Q10 DEFICIENCY, PRIMARY, 2 (OMIM:614651)  LSDB  L: 00446;
..expandCOENZYME Q10 DEFICIENCY, PRIMARY, 3 (OMIM:614652)  LSDB  L: 00447;
..expandCOENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)  LSDB  L: 00443;
..expandCOENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)  LSDB  L: 00448;
..expandCOENZYME Q10 DEFICIENCY, PRIMARY, 6 (OMIM:614650)  LSDB  L: 00480;
..expandCOENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)  LSDB  L: 00639;
..expandCOENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)  LSDB  L: 00640;
..expandCongenital, Hereditary, and Neonatal Diseases and Abnormalities (D009358) Child4904  LSDB C:68
..expandCONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
..expandCOUSIN SYNDROME (OMIM:260660)
..expandCOWDEN SYNDROME 4 (OMIM:615107)
..expandCOWDEN SYNDROME 5 (OMIM:615108)
..expandCOWDEN SYNDROME 6 (OMIM:615109)
..expandCOWDEN SYNDROME 7 (OMIM:616858)
..expandCRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME (OMIM:614195)
..expandCUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
..expandCUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
..expandCUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
..expandCUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
..expandCUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
..expandCUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
..expandD-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 101 (OMIM:615837)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 18A (OMIM:602092)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 26, MODIFIER OF (OMIM:605429)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT;DFNB36 DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT, (OMIM:609006)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 8 (OMIM:601072)
..expandDigestive System Diseases (D004066) Child640  LSDB C:9
..expandDisorders of Environmental Origin (D007280) Child4
..expandDYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
..expandDYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
..expandDYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 (OMIM:616553)
..expandDYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 (OMIM:613987)
..expandDYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 (OMIM:613988)
..expandDYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 (OMIM:615190)
..expandDYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 (OMIM:616353)
..expandECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
..expandECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE (OMIM:225100)
..expandEHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 (OMIM:614557)
..expandEndocrine System Diseases (D004700) Child742  LSDB C:3
..expandEye Diseases (D005128) Child1278  LSDB C:19
..expandFemale Urogenital Diseases and Pregnancy Complications (D005261) Child962  LSDB C:4
..expandGLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
..expandGOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS (OMIM:138800)
..expandGREENBERG DYSPLASIA (OMIM:215140)
..expandHemic and Lymphatic Diseases (D006425) Child790  LSDB C:1
..expandHYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
..expandHYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280)
..expandHYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
..expandHYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
..expandHYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
..expandHYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE (OMIM:145250)
..expandHYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY (OMIM:240900)
..expandHYPOTRICHOSIS 2 (OMIM:146520)
..expandHYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
..expandImmune System Diseases (D007154) Child597  LSDB C:2
..expandIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
..expandIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
..expandIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
..expandIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 (OMIM:616911)
..expandKERATOSIS PILARIS ATROPHICANS (OMIM:604093)
..expandKLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:613702)
..expandL-FERRITIN DEFICIENCY (OMIM:615604)
..expandLISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
..expandLOEYS-DIETZ SYNDROME 2 (OMIM:610168)
..expandMACULAR DEGENERATION, X-LINKED ATROPHIC (OMIM:300834)
..expandMale Urogenital Diseases (D052801) Child765  LSDB C:4
..expandMAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME (OMIM:277000)
..expandMEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
..expandMEGALOBLASTIC ANEMIA 1 (OMIM:261100)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10 (OMIM:615848)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 (OMIM:155601)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 (OMIM:609048)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4 (OMIM:608035)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 (OMIM:613099)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6 (OMIM:613972)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7 (OMIM:612263)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 (OMIM:614456)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 (OMIM:615134)
..expandMental Disorders (D001523) Child1080  LSDB C:11
..expandMENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
..expandMETHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT (OMIM:613646)
..expandMICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
..expandMICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
..expandMICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
..expandMICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA (OMIM:251750)
..expandMITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)  LSDB  L: 00017;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)  LSDB  L: 00026;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)  LSDB  L: 00030;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)  LSDB  L: 00033;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)  LSDB  L: 00036;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)  LSDB  L: 00038;
..expandMUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
..expandMUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
..expandMULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
..expandMULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
..expandMULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)  LSDB  L: 00044;
..expandMULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
..expandMULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
..expandMusculoskeletal Diseases (D009140) Child2320  LSDB C:37
..expandMYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (OMIM:607948)
..expandMYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 1 (OMIM:607949)
..expandMYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2 (OMIM:611046)
..expandMYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 3 (OMIM:612929)
..expandMYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED (OMIM:300259)
..expandMYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY (OMIM:615511)
..expandMYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED (OMIM:613869)
..expandMYOPATHY, SPHEROID BODY (OMIM:182920)
..expandMYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES (OMIM:616231)
..expandNAIL DISORDER, NONSYNDROMIC CONGENITAL, 3 (OMIM:151600)
..expandNEMALINE MYOPATHY 3;NEM3 MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, (OMIM:161800)
..expandNeoplasms (D009369) Child1125  LSDB C:1
..expandNEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
..expandNervous System Diseases (D009422) Child3641  LSDB C:86
..expandNESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
..expandNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
..expandNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)  LSDB  L: 00422;
..expandNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
..expandNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
..expandNOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 (OMIM:607721)
..expandNOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
..expandNutritional and Metabolic Diseases (D009750) Child1518  LSDB C:92
..expandOccupational Diseases (D009784) Child28
..expandOGDEN SYNDROME (OMIM:300855)
..expandOtorhinolaryngologic Diseases (D010038) Child602  LSDB C:11
..expandOTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
..expandPALMOPLANTAR KERATODERMA AND WOOLLY HAIR (OMIM:616099)
..expandPALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 (OMIM:613000)
..expandPALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2 (OMIM:616400)
..expandPALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE (OMIM:615735)
..expandParasitic Diseases (D010272) Child178
..expandPathological Conditions, Signs and Symptoms (D013568) Child3149  LSDB C:40
..expandPITT-HOPKINS-LIKE SYNDROME 2 (OMIM:614325)
..expandPOLYDACTYLY, PREAXIAL II (OMIM:174500)
..expandPONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
..expandPONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
..expandPONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
..expandPONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
..expandPONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
..expandPONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
..expandPONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
..expandPONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
..expandPONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
..expandPONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
..expandPROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA (OMIM:113900)
..expandPSEUDO-TORCH SYNDROME 1 (OMIM:251290)
..expandPSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
..expandRENAL TUBULAR DYSGENESIS (OMIM:267430)
..expandRespiratory Tract Diseases (D012140) Child422
..expandSCAPULOPERONEAL MYOPATHY, MYH7-RELATED (OMIM:181430)
..expandSHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS (OMIM:165800)
..expandSkin and Connective Tissue Diseases (D017437) Child1491  LSDB C:2
..expandSPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE (OMIM:613672)  LSDB  L: 00083;
..expandSPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
..expandSPLIT-HAND/FOOT MALFORMATION 3 (OMIM:246560)
..expandSPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
..expandSPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
..expandStomatognathic Diseases (D009057) Child594
..expandTHROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS (OMIM:617441)
..expandTHROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304)
..expandVAN DER WOUDE SYNDROME 1, MODIFIER OF (OMIM:604547)
..expandVENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
..expandVENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS (OMIM:615441)
..expandVirus Diseases (D014777) Child307
..expandVISCERAL MYOPATHY (OMIM:155310)
..expandWAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
..expandWIEDEMANN-STEINER SYNDROME (OMIM:605130)
..expandWITTEVEEN-KOLK SYNDROME (OMIM:613406)
..expandWOOLLY HAIR, AUTOSOMAL DOMINANT (OMIM:194300)
..expandWounds and Injuries (D014947) Child274
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:3124
Name:CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME
Definition:
Alternative IDs:
ParentIDs:MESH:C537775|MESH:D019465
TreeNumbers:C05.660.207/614195 |C11.250/C537775/614195 |C16.131.384/C537775/614195 |C16.131.621.207/614195
Synonyms:CAASDS
Slim Mappings:Congenital abnormality|Eye disease|Musculoskeletal disease
Reference: MedGen: 614195
MeSH: 614195
OMIM: 614195;
MSeqDR LSDB:  
Genes: VSX1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000512Abnormal electroretinogram
3 HP:0011488Abnormality of corneal endothelium
4 HP:0000356Abnormality of the outer ear
5 HP:0007035Anterior encephalocele
6 HP:0007700Anterior segment dysgenesis
7 HP:0000238Hydrocephalus
8 HP:0000316Hypertelorism
9 HP:0007291Posterior fossa cyst
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_014588.6(VSX1):c.766G>T (p.Ala256Ser)30813VSX1Pathogenicrs74315435RCV000005562; NMONDO:MONDO:0013618,MedGen:C3280099,OMIM:614195202505836325058363CA20:g.25058363C>AOMIM:605020.0004,ClinGen:CA117358,UniProtKB:Q9NZR4#VAR_066672C3280099 614195 Craniofacial anomalies and anterior segment dysgenesis syndrome;
NM_014588.6(VSX1):c.412G>A (p.Val138Ile)30813VSX1Benignrs111722263RCV001200052; NMONDO:MONDO:0013618,MedGen:C3280099,OMIM:614195202506232125062321CT20:g.25062321C>T-
MSeqDR Portal