MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
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Abnormalities, Multiple (D000015)
Parent Node:
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Genetic Diseases, X-Linked (D040181)
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Ichthyosiform Erythroderma, Congenital (D016113)
Parent Node:
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Limb Deformities, Congenital (D017880)
..Starting node
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Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (C562515)

       Child Nodes:



 Sister Nodes: 
..expandAase Smith syndrome (C535332)
..expandAbruzzo Erickson syndrome (C535559)
..expandAcromegaloid facial appearance syndrome (C535655)
..expandAcromicric dysplasia (C535662) Child1
..expandAcropectoral syndrome (C535664)
..expandAcropectorovertebral Dysplasia, F-Form (C566319)
..expandAcrorenal syndrome recessive (C535666)
..expandAdams Oliver syndrome (C538225)
..expandArachnodactyly (D054119) Child10
..expandArms, Malformation of (C566258)
..expandATELOSTEOGENESIS, TYPE III (OMIM:108721)
..expandB-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..expandBagatelle Cassidy syndrome (C537796)
..expandBrachydactyly (D059327) Child54
..expandBrachymorphism-onychodysplasia-dysphalangism syndrome (C536242)
..expandBrachyolmia, recessive Hobaek type (C537099)
..expandCalabro syndrome (C537960)
..expandCamptobrachydactyly (C537967)
..expandCartwright Nelson Fryns syndrome (C535917)
..expandCerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula (C563731)
..expandCHITAYAT SYNDROME (OMIM:617180)
..expandChondrodysplasia, acromesomelic, with genital anomalies (C537913)
..expandCOCOON SYNDROME (OMIM:613630)
..expandCONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
..expandCongenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (C562515)
..expandCorpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..expandCraniomicromelic Syndrome (C566522)
..expandDiaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull (C563380)
..expandEctrodactyly (C574275)
..expandEctrodactyly-Polydactyly (C565601)
..expandEctromelia (D004480) Child22
..expandFaciocardiomelic Dysplasia, Lethal (C565578)
..expandFetal akinesia syndrome, X-linked (C537921)
..expandFreire-Maia odontotrichomelic syndrome (C535637)
..expandFryns syndrome (C538070)
..expandGenee-Wiedemann syndrome (C537680)
..expandGrubben de Cock Borghgraef syndrome (C537621)
..expandHand and foot deformity with flat facies (C535626)
..expandHanhart syndrome (C535629)
..expandHeart defects limb shortening (C535850)
..expandHypochondroplasia (C562937)
..expandHypoglossia-Hypodactylia (C566308)
..expandIchthyosis tapered fingers midline groove up (C536272)
..expandINTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
..expandKaplan Plauchu Fitch syndrome (C536892)
..expandKaufman oculocerebrofacial syndrome (C537013)
..expandKrause-Kivlin syndrome (C537617)
..expandKuster syndrome (C538126)
..expandLaryngeal Atresia, Encephalocele, and Limb Deformities (C564620)
..expandLe Marec Bracq Picaud syndrome (C536997)
..expandLimb Defects, Distal Transverse, with Mental Retardation and Spasticity (C565438)
..expandLimb Deficiencies, Distal, with Micrognathia (C565437)
..expandLimb-mammary syndrome (C535903)
..expandLower Extremity Deformities, Congenital (D038061) Child89
..expandLynch Lee Murday syndrome (C537713)
..expandMegalodactyly (C562546)
..expandMental retardation spasticity ectrodactyly (C537446)
..expandMesomelia-synostoses syndrome (C537348)
..expandMetaphyseal anadysplasia (C537351)
..expandMetaphyseal Anadysplasia 1 (C567545)
..expandMetaphyseal Anadysplasia 2 (C567771)
..expandMicrophthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies (C564370)
..expandMicrophthalmia, Syndromic 6 (C566440)
..expandMultiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
..expandMultiple Pterygium Syndrome, X-Linked (C564072)
..expandNephrosis deafness urinary tract digital malformation (C536402)
..expandNeu Laxova syndrome (C536405)
..expandNievergelt syndrome (C536120)
..expandOculodigitoesophagoduodenal syndrome (C537734)
..expandPalant cleft palate syndrome (C538102)
..expandPenttinen-Aula syndrome (C536653)
..expandPointer syndrome (C536323)
..expandPolydactyly (D017689) Child61
..expandPostaxial Oligodactyly, Tetramelic (C566767)
..expandPowell Chandra Saal syndrome (C538357)
..expandPropping Zerres syndrome (C538052)
..expandProteus Syndrome (D016715) Child1
..expandRadial Ray Deficiency, X-Linked (C564523)
..expandRapadilino syndrome (C535288)
..expandReardon Hall Slaney syndrome (C535294)
..expandRenal dysplasia - limb defects syndrome (C537754)
..expandRobinow Syndrome, Autosomal Dominant (C562492)
..expandRobinow syndrome, autosomal recessive (C535863)
..expandRuzicka Goerz Anton syndrome (C537192)
..expandShort Stature-Obesity Syndrome (C564821)
..expandSplenogonadal fusion limb defects micrognatia (C537318)
..expandSplit hand foot deformity (C535777) Child2
..expandSPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY (OMIM:616890)
..expandSplit-Hand And Split-Foot With Hypodontia (C566665)
..expandSplit-Hand Foot Malformation 2 (C564056) Child1
..expandSplit-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
..expandSplit-Hand-Foot Malformation 4 (C565344)
..expandSplit-Hand-Foot Malformation 5 (C564674)
..expandSplit-Hand-Foot Malformation 6 (C567616)
..expandSplit-Hand-Foot Malformation With Long Bone Deficiency 1 (C536425)
..expandSplit-Hand-Foot Malformation With Long Bone Deficiency 2 (C565199)
..expandSplit-Hand-Foot Malformation With Long Bone Deficiency 3 (C567245)
..expandSteinfeld Syndrome (C566655)
..expandStern Lubinsky Durrie syndrome (C537488)
..expandStratton-Parker Syndrome (C566105)
..expandSyndactyly (D013576) Child69
..expandTerminal Osseous Dysplasia and Pigmentary Defects (C564554)
..expandTetramelic Monodactyly (C566066)
..expandThanatophoric Dysplasia (D013796) Child8
..expandThoracic Dysplasia-Hydrocephalus Syndrome (C564774)
..expandThoraco limb dysplasia Rivera type (C536516)
..expandThoracomelic Dysplasia (C564773)
..expandUlnar Hypoplasia with Mental Retardation (C564757)
..expandUpper Extremity Deformities, Congenital (D038062) Child145
..expandVACTERL association (C536495)
..expandViljoen Kallis Voges syndrome (C536349)
..expandWeyers acrofacial dysostosis (C536695)
..expandWright Dyck syndrome (C536749)
..expandYunis Varon syndrome (C536719)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:2944
Name:Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Definition:
Alternative IDs:OMIM:308050
ParentIDs:MESH:D000015|MESH:D016113|MESH:D017880|MESH:D040181
TreeNumbers:C05.660.585/C562515 |C16.131.077/C562515 |C16.131.621.585/C562515 |C16.131.831.512.400/C562515 |C16.320.322/C562515 |C16.320.850.400/C562515 |C16.614.492.400/C562515 |C17.800.428.333.250/C562515 |C17.800.804.512.400/C562515 |C17.800.827.400/C562515
Synonyms:CHILD Syndrome |Ichthyosiform Erythroderma, Unilateral, with Ipsilateral Malformations, Especially Absence Deformity Of Limbs
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Musculoskeletal disease|Skin disease
Reference: MedGen: C562515
MeSH: C562515
OMIM: 308050;
MSeqDR LSDB:  
Genes: CTNS; NSDHL;
Phenotypes
1 HP:0001423X-linked dominant inheritance
2 HP:0001671Abnormal cardiac septum morphology
3 HP:0030680Abnormality of cardiovascular system morphologyHP:0040283
4 HP:0001597Abnormality of the nailHP:0040282
5 HP:0000835Adrenal hypoplasiaHP:0040283
6 HP:0001596AlopeciaHP:0040283
7 HP:0002977Aplasia/Hypoplasia involving the central nervous systemHP:0040283
8 HP:0009815Aplasia/hypoplasia of the extremitiesHP:0040281
9 HP:0000204Cleft upper lip
10 HP:0001374Congenital hip dislocationHP:0040283
11 HP:0007431Congenital ichthyosiform erythrodermaHP:0040280
12 HP:0003465Elevated 8(9)-cholestenolHP:0040283
13 HP:0003462Elevated 8-dehydrocholesterolHP:0040283
14 HP:0010655Epiphyseal stipplingHP:0040281 Infantile onset
15 HP:0001371Flexion contractureHP:0040283
16 HP:0000365Hearing impairmentHP:0040283
17 HP:0001425Heterogeneous
18 HP:0000126Hydronephrosis
19 HP:0000962HyperkeratosisHP:0040282
20 HP:0008839Hypoplastic pelvis
21 HP:0008839Hypoplastic pelvisHP:0040283
22 HP:0000882Hypoplastic scapulaeHP:0040283
23 HP:0001256Intellectual disability, mild
24 HP:0000347MicrognathiaHP:0040283
25 HP:0008883Mild intrauterine growth retardation
26 HP:0001036ParakeratosisHP:0040282
27 HP:0002089Pulmonary hypoplasiaHP:0040283
28 HP:0008678Renal hypoplasia/aplasiaHP:0040283
29 HP:0002650ScoliosisHP:0040283
30 HP:0000894Short claviclesHP:0040283
31 HP:0000773Short ribsHP:0040283
32 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
HP:0040283
33 HP:0001750Single ventricle
34 HP:0003826StillbirthHP:0040284
35 HP:0005990Thyroid hypoplasiaHP:0040283
36 HP:0001537Umbilical hernia
37 HP:0008417Vertebral hypoplasiaHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_015922.3(NSDHL):c.132T>G (p.Gly44=)50814NSDHLBenignrs5969919RCV000146961|RCV001514286|RCV001788042|RCV001788043; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139|MONDO:MONDO:0010441,MedGen:C3151781,OMIM:300831, Orphanet:251383X152018832152018832TGX:g.152018832T>GClinGen:CA172876CN169374 not specified;
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter)50814NSDHLPathogenicrs104894903RCV000012182; NMONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139X152018962152018962CTX:g.152018962C>TClinGen:CA341092,OMIM:300275.0004C0265267 308050 Child syndrome;
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val)50814NSDHLPathogenicrs104894909RCV000012179; NMONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139X152027360152027360CTX:g.152027360C>TClinGen:CA341090,UniProtKB:Q15738#VAR_010207,OMIM:300275.0001C0265267 308050 Child syndrome;
NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu)50814NSDHLLikely pathogenicrs1602937895RCV000985094; NMONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139X152027363152027363CTX:g.152027363C>T-
NM_015922.3(NSDHL):c.370G>A (p.Gly124Ser)50814NSDHLPathogenicrs137853862RCV000020429; NMONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139X152027416152027416GAX:g.152027416G>AClinGen:CA341817C0265267 308050 Child syndrome;
NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter)50814NSDHLPathogenicrs104894905RCV000012184; NMONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139X152031176152031176GTX:g.152031176G>TClinGen:CA255885,OMIM:300275.0006C0265267 308050 Child syndrome;
NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro)50814NSDHLPathogenicrs104894904RCV000012183; NMONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139X152034363152034363GCX:g.152034363G>CClinGen:CA255884,UniProtKB:Q15738#VAR_065289,OMIM:300275.0005C0265267 308050 Child syndrome;
NM_015922.3(NSDHL):c.595C>T (p.Arg199Cys)50814NSDHLConflicting interpretations of pathogenicityrs587784223RCV000146963|RCV000179494; NMONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139|MedGen:CN517202X152034414152034414CTX:g.152034414C>TClinGen:CA246761C0265267 308050 Child syndrome;
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser)50814NSDHLPathogenicrs104894901RCV000012180; NMONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139X152034432152034432GAX:g.152034432G>AClinGen:CA341091,UniProtKB:Q15738#VAR_010208,OMIM:300275.0002C0265267 308050 Child syndrome;
NM_015922.3(NSDHL):c.628C>T (p.Gln210Ter)50814NSDHLPathogenicrs104894902RCV000012181; NMONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139X152034447152034447CTX:g.152034447C>TClinGen:CA255882,OMIM:300275.0003C0265267 308050 Child syndrome;
NM_015922.3(NSDHL):c.727G>A (p.Val243Met)50814NSDHLConflicting interpretations of pathogenicityrs587784224RCV000146964|RCV000412977; NMONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139|MedGen:CN517202X152036155152036155GAX:g.152036155G>AClinGen:CA272342C0265267 308050 Child syndrome;
NM_015922.3(NSDHL):c.757C>T (p.Gln253Ter)50814NSDHLPathogenicrs141571609RCV000146965; NMONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139X152036185152036185CTX:g.152036185C>TClinGen:CA272345C0265267 308050 Child syndrome;
NM_015922.3(NSDHL):c.904del (p.Tyr302fs)50814NSDHLPathogenicrs587784225RCV000146967; NMONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139X152037442152037442CTCNC_000023.10:g.152037442delClinGen:CA272348
NM_015922.3(NSDHL):c.906C>A (p.Tyr302Ter)50814NSDHLPathogenicrs587784226RCV000146968; NMONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139X152037444152037444CAX:g.152037444C>AClinGen:CA272349C0265267 308050 Child syndrome;
NM_015922.3(NSDHL):c.1038_1041dup (p.Gly348fs)50814NSDHLPathogenicrs797045835RCV000192617; NMONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139X152037575152037576CCCATGNC_000023.10:g.152037576_152037579dupCATGClinGen:CA276997C0265267 308050 Child syndrome;
NM_015922.3(NSDHL):c.1046A>G (p.Tyr349Cys)50814NSDHLPathogenicrs137853863RCV000020427; NMONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139X152037584152037584AGX:g.152037584A>GClinGen:CA341814C0265267 308050 Child syndrome;
NM_015922.3(NSDHL):c.1114del (p.Val372fs)50814NSDHLLikely pathogenicrs587784222RCV000146960; NMONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139X152037650152037650AGANC_000023.10:g.152037652delClinGen:CA272341
NM_015922.3(NSDHL):c.*129C>T50814NSDHLBenignrs145978994RCV000990968; NMONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139X152037789152037789CTX:g.152037789C>T-
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