MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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: Abnormalities, Multiple (D000015)
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Ichthyosiform Erythroderma, Congenital (D016113)
Parent Node: Limb Deformities, Congenital (D017880)
..Starting node ..Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (C562515)
Child Nodes:
Sister Nodes:
..Aase Smith syndrome (C535332)
..Abruzzo Erickson syndrome (C535559)
..Acromegaloid facial appearance syndrome (C535655)
..Acromicric dysplasia (C535662) 1
..Acropectoral syndrome (C535664)
..Acropectorovertebral Dysplasia, F-Form (C566319)
..Acrorenal syndrome recessive (C535666)
..Adams Oliver syndrome (C538225)
..Arachnodactyly (D054119) 10
..Arms, Malformation of (C566258)
..ATELOSTEOGENESIS, TYPE III (OMIM:108721)
..B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..Bagatelle Cassidy syndrome (C537796)
..Brachydactyly (D059327) 54
..Brachymorphism-onychodysplasia-dysphalangism syndrome (C536242)
..Brachyolmia, recessive Hobaek type (C537099)
..Calabro syndrome (C537960)
..Camptobrachydactyly (C537967)
..Cartwright Nelson Fryns syndrome (C535917)
..Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula (C563731)
..CHITAYAT SYNDROME (OMIM:617180)
..Chondrodysplasia, acromesomelic, with genital anomalies (C537913)
..COCOON SYNDROME (OMIM:613630)
..CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
..Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (C562515)
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Craniomicromelic Syndrome (C566522)
..Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull (C563380)
..Ectrodactyly (C574275)
..Ectrodactyly-Polydactyly (C565601)
..Ectromelia (D004480) 22
..Faciocardiomelic Dysplasia, Lethal (C565578)
..Fetal akinesia syndrome, X-linked (C537921)
..Freire-Maia odontotrichomelic syndrome (C535637)
..Fryns syndrome (C538070)
..Genee-Wiedemann syndrome (C537680)
..Grubben de Cock Borghgraef syndrome (C537621)
..Hand and foot deformity with flat facies (C535626)
..Hanhart syndrome (C535629)
..Heart defects limb shortening (C535850)
..Hypochondroplasia (C562937)
..Hypoglossia-Hypodactylia (C566308)
..Ichthyosis tapered fingers midline groove up (C536272)
..INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
..Kaplan Plauchu Fitch syndrome (C536892)
..Kaufman oculocerebrofacial syndrome (C537013)
..Krause-Kivlin syndrome (C537617)
..Kuster syndrome (C538126)
..Laryngeal Atresia, Encephalocele, and Limb Deformities (C564620)
..Le Marec Bracq Picaud syndrome (C536997)
..Limb Defects, Distal Transverse, with Mental Retardation and Spasticity (C565438)
..Limb Deficiencies, Distal, with Micrognathia (C565437)
..Limb-mammary syndrome (C535903)
..Lower Extremity Deformities, Congenital (D038061) 89
..Lynch Lee Murday syndrome (C537713)
..Megalodactyly (C562546)
..Mental retardation spasticity ectrodactyly (C537446)
..Mesomelia-synostoses syndrome (C537348)
..Metaphyseal anadysplasia (C537351)
..Metaphyseal Anadysplasia 1 (C567545)
..Metaphyseal Anadysplasia 2 (C567771)
..Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies (C564370)
..Microphthalmia, Syndromic 6 (C566440)
..Multiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
..Multiple Pterygium Syndrome, X-Linked (C564072)
..Nephrosis deafness urinary tract digital malformation (C536402)
..Neu Laxova syndrome (C536405)
..Nievergelt syndrome (C536120)
..Oculodigitoesophagoduodenal syndrome (C537734)
..Palant cleft palate syndrome (C538102)
..Penttinen-Aula syndrome (C536653)
..Pointer syndrome (C536323)
..Polydactyly (D017689) 61
..Postaxial Oligodactyly, Tetramelic (C566767)
..Powell Chandra Saal syndrome (C538357)
..Propping Zerres syndrome (C538052)
..Proteus Syndrome (D016715) 1
..Radial Ray Deficiency, X-Linked (C564523)
..Rapadilino syndrome (C535288)
..Reardon Hall Slaney syndrome (C535294)
..Renal dysplasia - limb defects syndrome (C537754)
..Robinow Syndrome, Autosomal Dominant (C562492)
..Robinow syndrome, autosomal recessive (C535863)
..Ruzicka Goerz Anton syndrome (C537192)
..Short Stature-Obesity Syndrome (C564821)
..Splenogonadal fusion limb defects micrognatia (C537318)
..Split hand foot deformity (C535777) 2
..SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY (OMIM:616890)
..Split-Hand And Split-Foot With Hypodontia (C566665)
..Split-Hand Foot Malformation 2 (C564056) 1
..Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
..Split-Hand-Foot Malformation 4 (C565344)
..Split-Hand-Foot Malformation 5 (C564674)
..Split-Hand-Foot Malformation 6 (C567616)
..Split-Hand-Foot Malformation With Long Bone Deficiency 1 (C536425)
..Split-Hand-Foot Malformation With Long Bone Deficiency 2 (C565199)
..Split-Hand-Foot Malformation With Long Bone Deficiency 3 (C567245)
..Steinfeld Syndrome (C566655)
..Stern Lubinsky Durrie syndrome (C537488)
..Stratton-Parker Syndrome (C566105)
..Syndactyly (D013576) 69
..Terminal Osseous Dysplasia and Pigmentary Defects (C564554)
..Tetramelic Monodactyly (C566066)
..Thanatophoric Dysplasia (D013796) 8
..Thoracic Dysplasia-Hydrocephalus Syndrome (C564774)
..Thoraco limb dysplasia Rivera type (C536516)
..Thoracomelic Dysplasia (C564773)
..Ulnar Hypoplasia with Mental Retardation (C564757)
..Upper Extremity Deformities, Congenital (D038062) 145
..VACTERL association (C536495)
..Viljoen Kallis Voges syndrome (C536349)
..Weyers acrofacial dysostosis (C536695)
..Wright Dyck syndrome (C536749)
..Yunis 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 :
Genes: CTNS; NSDHL;

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0001671	Abnormal cardiac septum morphology
3	HP:0030680	Abnormality of cardiovascular system morphology	HP:0040283
4	HP:0001597	Abnormality of the nail	HP:0040282
5	HP:0000835	Adrenal hypoplasia	HP:0040283
6	HP:0001596	Alopecia	HP:0040283
7	HP:0002977	Aplasia/Hypoplasia involving the central nervous system	HP:0040283
8	HP:0009815	Aplasia/hypoplasia of the extremities	HP:0040281
9	HP:0000204	Cleft upper lip
10	HP:0001374	Congenital hip dislocation	HP:0040283
11	HP:0007431	Congenital ichthyosiform erythroderma	HP:0040280
12	HP:0003465	Elevated 8(9)-cholestenol	HP:0040283
13	HP:0003462	Elevated 8-dehydrocholesterol	HP:0040283
14	HP:0010655	Epiphyseal stippling	HP:0040281 Infantile onset
15	HP:0001371	Flexion contracture	HP:0040283
16	HP:0000365	Hearing impairment	HP:0040283
17	HP:0001425	Heterogeneous
18	HP:0000126	Hydronephrosis
19	HP:0000962	Hyperkeratosis	HP:0040282
20	HP:0008839	Hypoplastic pelvis
21	HP:0008839	Hypoplastic pelvis	HP:0040283
22	HP:0000882	Hypoplastic scapulae	HP:0040283
23	HP:0001256	Intellectual disability, mild
24	HP:0000347	Micrognathia	HP:0040283
25	HP:0008883	Mild intrauterine growth retardation
26	HP:0001036	Parakeratosis	HP:0040282
27	HP:0002089	Pulmonary hypoplasia	HP:0040283
28	HP:0008678	Renal hypoplasia/aplasia	HP:0040283
29	HP:0002650	Scoliosis	HP:0040283
30	HP:0000894	Short clavicles	HP:0040283
31	HP:0000773	Short ribs	HP:0040283
32	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)	HP:0040283
33	HP:0001750	Single ventricle
34	HP:0003826	Stillbirth	HP:0040284
35	HP:0005990	Thyroid hypoplasia	HP:0040283
36	HP:0001537	Umbilical hernia
37	HP:0008417	Vertebral hypoplasia	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_015922.3(NSDHL):c.132T>G (p.Gly44=)	50814	NSDHL	Benign	rs5969919	RCV000146961\|RCV001514286\|RCV001788042\|RCV001788043;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139\|MONDO:MONDO:0010441,MedGen:C3151781,OMIM:300831, Orphanet:251383	X	152018832	152018832	T	G	X:g.152018832T>G	ClinGen:CA172876	CN169374 not specified;
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter)	50814	NSDHL	Pathogenic	rs104894903	RCV000012182;	N	MONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139	X	152018962	152018962	C	T	X:g.152018962C>T	ClinGen:CA341092,OMIM:300275.0004	C0265267 308050 Child syndrome;
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val)	50814	NSDHL	Pathogenic	rs104894909	RCV000012179;	N	MONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139	X	152027360	152027360	C	T	X:g.152027360C>T	ClinGen:CA341090,UniProtKB:Q15738#VAR_010207,OMIM:300275.0001	C0265267 308050 Child syndrome;
NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu)	50814	NSDHL	Likely pathogenic	rs1602937895	RCV000985094;	N	MONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139	X	152027363	152027363	C	T	X:g.152027363C>T	-
NM_015922.3(NSDHL):c.370G>A (p.Gly124Ser)	50814	NSDHL	Pathogenic	rs137853862	RCV000020429;	N	MONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139	X	152027416	152027416	G	A	X:g.152027416G>A	ClinGen:CA341817	C0265267 308050 Child syndrome;
NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter)	50814	NSDHL	Pathogenic	rs104894905	RCV000012184;	N	MONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139	X	152031176	152031176	G	T	X:g.152031176G>T	ClinGen:CA255885,OMIM:300275.0006	C0265267 308050 Child syndrome;
NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro)	50814	NSDHL	Pathogenic	rs104894904	RCV000012183;	N	MONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139	X	152034363	152034363	G	C	X:g.152034363G>C	ClinGen:CA255884,UniProtKB:Q15738#VAR_065289,OMIM:300275.0005	C0265267 308050 Child syndrome;
NM_015922.3(NSDHL):c.595C>T (p.Arg199Cys)	50814	NSDHL	Conflicting interpretations of pathogenicity	rs587784223	RCV000146963\|RCV000179494;	N	MONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139\|MedGen:CN517202	X	152034414	152034414	C	T	X:g.152034414C>T	ClinGen:CA246761	C0265267 308050 Child syndrome;
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser)	50814	NSDHL	Pathogenic	rs104894901	RCV000012180;	N	MONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139	X	152034432	152034432	G	A	X:g.152034432G>A	ClinGen:CA341091,UniProtKB:Q15738#VAR_010208,OMIM:300275.0002	C0265267 308050 Child syndrome;
NM_015922.3(NSDHL):c.628C>T (p.Gln210Ter)	50814	NSDHL	Pathogenic	rs104894902	RCV000012181;	N	MONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139	X	152034447	152034447	C	T	X:g.152034447C>T	ClinGen:CA255882,OMIM:300275.0003	C0265267 308050 Child syndrome;
NM_015922.3(NSDHL):c.727G>A (p.Val243Met)	50814	NSDHL	Conflicting interpretations of pathogenicity	rs587784224	RCV000146964\|RCV000412977;	N	MONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139\|MedGen:CN517202	X	152036155	152036155	G	A	X:g.152036155G>A	ClinGen:CA272342	C0265267 308050 Child syndrome;
NM_015922.3(NSDHL):c.757C>T (p.Gln253Ter)	50814	NSDHL	Pathogenic	rs141571609	RCV000146965;	N	MONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139	X	152036185	152036185	C	T	X:g.152036185C>T	ClinGen:CA272345	C0265267 308050 Child syndrome;
NM_015922.3(NSDHL):c.904del (p.Tyr302fs)	50814	NSDHL	Pathogenic	rs587784225	RCV000146967;	N	MONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139	X	152037442	152037442	CT	C	NC_000023.10:g.152037442del	ClinGen:CA272348
NM_015922.3(NSDHL):c.906C>A (p.Tyr302Ter)	50814	NSDHL	Pathogenic	rs587784226	RCV000146968;	N	MONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139	X	152037444	152037444	C	A	X:g.152037444C>A	ClinGen:CA272349	C0265267 308050 Child syndrome;
NM_015922.3(NSDHL):c.1038_1041dup (p.Gly348fs)	50814	NSDHL	Pathogenic	rs797045835	RCV000192617;	N	MONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139	X	152037575	152037576	C	CCATG	NC_000023.10:g.152037576_152037579dupCATG	ClinGen:CA276997	C0265267 308050 Child syndrome;
NM_015922.3(NSDHL):c.1046A>G (p.Tyr349Cys)	50814	NSDHL	Pathogenic	rs137853863	RCV000020427;	N	MONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139	X	152037584	152037584	A	G	X:g.152037584A>G	ClinGen:CA341814	C0265267 308050 Child syndrome;
NM_015922.3(NSDHL):c.1114del (p.Val372fs)	50814	NSDHL	Likely pathogenic	rs587784222	RCV000146960;	N	MONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139	X	152037650	152037650	AG	A	NC_000023.10:g.152037652del	ClinGen:CA272341
NM_015922.3(NSDHL):c.*129C>T	50814	NSDHL	Benign	rs145978994	RCV000990968;	N	MONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050, Orphanet:139	X	152037789	152037789	C	T	X:g.152037789C>T	-

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