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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: Arthrogryposis (D001176)
..Starting node ..Lethal Congenital Contracture Syndrome 2 (C564369)
Child Nodes:
Sister Nodes:
..Arthrogryposis and ectodermal dysplasia (C537441)
..Arthrogryposis epileptic seizures migrational brain disorder (C537442)
..Arthrogryposis multiplex congenita neurogenic type (C536614)
..Arthrogryposis multiplex congenita whistling face (C538401)
..Arthrogryposis multiplex congenita, distal type 1 (C535378)
..Arthrogryposis multiplex congenita, distal type 2 (C535379)
..Arthrogryposis multiplex congenita, distal, X-linked (C535380)
..Arthrogryposis multiplex with deafness, inguinal hernias, and early death (C535381)
..Arthrogryposis renal dysfunction cholestasis syndrome (C535382)
..ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED (OMIM:300158)
..Arthrogryposis, Distal, Type 10 (C566069)
..ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
..ARTHROGRYPOSIS, DISTAL, TYPE 1B (OMIM:614335)
..Arthrogryposis, distal, type 2E (C535384)
..ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
..Arthrogryposis, Distal, Type 4 (C563791)
..ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
..ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
..ARTHROGRYPOSIS, DISTAL, TYPE 8 (OMIM:178110)
..Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies (C535385)
..ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
..Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies (C565940)
..ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (OMIM:615553)
..ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
..Arthrogryposis, X-Linked, Type V (C564574)
..Arthrogryposis-like hand anomaly and sensorineural deafness (C535386)
..Boylan Dew Greco syndrome (C537083)
..Bruck syndrome 1 (C537406)
..Bruck syndrome 2 (C537407)
..Camptodactyly-ichthyosis syndrome (C537976)
..Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome (C566861)
..Cerebrooculofacioskeletal Syndrome 2 (C565185)
..Cerebrooculofacioskeletal Syndrome 4 (C565184)
..Contractures ectodermal dysplasia cleft lip palate (C535465)
..Cyprus facial neuromusculoskeletal syndrome (C536229)
..Distal arthrogryposis Moore Weaver type (C536814)
..Distal arthrogryposis type 2B (C538400)
..German Syndrome (C562543)
..Gordon syndrome (C537288)
..Hecht syndrome (C535857)
..Holoprosencephaly with Fetal Akinesia-Hypokinesia Sequence (C564409)
..Jequier Kozlowski skeletal dysplasia (C537569)
..Johnston Aarons Schelley syndrome (C535883)
..Kuskokwim disease (C538124)
..Ladda Zonana Ramer syndrome (C538135)
..Lethal Arthrogryposis With Anterior Horn Cell Disease (C567502)
..Lethal congenital contracture syndrome 1 (C537194)
..LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
..LETHAL CONGENITAL CONTRACTURE SYNDROME 11 (OMIM:617194)
..Lethal Congenital Contracture Syndrome 2 (C564369)
..LETHAL CONGENITAL CONTRACTURE SYNDROME 4 (OMIM:614915)
..LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (OMIM:615368)
..LETHAL CONGENITAL CONTRACTURE SYNDROME 6 (OMIM:616248)
..LETHAL CONGENITAL CONTRACTURE SYNDROME 7 (OMIM:616286)
..LETHAL CONGENITAL CONTRACTURE SYNDROME 8 (OMIM:616287)
..LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
..Massa Casaer Ceulemans syndrome (C536031)
..Minicore myopathy, antenatal onset, with arthrogryposis (C537474)
..Multiple Pterygium Syndrome, Autosomal Dominant (C566739)
..MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
..Muscular Dystrophy, Congenital, Producing Arthrogryposis (C564985)
..Neuropathy, congenital, with arthrogryposis multiplex (C535714)
..Oculomelic amyoplasia (C537737)
..Pelvic dysplasia arthrogryposis of lower limbs (C535548)
..Pena Shokeir syndrome, type 1 (C536647)
..Podder-Tolmie syndrome (C537518)
..Ray Peterson Scott syndrome (C535292)
..Spondylohypoplasia, arthrogryposis and popliteal pterygium (C535790)
..Spranger Schinzel Myers syndrome (C535801)
..Tomaculous neuropathy (C536965)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

6927

Name:

Lethal Congenital Contracture Syndrome 2

Definition:

Alternative IDs:

DO:DOID:0060560|OMIM:607598

ParentIDs:

MESH:D001176

TreeNumbers:

C05.550.150/C564369 |C05.651.102/C564369 |C05.660.077/C564369 |C16.131.621.077/C564369

Synonyms:

LCCS2 |Multiple Contracture Syndrome, Israeli Bedouin Type A

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: C564369
MeSH: C564369
OMIM: 607598;
MSeqDR :
Genes: ERBB3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002304	Akinesia
3	HP:0002804	Arthrogryposis multiplex congenita
4	HP:0001558	Decreased fetal movement
5	HP:0007964	Degenerative vitreoretinopathy
6	HP:0001644	Dilated cardiomyopathy NAMDC: Dilated cardiomyopathy	HP:0040283
7	HP:0000969	Edema
8	HP:0011003	High myopia
9	HP:0000126	Hydronephrosis
10	HP:0000347	Micrognathia
11	HP:0001561	Polyhydramnios
12	HP:0002878	Respiratory failure	Infantile onset
13	HP:0003202	Skeletal muscle atrophy
14	HP:0001629	Ventricular septal defect	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001982.4(ERBB3):c.234+8A>T	2065	ERBB3	Benign	-1	RCV001661290\|RCV001661289\|RCV001713672;	N	MONDO:MONDO:0023961,MedGen:C1855733,OMIM:PS243180\|MONDO:MONDO:0011868,MedGen:C1843478,OMIM:607598, Orphanet:137776\|MedGen:CN517202	12	56477694	56477694	56477694	-
NM_001982.4(ERBB3):c.1184-9A>G	2065	ERBB3	Pathogenic	-1	RCV000013400;	N	MONDO:MONDO:0011868,MedGen:C1843478,OMIM:607598, Orphanet:137776	12	56486761	56486761	56486761	OMIM:190151.0001	C1843478 607598 Lethal congenital contracture syndrome 2;
NM_001982.4(ERBB3):c.1253T>C (p.Ile418Thr)	2065	ERBB3	Likely pathogenic	rs141230043	RCV001257435;	N	MONDO:MONDO:0011868,MedGen:C1843478,OMIM:607598, Orphanet:137776	12	56486839	56486839	12:g.56486839T>C	-
NM_001982.4(ERBB3):c.2241G>C (p.Lys747Asn)	2065	ERBB3	Uncertain significance	rs760414488	RCV000784951;	N	MONDO:MONDO:0011868,MedGen:C1843478,OMIM:607598, Orphanet:137776	12	56490597	56490597	12:g.56490597G>C	-
NM_001982.4(ERBB3):c.2615A>T (p.Lys872Met)	2065	ERBB3	Uncertain significance	-1	RCV002795930;	N	MONDO:MONDO:0011868,MedGen:C1843478,OMIM:607598, Orphanet:137776	12	56491723	56491723	NC_000012.11:g.56491723A>T	-
NM_001982.4(ERBB3):c.2616+16G>C	2065	ERBB3	Benign/Likely benign	-1	RCV001661292\|RCV001661291\|RCV001751807;	N	MONDO:MONDO:0023961,MedGen:C1855733,OMIM:PS243180\|MONDO:MONDO:0011868,MedGen:C1843478,OMIM:607598, Orphanet:137776\|MedGen:CN517202	12	56491740	56491740	56491740	-
NM_001982.4(ERBB3):c.3129+9A>C	2065	ERBB3	Benign	-1	RCV001613774\|RCV001658316\|RCV001658317;	N	MedGen:CN517202\|MONDO:MONDO:0011868,MedGen:C1843478,OMIM:607598, Orphanet:137776\|MONDO:MONDO:0023961,MedGen:C1855733,OMIM:PS243180	12	56493822	56493822	56493822	-
NM_001982.4(ERBB3):c.3348G>A (p.Arg1116=)	2065	ERBB3	Benign	-1	RCV001654523\|RCV001658384\|RCV001658383;	N	MedGen:CN517202\|MONDO:MONDO:0023961,MedGen:C1855733,OMIM:PS243180\|MONDO:MONDO:0011868,MedGen:C1843478,OMIM:607598, Orphanet:137776	12	56494991	56494991	56494991	-
NM_001982.4(ERBB3):c.3425C>T (p.Pro1142Leu)	2065	ERBB3	Uncertain significance	rs1592232580	RCV000985171\|RCV003145245;	N	MONDO:MONDO:0011868,MedGen:C1843478,OMIM:607598, Orphanet:137776\|MedGen:CN517202	12	56495068	56495068	12:g.56495068C>T	-

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