MCID: LTH016
MIFTS: 23

Lethal Congenital Contractural Syndrome 2 malady

Genetic diseases, Rare diseases, Fetal diseases categories

Aliases & Classifications for Lethal Congenital Contractural Syndrome 2

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Aliases & Descriptions for Lethal Congenital Contractural Syndrome 2:

Name: Lethal Congenital Contractural Syndrome 2 49 11
Lethal Congenital Contracture Syndrome 2 45 22 65 67
Lccs2 45 22 51 67
Israeli Bedouin Multiple Contracture Syndrome Type a 67
 
Multiple Contracture Syndrome, Israeli Bedouin Type 45
Multiple Contracture Syndrome, Israeli-Bedouin Type 51
Lethal Congenital Contracture Syndrome Type 2 51


Classifications:



External Ids:

OMIM49 607598
Orphanet51 137776
ICD10 via Orphanet28 Q68.8
MedGen34 C1843478
MeSH36 D001176

Summaries for Lethal Congenital Contractural Syndrome 2

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UniProtKB/Swiss-Prot:67 Lethal congenital contracture syndrome 2: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non- progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS2 patients manifest craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy and a unique feature of a markedly distended urinary bladder (neurogenic bladder defect). The phenotype suggests a spinal cord neuropathic etiology.

MalaCards based summary: Lethal Congenital Contractural Syndrome 2, also known as lethal congenital contracture syndrome 2, is related to congenital contractures and lethal congenital contracture syndrome, and has symptoms including autosomal recessive inheritance, hydronephrosis and micrognathia. An important gene associated with Lethal Congenital Contractural Syndrome 2 is ERBB3 (Erb-B2 Receptor Tyrosine Kinase 3). Affiliated tissues include skeletal muscle and spinal cord.

Description from OMIM:49 607598

Related Diseases for Lethal Congenital Contractural Syndrome 2

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Diseases in the Lethal Congenital Contractural Syndrome 2 family:

Lethal Congenital Contractural Syndrome 3

Diseases related to Lethal Congenital Contractural Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1congenital contractures10.2
2lethal congenital contracture syndrome10.2
3lethal congenital contracture syndrome 110.1
4lethal congenital contractural syndrome 310.1

Symptoms for Lethal Congenital Contractural Syndrome 2

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Symptoms by clinical synopsis from OMIM:

607598

Clinical features from OMIM:

607598

HPO human phenotypes related to Lethal Congenital Contractural Syndrome 2:

(show all 14)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hydronephrosis HP:0000126
3 micrognathia HP:0000347
4 edema HP:0000969
5 decreased fetal movement HP:0001558
6 polyhydramnios HP:0001561
7 ventricular septal defect HP:0001629
8 dilated cardiomyopathy HP:0001644
9 akinesia HP:0002304
10 arthrogryposis multiplex congenita HP:0002804
11 respiratory failure HP:0002878
12 skeletal muscle atrophy HP:0003202
13 degenerative vitreoretinopathy HP:0007964
14 severe myopia HP:0011003

Drugs & Therapeutics for Lethal Congenital Contractural Syndrome 2

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Lethal Congenital Contractural Syndrome 2

Genetic Tests for Lethal Congenital Contractural Syndrome 2

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Genetic tests related to Lethal Congenital Contractural Syndrome 2:

id Genetic test Affiliating Genes
1 Lethal Congenital Contracture Syndrome 222 ERBB3

Anatomical Context for Lethal Congenital Contractural Syndrome 2

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MalaCards organs/tissues related to Lethal Congenital Contractural Syndrome 2:

33
Skeletal muscle, Spinal cord

Animal Models for Lethal Congenital Contractural Syndrome 2 or affiliated genes

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Publications for Lethal Congenital Contractural Syndrome 2

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Variations for Lethal Congenital Contractural Syndrome 2

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Clinvar genetic disease variations for Lethal Congenital Contractural Syndrome 2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ERBB3ERBB3, IVS10, A-G, -8single nucleotide variantPathogenic

Expression for genes affiliated with Lethal Congenital Contractural Syndrome 2

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Search GEO for disease gene expression data for Lethal Congenital Contractural Syndrome 2.

Pathways for genes affiliated with Lethal Congenital Contractural Syndrome 2

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GO Terms for genes affiliated with Lethal Congenital Contractural Syndrome 2

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Sources for Lethal Congenital Contractural Syndrome 2

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet