MCID: LTH016
MIFTS: 20

Lethal Congenital Contractural Syndrome 2 malady

Genetic diseases, Rare diseases, Fetal diseases categories

Summaries for Lethal Congenital Contractural Syndrome 2

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MalaCards based summary: Lethal Congenital Contractural Syndrome 2, also known as lccs2, is related to congenital contractures and lethal congenital contracture syndrome 1, and has symptoms including autosomal recessive inheritance, hydronephrosis and micrognathia. An important gene associated with Lethal Congenital Contractural Syndrome 2 is ERBB3 (v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3).

Description from OMIM:47 607598

Aliases & Classifications for Lethal Congenital Contractural Syndrome 2

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 49Orphanet, 62UMLS, 28ICD10 via Orphanet
See all sources

Lethal Congenital Contractural Syndrome 2, Aliases & Descriptions:

Name: Lethal Congenital Contractural Syndrome 2 47 11
Lccs2 43 49 62
Multiple Contracture Syndrome, Israeli-Bedouin Type 43 49
 
Lethal Congenital Contracture Syndrome Type 2 43 49
Lethal Congenital Contracture Syndrome 2 47 43
Multiple Contracture Syndrome, Israeli Bedouin Type 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases


External Ids:

OMIM47 607598
Orphanet49 137776
ICD10 via Orphanet28 Q68.8

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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1congenital contractures10.2
2lethal congenital contracture syndrome 110.1

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 amyotrophy HP:0003202
13 degenerative vitreoretinopathy HP:0007964
14 severe myopia HP:0011003

Drugs & Therapeutics for Lethal Congenital Contractural Syndrome 2

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Drug clinical trials:

Search ClinicalTrials for Lethal Congenital Contractural Syndrome 2

Search NIH Clinical Center for Lethal Congenital Contractural Syndrome 2

Genetic Tests for Lethal Congenital Contractural Syndrome 2

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Anatomical Context for Lethal Congenital Contractural Syndrome 2

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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:

7
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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Compounds 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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Products for genes affiliated with Lethal Congenital Contractural Syndrome 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Lethal Congenital Contractural Syndrome 2

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet