LCCS2
MCID: LTH016
MIFTS: 18

Lethal Congenital Contractural Syndrome 2 (LCCS2) malady

Genetic diseases, Fetal diseases, Rare diseases categories

Summaries for Lethal Congenital Contractural Syndrome 2

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Looking for an antibody for researching lethal congenital contractural syndrome 2?

ERBB3 antibody
MalaCards based summary: Lethal Congenital Contractural Syndrome 2, also known as LCCS2, is related to lethal congenital contracture syndrome 2 and congenital contractures, 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:46 607598

Aliases & Classifications for Lethal Congenital Contractural Syndrome 2

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Sources:
48Orphanet, 61UMLS, 46OMIM, 27ICD10 via Orphanet
See all sources

Lethal Congenital Contractural Syndrome 2, Aliases & Descriptions:

Name: Lethal Congenital Contractural Syndrome 2 46
Lccs2 48 61
 
Multiple Contracture Syndrome, Israeli-Bedouin Type 48
Lethal Congenital Contracture Syndrome Type 2 48


Classifications:

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


External Ids:

OMIM46 607598
ICD10 via Orphanet27 Q68.8

Related Diseases for Lethal Congenital Contractural Syndrome 2

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Diseases in the Lethal Congenital Contractural Syndrome 3 family:

lethal congenital contractural syndrome 2

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

idRelated DiseaseScoreTop Affiliating Genes
1lethal congenital contracture syndrome 210.5
2congenital contractures10.2
3lethal 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 Name 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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Expression patterns in normal tissues for genes affiliated with Lethal Congenital Contractural Syndrome 2

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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Sources for Lethal Congenital Contractural Syndrome 2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet