MCID: LTH016
MIFTS: 22

Lethal Congenital Contractural Syndrome 2 malady

Categories: Genetic diseases, Rare diseases, Fetal diseases

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 67 65
Lccs2 45 22 51 67
Lethal Congenital Contracture Syndrome Type 2 51 24
 
Israeli Bedouin Multiple Contracture Syndrome Type a 67
Multiple Contracture Syndrome, Israeli-Bedouin Type 51
Multiple Contracture Syndrome, Israeli Bedouin Type 45

Characteristics:

HPO:

61
lethal congenital contractural syndrome 2:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 607598
Orphanet51 137776
ICD10 via Orphanet28 Q68.8
MedGen34 C1843478
MeSH36 D001176
UMLS65 C1843478

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 lethal congenital contracture syndrome 1 and lethal congenital contractural syndrome 3, and has symptoms including hydronephrosis, micrognathia and edema. 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
1lethal congenital contracture syndrome 110.3
2lethal congenital contractural syndrome 310.3

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