MCID: LTH016
MIFTS: 36

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 51 12
Lethal Congenital Contracture Syndrome 2 51 11 47 24 69 38 13 67
Lccs2 11 47 24 53 69
Multiple Contracture Syndrome, Israeli-Bedouin Type 11 53
 
Lethal Congenital Contracture Syndrome Type 2 53 26
Israeli Bedouin Multiple Contracture Syndrome Type a 69
Multiple Contracture Syndrome, Israeli Bedouin Type 47

Characteristics:

Orphanet epidemiological data:

53
lccs2:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile

HPO:

63
lethal congenital contractural syndrome 2:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 607598
Disease Ontology11 DOID:0060560
ICD1029 Q68.8
Orphanet53 ORPHA137776
ICD10 via Orphanet30 Q68.8
MedGen36 C1843478

Summaries for Lethal Congenital Contractural Syndrome 2

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UniProtKB/Swiss-Prot:69 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), and among its related pathways are Signaling by PTK6 and a6b1 and a6b4 Integrin signaling. Affiliated tissues include skeletal muscle and spinal cord, and related mouse phenotypes are integument and normal.

Disease Ontology:11 A lethal congenital contracture syndrome that can be that has material basis in homozygous mutation in the ERBB3 gene on chromosome 12q13.

Description from OMIM:51 607598

Related Diseases for Lethal Congenital Contractural Syndrome 2

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Graphical network of diseases related to Lethal Congenital Contractural Syndrome 2:



Diseases related to lethal congenital contractural syndrome 2

Symptoms for Lethal Congenital Contractural Syndrome 2

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Symptoms by clinical synopsis from OMIM:

607598

Clinical features from OMIM:

607598

Human phenotypes related to Lethal Congenital Contractural Syndrome 2:

 63 (show all 13)
id Description HPO Frequency HPO Source Accession
1 hydronephrosis63 HP:0000126
2 micrognathia63 HP:0000347
3 edema63 HP:0000969
4 decreased fetal movement63 HP:0001558
5 polyhydramnios63 HP:0001561
6 ventricular septal defect63 HP:0001629
7 dilated cardiomyopathy63 HP:0001644
8 akinesia63 HP:0002304
9 arthrogryposis multiplex congenita63 HP:0002804
10 respiratory failure63 HP:0002878
11 skeletal muscle atrophy63 HP:0003202
12 degenerative vitreoretinopathy63 HP:0007964
13 severe myopia63 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


Cochrane evidence based reviews: lethal congenital contracture 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 226 24 ERBB3

Anatomical Context for Lethal Congenital Contractural Syndrome 2

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

35
Skeletal muscle, Spinal cord

Animal Models for Lethal Congenital Contractural Syndrome 2 or affiliated genes

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MGI Mouse Phenotypes related to Lethal Congenital Contractural Syndrome 2:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5EGF, ERBB3, NTRK1, PIP5K1C
2MP:00028738.5EGF, ERBB3, NTRK1, PIP5K1C

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, -8SNVPathogenicChr na, -1: -1

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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Cellular components related to Lethal Congenital Contractural Syndrome 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1receptor complexGO:00432358.7EGF, ERBB3, NTRK1

Biological processes related to Lethal Congenital Contractural Syndrome 2 according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of secretionGO:005104810.2EGF, ERBB3
2ERBB2 signaling pathwayGO:00381289.9EGF, ERBB3
3regulation of cell motilityGO:20001459.8EGF, ERBB3
4activation of MAPKK activityGO:00001869.6EGF, NTRK1
5phosphatidylinositol phosphorylationGO:00468549.5EGF, ERBB3, PIP5K1C
6regulation of phosphatidylinositol 3-kinase signalingGO:00140669.5EGF, ERBB3, PIP5K1C
7positive regulation of protein tyrosine kinase activityGO:00610989.4EGF, ERBB3
8negative regulation of neuron apoptotic processGO:00435249.2ERBB3, NTRK1
9phosphatidylinositol-mediated signalingGO:00480159.1EGF, ERBB3, NTRK1
10peptidyl-tyrosine phosphorylationGO:00181089.1EGF, ERBB3, NTRK1
11positive regulation of GTPase activityGO:00435478.4EGF, ERBB3, NTRK1

Molecular functions related to Lethal Congenital Contractural Syndrome 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.8EGF, ERBB3
2Ras guanyl-nucleotide exchange factor activityGO:00050889.5EGF, ERBB3
3protein tyrosine kinase activityGO:00047138.4EGF, ERBB3, NTRK1

Sources for Lethal Congenital Contractural Syndrome 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet