MCID: LTH016
MIFTS: 38

Lethal Congenital Contractural Syndrome 2 malady

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Lethal Congenital Contractural Syndrome 2

About this section

Aliases & Descriptions for Lethal Congenital Contractural Syndrome 2:

Name: Lethal Congenital Contractural Syndrome 2 50 12
Lethal Congenital Contracture Syndrome 2 50 11 46 23 13 68 66
Lccs2 11 46 23 52 68
Multiple Contracture Syndrome, Israeli-Bedouin Type 11 52
 
Lethal Congenital Contracture Syndrome Type 2 52 25
Israeli Bedouin Multiple Contracture Syndrome Type a 68
Multiple Contracture Syndrome, Israeli Bedouin Type 46

Characteristics:

Orphanet epidemiological data:

52
lccs2:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile

HPO:

62
lethal congenital contractural syndrome 2:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 607598
Disease Ontology11 DOID:0060560
ICD1028 Q68.8
Orphanet52 ORPHA137776
ICD10 via Orphanet29 Q68.8
MedGen35 C1843478

Summaries for Lethal Congenital Contractural Syndrome 2

About this section
UniProtKB/Swiss-Prot:68 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 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 EGFR Signaling Pathway and Signaling by PTK6. 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 caused by homozygous mutation in the erbb3 gene on chromosome 12q13, and has material basis in autosomal recessive inheritance.

Description from OMIM:50 607598

Related Diseases for Lethal Congenital Contractural Syndrome 2

About this section

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

About this section

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

About this section

Interventional clinical trials:

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

Genetic Tests for Lethal Congenital Contractural Syndrome 2

About this section

Genetic tests related to Lethal Congenital Contractural Syndrome 2:

id Genetic test Affiliating Genes
1 Lethal Congenital Contracture Syndrome 225 23 ERBB3

Anatomical Context for Lethal Congenital Contractural Syndrome 2

About this section

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

34
Skeletal muscle, Spinal cord

Animal Models for Lethal Congenital Contractural Syndrome 2 or affiliated genes

About this section

MGI Mouse Phenotypes related to Lethal Congenital Contractural Syndrome 2:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.7EGF, ERBB3, NTRK1, PIP5K1C
2MP:00028738.4EGF, ERBB3, NTRK1, PIP5K1C

Publications for Lethal Congenital Contractural Syndrome 2

About this section

Variations for Lethal Congenital Contractural Syndrome 2

About this section

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

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

Pathways for genes affiliated with Lethal Congenital Contractural Syndrome 2

About this section

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

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
19.5EGF, ERBB3
2
Show member pathways
9.5EGF, ERBB3
39.5EGF, ERBB3
49.4EGF, PIP5K1C
59.4EGF, PIP5K1C
69.2ERBB3, NTRK1
7
Show member pathways
9.1EGF, NTRK1
8
Show member pathways
9.0EGF, ERBB3, PIP5K1C
9
Show member pathways
8.7ERBB3, NTRK1, PIP5K1C
108.7EGF, ERBB3, NTRK1
118.7EGF, ERBB3, NTRK1
128.2EGF, ERBB3, NTRK1, PIP5K1C
13
Show member pathways
8.2EGF, ERBB3, NTRK1, PIP5K1C

GO Terms for genes affiliated with Lethal Congenital Contractural Syndrome 2

About this section

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
4positive regulation of protein tyrosine kinase activityGO:00610989.8EGF, ERBB3
5activation of MAPKK activityGO:00001869.6EGF, NTRK1
6phosphatidylinositol phosphorylationGO:00468549.5EGF, ERBB3, PIP5K1C
7regulation of phosphatidylinositol 3-kinase signalingGO:00140669.5EGF, ERBB3, PIP5K1C
8negative regulation of neuron apoptotic processGO:00435249.2ERBB3, NTRK1
9phosphatidylinositol-mediated signalingGO:00480159.1EGF, ERBB3, NTRK1
10peptidyl-tyrosine phosphorylationGO:00181089.0EGF, ERBB3, NTRK1
11positive regulation of GTPase activityGO:00435478.7EGF, 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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet