LCCS2
MCID: LTH016
MIFTS: 36

Lethal Congenital Contractural Syndrome 2 (LCCS2) 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 52 12
Lethal Congenital Contracture Syndrome 2 52 11 48 24 70 39 13 68
Lccs2 11 48 24 54 70
Multiple Contracture Syndrome, Israeli-Bedouin Type 11 54
 
Lethal Congenital Contracture Syndrome Type 2 54 27
Israeli Bedouin Multiple Contracture Syndrome Type a 70
Multiple Contracture Syndrome, Israeli Bedouin Type 48

Characteristics:

Orphanet epidemiological data:

54
lccs2:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile

HPO:

64
lethal congenital contractural syndrome 2:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 607598
Disease Ontology11 DOID:0060560
ICD1030 Q68.8
Orphanet54 ORPHA137776
ICD10 via Orphanet31 Q68.8
MedGen37 C1843478

Summaries for Lethal Congenital Contractural Syndrome 2

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UniProtKB/Swiss-Prot:70 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 ERBB4 and Signaling by PTK6. Affiliated tissues include skeletal muscle and spinal cord, and related mouse phenotypes are Increased senescence-associated beta-galactosidase protein expression after pRB stimulation and Increased shRNA abundance (Z-score > 2).

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:52 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 & Phenotypes 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:

 64 (show all 13)
id Description HPO Frequency HPO Source Accession
1 hydronephrosis64 HP:0000126
2 micrognathia64 HP:0000347
3 edema64 HP:0000969
4 decreased fetal movement64 HP:0001558
5 polyhydramnios64 HP:0001561
6 ventricular septal defect64 HP:0001629
7 dilated cardiomyopathy64 HP:0001644
8 akinesia64 HP:0002304
9 arthrogryposis multiplex congenita64 HP:0002804
10 respiratory failure64 HP:0002878
11 skeletal muscle atrophy64 HP:0003202
12 degenerative vitreoretinopathy64 HP:0007964
13 severe myopia64 HP:0011003

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00230-A-29.9ERBB3, NTRK1
2GR00366-A-1928.1ERBB3, GLE1, NTRK1, PIP5K1C
3GR00366-A-847.8ERBB3, GLE1, NTRK1, PIP5K1C

MGI Mouse Phenotypes related to Lethal Congenital Contractural Syndrome 2 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.4EGF, ERBB3, NTRK1, PIP5K1C
2MP:00107718.4EGF, ERBB3, NTRK1, PIP5K1C

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 227 24 ERBB3

Anatomical Context for Lethal Congenital Contractural Syndrome 2

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

36
Skeletal muscle, Spinal cord

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, -8SNVPathogenic

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

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5EGF, 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
12
Show member pathways
8.2EGF, ERBB3, NTRK1, PIP5K1C
138.2EGF, ERBB3, NTRK1, PIP5K1C

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 14)
idNameGO IDScoreTop Affiliating Genes
1ERBB2 signaling pathwayGO:003812810.2EGF, ERBB3
2negative regulation of ERBB signaling pathwayGO:190118510.2EGF, ERBB3
3negative regulation of secretionGO:005104810.2EGF, ERBB3
4positive regulation of protein tyrosine kinase activityGO:006109810.1EGF, ERBB3
5regulation of cell motilityGO:200014510.1EGF, ERBB3
6negative regulation of neuron apoptotic processGO:00435249.9ERBB3, NTRK1
7activation of MAPKK activityGO:00001869.9EGF, NTRK1
8phosphatidylinositol phosphorylationGO:00468549.7EGF, ERBB3, PIP5K1C
9regulation of phosphatidylinositol 3-kinase signalingGO:00140669.5EGF, ERBB3, PIP5K1C
10peptidyl-tyrosine phosphorylationGO:00181089.4EGF, ERBB3, NTRK1
11phosphatidylinositol-mediated signalingGO:00480159.4EGF, ERBB3, NTRK1
12phosphorylationGO:00163109.4ERBB3, NTRK1, PIP5K1C
13positive regulation of GTPase activityGO:00435479.3EGF, ERBB3, NTRK1
14transmembrane receptor protein tyrosine kinase signaling pathwayGO:00071699.2ERBB3, 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:004693410.1EGF, ERBB3
2Ras guanyl-nucleotide exchange factor activityGO:000508810.0EGF, ERBB3
3kinase activityGO:00163019.3ERBB3, NTRK1, PIP5K1C
4protein tyrosine kinase activityGO:00047139.2EGF, ERBB3, NTRK1
5transmembrane receptor protein tyrosine kinase activityGO:00047149.2ERBB3, NTRK1

Sources for Lethal Congenital Contractural Syndrome 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet