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

Aliases & Descriptions for Lethal Congenital Contractural Syndrome 2:

Name: Lethal Congenital Contractural Syndrome 2 54 13
Lethal Congenital Contracture Syndrome 2 54 12 50 24 66 42 14 69
Lccs2 12 50 24 56 66
Multiple Contracture Syndrome, Israeli-Bedouin Type 12 56
Lethal Congenital Contracture Syndrome Type 2 56 29
Israeli Bedouin Multiple Contracture Syndrome Type a 66
Multiple Contracture Syndrome, Israeli Bedouin Type 50

Characteristics:

Orphanet epidemiological data:

56
lethal congenital contracture syndrome type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile;

HPO:

32
lethal congenital contractural syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 607598
Disease Ontology 12 DOID:0060560
ICD10 33 Q68.8
Orphanet 56 ORPHA137776
ICD10 via Orphanet 34 Q68.8
MedGen 40 C1843478

Summaries for Lethal Congenital Contractural Syndrome 2

UniProtKB/Swiss-Prot : 66 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 edema, skeletal muscle atrophy and micrognathia. An important gene associated with Lethal Congenital Contractural Syndrome 2 is ERBB3 (Erb-B2 Receptor Tyrosine Kinase 3), and among its related pathways/superpathways are Actin Nucleation by ARP-WASP Complex and GAB1 signalosome. Affiliated tissues include skeletal muscle and spinal cord, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and integument

Disease Ontology : 12 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: 607598

Related Diseases for Lethal Congenital Contractural Syndrome 2

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:

id Related Disease Score Top Affiliating Genes
1 lethal congenital contracture syndrome 1 10.8
2 lethal congenital contractural syndrome 3 10.8
3 premature menopause 10.0 EGF ERBB3
4 lethal congenital contracture syndrome 10.0
5 congenital contractures 10.0
6 keratoconus 6 9.8 GLE1 PIP5K1C
7 spinal disease 9.7 ERBB3 GLE1 PIP5K1C
8 muscular dystrophy, congenital, due to itga7 deficiency 9.2 EGF ERBB3 GLE1 NTRK1 PIP5K1C

Graphical network of the top 20 diseases related to Lethal Congenital Contractural Syndrome 2:



Diseases related to Lethal Congenital Contractural Syndrome 2

Symptoms & Phenotypes for Lethal Congenital Contractural Syndrome 2

Symptoms by clinical synopsis from OMIM:

607598

Clinical features from OMIM:

607598

Human phenotypes related to Lethal Congenital Contractural Syndrome 2:

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 edema 32 HP:0000969
2 skeletal muscle atrophy 32 HP:0003202
3 micrognathia 32 HP:0000347
4 arthrogryposis multiplex congenita 32 HP:0002804
5 respiratory failure 32 HP:0002878
6 polyhydramnios 32 HP:0001561
7 ventricular septal defect 32 HP:0001629
8 decreased fetal movement 32 HP:0001558
9 hydronephrosis 32 HP:0000126
10 dilated cardiomyopathy 32 HP:0001644
11 severe myopia 32 HP:0011003
12 akinesia 32 HP:0002304
13 degenerative vitreoretinopathy 32 HP:0007964

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10 GLE1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 10 PIP5K1C
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10 ERBB3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10 NTRK1 PIP5K1C
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10 NTRK1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10 ERBB3
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 10 GLE1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10 ERBB3 GLE1 NTRK1 PIP5K1C
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10 ERBB3 NTRK1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.66 PIP5K1C
11 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.66 ERBB3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.66 PIP5K1C
13 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.66 GLE1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.66 ERBB3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.66 NTRK1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.66 PIP5K1C
17 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.66 PIP5K1C
18 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.66 GLE1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.66 PIP5K1C
20 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.66 ERBB3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.66 GLE1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.66 NTRK1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.66 PIP5K1C
24 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.66 NTRK1 PIP5K1C
25 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.66 NTRK1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.66 PIP5K1C
27 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.66 GLE1 NTRK1 PIP5K1C ERBB3
28 Increased senescence-associated beta-galactosidase protein expression after pRB stimulation GR00230-A-2 8.96 ERBB3 NTRK1

MGI Mouse Phenotypes related to Lethal Congenital Contractural Syndrome 2:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.26 EGF ERBB3 NTRK1 PIP5K1C
2 normal MP:0002873 8.92 ERBB3 NTRK1 PIP5K1C EGF

Drugs & Therapeutics for Lethal Congenital Contractural Syndrome 2

Search Clinical Trials , 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

Genetic tests related to Lethal Congenital Contractural Syndrome 2:

id Genetic test Affiliating Genes
1 Lethal Congenital Contracture Syndrome 2 29 24 ERBB3

Anatomical Context for Lethal Congenital Contractural Syndrome 2

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

39
Skeletal Muscle, Spinal Cord

Publications for Lethal Congenital Contractural Syndrome 2

Variations for Lethal Congenital Contractural Syndrome 2

ClinVar genetic disease variations for Lethal Congenital Contractural Syndrome 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ERBB3 ERBB3, IVS10, A-G, -8 single nucleotide variant Pathogenic

Expression for Lethal Congenital Contractural Syndrome 2

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

Pathways for Lethal Congenital Contractural Syndrome 2

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

(show all 13)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.52 ERBB3 NTRK1 PIP5K1C
2
Show member pathways
12.39 EGF ERBB3 NTRK1 PIP5K1C
3
Show member pathways
12.27 EGF ERBB3 PIP5K1C
4
Show member pathways
11.64 EGF ERBB3
5
Show member pathways
11.53 EGF ERBB3
6
Show member pathways
11.37 EGF NTRK1
7 11.34 EGF ERBB3 NTRK1 PIP5K1C
8 11.28 EGF ERBB3 NTRK1
9 11.23 EGF ERBB3 NTRK1
10 11.09 ERBB3 NTRK1
11 11.01 EGF PIP5K1C
12 10.81 EGF ERBB3
13 10.65 EGF PIP5K1C

GO Terms for Lethal Congenital Contractural Syndrome 2

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

id Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.8 EGF ERBB3 NTRK1

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.7 ERBB3 NTRK1 PIP5K1C
2 positive regulation of GTPase activity GO:0043547 9.67 EGF ERBB3 NTRK1
3 negative regulation of neuron apoptotic process GO:0043524 9.54 ERBB3 NTRK1
4 peptidyl-tyrosine phosphorylation GO:0018108 9.54 EGF ERBB3 NTRK1
5 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.51 ERBB3 NTRK1
6 activation of MAPKK activity GO:0000186 9.48 EGF NTRK1
7 ERBB2 signaling pathway GO:0038128 9.46 EGF ERBB3
8 positive regulation of protein tyrosine kinase activity GO:0061098 9.43 EGF ERBB3
9 phosphatidylinositol-mediated signaling GO:0048015 9.43 EGF ERBB3 NTRK1
10 regulation of cell motility GO:2000145 9.4 EGF ERBB3
11 phosphatidylinositol phosphorylation GO:0046854 9.33 EGF ERBB3 PIP5K1C
12 negative regulation of ERBB signaling pathway GO:1901185 9.32 EGF ERBB3
13 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.13 EGF ERBB3 PIP5K1C
14 negative regulation of secretion GO:0051048 8.62 EGF ERBB3

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

id Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.5 ERBB3 NTRK1 PIP5K1C
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.26 EGF ERBB3
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.16 EGF ERBB3
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 8.96 ERBB3 NTRK1
5 protein tyrosine kinase activity GO:0004713 8.8 EGF ERBB3 NTRK1

Sources for Lethal Congenital Contractural Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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