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Lethal congenital contracture syndrome type 3
2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
1 OMIM reference -
2 associated genes
No signs/symptoms info
Lethal congenital contracture syndrome type 3
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

MYBPC1
(UniProt - OMIM)
 BTK
(UniProt - OMIM)
PIP5K1C
(UniProt - OMIM)
 ELF4
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PIP5K1C
(0.65)
BTK


Citations in the biomedical literature:


Lethal congenital contracture syndrome type 3
MYBPC1 PIP5K1C
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
BTK ELF4



Lethal congenital contracture syndrome type 3
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

Synonym(s):
- LCCS3
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.