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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
11 OMIM references -
12 associated genes
No signs/symptoms info
Laron syndrome with immunodeficiency
Autosomal recessive primary microcephaly

STAT5B ASPM
CASC5
CDK5RAP2
CDK6
CENPJ
CEP135
CEP152
CEP63
MCPH1
PHC1
STIL
WDR62


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
STAT5B
(0.75)
CENPJ



Citations in the biomedical literature:


Laron syndrome with immunodeficiency
STAT5B
Autosomal recessive primary microcephaly
ASPM CASC5 CDK5RAP2 CDK6 CENPJ CEP135
CEP152 CEP63 MCPH1 PHC1 STIL WDR62



Laron syndrome with immunodeficiency
Autosomal recessive primary microcephaly

Synonym(s):
- Laron-like syndrome
- Short stature due to STAT5b deficiency

Synonym(s):
- MCPH
- Microcephalia vera
- Microcephaly vera
- True microcephaly

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
11 OMIM references -
No MeSH references

No signs/symptoms info available.