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Autosomal recessive primary microcephaly
11 OMIM references -
12 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
Well-differentiated liposarcoma
3 associated genes
4 signs/symptoms
Autosomal recessive primary microcephaly
Well-differentiated liposarcoma

ASPM
(UniProt - OMIM)
 CDK4
(UniProt - OMIM)
CASC5
(UniProt - OMIM)
 HMGA2
(UniProt - OMIM)
CDK5RAP2
(UniProt - OMIM)
 MDM2
(UniProt - OMIM)
CDK6
(UniProt - OMIM)
CENPJ
(UniProt - OMIM)
CEP135
(UniProt - OMIM)
CEP152
(UniProt - OMIM)
CEP63
(UniProt - OMIM)
MCPH1
(UniProt - OMIM)
PHC1
(UniProt - OMIM)
STIL
(UniProt - OMIM)
WDR62
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CDK6
ASPM
(0.72)
(0.63)
CDK4
CDK4


Citations in the biomedical literature:


Autosomal recessive primary microcephaly
ASPM CASC5 CDK5RAP2 CDK6 CENPJ CEP135
CEP152 CEP63 MCPH1 PHC1 STIL WDR62

Well-differentiated liposarcoma
CDK4 HMGA2 MDM2



Autosomal recessive primary microcephaly
Well-differentiated liposarcoma

Synonym(s):
- MCPH
- Microcephalia vera
- Microcephaly vera
- True microcephaly
Synonym(s):
- ALT
- Atypical lipoma
- Atypical lipomatous tumor
- WDLS
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: adult
Type of inheritance: sporadic
External references:
11 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references
Well-differentiated liposarcoma

Very frequent
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling

Occasional
- Functional anomalies of the kidney and the urinary tract
- Intestinal transit disorder


Autosomal recessive primary microcephaly

(no data available)