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Autosomal recessive primary microcephaly
11 OMIM references -
12 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Posterior polymorphous corneal dystrophy
3 OMIM references -
3 associated genes
No signs/symptoms info
Autosomal recessive primary microcephaly
Posterior polymorphous corneal dystrophy

ASPM
(UniProt - OMIM)
 COL8A2
(UniProt - OMIM)
CASC5
(UniProt - OMIM)
 VSX1
(UniProt - OMIM)
CDK5RAP2
(UniProt - OMIM)
 ZEB1
(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
(0.7)
ZEB1


Citations in the biomedical literature:


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

Posterior polymorphous corneal dystrophy
COL8A2 VSX1 ZEB1



Autosomal recessive primary microcephaly
Posterior polymorphous corneal dystrophy

Synonym(s):
- MCPH
- Microcephalia vera
- Microcephaly vera
- True microcephaly
Synonym(s):
- PPCD
- Posterior polymorphous dystrophy
- Schlichting dystrophy
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the eye and adnexa -
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: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
11 OMIM references -
No MeSH references
External references:
3 OMIM references -
No MeSH references
No signs/symptoms info available.