Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Microcephaly-capillary malformation syndrome
Autosomal dominant optic atrophy and peripheral neuropathy

STAMBP SPG7


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
STAMBP
(0.63)
SPG7



Citations in the biomedical literature:


Microcephaly-capillary malformation syndrome
STAMBP
Autosomal dominant optic atrophy and peripheral neuropathy
SPG7



Microcephaly-capillary malformation syndrome
Autosomal dominant optic atrophy and peripheral neuropathy

Synonym(s):
- MIC-CAP syndrome
- MIC-CM syndrome
- Microcephaly-cutaneous capillary malformation syndrome

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.