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Microcephaly-capillary malformation syndrome
1 OMIM reference -
1 associated gene
24 connected diseases
No signs/symptoms info
Disease Type of connection
Pontocerebellar hypoplasia type 8
Inflammatory myofibroblastic tumor
Translocation renal cell carcinoma
Posterior polar cataract
Congenital deficiency in alpha-fetoprotein
Hereditary persistence of alpha-fetoprotein
Autosomal dominant hypocalcemia
Bartter syndrome with hypocalcemia
Familial hypocalciuric hypercalcemia type 1
Familial isolated hypoparathyroidism due to impaired PTH secretion
Neonatal severe primary hyperparathyroidism
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Craniometaphyseal dysplasia
Hypoplastic left heart syndrome
Oculodentodigital dysplasia
Syndactyly type 3
Autosomal dominant optic atrophy and peripheral neuropathy
Autosomal recessive spastic paraplegia type 7
Gräsbeck-Imerslund disease
Autosomal dominant hypohidrotic ectodermal dysplasia
Brachydactyly type A2
Brachydactyly type C
Intermittent hydrarthrosis
TRAPS syndrome
Synonym(s):
- MIC-CAP syndrome
- MIC-CM syndrome
- Microcephaly-cutaneous capillary malformation syndrome
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
STAMBP O95630606247
No signs/symptoms info available.