Microcephaly-capillary malformation syndrome

Preferred Label : Microcephaly-capillary malformation syndrome;

Symbol : MICCAP;

CISMeF acronym : MICCAP;

Type : Phenotype, molecular basis known;

Description : The microcephaly-capillary malformation syndrome is a congenital disorder characterized by severe progressive microcephaly, early-onset refractory epilepsy, profound developmental delay, and multiple small capillary malformations spread diffusely on the body. Additional more variable features include dysmorphic facial features, distal limb abnormalities, and mild heart defects (summary by Carter et al., 2011 and Mirzaa et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the STAM-binding protein gene (STAMBP, 606247.0001);

Prefixed ID : #614261;

Details

Origin ID

614261;

UMLS CUI

C3280296;

Automatic exact mappings (from CISMeF team)
- STAMBP wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Microcephaly-Capillary Malformation Syndrome [NCIt concept]
- Microcephaly-capillary malformation syndrome [ORDO Disease]
- Microcephaly-capillary malformation syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Stam-binding protein [OMIM gene]
HPO term(s)
- Abnormal hair whorl [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Cerebral atrophy [HPO term]
- Cleft palate [HPO term]
- Clinodactyly [HPO term]
- Congenital onset [HPO term]
- Delayed myelination [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Hearing impairment [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypotonia [HPO term]
- Low-set ears [HPO term]
- Myoclonus [HPO term]
- Optic atrophy [HPO term]
- Patent foramen ovale [HPO term]
- Progressive microcephaly [HPO term]
- Ptosis [HPO term]
- Right ventricular hypertrophy [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Short distal phalanx of finger [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Sloping forehead [HPO term]
- Small for gestational age [HPO term]
- Small nail [HPO term]
- Spastic tetraparesis [HPO term]
- Ventricular septal defect [HPO term]
- Vesicoureteral reflux [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- Microcephaly-capillary malformation syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microcephaly-Capillary Malformation Syndrome [NCIt concept]
- Microcephaly-capillary malformation syndrome [ORDO Disease]
- Microcephaly-capillary malformation syndrome (disorder) [SNOMED CT concept]

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