Microcephaly 5, primary, autosomal recessive

Preferred Label : Microcephaly 5, primary, autosomal recessive;

Symbol : MCPH5;

CISMeF acronym : MCPH5;

Type : Phenotype, molecular basis known;

Description : Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by decreased occipital-frontal (OFC) circumference, usually less than 3 standard deviations (SD) of the mean, present at birth and associated with mental retardation and speech delay. Other features may include short stature or mild seizures. MCPH5 is associated with a simplification of the cerebral cortical gyral pattern in some cases, which is considered within the phenotypic spectrum of primary microcephaly (review by Woods et al., 2005; Saadi et al., 2009; Passemard et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly (MCPH), see MCPH1 (251200).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the abnormal spindle-like, microcephaly-associated gene (ASPM, 605481.0001);

Prefixed ID : #608716;

Details

Origin ID

608716;

UMLS CUI

C1837501;

Automatic exact mappings (from CISMeF team)
- ASPM wt Allele [NCIt concept]
- microcephaly, primary autosomal recessive, 5 [MeSH concept]
- microcephaly, primary autosomal recessive, 5 [MeSH Supplementary Concept]
- primary autosomal recessive microcephaly 5 [DO Concept]
- symbol withdrawn MCPH5 [HGNC gene]
Broader ORDO disease(s)
- Autosomal recessive primary microcephaly [ORDO Disease]
DO Cross reference
- primary autosomal recessive microcephaly 5 [DO Concept]
Genes related to phenotype
- Abnormal spindle-like, microcephaly-associated [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Congenital onset [HPO term]
- Cortical dysplasia [HPO term]
- Delayed speech and language development [HPO term]
- Hearing impairment [HPO term]
- Highly arched eyebrow [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
- Narrow forehead [HPO term]
- Proptosis [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Simplified gyral pattern [HPO term]
- Sloping forehead [HPO term]
- Small cerebral cortex [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Autosomal recessive primary microcephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- microcephaly, primary autosomal recessive, 5 [MeSH Supplementary Concept]
- microcephaly, primary autosomal recessive, 5 [MeSH concept]
Validated automatic mappings to NTBT
- Autosomal recessive primary microcephaly [ORDO Disease]
- Isolated congenital microcephaly [ORDO Disease]

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