Microcephaly 1, primary, autosomal recessive

Preferred Label : Microcephaly 1, primary, autosomal recessive;

Symbol : MCPH1;

CISMeF acronym : MCPH1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Premature chromosome condensation syndrome; Premature chromosome condensation with microcephaly and mental retardation; Pcc syndrome;

Description : Primary microcephaly refers to the clinical finding of a head circumference less than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. MCPH is associated with a simplification of the cerebral cortical gyral pattern and a slight reduction in the volume of the white matter, consistent with the small size of the brain, but the architecture of the brain in general is normal, with no evidence of a neuronal migration defect (review by Woods et al., 2005). Most cases of primary microcephaly show an autosomal recessive mode of inheritance. Because MCPH directly affects neurogenesis, or neurogenic mitosis, rather than growth of the skull, some prefer the term 'micrencephaly' (Hofman, 1984).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the microcephalin gene (MCPH1, 607117.0001);

Laboratory abnormalities : Premature chromosome condensation;

Prefixed ID : #251200;

Details

Origin ID

251200;

UMLS CUI

C1855081;

Automatic exact mappings (from CISMeF team)
- MCPH1 Gene [NCIt concept]
- Microcephalin [NCIt concept]
- PCC syndrome [PASCAL descriptor]
- Premature chromosome condensation with microcephaly and intellectual disability [ORDO Disease]
- microcephalin 1 [HGNC gene]
- microcephalin 1 [ORDO Gene]
- microcephaly, primary autosomal recessive, 1 [MeSH concept]
- microcephaly, primary autosomal recessive, 1 [MeSH Supplementary Concept]
- primary autosomal recessive microcephaly 1 [DO Concept]
Broader ORDO disease(s)
- Autosomal recessive primary microcephaly [ORDO Disease]
DO Cross reference
- primary autosomal recessive microcephaly 1 [DO Concept]
Genes related to phenotype
- Microcephalin 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Disproportionately small cerebral cortex [HPO term]
- Increased rate of premature chromosome condensation [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Small cerebral cortex [HPO term]
ORDO concept(s)
- Autosomal recessive primary microcephaly [ORDO Disease]
- Premature chromosome condensation with microcephaly and intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- microcephaly, primary autosomal recessive, 1 [MeSH Supplementary Concept]
- microcephaly, primary autosomal recessive, 1 [MeSH concept]
Validated automatic mappings to NTBT
- Autosomal recessive primary microcephaly [ORDO Disease]
- Isolated congenital microcephaly [ORDO Disease]

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