MCID: MCR329
MIFTS: 32
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Microcephaly, Autosomal Dominant
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Microcephaly, Autosomal Dominant:
Name: Microcephaly, Autosomal Dominant
57
Characteristics:Orphanet epidemiological data:58
autosomal dominant primary microcephaly
Inheritance: Autosomal dominant; HPO:31Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Anatomical: Neuronal diseases Eye diseases Mental diseases
ICD10:
33
Orphanet: 58
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GARD :
20
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2514DefinitionA rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated.Visit the Orphanet disease page for more resources.
MalaCards based summary : Microcephaly, Autosomal Dominant, also known as autosomal dominant primary microcephaly, is related to microcephaly with or without chorioretinopathy, lymphedema, or mental retardation and microcephaly 18, primary, autosomal dominant. An important gene associated with Microcephaly, Autosomal Dominant is DPP6 (Dipeptidyl Peptidase Like 6), and among its related pathways/superpathways is MHC class II antigen presentation. Related phenotypes are microcephaly and short stature Disease Ontology : 12 A microcephaly that has material basis in heterozygous mutation in an autosomal gene. OMIM® : 57 Microcephaly strictly means abnormally small head size, but usually refers to an occipitofrontal head circumference below -2 SD from the mean for the infant's gestational age, sex, and ethnic origin. Microcephaly may appear as an isolated trait or in association with other malformations. It may also be sporadic or familial. Some familial cases are autosomal dominant, but most appear to be recessive (see 251200) (summary by Merlob et al., 1988). (156580) (Updated 05-Mar-2021) |
Human phenotypes related to Microcephaly, Autosomal Dominant:58 31 (show all 13)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:156580 (Updated 05-Mar-2021) |
Cochrane evidence based reviews: microcephaly autosomal dominant |
Genetic tests related to Microcephaly, Autosomal Dominant:
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Articles related to Microcephaly, Autosomal Dominant:(show all 13)
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for disease gene expression data for Microcephaly, Autosomal Dominant.
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Cellular components related to Microcephaly, Autosomal Dominant according to GeneCards Suite gene sharing:
Biological processes related to Microcephaly, Autosomal Dominant according to GeneCards Suite gene sharing:
Molecular functions related to Microcephaly, Autosomal Dominant according to GeneCards Suite gene sharing:
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