MCPH19
MCID: MCR356
MIFTS: 20

Microcephaly 19, Primary, Autosomal Recessive (MCPH19)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Microcephaly 19, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 19, Primary, Autosomal Recessive:

Name: Microcephaly 19, Primary, Autosomal Recessive 57 75 6
Mcph19 57 12 75
Primary Autosomal Recessive Microcephaly 19 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
two siblings have been reported (last curated december 2017)


HPO:

32
microcephaly 19, primary, autosomal recessive:
Onset and clinical course progressive


Classifications:



External Ids:

OMIM 57 617800
Disease Ontology 12 DOID:0070281
MeSH 44 D008831

Summaries for Microcephaly 19, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Microcephaly 19, primary, autosomal recessive: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH19 affected individuals manifest severe developmental delay, failure to thrive, cortical blindness, and spasticity. Brain imaging show a simplified gyral pattern, thin corpus callosum, slight ventricular dilation, and delayed myelination.

MalaCards based summary : Microcephaly 19, Primary, Autosomal Recessive, is also known as mcph19. An important gene associated with Microcephaly 19, Primary, Autosomal Recessive is COPB2 (Coatomer Protein Complex Subunit Beta 2). Affiliated tissues include brain and cortex, and related phenotypes are spasticity and global developmental delay

Disease Ontology : 12 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23.

Description from OMIM: 617800

Symptoms & Phenotypes for Microcephaly 19, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
delayed myelination
enlarged ventricles
developmental delay, severe
thin corpus callosum
more
Growth Height:
normal height

Head And Neck Eyes:
cortical blindness

Growth Other:
failure to thrive

Growth Weight:
low weight

Head And Neck Head:
microcephaly, primary (up to -8.2 sd)


Clinical features from OMIM:

617800

Human phenotypes related to Microcephaly 19, Primary, Autosomal Recessive:

32
# Description HPO Frequency HPO Source Accession
1 spasticity 32 HP:0001257
2 global developmental delay 32 HP:0001263
3 ventriculomegaly 32 HP:0002119
4 hypoplasia of the corpus callosum 32 HP:0002079
5 delayed myelination 32 HP:0012448

Drugs & Therapeutics for Microcephaly 19, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 19, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 19, Primary, Autosomal Recessive

Anatomical Context for Microcephaly 19, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 19, Primary, Autosomal Recessive:

41
Brain, Cortex

Publications for Microcephaly 19, Primary, Autosomal Recessive

Variations for Microcephaly 19, Primary, Autosomal Recessive

ClinVar genetic disease variations for Microcephaly 19, Primary, Autosomal Recessive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COPB2 NM_004766.2(COPB2): c.760C> T (p.Arg254Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 139092642: 139092642
2 COPB2 NM_004766.2(COPB2): c.760C> T (p.Arg254Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 139373800: 139373800

Expression for Microcephaly 19, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 19, Primary, Autosomal Recessive.

Pathways for Microcephaly 19, Primary, Autosomal Recessive

GO Terms for Microcephaly 19, Primary, Autosomal Recessive

Sources for Microcephaly 19, Primary, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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