MCPH19
MCID: MCR356
MIFTS: 29

Microcephaly 19, Primary, Autosomal Recessive (MCPH19)

Categories: Eye diseases, 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 72 29 6
Mcph19 57 12 72
Primary Autosomal Recessive Microcephaly 19 12 15

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
microcephaly 19, primary, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0070281
OMIM® 57 617800
OMIM Phenotypic Series 57 PS251200
MeSH 44 D008831

Summaries for Microcephaly 19, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 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, also known as mcph19, is related to stromme syndrome and seckel syndrome 6. An important gene associated with Microcephaly 19, Primary, Autosomal Recessive is COPB2 (COPI Coat Complex Subunit Beta 2). Affiliated tissues include cortex and brain, 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.

More information from OMIM: 617800 PS251200

Related Diseases for Microcephaly 19, Primary, Autosomal Recessive

Diseases in the Microcephaly family:

Microcephaly, Autosomal Dominant Microcephaly 1, Primary, Autosomal Recessive
Microcephaly 4, Primary, Autosomal Recessive Microcephaly 3, Primary, Autosomal Recessive
Microcephaly 6, Primary, Autosomal Recessive Microcephaly 5, Primary, Autosomal Recessive
Microcephaly 7, Primary, Autosomal Recessive Microcephaly 8, Primary, Autosomal Recessive
Microcephaly 9, Primary, Autosomal Recessive Microcephaly 10, Primary, Autosomal Recessive
Microcephaly 11, Primary, Autosomal Recessive Microcephaly 13, Primary, Autosomal Recessive
Microcephaly 12, Primary, Autosomal Recessive Microcephaly 14, Primary, Autosomal Recessive
Microcephaly 16, Primary, Autosomal Recessive Microcephaly 17, Primary, Autosomal Recessive
Microcephaly 18, Primary, Autosomal Dominant Microcephaly 19, Primary, Autosomal Recessive
Microcephaly 20, Primary, Autosomal Recessive Microcephaly 21, Primary, Autosomal Recessive
Microcephaly 22, Primary, Autosomal Recessive Microcephaly 23, Primary, Autosomal Recessive
Microcephaly 24, Primary, Autosomal Recessive Microcephaly 25, Primary, Autosomal Recessive
Microcephaly 26, Primary, Autosomal Dominant Microcephaly 27, Primary, Autosomal Dominant
Primary Autosomal Recessive Microcephaly Primary Microcephaly

Diseases related to Microcephaly 19, Primary, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 stromme syndrome 10.0 COPB2 CEP57
2 seckel syndrome 6 9.9 CEP57 CEP152
3 microcephaly 13, primary, autosomal recessive 9.9 RTTN CEP152
4 microcephaly 3, primary, autosomal recessive 9.8 RTTN CEP152
5 microcephaly 5, primary, autosomal recessive 9.8 RTTN CEP152
6 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.8 RTTN CEP152
7 mosaic variegated aneuploidy syndrome 9.8 CEP57 CEP152
8 microcephaly 18, primary, autosomal dominant 9.8 WDFY3 SHISA5 CEP152
9 microcephaly 6, primary, autosomal recessive 9.8 RTTN CEP152
10 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities 9.7 SHISA5 RTTN CEP152
11 isolated growth hormone deficiency, type ia 9.7 RTTN CEP152
12 microcephaly 14, primary, autosomal recessive 9.7 SHISA5 RTTN CEP152
13 primary microcephaly 9.6 RTTN CEP152
14 microcephaly 9.2 WDFY3 RTTN COPB2 CEP57 CEP152
15 primary autosomal recessive microcephaly 9.2 WDFY3 RTTN COPB2 CEP57 CEP152

Graphical network of the top 20 diseases related to Microcephaly 19, Primary, Autosomal Recessive:



Diseases related to Microcephaly 19, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 19, Primary, Autosomal Recessive

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

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 global developmental delay 31 HP:0001263
3 microcephaly 31 HP:0000252
4 failure to thrive in infancy 31 HP:0001531
5 ventriculomegaly 31 HP:0002119
6 hypoplasia of the corpus callosum 31 HP:0002079
7 cerebral visual impairment 31 HP:0100704
8 delayed myelination 31 HP:0012448
9 simplified gyral pattern 31 HP:0009879

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

Genetic tests related to Microcephaly 19, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Microcephaly 19, Primary, Autosomal Recessive 29 COPB2

Anatomical Context for Microcephaly 19, Primary, Autosomal Recessive

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

40
Cortex, Brain

Publications for Microcephaly 19, Primary, Autosomal Recessive

Articles related to Microcephaly 19, Primary, Autosomal Recessive:

# Title Authors PMID Year
1
Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. 6 57
29036432 2017

Variations for Microcephaly 19, Primary, Autosomal Recessive

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COPB2 NM_004766.3(COPB2):c.760C>T (p.Arg254Cys) SNV Pathogenic 446713 rs1229568621 GRCh37: 3:139092642-139092642
GRCh38: 3:139373800-139373800
2 COPB2 NM_004766.3(COPB2):c.651+1G>T SNV Pathogenic 1032934 GRCh37: 3:139094309-139094309
GRCh38: 3:139375467-139375467

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

Cellular components related to Microcephaly 19, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.13 RTTN CEP57 CEP152
2 microtubule organizing center GO:0005815 8.8 RTTN CEP57 CEP152

Biological processes related to Microcephaly 19, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.16 CEP57 CEP152
2 regulation of G2/M transition of mitotic cell cycle GO:0010389 8.96 CEP57 CEP152
3 centriole replication GO:0007099 8.62 RTTN CEP152

Sources for Microcephaly 19, Primary, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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