MCPH25
MCID: MCR372
MIFTS: 20

Microcephaly 25, Primary, Autosomal Recessive (MCPH25)

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

Aliases & Classifications for Microcephaly 25, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 25, Primary, Autosomal Recessive:

Name: Microcephaly 25, Primary, Autosomal Recessive 57 72 29 6
Mcph25 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
one consanguineous bedouin family has been reported (last curated march 2019)


HPO:

31
microcephaly 25, primary, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM® 57 618351
OMIM Phenotypic Series 57 PS251200
MeSH 44 D008831

Summaries for Microcephaly 25, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Microcephaly 25, 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. MCPH25 patients additionally manifest global developmental delay, severe intellectual disability with speech impairment, attention deficit-hyperactivity disorder, and reduced white matter and thin corpus callosum on brain imaging.

MalaCards based summary : Microcephaly 25, Primary, Autosomal Recessive, is also known as mcph25. An important gene associated with Microcephaly 25, Primary, Autosomal Recessive is TRAPPC14 (Trafficking Protein Particle Complex Subunit 14). Affiliated tissues include eye, cortex and brain, and related phenotypes are global developmental delay and delayed speech and language development

More information from OMIM: 618351 PS251200

Related Diseases for Microcephaly 25, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 25, Primary, Autosomal Recessive

Human phenotypes related to Microcephaly 25, Primary, Autosomal Recessive:

31
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 delayed speech and language development 31 HP:0000750
3 microcephaly 31 HP:0000252
4 attention deficit hyperactivity disorder 31 HP:0007018
5 hypoplasia of the corpus callosum 31 HP:0002079

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
global developmental delay
speech delay
impaired intellectual development
thin corpus callosum
decreased white matter seen on brain imaging

Growth Height:
short stature, transient (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
attention deficit-hyperactivity disorder

Head And Neck Head:
microcephaly (-5 to -6 sd)

Clinical features from OMIM®:

618351 (Updated 20-May-2021)

Drugs & Therapeutics for Microcephaly 25, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 25, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 25, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 25, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Microcephaly 25, Primary, Autosomal Recessive 29 TRAPPC14

Anatomical Context for Microcephaly 25, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 25, Primary, Autosomal Recessive:

40
Eye, Cortex, Brain

Publications for Microcephaly 25, Primary, Autosomal Recessive

Articles related to Microcephaly 25, Primary, Autosomal Recessive:

# Title Authors PMID Year
1
Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish. 6 57
30715179 2019

Variations for Microcephaly 25, Primary, Autosomal Recessive

ClinVar genetic disease variations for Microcephaly 25, Primary, Autosomal Recessive:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRAPPC14 NM_018275.5(TRAPPC14):c.613G>T (p.Glu205Ter) SNV Pathogenic 619595 rs149225624 GRCh37: 7:99755280-99755280
GRCh38: 7:100157657-100157657
2 TRAPPC14 NM_018275.5(TRAPPC14):c.1670A>C (p.Asp557Ala) SNV Uncertain significance 1030643 GRCh37: 7:99752707-99752707
GRCh38: 7:100155084-100155084

Expression for Microcephaly 25, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 25, Primary, Autosomal Recessive.

Pathways for Microcephaly 25, Primary, Autosomal Recessive

GO Terms for Microcephaly 25, Primary, Autosomal Recessive

Sources for Microcephaly 25, 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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