MCPH25
MCID: MCR372
MIFTS: 15

Microcephaly 25, Primary, Autosomal Recessive (MCPH25)

Categories: 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 58 6
Mcph25 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 58 618351

Summaries for Microcephaly 25, Primary, Autosomal Recessive

MalaCards based summary : Microcephaly 25, Primary, Autosomal Recessive, is also known as mcph25. An important gene associated with Microcephaly 25, Primary, Autosomal Recessive is MAP11 (Microtubule Associated Protein 11). Affiliated tissues include brain.

Description from OMIM: 618351

Related Diseases for Microcephaly 25, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 25, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
global developmental delay
speech delay
thin corpus callosum
impaired intellectual development
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

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

Anatomical Context for Microcephaly 25, Primary, Autosomal Recessive

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

42
Brain

Publications for Microcephaly 25, Primary, Autosomal Recessive

Articles related to Microcephaly 25, Primary, Autosomal Recessive:

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

Variations for Microcephaly 25, Primary, Autosomal Recessive

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MAP11 NM_001303470.1(MAP11): c.-195G> T single nucleotide variant Pathogenic GRCh37 Chromosome 7, 99755280: 99755280
2 MAP11 NM_001303470.1(MAP11): c.-195G> T single nucleotide variant Pathogenic GRCh38 Chromosome 7, 100157657: 100157657

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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