MCPH24
MCID: MCR368
MIFTS: 16

Microcephaly 24, Primary, Autosomal Recessive (MCPH24)

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

Aliases & Classifications for Microcephaly 24, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 24, Primary, Autosomal Recessive:

Name: Microcephaly 24, Primary, Autosomal Recessive 58 76 6
Mcph24 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
one consanguineous pakistani family has been reported (last curated november 2018)


Classifications:



External Ids:

OMIM 58 618179
MeSH 45 D008831

Summaries for Microcephaly 24, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 76 Microcephaly 24, 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. MCPH24 patients additionally manifest mildly impaired intellectual development, cerebellar vermis hypoplasia, and fifth finger clinodactyly.

MalaCards based summary : Microcephaly 24, Primary, Autosomal Recessive, is also known as mcph24. An important gene associated with Microcephaly 24, Primary, Autosomal Recessive is NUP37 (Nucleoporin 37). Affiliated tissues include brain and cortex.

Description from OMIM: 618179

Related Diseases for Microcephaly 24, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 24, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
cerebellar vermis hypoplasia
impaired intellectual development, mild

Head And Neck Head:
microcephaly, congenital (-5 to -8 sd)

Skeletal Hands:
fifth finger clinodactyly

Clinical features from OMIM:

618179

Drugs & Therapeutics for Microcephaly 24, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 24, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 24, Primary, Autosomal Recessive

Anatomical Context for Microcephaly 24, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 24, Primary, Autosomal Recessive:

42
Brain, Cortex

Publications for Microcephaly 24, Primary, Autosomal Recessive

Variations for Microcephaly 24, Primary, Autosomal Recessive

ClinVar genetic disease variations for Microcephaly 24, Primary, Autosomal Recessive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NUP37 NM_024057.3(NUP37): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 102468197: 102468197
2 NUP37 NM_024057.3(NUP37): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 102074419: 102074419

Expression for Microcephaly 24, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 24, Primary, Autosomal Recessive.

Pathways for Microcephaly 24, Primary, Autosomal Recessive

GO Terms for Microcephaly 24, Primary, Autosomal Recessive

Sources for Microcephaly 24, 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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