MCPH24
MCID: MCR368
MIFTS: 18

Microcephaly 24, Primary, Autosomal Recessive (MCPH24)

Categories: Eye diseases, 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 57 72 29 6
Mcph24 57 72

Characteristics:

OMIM®:

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

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


HPO:

31
microcephaly 24, primary, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM® 57 618179
OMIM Phenotypic Series 57 PS251200
MeSH 44 D008831
SNOMED-CT via HPO 68 258211005 271611007

Summaries for Microcephaly 24, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 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 eye and cortex, and related phenotypes are microcephaly and clinodactyly of the 5th finger

More information from OMIM: 618179 PS251200

Related Diseases for Microcephaly 24, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 24, Primary, Autosomal Recessive

Human phenotypes related to Microcephaly 24, Primary, Autosomal Recessive:

31
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 HP:0000252
2 clinodactyly of the 5th finger 31 HP:0004209
3 cerebellar vermis hypoplasia 31 HP:0001320

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

Genetic tests related to Microcephaly 24, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Microcephaly 24, Primary, Autosomal Recessive 29 NUP37

Anatomical Context for Microcephaly 24, Primary, Autosomal Recessive

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

40
Eye, Cortex

Publications for Microcephaly 24, Primary, Autosomal Recessive

Articles related to Microcephaly 24, Primary, Autosomal Recessive:

# Title Authors PMID Year
1
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. 6 57
30179222 2018

Variations for Microcephaly 24, Primary, Autosomal Recessive

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NUP37 NM_024057.4(NUP37):c.225dup (p.Asp76Ter) Duplication Pathogenic 807643 rs1309880692 GRCh37: 12:102505941-102505942
GRCh38: 12:102112163-102112164
2 NUP37 NM_024057.4(NUP37):c.916C>T (p.Arg306Ter) SNV Likely pathogenic 590329 rs746341112 GRCh37: 12:102468197-102468197
GRCh38: 12:102074419-102074419
3 NUP37 NM_024057.4(NUP37):c.436G>A (p.Asp146Asn) SNV Uncertain significance 1028291 GRCh37: 12:102492897-102492897
GRCh38: 12:102099119-102099119

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
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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