MCPH23
MCID: MCR363
MIFTS: 17

Microcephaly 23, Primary, Autosomal Recessive (MCPH23)

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

Aliases & Classifications for Microcephaly 23, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 23, Primary, Autosomal Recessive:

Name: Microcephaly 23, Primary, Autosomal Recessive 58 76 6
Mcph23 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
one man of portuguese descent has been reported (last curated may 2018)


Classifications:



External Ids:

OMIM 58 617985
MeSH 45 D008831

Summaries for Microcephaly 23, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 76 Microcephaly 23, 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.

MalaCards based summary : Microcephaly 23, Primary, Autosomal Recessive, is also known as mcph23. An important gene associated with Microcephaly 23, Primary, Autosomal Recessive is NCAPH (Non-SMC Condensin I Complex Subunit H). Affiliated tissues include brain and cortex.

Description from OMIM: 617985

Related Diseases for Microcephaly 23, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 23, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
intellectual disability, moderate

Head And Neck Head:
microcephaly (-4.2 sd)

Head And Neck Face:
sloping forehead

Clinical features from OMIM:

617985

Drugs & Therapeutics for Microcephaly 23, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 23, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 23, Primary, Autosomal Recessive

Anatomical Context for Microcephaly 23, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 23, Primary, Autosomal Recessive:

42
Brain, Cortex

Publications for Microcephaly 23, Primary, Autosomal Recessive

Articles related to Microcephaly 23, Primary, Autosomal Recessive:

# Title Authors Year
1
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. ( 27737959 )
2016

Variations for Microcephaly 23, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 23, Primary, Autosomal Recessive:

76
# Symbol AA change Variation ID SNP ID
1 NCAPH p.Pro243Leu VAR_080954

ClinVar genetic disease variations for Microcephaly 23, Primary, Autosomal Recessive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NCAPH NM_015341.4(NCAPH): c.728C> T (p.Pro243Leu) single nucleotide variant Pathogenic rs1553446603 GRCh38 Chromosome 2, 96351838: 96351838
2 NCAPH NM_015341.4(NCAPH): c.728C> T (p.Pro243Leu) single nucleotide variant Pathogenic rs1553446603 GRCh37 Chromosome 2, 97017576: 97017576

Expression for Microcephaly 23, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 23, Primary, Autosomal Recessive.

Pathways for Microcephaly 23, Primary, Autosomal Recessive

GO Terms for Microcephaly 23, Primary, Autosomal Recessive

Sources for Microcephaly 23, 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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