MCPH23
MCID: MCR363
MIFTS: 19

Microcephaly 23, Primary, Autosomal Recessive (MCPH23)

Categories: Eye diseases, 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 57 72 29 6
Mcph23 57 72

Characteristics:

OMIM®:

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

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


HPO:

31
microcephaly 23, primary, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 617985
OMIM Phenotypic Series 57 PS251200
MeSH 44 D008831
SNOMED-CT via HPO 68 258211005 271611007 61152003

Summaries for Microcephaly 23, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 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 eye and cortex, and related phenotypes are microcephaly and intellectual disability, moderate

More information from OMIM: 617985 PS251200

Related Diseases for Microcephaly 23, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 23, Primary, Autosomal Recessive

Human phenotypes related to Microcephaly 23, Primary, Autosomal Recessive:

31
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 HP:0000252
2 intellectual disability, moderate 31 HP:0002342
3 sloping forehead 31 HP:0000340

Symptoms via clinical synopsis from OMIM®:

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

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

Genetic tests related to Microcephaly 23, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Microcephaly 23, Primary, Autosomal Recessive 29 NCAPH

Anatomical Context for Microcephaly 23, Primary, Autosomal Recessive

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

40
Eye, Cortex

Publications for Microcephaly 23, Primary, Autosomal Recessive

Articles related to Microcephaly 23, Primary, Autosomal Recessive:

# Title Authors PMID Year
1
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. 57 6
27737959 2016

Variations for Microcephaly 23, Primary, Autosomal Recessive

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NCAPH NM_015341.5(NCAPH):c.728C>T (p.Pro243Leu) SNV Pathogenic 524196 rs1553446603 GRCh37: 2:97017576-97017576
GRCh38: 2:96351838-96351838
2 NCAPH NM_015341.5(NCAPH):c.1867G>A (p.Ala623Thr) SNV Uncertain significance 1027975 GRCh37: 2:97031782-97031782
GRCh38: 2:96366044-96366044
3 NCAPH NM_015341.5(NCAPH):c.1952T>C (p.Met651Thr) SNV Uncertain significance 1027976 GRCh37: 2:97033065-97033065
GRCh38: 2:96367327-96367327

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

72
# Symbol AA change Variation ID SNP ID
1 NCAPH p.Pro243Leu VAR_080954 rs155344660

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
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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