MCPH21
MCID: MCR361
MIFTS: 17

Microcephaly 21, Primary, Autosomal Recessive (MCPH21)

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

Aliases & Classifications for Microcephaly 21, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 21, Primary, Autosomal Recessive:

Name: Microcephaly 21, Primary, Autosomal Recessive 57 75 6
Mcph21 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
one boy of indian descent has been reported (last curated may 2018)


Classifications:



External Ids:

OMIM 57 617983
MedGen 42 CN244930
MeSH 44 D008831
SNOMED-CT via HPO 69 61152003

Summaries for Microcephaly 21, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Microcephaly 21, 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. MCPH21 features include mild intellectual disability, intrauterine growth retardation, short stature, and microcephaly.

MalaCards based summary : Microcephaly 21, Primary, Autosomal Recessive, is also known as mcph21. An important gene associated with Microcephaly 21, Primary, Autosomal Recessive is NCAPD2 (Non-SMC Condensin I Complex Subunit D2). Affiliated tissues include brain and cortex, and related phenotypes are absent speech and intellectual disability, moderate

Description from OMIM: 617983

Symptoms & Phenotypes for Microcephaly 21, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Head And Neck Face:
sloping forehead

Head And Neck Head:
microcephaly (up to -11 sd)

Neurologic Central Nervous System:
absent speech
intellectual disability, moderate

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Growth Other:
poor overall growth


Clinical features from OMIM:

617983

Human phenotypes related to Microcephaly 21, Primary, Autosomal Recessive:

32
# Description HPO Frequency HPO Source Accession
1 absent speech 32 HP:0001344
2 intellectual disability, moderate 32 HP:0002342

Drugs & Therapeutics for Microcephaly 21, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 21, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 21, Primary, Autosomal Recessive

Anatomical Context for Microcephaly 21, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 21, Primary, Autosomal Recessive:

41
Brain, Cortex

Publications for Microcephaly 21, Primary, Autosomal Recessive

Variations for Microcephaly 21, Primary, Autosomal Recessive

ClinVar genetic disease variations for Microcephaly 21, Primary, Autosomal Recessive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NCAPD2 NM_014865.3(NCAPD2): c.4120+2T> C single nucleotide variant Pathogenic GRCh38 Chromosome 12, 6531078: 6531078
2 NCAPD2 NM_014865.3(NCAPD2): c.4120+2T> C single nucleotide variant Pathogenic GRCh37 Chromosome 12, 6640244: 6640244

Expression for Microcephaly 21, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 21, Primary, Autosomal Recessive.

Pathways for Microcephaly 21, Primary, Autosomal Recessive

GO Terms for Microcephaly 21, Primary, Autosomal Recessive

Sources for Microcephaly 21, Primary, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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