MCPH21
MCID: MCR361
MIFTS: 19

Microcephaly 21, Primary, Autosomal Recessive (MCPH21)

Categories: Eye diseases, 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 72 29 6
Mcph21 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
microcephaly 21, primary, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 617983
OMIM Phenotypic Series 57 PS251200
MeSH 44 D008831

Summaries for Microcephaly 21, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 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 cortex, and related phenotypes are microcephaly and short stature

More information from OMIM: 617983 PS251200

Related Diseases for Microcephaly 21, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 21, Primary, Autosomal Recessive

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

31
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 HP:0000252
2 short stature 31 HP:0004322
3 absent speech 31 HP:0001344
4 intellectual disability, moderate 31 HP:0002342
5 sloping forehead 31 HP:0000340

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Height:
short stature

Head And Neck Face:
sloping forehead

Growth Other:
poor overall growth

Neurologic Central Nervous System:
absent speech
intellectual disability, moderate

Neurologic Behavioral Psychiatric Manifestations:
autistic features

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

Clinical features from OMIM®:

617983 (Updated 05-Apr-2021)

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

Genetic tests related to Microcephaly 21, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Microcephaly 21, Primary, Autosomal Recessive 29 NCAPD2

Anatomical Context for Microcephaly 21, Primary, Autosomal Recessive

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

40
Cortex

Publications for Microcephaly 21, Primary, Autosomal Recessive

Articles related to Microcephaly 21, Primary, Autosomal Recessive:

# Title Authors PMID Year
1
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. 6 57
27737959 2016
2
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders. 57
28097321 2017

Variations for Microcephaly 21, Primary, Autosomal Recessive

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NCAPD2 NM_014865.4(NCAPD2):c.4120+2T>C SNV Pathogenic 524202 rs1555141158 GRCh37: 12:6640244-6640244
GRCh38: 12:6531078-6531078
2 NCAPD2 NM_014865.4(NCAPD2):c.1166C>T (p.Thr389Ile) SNV Uncertain significance 1030382 GRCh37: 12:6626172-6626172
GRCh38: 12:6517006-6517006
3 NCAPD2 NM_014865.4(NCAPD2):c.1526A>G (p.Asn509Ser) SNV Uncertain significance 1030383 GRCh37: 12:6627062-6627062
GRCh38: 12:6517896-6517896
4 NCAPD2 NM_014865.4(NCAPD2):c.3830A>T (p.Glu1277Val) SNV Uncertain significance 1030435 GRCh37: 12:6639117-6639117
GRCh38: 12:6529951-6529951

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 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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