MCPH22
MCID: MCR362
MIFTS: 20

Microcephaly 22, Primary, Autosomal Recessive (MCPH22)

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

Aliases & Classifications for Microcephaly 22, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 22, Primary, Autosomal Recessive:

Name: Microcephaly 22, Primary, Autosomal Recessive 57 72 29 6
Mcph22 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
two unrelated patients have been reported (last curated may 2018)


HPO:

31
microcephaly 22, primary, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 617984
OMIM Phenotypic Series 57 PS251200
MeSH 44 D008831

Summaries for Microcephaly 22, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Microcephaly 22, 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 22, Primary, Autosomal Recessive, is also known as mcph22. An important gene associated with Microcephaly 22, Primary, Autosomal Recessive is NCAPD3 (Non-SMC Condensin II Complex Subunit D3). Affiliated tissues include cortex, and related phenotypes are microcephaly and short stature

More information from OMIM: 617984 PS251200

Related Diseases for Microcephaly 22, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 22, Primary, Autosomal Recessive

Human phenotypes related to Microcephaly 22, Primary, Autosomal Recessive:

31
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 HP:0000252
2 short stature 31 HP:0004322
3 limb hypertonia 31 HP:0002509
4 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
poor overall growth

Head And Neck Head:
microcephaly (up to -5 sd)

Neurologic Peripheral Nervous System:
limb hypertonia (patient b)

Growth Height:
short stature (patient a)

Neurologic Central Nervous System:
developmental delay, moderate (patient b)
seizures (patient b)
normal development (patient a)

Neoplasia:
malignant anaplastic medulloblastoma (patient a)

Clinical features from OMIM®:

617984 (Updated 05-Apr-2021)

Drugs & Therapeutics for Microcephaly 22, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 22, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 22, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 22, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Microcephaly 22, Primary, Autosomal Recessive 29 NCAPD3

Anatomical Context for Microcephaly 22, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 22, Primary, Autosomal Recessive:

40
Cortex

Publications for Microcephaly 22, Primary, Autosomal Recessive

Articles related to Microcephaly 22, 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

Variations for Microcephaly 22, Primary, Autosomal Recessive

ClinVar genetic disease variations for Microcephaly 22, Primary, Autosomal Recessive:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NCAPD3 NM_015261.3(NCAPD3):c.1783del (p.Val595fs) Deletion Pathogenic 524197 rs1555139372 GRCh37: 11:134063952-134063952
GRCh38: 11:134194057-134194057
2 NCAPD3 NM_015261.3(NCAPD3):c.382+14A>G SNV Pathogenic 524198 rs1555143325 GRCh37: 11:134086816-134086816
GRCh38: 11:134216922-134216922
3 NCAPD3 NM_015261.3(NCAPD3):c.3458A>C (p.Glu1153Ala) SNV Pathogenic 524199 rs1350194762 GRCh37: 11:134038006-134038006
GRCh38: 11:134168111-134168111
4 NCAPD3 NM_015261.3(NCAPD3):c.2989C>T (p.Gln997Ter) SNV Pathogenic 997503 GRCh37: 11:134047146-134047146
GRCh38: 11:134177251-134177251
5 NCAPD3 NM_015261.3(NCAPD3):c.1801C>T (p.Gln601Ter) SNV Pathogenic 1031888 GRCh37: 11:134063934-134063934
GRCh38: 11:134194039-134194039
6 NCAPD3 NM_015261.3(NCAPD3):c.3278_3281del (p.Lys1093fs) Deletion Pathogenic 1032666 GRCh37: 11:134038456-134038459
GRCh38: 11:134168561-134168564
7 NCAPD3 NM_015261.3(NCAPD3):c.2062G>T (p.Ala688Ser) SNV Uncertain significance 1031889 GRCh37: 11:134055405-134055405
GRCh38: 11:134185510-134185510
8 NCAPD3 NM_015261.3(NCAPD3):c.1000G>A (p.Ala334Thr) SNV Uncertain significance 1029372 GRCh37: 11:134076510-134076510
GRCh38: 11:134206615-134206615
9 NCAPD3 NM_015261.3(NCAPD3):c.1018G>A (p.Ala340Thr) SNV Uncertain significance 1029373 GRCh37: 11:134074865-134074865
GRCh38: 11:134204970-134204970
10 NCAPD3 NM_015261.3(NCAPD3):c.2135C>T (p.Thr712Met) SNV Uncertain significance 1029374 GRCh37: 11:134055332-134055332
GRCh38: 11:134185437-134185437
11 NCAPD3 NM_015261.3(NCAPD3):c.2257A>G (p.Asn753Asp) SNV Uncertain significance 1029375 GRCh37: 11:134054876-134054876
GRCh38: 11:134184981-134184981
12 NCAPD3 NM_015261.3(NCAPD3):c.2707G>A (p.Ala903Thr) SNV Uncertain significance 1029376 GRCh37: 11:134048604-134048604
GRCh38: 11:134178709-134178709

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 22, Primary, Autosomal Recessive:

72
# Symbol AA change Variation ID SNP ID
1 NCAPD3 p.Glu1153Ala VAR_080955 rs135019476

Expression for Microcephaly 22, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 22, Primary, Autosomal Recessive.

Pathways for Microcephaly 22, Primary, Autosomal Recessive

GO Terms for Microcephaly 22, Primary, Autosomal Recessive

Sources for Microcephaly 22, 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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