MCID: MCR362
MIFTS: 12

Microcephaly 22, Primary, Autosomal Recessive

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Mental 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 6
Mcph22 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 617984

Summaries for Microcephaly 22, Primary, Autosomal Recessive

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).

Description from OMIM: 617984

Symptoms & Phenotypes for Microcephaly 22, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature (patient a)

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

Neurologic Peripheral Nervous System:
limb hypertonia (patient b)

Growth Other:
poor overall growth

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

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

Anatomical Context for Microcephaly 22, Primary, Autosomal Recessive

Publications for Microcephaly 22, Primary, Autosomal Recessive

Variations for Microcephaly 22, Primary, Autosomal Recessive

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NCAPD3 NM_015261.2(NCAPD3): c.1783delG (p.Val595Serfs) deletion Pathogenic GRCh38 Chromosome 11, 134194057: 134194057
2 NCAPD3 NM_015261.2(NCAPD3): c.1783delG (p.Val595Serfs) deletion Pathogenic GRCh37 Chromosome 11, 134063952: 134063952
3 NCAPD3 NM_015261.2(NCAPD3): c.382+14A> G single nucleotide variant Pathogenic GRCh37 Chromosome 11, 134086816: 134086816
4 NCAPD3 NM_015261.2(NCAPD3): c.382+14A> G single nucleotide variant Pathogenic GRCh38 Chromosome 11, 134216922: 134216922
5 NCAPD3 NM_015261.2(NCAPD3): c.3458A> C (p.Glu1153Ala) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 134168111: 134168111
6 NCAPD3 NM_015261.2(NCAPD3): c.3458A> C (p.Glu1153Ala) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 134038006: 134038006

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 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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