MCID: MCR246
MIFTS: 19

Microcephaly 12, Primary, Autosomal Recessive

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

Aliases & Classifications for Microcephaly 12, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 12, Primary, Autosomal Recessive:

Name: Microcephaly 12, Primary, Autosomal Recessive 57 75 73
Primary Autosomal Recessive Microcephaly 12 29 6
Mcph12 57 75
Microcephaly, Type 12, Primary, Autosomal Recessive 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
one consanguineous pakistani family has been reported (last curated november 2014)


HPO:

32
microcephaly 12, primary, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616080
MeSH 44 D008831
SNOMED-CT via HPO 69 258211005 271611007 86765009
UMLS 73 C4015156

Summaries for Microcephaly 12, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Microcephaly 12, primary, autosomal recessive: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.

MalaCards based summary : Microcephaly 12, Primary, Autosomal Recessive, is also known as primary autosomal recessive microcephaly 12. An important gene associated with Microcephaly 12, Primary, Autosomal Recessive is CDK6 (Cyclin Dependent Kinase 6). Affiliated tissues include brain and cortex, and related phenotypes are microcephaly and intellectual disability, mild

Description from OMIM: 616080

Symptoms & Phenotypes for Microcephaly 12, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly, primary (-4 to -6 sd)

Neurologic Central Nervous System:
intellectual disability, mild
simplified gyral pattern

Head And Neck Face:
sloping forehead


Clinical features from OMIM:

616080

Human phenotypes related to Microcephaly 12, Primary, Autosomal Recessive:

32
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 intellectual disability, mild 32 HP:0001256
3 sloping forehead 32 HP:0000340
4 cortical gyral simplification 32 HP:0009879

Drugs & Therapeutics for Microcephaly 12, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 12, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 12, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 12, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 12 29 CDK6

Anatomical Context for Microcephaly 12, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 12, Primary, Autosomal Recessive:

41
Brain, Cortex

Publications for Microcephaly 12, Primary, Autosomal Recessive

Variations for Microcephaly 12, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 12, Primary, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 CDK6 p.Ala197Thr VAR_072638 rs606231255

ClinVar genetic disease variations for Microcephaly 12, Primary, Autosomal Recessive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CDK6 NM_001145306.1(CDK6): c.589G> A (p.Ala197Thr) single nucleotide variant Pathogenic rs606231255 GRCh38 Chromosome 7, 92671484: 92671484
2 CDK6 NM_001145306.1(CDK6): c.589G> A (p.Ala197Thr) single nucleotide variant Pathogenic rs606231255 GRCh37 Chromosome 7, 92300798: 92300798

Expression for Microcephaly 12, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 12, Primary, Autosomal Recessive.

Pathways for Microcephaly 12, Primary, Autosomal Recessive

GO Terms for Microcephaly 12, Primary, Autosomal Recessive

Sources for Microcephaly 12, 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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