MCID: MCR322
MIFTS: 15

Microcephaly 18, Primary, Autosomal Dominant

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

Aliases & Classifications for Microcephaly 18, Primary, Autosomal Dominant

MalaCards integrated aliases for Microcephaly 18, Primary, Autosomal Dominant:

Name: Microcephaly 18, Primary, Autosomal Dominant 57 75 29 6
Mcph18 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
one family has been reported (last curated june 2017)


Classifications:



External Ids:

OMIM 57 617520
MeSH 44 D008831

Summaries for Microcephaly 18, Primary, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 Microcephaly 18, primary, autosomal dominant: 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. MCPH18 affected individuals manifest microcephaly with mild to moderate intellectual disability.

MalaCards based summary : Microcephaly 18, Primary, Autosomal Dominant, is also known as mcph18. An important gene associated with Microcephaly 18, Primary, Autosomal Dominant is WDFY3 (WD Repeat And FYVE Domain Containing 3). Affiliated tissues include brain and cortex.

Description from OMIM: 617520

Symptoms & Phenotypes for Microcephaly 18, Primary, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly (<3 sd below mean per age)

Neurologic Central Nervous System:
intellectual disability, mild to moderate
no structural brain abnormalities


Clinical features from OMIM:

617520

Drugs & Therapeutics for Microcephaly 18, Primary, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Microcephaly 18, Primary, Autosomal Dominant

Genetic Tests for Microcephaly 18, Primary, Autosomal Dominant

Genetic tests related to Microcephaly 18, Primary, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Microcephaly 18, Primary, Autosomal Dominant 29 WDFY3

Anatomical Context for Microcephaly 18, Primary, Autosomal Dominant

MalaCards organs/tissues related to Microcephaly 18, Primary, Autosomal Dominant:

41
Brain, Cortex

Publications for Microcephaly 18, Primary, Autosomal Dominant

Variations for Microcephaly 18, Primary, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 18, Primary, Autosomal Dominant:

75
# Symbol AA change Variation ID SNP ID
1 WDFY3 p.Arg2637Trp VAR_079130

ClinVar genetic disease variations for Microcephaly 18, Primary, Autosomal Dominant:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WDFY3 NM_014991.4(WDFY3): c.7909C> T (p.Arg2637Trp) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 84715350: 84715350
2 WDFY3 NM_014991.4(WDFY3): c.7909C> T (p.Arg2637Trp) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 85636503: 85636503

Expression for Microcephaly 18, Primary, Autosomal Dominant

Search GEO for disease gene expression data for Microcephaly 18, Primary, Autosomal Dominant.

Pathways for Microcephaly 18, Primary, Autosomal Dominant

GO Terms for Microcephaly 18, Primary, Autosomal Dominant

Sources for Microcephaly 18, Primary, Autosomal Dominant

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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