MCID: MCR249
MIFTS: 18

Microcephaly 11, Primary, Autosomal Recessive

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

Aliases & Classifications for Microcephaly 11, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 11, Primary, Autosomal Recessive:

Name: Microcephaly 11, Primary, Autosomal Recessive 57 75 73
Primary Autosomal Recessive Microcephaly 11 29 6
Mcph11 57 75
Microcephaly, Type 11, Primary, Autosomal Recessive 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
one family has been reported (last curated september 2013)


HPO:

32
microcephaly 11, primary, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615414
MeSH 44 D008831
SNOMED-CT via HPO 69 258211005 271611007 237836003
UMLS 73 C3809431

Summaries for Microcephaly 11, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Microcephaly 11, 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 11, Primary, Autosomal Recessive, is also known as primary autosomal recessive microcephaly 11. An important gene associated with Microcephaly 11, Primary, Autosomal Recessive is PHC1 (Polyhomeotic Homolog 1). Affiliated tissues include brain and cortex, and related phenotypes are microcephaly and short stature

Description from OMIM: 615414

Symptoms & Phenotypes for Microcephaly 11, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Neurologic Central Nervous System:
low-normal intelligence
normal brain mri

Head And Neck Head:
microcephaly (-4 to -5 sd)


Clinical features from OMIM:

615414

Human phenotypes related to Microcephaly 11, Primary, Autosomal Recessive:

32
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 short stature 32 HP:0004322

Drugs & Therapeutics for Microcephaly 11, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 11, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 11, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 11, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 11 29 PHC1

Anatomical Context for Microcephaly 11, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 11, Primary, Autosomal Recessive:

41
Brain, Cortex

Publications for Microcephaly 11, Primary, Autosomal Recessive

Variations for Microcephaly 11, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 11, Primary, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 PHC1 p.Leu992Phe VAR_070566 rs587777036

ClinVar genetic disease variations for Microcephaly 11, Primary, Autosomal Recessive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PHC1 NM_004426.2(PHC1): c.2974C> T (p.Leu992Phe) single nucleotide variant Pathogenic/Likely pathogenic rs587777036 GRCh37 Chromosome 12, 9092014: 9092014
2 PHC1 NM_004426.2(PHC1): c.2974C> T (p.Leu992Phe) single nucleotide variant Pathogenic/Likely pathogenic rs587777036 GRCh38 Chromosome 12, 8939418: 8939418

Expression for Microcephaly 11, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 11, Primary, Autosomal Recessive.

Pathways for Microcephaly 11, Primary, Autosomal Recessive

GO Terms for Microcephaly 11, Primary, Autosomal Recessive

Sources for Microcephaly 11, 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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