MCPH11
MCID: MCR249
MIFTS: 28

Microcephaly 11, Primary, Autosomal Recessive (MCPH11)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare 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 74 72
Primary Autosomal Recessive Microcephaly 11 12 29 6 15
Mcph11 57 12 74
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:

Disease Ontology 12 DOID:0070287
MeSH 44 D008831
UMLS 72 C3809431

Summaries for Microcephaly 11, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 74 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, also known as primary autosomal recessive microcephaly 11, is related to microcephaly 12, primary, autosomal recessive and microcephaly 18, primary, autosomal dominant. An important gene associated with Microcephaly 11, Primary, Autosomal Recessive is PHC1 (Polyhomeotic Homolog 1), and among its related pathways/superpathways are SUMOylation and DNA Damage. Affiliated tissues include brain and cortex, and related phenotypes are microcephaly and short stature

Disease Ontology : 12 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13.

More information from OMIM: 615414 PS251200

Related Diseases for Microcephaly 11, Primary, Autosomal Recessive

Diseases in the Microcephaly family:

Microcephaly, Autosomal Dominant Microcephaly 1, Primary, Autosomal Recessive
Microcephaly 4, Primary, Autosomal Recessive Microcephaly 3, Primary, Autosomal Recessive
Microcephaly 6, Primary, Autosomal Recessive Microcephaly 5, Primary, Autosomal Recessive
Microcephaly 7, Primary, Autosomal Recessive Microcephaly 8, Primary, Autosomal Recessive
Microcephaly 9, Primary, Autosomal Recessive Microcephaly 10, Primary, Autosomal Recessive
Microcephaly 11, Primary, Autosomal Recessive Microcephaly 13, Primary, Autosomal Recessive
Microcephaly 12, Primary, Autosomal Recessive Microcephaly 14, Primary, Autosomal Recessive
Microcephaly 15, Primary, Autosomal Recessive Microcephaly 16, Primary, Autosomal Recessive
Microcephaly 17, Primary, Autosomal Recessive Microcephaly 18, Primary, Autosomal Dominant
Microcephaly 19, Primary, Autosomal Recessive Microcephaly 20, Primary, Autosomal Recessive
Microcephaly 21, Primary, Autosomal Recessive Microcephaly 22, Primary, Autosomal Recessive
Microcephaly 23, Primary, Autosomal Recessive Microcephaly 24, Primary, Autosomal Recessive
Microcephaly 25, Primary, Autosomal Recessive Primary Autosomal Recessive Microcephaly
Primary Microcephaly

Diseases related to Microcephaly 11, Primary, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microcephaly 12, primary, autosomal recessive 9.4 PHC1 MCPH1
2 microcephaly 18, primary, autosomal dominant 9.3 PHC1 MCPH1
3 primary microcephaly 9.1 PHC1 MCPH1

Symptoms & Phenotypes for Microcephaly 11, Primary, Autosomal Recessive

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

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

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

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

Clinical features from OMIM:

615414

GenomeRNAi Phenotypes related to Microcephaly 11, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased CDKN1A mRNA expression GR00389-S-1 9.13 TP53
2 Decreased CDKN1A mRNA expression GR00389-S-2 9.13 PHC1 TP53
3 Increased BBC3 mRNA expression GR00389-S-4 8.62 PHC1 TP53

MGI Mouse Phenotypes related to Microcephaly 11, Primary, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.43 MCPH1 PHC1 TP53
2 hearing/vestibular/ear MP:0005377 9.33 MCPH1 PHC1 TP53
3 skeleton MP:0005390 9.13 MCPH1 PHC1 TP53
4 vision/eye MP:0005391 8.8 MCPH1 PHC1 TP53

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

Articles related to Microcephaly 11, Primary, Autosomal Recessive:

# Title Authors PMID Year
1
Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis. 8 71
23418308 2013
2
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders 38 71
20301772 2009
3
Mcph1/Brit1 deficiency promotes genomic instability and tumor formation in a mouse model. 38
25362854 2015

Variations for Microcephaly 11, Primary, Autosomal Recessive

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PHC1 NM_004426.3(PHC1): c.2974C> T (p.Leu992Phe) single nucleotide variant Pathogenic/Likely pathogenic rs587777036 12:9092014-9092014 12:8939418-8939418
2 PHC1 NM_004426.3(PHC1): c.2626C> T (p.Arg876Trp) single nucleotide variant Uncertain significance rs372044180 12:9089920-9089920 12:8937324-8937324

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

74
# Symbol AA change Variation ID SNP ID
1 PHC1 p.Leu992Phe VAR_070566 rs587777036

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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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46 MGI
49 NCI
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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