MCPH11
MCID: MCR249
MIFTS: 35

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 56 73 71
Primary Autosomal Recessive Microcephaly 11 12 29 6 15
Mcph11 56 12 73
Microcephaly, Type 11, Primary, Autosomal Recessive 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
microcephaly 11, primary, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070287
OMIM 56 615414
OMIM Phenotypic Series 56 PS251200
MeSH 43 D008831
SNOMED-CT via HPO 68 237836003 258211005 271611007
UMLS 71 C3809431

Summaries for Microcephaly 11, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 73 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 13, primary, autosomal recessive and lissencephaly 2. An important gene associated with Microcephaly 11, Primary, Autosomal Recessive is PHC1 (Polyhomeotic Homolog 1), and among its related pathways/superpathways are Cell Cycle, Mitotic and Regulation of PLK1 Activity at G2/M Transition. Affiliated tissues include brain, cortex and eye, and related phenotypes are short stature and microcephaly

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:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 microcephaly 13, primary, autosomal recessive 9.9 ZNF335 WDR62
2 lissencephaly 2 9.6 WDR62 CEP152
3 band heterotopia 9.6 WDR62 MCPH1
4 seckel syndrome 1 9.3 CEP152 CENPJ
5 seckel syndrome 5 9.3 MCPH1 CEP152 CENPJ
6 seckel syndrome 4 9.3 MCPH1 CEP152 CENPJ
7 microcephaly 1, primary, autosomal recessive 9.2 MCPH1 CEP152 CENPJ
8 seckel syndrome 2 9.2 CEP152 CENPJ CDK5RAP2
9 microcephaly 18, primary, autosomal dominant 8.9 ZNF335 CEP152 CEP135 CENPJ
10 periventricular nodular heterotopia 8.9 WDR62 MCPH1 CENPJ CDK5RAP2
11 autosomal recessive non-syndromic intellectual disability 8.8 WDR62 MCPH1 CEP152 CEP135 CDK5RAP2
12 microcephaly 10, primary, autosomal recessive 8.8 ZNF335 WDR62 PHC1 MIR4528 CEP152 CEP135
13 joubert syndrome 1 8.8 MCPH1 CEP152 CENPJ CDK5RAP2
14 microcephaly 8, primary, autosomal recessive 8.6 WDR62 MIR4528 MCPH1 CEP152 CEP135 CDK5RAP2
15 microcephalic osteodysplastic primordial dwarfism, type ii 8.6 MCPH1 CEP152 CEP135 CENPJ CDK5RAP2
16 microcephaly 17, primary, autosomal recessive 8.6 WDR62 MCPH1 CEP152 CENPJ CDK5RAP2
17 meier-gorlin syndrome 1 8.5 ZNF335 WDR62 CEP152 CEP135 CENPJ
18 microcephaly 9, primary, autosomal recessive 8.4 ZNF335 WDR62 MIR4528 CEP152 CEP135 CENPJ
19 microcephaly 12, primary, autosomal recessive 8.1 ZNF335 WDR62 MIR4528 MCPH1 CEP152 CEP135
20 microcephaly 7, primary, autosomal recessive 8.0 WDR62 MIR4528 MCPH1 CEP152 CEP135 CENPJ
21 microcephaly 6, primary, autosomal recessive 8.0 WDR62 MIR4528 MCPH1 CEP152 CEP135 CENPJ
22 microcephaly 3, primary, autosomal recessive 8.0 WDR62 MIR4528 MCPH1 CEP152 CEP135 CENPJ
23 seckel syndrome 8.0 WDR62 PHC1 MCPH1 CEP152 CEP135 CENPJ
24 physical disorder 8.0 WDR62 PAGR1 MCPH1 CEP152 CEP135 CENPJ
25 isolated growth hormone deficiency, type ia 7.9 ZNF335 WDR62 MCPH1 CEP152 CEP135 CENPJ
26 microcephaly 7.7 ZNF335 WDR62 PHC1 MCPH1 CEP152 CEP135
27 microcephaly 15, primary, autosomal recessive 7.7 ZNF335 WDR62 PHC1 MCPH1 CEP152 CEP135
28 congenital nervous system abnormality 7.7 ZNF335 WDR62 PAGR1 MCPH1 CEP152 CEP135
29 microcephaly 4, primary, autosomal recessive 7.7 ZNF335 WDR62 MIR4528 MCPH1 CEP152 CEP135
30 primary microcephaly 7.5 ZNF335 WDR62 PHC1 PAGR1 MCPH1 CEP152
31 microcephaly 5, primary, autosomal recessive 7.4 ZNF335 WDR62 PHC1 MIR4528 MCPH1 CEP152
32 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 7.4 ZNF335 WDR62 PHC1 MIR4528 MCPH1 CEP152
33 primary autosomal recessive microcephaly 7.2 ZNF335 WDR62 PHC1 PAGR1 MIR4528 MCPH1

Graphical network of the top 20 diseases related to Microcephaly 11, Primary, Autosomal Recessive:



Diseases related to Microcephaly 11, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 11, Primary, Autosomal Recessive

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

31
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 microcephaly 31 HP:0000252

Symptoms via clinical synopsis from OMIM:

56
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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.7 CDK5RAP2 CENPJ CEP135 MCPH1 PAGR1 PHC1
2 nervous system MP:0003631 9.5 CDK5RAP2 CENPJ CEP152 MCPH1 PAGR1 WDR62
3 vision/eye MP:0005391 9.1 CDK5RAP2 CENPJ CEP135 MCPH1 PHC1 WDR62

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:

40
Brain, Cortex, Eye

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. 56 6
23418308 2013
2
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders 61 6
20301772 2009
3
Mcph1/Brit1 deficiency promotes genomic instability and tumor formation in a mouse model. 61
25362854 2015

Variations for Microcephaly 11, Primary, Autosomal Recessive

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

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PHC1 NM_004426.3(PHC1):c.2974C>T (p.Leu992Phe)SNV Pathogenic/Likely pathogenic 65406 rs587777036 12:9092014-9092014 12:8939418-8939418
2 PHC1 NM_004426.3(PHC1):c.2626C>T (p.Arg876Trp)SNV Uncertain significance 211897 rs372044180 12:9089920-9089920 12:8937324-8937324

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

73
# 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

Cellular components related to Microcephaly 11, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.73 WDR62 MCPH1 CEP152 CEP135 CENPJ CDK5RAP2
2 centrosome GO:0005813 9.55 WDR62 CEP152 CEP135 CENPJ CDK5RAP2
3 histone methyltransferase complex GO:0035097 9.37 ZNF335 PAGR1
4 microtubule organizing center GO:0005815 9.35 WDR62 MCPH1 CEP152 CENPJ CDK5RAP2
5 pericentriolar material GO:0000242 9.32 CEP152 CDK5RAP2
6 centriole GO:0005814 8.92 WDR62 CEP152 CEP135 CENPJ

Biological processes related to Microcephaly 11, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.56 CEP152 CEP135 CENPJ CDK5RAP2
2 cerebral cortex development GO:0021987 9.48 WDR62 MCPH1
3 neurogenesis GO:0022008 9.46 WDR62 CDK5RAP2
4 ciliary basal body-plasma membrane docking GO:0097711 9.46 CEP152 CEP135 CENPJ CDK5RAP2
5 establishment of mitotic spindle orientation GO:0000132 9.43 MCPH1 CDK5RAP2
6 centrosome duplication GO:0051298 9.4 CEP152 CENPJ
7 positive regulation of non-motile cilium assembly GO:1902857 9.37 CEP135 CENPJ
8 positive regulation of establishment of protein localization GO:1904951 9.32 CEP135 CENPJ
9 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.26 CEP152 CEP135 CENPJ CDK5RAP2
10 centriole replication GO:0007099 9.02 WDR62 CEP152 CEP135 CENPJ CDK5RAP2

Molecular functions related to Microcephaly 11, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tubulin binding GO:0015631 8.62 CENPJ CDK5RAP2

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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