Microcephaly 11, Primary, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Microcephaly 11, Primary, Autosomal Recessive

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

Name: Microcephaly 11, Primary, Autosomal Recessive ⁵⁸ ⁷⁶ ⁷⁴

Primary Autosomal Recessive Microcephaly 11 ¹² ³⁰ ⁶ ¹⁵

Mcph11 ⁵⁸ ¹² ⁷⁶

Microcephaly, Type 11, Primary, Autosomal Recessive ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

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

HPO:

³³

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

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0070287

OMIM ⁵⁸ 615414

MeSH ⁴⁵ D008831

MedGen ⁴³ C3809431 CN180048

SNOMED-CT via HPO ⁷⁰ 237836003 258211005 271611007

UMLS ⁷⁴ C3809431

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Summaries for Microcephaly 11, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : ⁷⁶ 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.

Description from OMIM: 615414

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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	9.6	MCPH1 PHC1
2	microcephaly 18, primary, autosomal dominant	9.6	MCPH1 PHC1
3	primary microcephaly	9.4	MCPH1 PHC1

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Symptoms & Phenotypes for Microcephaly 11, Primary, Autosomal Recessive

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

³³

#	Description	HPO Frequency	HPO Source Accession
1	microcephaly ³³		HP:0000252
2	short stature ³³		HP:0004322

Symptoms via clinical synopsis from OMIM:

⁵⁸

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:

²⁷

#	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:

⁴⁷

#	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

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Drugs & Therapeutics for Microcephaly 11, Primary, Autosomal Recessive

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

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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 ³⁰	PHC1

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Anatomical Context for Microcephaly 11, Primary, Autosomal Recessive

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

⁴²

Brain, Cortex

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Publications for Microcephaly 11, Primary, Autosomal Recessive

Articles related to Microcephaly 11, Primary, Autosomal Recessive:

#	Title	Authors	Year
1	Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis. ( 23418308 )	Awad S...Poizat C	2013

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Genes for Microcephaly 11, Primary, Autosomal Recessive

Genes related to Microcephaly 11, Primary, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PHC1	Polyhomeotic Homolog 1	Protein Coding	1377.34	Molecular basis known ⁵⁸ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ Unconfirmed association ⁵⁸ GeneCards inferred via : Disorders Variants (show sections)	23418308
2	MCPH1	Microcephalin 1	Protein Coding	16.65	DISEASES inferred ¹⁵
3	TP53	Tumor Protein P53	Protein Coding	13.36	DISEASES inferred ¹⁵

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Variations for Microcephaly 11, Primary, Autosomal Recessive

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

⁷⁶

#	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
3	PHC1	NM_004426.2(PHC1): c.2626C> T (p.Arg876Trp)	single nucleotide variant	Uncertain significance	rs372044180	GRCh37	Chromosome 12, 9089920: 9089920
4	PHC1	NM_004426.2(PHC1): c.2626C> T (p.Arg876Trp)	single nucleotide variant	Uncertain significance	rs372044180	GRCh38	Chromosome 12, 8937324: 8937324

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Expression for Microcephaly 11, Primary, Autosomal Recessive

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

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Pathways for Microcephaly 11, Primary, Autosomal Recessive

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

#	Super pathways	Score	Top Affiliating Genes
1	SUMOylation ⁶⁷ Show member pathways Processing and activation of SUMO ⁶⁷ SUMO E3 ligases SUMOylate target proteins ⁶⁷ SUMO is conjugated to E1 (UBA2-SAE1) ⁶⁷ SUMO is proteolytically processed ⁶⁷ SUMO is transferred from E1 to E2 (UBE2I, UBC9) ⁶⁷ SUMOylation of chromatin organization proteins ⁶⁷ SUMOylation of DNA damage response and repair proteins ⁶⁷ SUMOylation of transcription factors ⁶⁷	11.49	PHC1 TP53
2	DNA Damage ⁴	11.09	MCPH1 TP53

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GO Terms for Microcephaly 11, Primary, Autosomal Recessive

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Sources for Microcephaly 11, Primary, Autosomal Recessive

¹ BioSystems

² BitterDB

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⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁸ Cochrane Library

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²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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²⁸ GEO DataSets

²⁹ GO

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³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

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⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

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⁴⁹ NCBI Bookshelf

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⁵¹ NCIt

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⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

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⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Microcephaly 11, Primary, Autosomal Recessive (MCPH11)

Aliases & Classifications for Microcephaly 11, Primary, Autosomal Recessive

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

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Microcephaly 11, Primary, Autosomal Recessive

Related Diseases for Microcephaly 11, Primary, Autosomal Recessive

Diseases in the Microcephaly family:

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

Symptoms & Phenotypes for Microcephaly 11, Primary, Autosomal Recessive

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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

Drugs & Therapeutics for Microcephaly 11, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 11, Primary, Autosomal Recessive

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

Anatomical Context for Microcephaly 11, Primary, Autosomal Recessive

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

Publications for Microcephaly 11, Primary, Autosomal Recessive

Articles related to Microcephaly 11, Primary, Autosomal Recessive:

Genes for Microcephaly 11, Primary, Autosomal Recessive

Genes related to Microcephaly 11, Primary, Autosomal Recessive (1 elite genes):

Variations for Microcephaly 11, Primary, Autosomal Recessive

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

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

Expression for Microcephaly 11, Primary, Autosomal Recessive

Pathways for Microcephaly 11, Primary, Autosomal Recessive

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

GO Terms for Microcephaly 11, Primary, Autosomal Recessive

Sources for Microcephaly 11, Primary, Autosomal Recessive