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 ⁵⁷ ⁷⁵ ⁷³

Primary Autosomal Recessive Microcephaly 11 ¹² ²⁹ ⁶ ¹⁵

Mcph11 ⁵⁷ ¹² 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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 615414

Disease Ontology ¹² DOID:0070287

MedGen ⁴² C3809431 CN180048

MeSH ⁴⁴ D008831

SNOMED-CT via HPO ⁶⁹ 258211005 271611007 237836003

UMLS ⁷³ C3809431

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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, 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	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	9.8	MCPH1 PHC1
2	microcephaly 18, primary, autosomal dominant	9.7	MCPH1 PHC1
3	primary microcephaly	9.6	MCPH1 PHC1

Sources

Symptoms & Phenotypes for Microcephaly 11, Primary, Autosomal Recessive

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

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

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

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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 ²⁹	PHC1

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Anatomical Context for Microcephaly 11, Primary, Autosomal Recessive

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

⁴¹

Brain, Cortex

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Publications for Microcephaly 11, Primary, Autosomal Recessive

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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	1377.35	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ 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	13.22	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:

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

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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 ⁶⁶ Show member pathways Processing and activation of SUMO ⁶⁶ SUMO E3 ligases SUMOylate target proteins ⁶⁶ SUMO is conjugated to E1 (UBA2-SAE1) ⁶⁶ SUMO is proteolytically processed ⁶⁶ SUMO is transferred from E1 to E2 (UBE2I, UBC9) ⁶⁶ SUMOylation of chromatin organization proteins ⁶⁶ SUMOylation of DNA damage response and repair proteins ⁶⁶ SUMOylation of transcription factors ⁶⁶	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

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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

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