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 ⁷³ ⁷¹

Primary Autosomal Recessive Microcephaly 11 ¹² ²⁹ ⁶ ¹⁵

Mcph11 ⁵⁷ ¹² ⁷³

Microcephaly, Type 11, Primary, Autosomal Recessive ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0070287

OMIM® ⁵⁷ 615414

OMIM Phenotypic Series ⁵⁷ PS251200

MeSH ⁴⁴ D008831

MedGen ⁴¹ C3809431 CN180048

SNOMED-CT via HPO ⁶⁸ 237836003 258211005 271611007

UMLS ⁷¹ C3809431

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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 seckel syndrome 2 and seckel syndrome 5. An important gene associated with Microcephaly 11, Primary, Autosomal Recessive is PHC1 (Polyhomeotic Homolog 1). Affiliated tissues include cortex and brain, 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

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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 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
Microcephaly 26, Primary, Autosomal Dominant	Microcephaly 27, Primary, Autosomal Dominant
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 32)

#	Related Disease	Score	Top Affiliating Genes
1	seckel syndrome 2	9.9	MCPH1 CENPJ
2	seckel syndrome 5	9.9	MCPH1 CENPJ
3	seckel syndrome 4	9.9	MCPH1 CENPJ
4	microcephaly 1, primary, autosomal recessive	9.8	MCPH1 CENPJ
5	microcephaly 18, primary, autosomal dominant	9.7	ZNF335 MCPH1 CENPJ
6	mirror movements 1	9.7	KNL1 CENPJ
7	microcephalic osteodysplastic primordial dwarfism, type ii	9.6	MCPH1 CEP135 CENPJ
8	microcephaly 13, primary, autosomal recessive	9.6	ZNF335 WDR62 MCPH1
9	miller-dieker lissencephaly syndrome	9.5	WDR62 MCPH1
10	microcephaly 14, primary, autosomal recessive	9.5	ZNF335 WDR62 CENPJ
11	band heterotopia	9.5	WDR62 MCPH1 CENPJ
12	periventricular nodular heterotopia	9.5	WDR62 MCPH1 CENPJ
13	isolated growth hormone deficiency	9.5	WDR62 CEP135 CENPJ
14	walker-warburg syndrome	9.4	WDR62 MCPH1 CENPJ
15	microcephaly 17, primary, autosomal recessive	9.3	ZNF335 WDR62 MCPH1 CENPJ
16	isolated growth hormone deficiency, type ia	9.2	WDR62 MCPH1 CEP135 CENPJ
17	physical disorder	9.0	WDR62 PAGR1 MCPH1 CEP135 CENPJ
18	microcephaly 10, primary, autosomal recessive	8.9	ZNF335 WDR62 PHC1 MIR4528 CEP135 CENPJ
19	microcephaly 12, primary, autosomal recessive	8.8	WDR62 PHC1 MCPH1 KNL1 CEP135 CENPJ
20	microcephaly 9, primary, autosomal recessive	8.8	WDR62 MIR4528 MCPH1 KNL1 CEP135 CENPJ
21	primary microcephaly	8.8	WDR62 PHC1 MCPH1 KNL1 CEP135 CENPJ
22	microcephaly 8, primary, autosomal recessive	8.8	WDR62 MIR4528 MCPH1 KNL1 CEP135 CENPJ
23	microcephaly 7, primary, autosomal recessive	8.8	WDR62 MIR4528 MCPH1 KNL1 CEP135 CENPJ
24	seckel syndrome	8.8	WDR62 PHC1 MCPH1 KNL1 CEP135 CENPJ
25	microcephaly 6, primary, autosomal recessive	8.8	WDR62 MIR4528 MCPH1 KNL1 CEP135 CENPJ
26	microcephaly 3, primary, autosomal recessive	8.8	WDR62 MIR4528 MCPH1 KNL1 CEP135 CENPJ
27	microcephaly	8.6	ZNF335 WDR62 PHC1 MCPH1 KNL1 CEP135
28	microcephaly 5, primary, autosomal recessive	8.6	ZNF335 WDR62 PHC1 MCPH1 KNL1 CEP135
29	microcephaly 2, primary, autosomal recessive, with or without cortical malformations	8.6	ZNF335 WDR62 PHC1 MCPH1 KNL1 CEP135
30	congenital nervous system abnormality	8.5	ZNF335 WDR62 PAGR1 MCPH1 KNL1 CEP135
31	microcephaly 4, primary, autosomal recessive	8.3	ZNF335 WDR62 PHC1 MIR4528 MCPH1 KNL1
32	primary autosomal recessive microcephaly	8.2	ZNF335 WDR62 PHC1 PAGR1 MIR4528 MCPH1

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

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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	microcephaly ³¹		HP:0000252
2	short stature ³¹		HP:0004322

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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 (Updated 05-Mar-2021)

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

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	9.5	CENPJ CEP135 KNL1 MCPH1 PAGR1 PHC1
2	vision/eye	MP:0005391	9.1	CENPJ CEP135 KNL1 MCPH1 PHC1 WDR62

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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:

⁴⁰

Cortex, Brain

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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. ⁵⁷ ⁶	Awad S...Poizat C	23418308	2013
2	Mcph1/Brit1 deficiency promotes genomic instability and tumor formation in a mouse model. ⁶¹	Liang Y...Li K	25362854	2015
3	Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶¹	Verloes A...Passemard S	20301772	2009

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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	PubMed IDs
1	PHC1	Polyhomeotic Homolog 1	Protein Coding	1374.16	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	23418308
2	PAGR1	PAXIP1 Associated Glutamate Rich Protein 1	Protein Coding	10.49	DISEASES inferred ¹⁵ ¹⁵
3	MIR4528	MicroRNA 4528	RNA Gene	7.34	DISEASES inferred ¹⁵
4	MCPH1	Microcephalin 1	Protein Coding	7.22	DISEASES inferred ¹⁵
5	ZNF335	Zinc Finger Protein 335	Protein Coding	7.09	DISEASES inferred ¹⁵
6	CEP135	Centrosomal Protein 135	Protein Coding	6.96	DISEASES inferred ¹⁵
7	CENPJ	Centromere Protein J	Protein Coding	6.63	DISEASES inferred ¹⁵
8	WDR62	WD Repeat Domain 62	Protein Coding	6.6	DISEASES inferred ¹⁵
9	KNL1	Kinetochore Scaffold 1	Protein Coding	6.58	DISEASES inferred ¹⁵

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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	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

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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

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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	microtubule organizing center	GO:0005815	9.33	WDR62 MCPH1 CENPJ
2	histone methyltransferase complex	GO:0035097	8.96	ZNF335 PAGR1
3	centriole	GO:0005814	8.8	WDR62 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	ciliary basal body-plasma membrane docking	GO:0097711	9.32	CEP135 CENPJ
2	regulation of G2/M transition of mitotic cell cycle	GO:0010389	9.26	CEP135 CENPJ
3	cerebral cortex development	GO:0021987	9.16	WDR62 MCPH1
4	positive regulation of establishment of protein localization	GO:1904951	8.96	CEP135 CENPJ
5	centriole replication	GO:0007099	8.8	WDR62 CEP135 CENPJ

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Sources for Microcephaly 11, Primary, Autosomal Recessive

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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³⁵ IUPHAR

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³⁷ LifeMap

³⁸ LncRNADisease

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⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁴ MeSH

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⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

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⁶⁵ Reactome

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

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

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

Expression 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:

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

Sources for Microcephaly 11, Primary, Autosomal Recessive