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 ²⁹ ⁶

Mcph11 ⁵⁷ 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 Rare diseases Fetal diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 615414

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, is also known as primary autosomal recessive microcephaly 11. An important gene associated with Microcephaly 11, Primary, Autosomal Recessive is PHC1 (Polyhomeotic Homolog 1). Affiliated tissues include brain and cortex, and related phenotypes are microcephaly and short stature

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	Autosomal Recessive Primary Microcephaly

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Symptoms & Phenotypes for Microcephaly 11, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

⁵⁷

Growth Height:
short stature

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

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

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

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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	1002.52	Molecular basis known ⁵⁷ Causative variation ⁷⁵ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	23418308

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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

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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

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⁶⁸ SNOMED-CT

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⁷¹ TGDB

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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia