Microcephaly 14, Primary, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Microcephaly 14, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 14, Primary, Autosomal Recessive:

Name: Microcephaly 14, Primary, Autosomal Recessive ⁵⁷ ⁷⁵

Primary Autosomal Recessive Microcephaly 14 ¹² ²⁹ ⁶

Mcph14 ⁵⁷ ¹² ⁷⁵

Microcephaly, Type 14, Primary, Autosomal Recessive ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
one consanguineous pakistani family has been reported (last curated june 2015)

HPO:

³²

microcephaly 14, 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 616402

Disease Ontology ¹² DOID:0070279

MedGen ⁴² C4225338 CN231127

MeSH ⁴⁴ D008831

SNOMED-CT via HPO ⁶⁹ 258211005 271611007 248004009 more

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Summaries for Microcephaly 14, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : ⁷⁵ Microcephaly 14, primary, autosomal recessive: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.

MalaCards based summary : Microcephaly 14, Primary, Autosomal Recessive, is also known as primary autosomal recessive microcephaly 14. An important gene associated with Microcephaly 14, Primary, Autosomal Recessive is SASS6 (SAS-6 Centriolar Assembly Protein). Affiliated tissues include brain and cortex, and related phenotypes are intellectual disability and seizures

Disease Ontology : ¹² A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21.

Description from OMIM: 616402

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Related Diseases for Microcephaly 14, 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

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Symptoms & Phenotypes for Microcephaly 14, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior

Head And Neck Head:
microcephaly, primary (up to -19.6 sd)

Neurologic Central Nervous System:
poor speech
mental retardation
seizures (in some patients)
delayed psychomotor development, severe
cerebellar hypoplasia (1 patient)

Clinical features from OMIM:

616402

Human phenotypes related to Microcephaly 14, Primary, Autosomal Recessive:

³² (show all 7)

#	Description	HPO Frequency	HPO Source Accession
1	intellectual disability ³²		HP:0001249
2	seizures ³²	occasional (7.5%)	HP:0001250
3	global developmental delay ³²		HP:0001263
4	microcephaly ³²		HP:0000252
5	cerebellar hypoplasia ³²	occasional (7.5%)	HP:0001321
6	aggressive behavior ³²		HP:0000718
7	poor speech ³²		HP:0002465

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Drugs & Therapeutics for Microcephaly 14, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 14, Primary, Autosomal Recessive

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Genetic Tests for Microcephaly 14, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 14, Primary, Autosomal Recessive:

#	Genetic test	Affiliating Genes
1	Primary Autosomal Recessive Microcephaly 14 ²⁹	SASS6

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Anatomical Context for Microcephaly 14, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 14, Primary, Autosomal Recessive:

⁴¹

Brain, Cortex

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Publications for Microcephaly 14, Primary, Autosomal Recessive

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Genes for Microcephaly 14, Primary, Autosomal Recessive

Genes related to Microcephaly 14, Primary, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SASS6	SAS-6 Centriolar Assembly Protein	Protein Coding	1377.37	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	24951542

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Variations for Microcephaly 14, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 14, Primary, Autosomal Recessive:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	SASS6	p.Ile62Thr	VAR_073833	rs876661307

ClinVar genetic disease variations for Microcephaly 14, Primary, Autosomal Recessive:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SASS6	NM_194292.2(SASS6): c.185T> C (p.Ile62Thr)	single nucleotide variant	Pathogenic	rs876661307	GRCh37	Chromosome 1, 100588787: 100588787
2	SASS6	NM_194292.2(SASS6): c.185T> C (p.Ile62Thr)	single nucleotide variant	Pathogenic	rs876661307	GRCh38	Chromosome 1, 100123231: 100123231

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Expression for Microcephaly 14, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 14, Primary, Autosomal Recessive.

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Pathways for Microcephaly 14, Primary, Autosomal Recessive

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GO Terms for Microcephaly 14, Primary, Autosomal Recessive

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Sources for Microcephaly 14, Primary, Autosomal Recessive

¹ BioSystems

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⁵ ClinicalTrials

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²⁰ GeneAnalytics

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²⁴ GeneReviews

²⁵ Genetics Home Reference

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²⁷ GEO DataSets

²⁸ GO

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³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

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³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

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⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

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⁴⁸ NCBI Bookshelf

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⁵² NIH Clinical Center

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⁵⁷ OMIM

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⁵⁹ Orphanet

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⁶¹ PharmGKB

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⁶⁶ Reactome

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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 14, Primary, Autosomal Recessive (MCPH14)

Aliases & Classifications for Microcephaly 14, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 14, Primary, Autosomal Recessive:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Microcephaly 14, Primary, Autosomal Recessive

Related Diseases for Microcephaly 14, Primary, Autosomal Recessive

Diseases in the Microcephaly family:

Symptoms & Phenotypes for Microcephaly 14, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Microcephaly 14, Primary, Autosomal Recessive:

Drugs & Therapeutics for Microcephaly 14, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 14, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 14, Primary, Autosomal Recessive:

Anatomical Context for Microcephaly 14, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 14, Primary, Autosomal Recessive:

Publications for Microcephaly 14, Primary, Autosomal Recessive

Genes for Microcephaly 14, Primary, Autosomal Recessive

Genes related to Microcephaly 14, Primary, Autosomal Recessive (1 elite genes):

Variations for Microcephaly 14, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 14, Primary, Autosomal Recessive:

ClinVar genetic disease variations for Microcephaly 14, Primary, Autosomal Recessive:

Expression for Microcephaly 14, Primary, Autosomal Recessive

Pathways for Microcephaly 14, Primary, Autosomal Recessive

GO Terms for Microcephaly 14, Primary, Autosomal Recessive

Sources for Microcephaly 14, Primary, Autosomal Recessive