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 ⁵⁶ ⁷³

Primary Autosomal Recessive Microcephaly 14 ¹² ²⁹ ⁶ ¹⁵

Mcph14 ⁵⁶ ¹² ⁷³

Microcephaly, Type 14, Primary, Autosomal Recessive ³⁹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

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

HPO:

³¹

microcephaly 14, 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:0070279

OMIM ⁵⁶ 616402

OMIM Phenotypic Series ⁵⁶ PS251200

MeSH ⁴³ D008831

MedGen ⁴¹ C4225338 CN231127

SNOMED-CT via HPO ⁶⁸ 128613002 16026008 224958001 more

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Summaries for Microcephaly 14, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : ⁷³ 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, also known as primary autosomal recessive microcephaly 14, is related to phosphoglycerate dehydrogenase deficiency and seckel syndrome 5. 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 cerebellar hypoplasia and seizure

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.

More information from OMIM: 616402 PS251200

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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	Microcephaly 24, Primary, Autosomal Recessive
Microcephaly 25, Primary, Autosomal Recessive	Primary Autosomal Recessive Microcephaly
Primary Microcephaly

Diseases related to Microcephaly 14, Primary, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)

#	Related Disease	Score	Top Affiliating Genes
1	phosphoglycerate dehydrogenase deficiency	10.0	ZNF335 ANKLE2
2	seckel syndrome 5	9.9	MCPH1 CEP152
3	seckel syndrome 4	9.8	MCPH1 CEP152
4	microcephaly 1, primary, autosomal recessive	9.8	MCPH1 CEP152
5	microcephaly 19, primary, autosomal recessive	9.8	SHISA5 RTTN CEP152
6	microcephalic osteodysplastic primordial dwarfism, type ii	9.7	MCPH1 CEP152
7	seckel syndrome 8	9.7	PGAP2 CEP152
8	microcephaly 8, primary, autosomal recessive	9.7	WDR62 MCPH1 CEP152
9	microcephaly 6, primary, autosomal recessive	9.7	WDR62 MCPH1 CEP152
10	miller-dieker lissencephaly syndrome	9.7	WDR62 MCPH1
11	periventricular nodular heterotopia	9.7	WDR62 RTTN MCPH1
12	physical disorder	9.6	WDR62 MCPH1 CEP152
13	band heterotopia	9.5	WDR62 MCPH1
14	microcephaly 9, primary, autosomal recessive	9.4	ZNF335 WDR62 MCPH1 CEP152
15	microcephaly 11, primary, autosomal recessive	9.4	ZNF335 WDR62 MCPH1 CEP152
16	microcephaly 4, primary, autosomal recessive	9.4	ZNF335 WDR62 MCPH1 CEP152
17	microcephaly 10, primary, autosomal recessive	9.3	ZNF335 WDR62 RTTN CEP152 ANKLE2
18	microcephaly 7, primary, autosomal recessive	9.3	WDR62 SASS6 RTTN MCPH1 CEP152
19	seckel syndrome	9.2	WDR62 SASS6 RTTN MCPH1 CEP152
20	microcephaly 12, primary, autosomal recessive	9.2	ZNF335 WDR62 RTTN MCPH1 CEP152
21	microcephaly 3, primary, autosomal recessive	9.2	ZNF335 WDR62 RTTN MCPH1 CEP152
22	microcephaly 5, primary, autosomal recessive	9.2	ZNF335 WDR62 RTTN MCPH1 CEP152
23	microcephaly 2, primary, autosomal recessive, with or without cortical malformations	9.2	ZNF335 WDR62 RTTN MCPH1 CEP152
24	congenital nervous system abnormality	9.2	ZNF335 WDR62 SASS6 MCPH1 CEP152
25	microcephaly 17, primary, autosomal recessive	9.1	ZNF335 WDR62 MCPH1 CEP152 ANKLE2
26	autosomal recessive non-syndromic intellectual disability	9.0	WDR62 PGAP2 MCPH1 CEP152
27	microcephaly 18, primary, autosomal dominant	9.0	ZNF335 SHISA5 MCPH1 CEP152 ANKLE2
28	isolated growth hormone deficiency, type ia	8.9	ZNF335 WDR62 SASS6 RTTN MCPH1 CEP152
29	microcephaly 13, primary, autosomal recessive	8.9	ZNF335 WDR62 RTTN MCPH1 CEP152 ANKLE2
30	microcephaly 16, primary, autosomal recessive	8.9	ZNF335 RTTN PGAP2 ITGB3BP ANKLE2
31	microcephaly	8.7	ZNF335 WDR62 SASS6 RTTN MCPH1 CEP152
32	primary microcephaly	8.6	ZNF335 WDR62 SASS6 RTTN MCPH1 CEP152
33	microcephaly 15, primary, autosomal recessive	8.2	ZNF335 SHISA5 RTTN PGAP2 ITGB3BP CEP152
34	primary autosomal recessive microcephaly	8.0	ZNF335 WDR62 SASS6 RTTN PGAP2 MCPH1

Graphical network of the top 20 diseases related to Microcephaly 14, Primary, Autosomal Recessive:

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Symptoms & Phenotypes for Microcephaly 14, Primary, Autosomal Recessive

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

³¹ (show all 7)

#	Description	HPO Frequency	HPO Source Accession
1	cerebellar hypoplasia ³¹	occasional (7.5%)	HP:0001321
2	seizure ³¹	occasional (7.5%)	HP:0001250
3	intellectual disability ³¹		HP:0001249
4	global developmental delay ³¹		HP:0001263
5	microcephaly ³¹		HP:0000252
6	aggressive behavior ³¹		HP:0000718
7	poor speech ³¹		HP:0002465

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

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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:

⁴⁰

Brain, Cortex

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Publications for Microcephaly 14, Primary, Autosomal Recessive

Articles related to Microcephaly 14, Primary, Autosomal Recessive:

#	Title	Authors	PMID	Year
1	A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. ⁵⁶ ⁶	Khan MA...Windpassinger C	24951542	2014
2	Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶	Verloes A...Passemard S	20301772	2009

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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	1374.04	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Unconfirmed association ⁵⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	24951542
2	RTTN	Rotatin	Protein Coding	7.15	DISEASES inferred ¹⁵
3	CEP152	Centrosomal Protein 152	Protein Coding	7.07	DISEASES inferred ¹⁵
4	WDR62	WD Repeat Domain 62	Protein Coding	6.49	DISEASES inferred ¹⁵
5	ZNF335	Zinc Finger Protein 335	Protein Coding	6.37	DISEASES inferred ¹⁵
6	ANKLE2	Ankyrin Repeat And LEM Domain Containing 2	Protein Coding	6.36	DISEASES inferred ¹⁵
7	SHISA5	Shisa Family Member 5	Protein Coding	6.32	DISEASES inferred ¹⁵
8	MCPH1	Microcephalin 1	Protein Coding	6.3	DISEASES inferred ¹⁵
9	PGAP2	Post-GPI Attachment To Proteins 2	Protein Coding	6.25	DISEASES inferred ¹⁵
10	ITGB3BP	Integrin Subunit Beta 3 Binding Protein	Protein Coding	6.24	DISEASES inferred ¹⁵

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Variations for Microcephaly 14, Primary, Autosomal Recessive

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

⁶ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SASS6	NM_194292.3(SASS6):c.185T>C (p.Ile62Thr)	SNV	Pathogenic	192231	rs876661307	1:100588787-100588787	1:100123231-100123231

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

⁷³

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

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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

Cellular components related to Microcephaly 14, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeleton	GO:0005856	9.72	WDR62 SASS6 RTTN MCPH1 CEP152
2	centrosome	GO:0005813	9.56	WDR62 SASS6 RTTN CEP152
3	microtubule organizing center	GO:0005815	9.35	WDR62 SASS6 RTTN MCPH1 CEP152
4	deuterosome	GO:0098536	9.16	SASS6 CEP152
5	centriole	GO:0005814	8.92	WDR62 SASS6 RTTN CEP152

Biological processes related to Microcephaly 14, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cerebral cortex development	GO:0021987	9.16	WDR62 MCPH1
2	centrosome duplication	GO:0051298	8.96	SASS6 CEP152
3	centriole replication	GO:0007099	8.92	WDR62 SASS6 RTTN CEP152

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Sources for Microcephaly 14, Primary, Autosomal Recessive

¹ BioSystems

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

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⁴⁰ MalaCards

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⁴⁷ NCBI Bookshelf

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⁵⁴ Novoseek

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⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

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⁶⁶ Sino Biological

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 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:

Diseases related to Microcephaly 14, Primary, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Microcephaly 14, Primary, Autosomal Recessive:

Symptoms & Phenotypes for Microcephaly 14, Primary, Autosomal Recessive

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Articles related to 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

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

UniProtKB/Swiss-Prot 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

Cellular components related to Microcephaly 14, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

Biological processes related to Microcephaly 14, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

Sources for Microcephaly 14, Primary, Autosomal Recessive