Seckel Syndrome 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Seckel Syndrome 6

MalaCards integrated aliases for Seckel Syndrome 6:

Name: Seckel Syndrome 6 ⁵⁶ ¹² ⁷³ ²⁹ ¹³ ⁶ ¹⁵ ⁷¹

Sckl6 ⁵⁶ ¹² ⁷³

Seckel Syndrome, Type 6 ³⁹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

HPO:

³¹

seckel syndrome 6:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Bone diseases Smell/Taste diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0070006

OMIM ⁵⁶ 614728

OMIM Phenotypic Series ⁵⁶ PS210600

MeSH ⁴³ D004392 D008831

MedGen ⁴¹ C3553582 CN130471

SNOMED-CT via HPO ⁶⁸ 162294008 224958001 228156007 more

UMLS ⁷¹ C3553582

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Summaries for Seckel Syndrome 6

UniProtKB/Swiss-Prot : ⁷³ Seckel syndrome 6: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation.

MalaCards based summary : Seckel Syndrome 6, also known as sckl6, is related to seckel syndrome and microcephaly 7, primary, autosomal recessive. An important gene associated with Seckel Syndrome 6 is CEP63 (Centrosomal Protein 63), and among its related pathways/superpathways is Organelle biogenesis and maintenance. Related phenotypes are intellectual disability and global developmental delay

Disease Ontology : ¹² A Seckel syndrome that has material basis in homozygous mutation in the CEP63 gene on chromosome 3q22.

More information from OMIM: 614728 PS210600

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Related Diseases for Seckel Syndrome 6

Diseases in the Seckel Syndrome family:

Seckel Syndrome 1	Seckel Syndrome 2
Seckel Syndrome 4	Seckel Syndrome 5
Seckel Syndrome 6	Seckel Syndrome 7
Seckel Syndrome 8	Seckel Syndrome 9
Seckel Syndrome 10

Diseases related to Seckel Syndrome 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)

#	Related Disease	Score	Top Affiliating Genes
1	seckel syndrome	10.1	CEP63 CEP152
2	microcephaly 7, primary, autosomal recessive	10.0	CEP63 CEP152
3	microcephaly 3, primary, autosomal recessive	10.0	CEP63 CEP152
4	microcephaly 5, primary, autosomal recessive	10.0	CEP63 CEP152
5	seckel syndrome 5	10.0	CEP63 CEP152
6	microcephalic osteodysplastic primordial dwarfism, type ii	9.9	CEP63 CEP152
7	microcephaly 19, primary, autosomal recessive	9.9	CEP57 CEP152
8	congenital nervous system abnormality	9.9	CEP63 CEP152
9	isolated growth hormone deficiency, type ia	9.9	CEP63 CEP152
10	primary microcephaly	9.6	CEP63 CEP152
11	joubert syndrome 1	9.4	CEP63 CEP57 CEP152
12	primary autosomal recessive microcephaly	9.3	DEUP1 CEP63 CEP57 CEP152

Graphical network of the top 20 diseases related to Seckel Syndrome 6:

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Symptoms & Phenotypes for Seckel Syndrome 6

Human phenotypes related to Seckel Syndrome 6:

³¹

#	Description	HPO Source Accession
1	intellectual disability ³¹	HP:0001249
2	global developmental delay ³¹	HP:0001263
3	delayed speech and language development ³¹	HP:0000750
4	microcephaly ³¹	HP:0000252
5	short stature ³¹	HP:0004322

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
mental retardation

Growth Height:
short stature

Clinical features from OMIM:

614728

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Drugs & Therapeutics for Seckel Syndrome 6

Search Clinical Trials , NIH Clinical Center for Seckel Syndrome 6

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Genetic Tests for Seckel Syndrome 6

Genetic tests related to Seckel Syndrome 6:

#	Genetic test	Affiliating Genes
1	Seckel Syndrome 6 ²⁹	CEP63

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Anatomical Context for Seckel Syndrome 6

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Publications for Seckel Syndrome 6

Articles related to Seckel Syndrome 6:

#	Title	Authors	PMID	Year
1	A primary microcephaly protein complex forms a ring around parental centrioles. ⁶ ⁵⁶	Sir JH...Gergely F	21983783	2011
2	Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶ ⁶¹	Verloes A...Passemard S	20301772	2009

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Genes for Seckel Syndrome 6

Genes related to Seckel Syndrome 6 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CEP63	Centrosomal Protein 63	Protein Coding	1074.41	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ Unconfirmed association ⁵⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	20301772 21983783
2	DEUP1	Deuterosome Assembly Protein 1	Protein Coding	7.32	DISEASES inferred ¹⁵
3	CEP152	Centrosomal Protein 152	Protein Coding	6.94	DISEASES inferred ¹⁵
4	CEP57	Centrosomal Protein 57	Protein Coding	6.64	DISEASES inferred ¹⁵
5	PAQR9	Progestin And AdipoQ Receptor Family Member 9	Protein Coding	6.11	DISEASES inferred ¹⁵
6	ZNF507	Zinc Finger Protein 507	Protein Coding	6.08	DISEASES inferred ¹⁵
7	TNRC18	Trinucleotide Repeat Containing 18	Protein Coding	6.05	DISEASES inferred ¹⁵

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Variations for Seckel Syndrome 6

ClinVar genetic disease variations for Seckel Syndrome 6:

⁶ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CEP63	NM_001042384.2(CEP63):c.129G>A (p.Trp43Ter)	SNV	Pathogenic	35517	rs1164567042	3:134226035-134226035	3:134507193-134507193
2	CEP63	NM_001042384.2(CEP63):c.930-1G>A	SNV	Pathogenic	210698	rs752207334	3:134267903-134267903	3:134549061-134549061
3	CEP63	NM_001042384.2(CEP63):c.182_185dup (p.Lys62delinsAsnTer)	duplication	Likely pathogenic	225312	rs746387482	3:134226087-134226088	3:134507245-134507246

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Expression for Seckel Syndrome 6

Search GEO for disease gene expression data for Seckel Syndrome 6.

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Pathways for Seckel Syndrome 6

Pathways related to Seckel Syndrome 6 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Organelle biogenesis and maintenance ⁶⁵ Show member pathways Cilium Assembly ⁶⁵	11.53	CEP63 CEP57 CEP152

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GO Terms for Seckel Syndrome 6

Cellular components related to Seckel Syndrome 6 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	centrosome	GO:0005813	9.43	CEP63 CEP57 CEP152
2	microtubule organizing center	GO:0005815	9.33	CEP63 CEP57 CEP152
3	centriole	GO:0005814	9.13	DEUP1 CEP63 CEP152
4	deuterosome	GO:0098536	8.62	DEUP1 CEP152

Biological processes related to Seckel Syndrome 6 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	G2/M transition of mitotic cell cycle	GO:0000086	9.5	CEP63 CEP57 CEP152
2	ciliary basal body-plasma membrane docking	GO:0097711	9.43	CEP63 CEP57 CEP152
3	cell projection organization	GO:0030030	9.37	DEUP1 CEP152
4	regulation of G2/M transition of mitotic cell cycle	GO:0010389	9.33	CEP63 CEP57 CEP152
5	centriole replication	GO:0007099	9.13	DEUP1 CEP63 CEP152
6	de novo centriole assembly involved in multi-ciliated epithelial cell differentiation	GO:0098535	8.8	DEUP1 CEP63 CEP152

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Sources for Seckel Syndrome 6

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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⁶ ClinVar

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⁹ Cosmic

¹⁰ dbSNP

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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

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

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

Seckel Syndrome 6 (SCKL6)

Aliases & Classifications for Seckel Syndrome 6

MalaCards integrated aliases for Seckel Syndrome 6:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Seckel Syndrome 6

Related Diseases for Seckel Syndrome 6

Diseases in the Seckel Syndrome family:

Diseases related to Seckel Syndrome 6 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Seckel Syndrome 6:

Symptoms & Phenotypes for Seckel Syndrome 6

Human phenotypes related to Seckel Syndrome 6:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Seckel Syndrome 6

Genetic Tests for Seckel Syndrome 6

Genetic tests related to Seckel Syndrome 6:

Anatomical Context for Seckel Syndrome 6

Publications for Seckel Syndrome 6

Articles related to Seckel Syndrome 6:

Genes for Seckel Syndrome 6

Genes related to Seckel Syndrome 6 (1 elite genes):

Variations for Seckel Syndrome 6

ClinVar genetic disease variations for Seckel Syndrome 6:

Expression for Seckel Syndrome 6

Pathways for Seckel Syndrome 6

Pathways related to Seckel Syndrome 6 according to GeneCards Suite gene sharing:

GO Terms for Seckel Syndrome 6

Cellular components related to Seckel Syndrome 6 according to GeneCards Suite gene sharing:

Biological processes related to Seckel Syndrome 6 according to GeneCards Suite gene sharing:

Sources for Seckel Syndrome 6