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

Sources

Aliases & Classifications for Seckel Syndrome 6

MalaCards integrated aliases for Seckel Syndrome 6:

Name: Seckel Syndrome 6 ⁵⁷ ¹² ⁷² ²⁹ ¹³ ⁶ ¹⁵ ⁷⁰

Sckl6 ⁵⁷ ¹² ⁷²

Seckel Syndrome, Type 6 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

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 Eye diseases Smell/Taste diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0070006

OMIM® ⁵⁷ 614728

OMIM Phenotypic Series ⁵⁷ PS210600

MeSH ⁴⁴ D004392 D008831

MedGen ⁴¹ C3553582 CN130471

SNOMED-CT via HPO ⁶⁸ 162294008 224958001 228156007 more

UMLS ⁷⁰ C3553582

Sources

Summaries for Seckel Syndrome 6

UniProtKB/Swiss-Prot : ⁷² 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 microcephaly 3, primary, autosomal recessive 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. Affiliated tissues include eye, and 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

Sources

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 14)

#	Related Disease	Score	Top Affiliating Genes
1	microcephaly 3, primary, autosomal recessive	10.0	CEP63 CEP152
2	microcephaly 7, primary, autosomal recessive	10.0	CEP63 CEP152
3	microcephaly 5, primary, autosomal recessive	10.0	CEP63 CEP152
4	microcephalic osteodysplastic primordial dwarfism, type ii	10.0	CEP63 CEP152
5	seckel syndrome 5	10.0	CEP63 CEP152
6	congenital nervous system abnormality	10.0	CEP63 CEP152
7	microcephaly 19, primary, autosomal recessive	10.0	CEP57 CEP152
8	isolated growth hormone deficiency, type ia	9.9	CEP63 CEP152
9	isolated growth hormone deficiency	9.9	CEP63 CEP152
10	primary microcephaly	9.9	CEP63 CEP152
11	seckel syndrome	9.8	DEUP1 CEP63 CEP152
12	mosaic variegated aneuploidy syndrome	9.8	CEP63 CEP57 CEP152
13	primary autosomal recessive microcephaly	9.6	DEUP1 CEP63 CEP57 CEP152
14	joubert syndrome 1	9.5	CEP63 CEP57 CEP152

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

Sources

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®:

⁵⁷ (Updated 20-May-2021)

Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
mental retardation

Growth Height:
short stature

Clinical features from OMIM®:

614728 (Updated 20-May-2021)

Sources

Drugs & Therapeutics for Seckel Syndrome 6

Search Clinical Trials , NIH Clinical Center for Seckel Syndrome 6

Sources

Genetic Tests for Seckel Syndrome 6

Genetic tests related to Seckel Syndrome 6:

#	Genetic test	Affiliating Genes
1	Seckel Syndrome 6 ²⁹	CEP63

Sources

Anatomical Context for Seckel Syndrome 6

MalaCards organs/tissues related to Seckel Syndrome 6:

⁴⁰

Eye

Sources

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 ⁵⁷	Sir JH...Gergely F	21983783	2011
2	Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶¹	Verloes A...Passemard S	20301772	2009

Sources

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	PubMed IDs
1	CEP63	Centrosomal Protein 63	Protein Coding	1099.45	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	21983783
2	DEUP1	Deuterosome Assembly Protein 1	Protein Coding	7.27	DISEASES inferred ¹⁵
3	CEP152	Centrosomal Protein 152	Protein Coding	6.91	DISEASES inferred ¹⁵
4	CEP57	Centrosomal Protein 57	Protein Coding	6.59	DISEASES inferred ¹⁵
5	PAQR9	Progestin And AdipoQ Receptor Family Member 9	Protein Coding	6.09	DISEASES inferred ¹⁵
6	ZNF507	Zinc Finger Protein 507	Protein Coding	6.01	DISEASES inferred ¹⁵
7	TNRC18	Trinucleotide Repeat Containing 18	Protein Coding	5.98	DISEASES inferred ¹⁵

Sources

Variations for Seckel Syndrome 6

ClinVar genetic disease variations for Seckel Syndrome 6:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CEP63	NM_001042384.2(CEP63):c.129G>A (p.Trp43Ter)	SNV	Pathogenic	35517	rs1164567042	GRCh37: 3:134226035-134226035 GRCh38: 3:134507193-134507193
2	CEP63	NM_001353108.3(CEP63):c.790-2A>G	SNV	Pathogenic	977835		GRCh37: 3:134264989-134264989 GRCh38: 3:134546147-134546147
3	CEP63	NM_001042384.2(CEP63):c.182_185dup (p.Lys62delinsAsnTer)	Duplication	Likely pathogenic	225312	rs746387482	GRCh37: 3:134226087-134226088 GRCh38: 3:134507245-134507246
4	CEP63	NM_001042384.2(CEP63):c.930-1G>A	SNV	Conflicting interpretations of pathogenicity	210698	rs752207334	GRCh37: 3:134267903-134267903 GRCh38: 3:134549061-134549061
5	CEP63	NM_001042384.2(CEP63):c.668A>G (p.Asn223Ser)	SNV	Uncertain significance	377098	rs140583017	GRCh37: 3:134264540-134264540 GRCh38: 3:134545698-134545698
6	CEP63	NM_001353108.3(CEP63):c.1657A>G (p.Lys553Glu)	SNV	Uncertain significance	1030913		GRCh37: 3:134277173-134277173 GRCh38: 3:134558331-134558331
7	CEP63	NM_001042384.2(CEP63):c.1329+9384C>A	SNV	Uncertain significance	434752	rs781235688	GRCh37: 3:134280238-134280238 GRCh38: 3:134561396-134561396
8	CEP63	NM_001042384.2(CEP63):c.929+1052G>A	SNV	Uncertain significance	434753	rs371924128	GRCh37: 3:134266182-134266182 GRCh38: 3:134547340-134547340

Sources

Expression for Seckel Syndrome 6

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

Sources

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

Sources

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	regulation of G2/M transition of mitotic cell cycle	GO:0010389	9.33	CEP63 CEP57 CEP152
4	centriole replication	GO:0007099	9.13	DEUP1 CEP63 CEP152
5	de novo centriole assembly involved in multi-ciliated epithelial cell differentiation	GO:0098535	8.8	DEUP1 CEP63 CEP152

Sources

Sources for Seckel Syndrome 6

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

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 MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ 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

MalaCards organs/tissues related to 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