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 ⁵⁷ ¹² ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Sckl6 ⁵⁷ ¹² ⁷⁵

Seckel Syndrome, Type 6 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

HPO:

³²

seckel syndrome 6:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 614728

Disease Ontology ¹² DOID:0070006

MedGen ⁴² C3553582 CN130471

MeSH ⁴⁴ D004392 D008831

SNOMED-CT via HPO ⁶⁹ 258211005 271611007 162294008 more

UMLS ⁷³ C3553582

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Summaries for Seckel Syndrome 6

UniProtKB/Swiss-Prot : ⁷⁵ 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, is also known as sckl6. An important gene associated with Seckel Syndrome 6 is CEP63 (Centrosomal Protein 63). Affiliated tissues include bone, 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.

Description from OMIM: 614728

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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

Sources

Symptoms & Phenotypes for Seckel Syndrome 6

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
mental retardation

Growth Height:
short stature

Clinical features from OMIM:

614728

Human phenotypes related to Seckel Syndrome 6:

³²

#	Description	HPO Source Accession
1	intellectual disability ³²	HP:0001249
2	global developmental delay ³²	HP:0001263
3	delayed speech and language development ³²	HP:0000750
4	microcephaly ³²	HP:0000252
5	short stature ³²	HP:0004322

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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

MalaCards organs/tissues related to Seckel Syndrome 6:

⁴¹

Bone

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Publications for Seckel Syndrome 6

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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	1077.04	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	20301772 21983783

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Variations for Seckel Syndrome 6

ClinVar genetic disease variations for Seckel Syndrome 6:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CEP63	NG_032870.1: g.26461G> A	single nucleotide variant	Pathogenic		GRCh38	Chromosome 3, 134507193: 134507193
2	CEP63	NG_032870.1: g.26461G> A	single nucleotide variant	Pathogenic		GRCh37	Chromosome 3, 134226035: 134226035
3	CEP63	NM_025180.4(CEP63): c.1068-1G> A	single nucleotide variant	Pathogenic	rs752207334	GRCh38	Chromosome 3, 134549061: 134549061
4	CEP63	NM_025180.4(CEP63): c.1068-1G> A	single nucleotide variant	Pathogenic	rs752207334	GRCh37	Chromosome 3, 134267903: 134267903
5	CEP63	NM_001042383.1(CEP63): c.182_185dupTTAA (p.Lys62Asnfs)	duplication	Likely pathogenic	rs1085307062	GRCh37	Chromosome 3, 134226088: 134226091
6	CEP63	NM_001042383.1(CEP63): c.182_185dupTTAA (p.Lys62Asnfs)	duplication	Likely pathogenic	rs1085307062	GRCh38	Chromosome 3, 134507246: 134507249

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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

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GO Terms for Seckel Syndrome 6

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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 ExPASy

¹⁸ FDA Approved Drugs

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

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

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 NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

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

SCKL6 MCID: SCK032 MIFTS: 19	Seckel Syndrome 6 (SCKL6) Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases
Genes Variations Tissues Symptoms & Phenotypes Expand all tables

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:

Symptoms & Phenotypes for Seckel Syndrome 6

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Seckel Syndrome 6:

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

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

GO Terms for Seckel Syndrome 6

Sources for Seckel Syndrome 6