SCKL6
MCID: SCK032
MIFTS: 29

Seckel Syndrome 6 (SCKL6)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

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:



External Ids:

Disease Ontology 12 DOID:0070006
OMIM 56 614728
OMIM Phenotypic Series 56 PS210600
UMLS 71 C3553582

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

Related Diseases for Seckel Syndrome 6

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



Diseases related to Seckel Syndrome 6

Symptoms & Phenotypes for Seckel Syndrome 6

Human phenotypes related to Seckel Syndrome 6:

31
# Description HPO Frequency 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

Drugs & Therapeutics for Seckel Syndrome 6

Search Clinical Trials , NIH Clinical Center for Seckel Syndrome 6

Genetic Tests for Seckel Syndrome 6

Genetic tests related to Seckel Syndrome 6:

# Genetic test Affiliating Genes
1 Seckel Syndrome 6 29 CEP63

Anatomical Context for Seckel Syndrome 6

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
21983783 2011
2
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6 61
20301772 2009

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>ASNV 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

Expression for Seckel Syndrome 6

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

Pathways for Seckel Syndrome 6

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.53 CEP63 CEP57 CEP152

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

Sources for Seckel Syndrome 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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