SCKL6
MCID: SCK032
MIFTS: 31

Seckel Syndrome 6 (SCKL6)

Categories: Bone diseases, Eye 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 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:



External Ids:

Disease Ontology 12 DOID:0070006
OMIM® 57 614728
OMIM Phenotypic Series 57 PS210600
UMLS 70 C3553582

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

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®:

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)

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

MalaCards organs/tissues related to Seckel Syndrome 6:

40
Eye

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Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61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

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

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 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 for Seckel Syndrome 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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