MCID: SCK032
MIFTS: 18

Seckel Syndrome 6

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Bone diseases

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:



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). Related phenotypes are microcephaly and delayed speech and language development

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

Description from OMIM: 614728

Related Diseases for Seckel Syndrome 6

Symptoms & Phenotypes for Seckel Syndrome 6

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Neurologic Central Nervous System:
mental retardation

Head And Neck Head:
microcephaly


Clinical features from OMIM:

614728

Human phenotypes related to Seckel Syndrome 6:

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

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

Variations for Seckel Syndrome 6

ClinVar genetic disease variations for Seckel Syndrome 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP63 CEP63, TRP43TER single nucleotide variant Pathogenic
2 CEP63 NM_025180.4(CEP63): c.1068-1G> A single nucleotide variant Pathogenic rs752207334 GRCh38 Chromosome 3, 134549061: 134549061
3 CEP63 NM_025180.4(CEP63): c.1068-1G> A single nucleotide variant Pathogenic rs752207334 GRCh37 Chromosome 3, 134267903: 134267903
4 CEP63 NM_001042383.1(CEP63): c.182_185dupTTAA (p.Lys62Asnfs) duplication Likely pathogenic rs1085307062 GRCh37 Chromosome 3, 134226088: 134226091
5 CEP63 NM_001042383.1(CEP63): c.182_185dupTTAA (p.Lys62Asnfs) duplication Likely pathogenic rs1085307062 GRCh38 Chromosome 3, 134507246: 134507249

Expression for Seckel Syndrome 6

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

Pathways for Seckel Syndrome 6

GO Terms for Seckel Syndrome 6

Sources for Seckel Syndrome 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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