SCKL8
MCID: SCK033
MIFTS: 30

Seckel Syndrome 8 (SCKL8)

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

Aliases & Classifications for Seckel Syndrome 8

MalaCards integrated aliases for Seckel Syndrome 8:

Name: Seckel Syndrome 8 56 12 73 29 6 15 71
Sckl8 56 12 73
Seckel Syndrome, Type 8 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 individuals in 1 consanguineous family (last curated may 2014)


HPO:

31
seckel syndrome 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070009
OMIM 56 615807
OMIM Phenotypic Series 56 PS210600
UMLS 71 C3891452

Summaries for Seckel Syndrome 8

OMIM : 56 Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (summary by Shanske et al., 1997). For a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600). (615807)

MalaCards based summary : Seckel Syndrome 8, also known as sckl8, is related to microcephaly 15, primary, autosomal recessive and microcephaly 14, primary, autosomal recessive. An important gene associated with Seckel Syndrome 8 is DNA2 (DNA Replication Helicase/Nuclease 2), and among its related pathways/superpathways is Cell Cycle, Mitotic. Affiliated tissues include spinal cord and kidney, 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 DNA2 gene on chromosome 10q21.

UniProtKB/Swiss-Prot : 73 Seckel syndrome 8: 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.

Related Diseases for Seckel Syndrome 8

Graphical network of the top 20 diseases related to Seckel Syndrome 8:



Diseases related to Seckel Syndrome 8

Symptoms & Phenotypes for Seckel Syndrome 8

Human phenotypes related to Seckel Syndrome 8:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 global developmental delay 31 HP:0001263
3 microcephaly 31 HP:0000252
4 short stature 31 HP:0004322
5 micrognathia 31 HP:0000347
6 ectopic kidney 31 HP:0000086
7 kyphoscoliosis 31 HP:0002751
8 convex nasal ridge 31 HP:0000444
9 spinal cord compression 31 HP:0002176

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
global developmental delay
paraplegia secondary to spinal cord compression due to severe kyphosis

Growth Height:
short stature

Genitourinary Kidneys:
ectopic kidney

Head And Neck Nose:
beaked nose

Skeletal Skull:
microcephaly

Head And Neck Face:
micrognathia

Skeletal Spine:
spinal cord compression
kyphoscoliosis, severe

Head And Neck Head:
microcephaly, severe

Clinical features from OMIM:

615807

Drugs & Therapeutics for Seckel Syndrome 8

Search Clinical Trials , NIH Clinical Center for Seckel Syndrome 8

Genetic Tests for Seckel Syndrome 8

Genetic tests related to Seckel Syndrome 8:

# Genetic test Affiliating Genes
1 Seckel Syndrome 8 29 DNA2

Anatomical Context for Seckel Syndrome 8

MalaCards organs/tissues related to Seckel Syndrome 8:

40
Spinal Cord, Kidney

Publications for Seckel Syndrome 8

Articles related to Seckel Syndrome 8:

# Title Authors PMID Year
1
Genomic analysis of primordial dwarfism reveals novel disease genes. 56 6
24389050 2014
2
Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature. 56
9128935 1997

Variations for Seckel Syndrome 8

ClinVar genetic disease variations for Seckel Syndrome 8:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNA2 NM_001080449.3(DNA2):c.3114+6deldeletion Pathogenic 143932 rs587777614 10:70176460-70176460 10:68416703-68416703

Expression for Seckel Syndrome 8

Search GEO for disease gene expression data for Seckel Syndrome 8.

Pathways for Seckel Syndrome 8

Pathways related to Seckel Syndrome 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.08 RBBP8 NUP85 DNA2 CEP152

GO Terms for Seckel Syndrome 8

Cellular components related to Seckel Syndrome 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial nucleoid GO:0042645 8.62 TEFM DNA2

Biological processes related to Seckel Syndrome 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of signal transduction by p53 class mediator GO:1901796 9.32 RBBP8 DNA2
2 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.26 RBBP8 DNA2
3 GPI anchor biosynthetic process GO:0006506 9.16 PGAP2 CWH43
4 DNA double-strand break processing GO:0000729 8.96 RBBP8 DNA2
5 mitochondrial DNA replication GO:0006264 8.62 TEFM DNA2

Molecular functions related to Seckel Syndrome 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclease activity GO:0004518 8.96 RBBP8 DNA2
2 endonuclease activity GO:0004519 8.62 RBBP8 DNA2

Sources for Seckel Syndrome 8

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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