SCKL8
MCID: SCK033
MIFTS: 21

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 58 12 76 30 6 74
Sckl8 58 12 76
Seckel Syndrome, Type 8 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
seckel syndrome 8:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Seckel Syndrome 8

OMIM : 58 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, is also known as sckl8. An important gene associated with Seckel Syndrome 8 is DNA2 (DNA Replication Helicase/Nuclease 2). 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 : 76 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

Symptoms & Phenotypes for Seckel Syndrome 8

Human phenotypes related to Seckel Syndrome 8:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 global developmental delay 33 HP:0001263
3 microcephaly 33 HP:0000252
4 short stature 33 HP:0004322
5 micrognathia 33 HP:0000347
6 ectopic kidney 33 HP:0000086
7 kyphoscoliosis 33 HP:0002751
8 convex nasal ridge 33 HP:0000444
9 spinal cord compression 33 HP:0002176

Symptoms via clinical synopsis from OMIM:

58
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 30 DNA2

Anatomical Context for Seckel Syndrome 8

MalaCards organs/tissues related to Seckel Syndrome 8:

42
Spinal Cord, Kidney

Publications for Seckel Syndrome 8

Variations for Seckel Syndrome 8

ClinVar genetic disease variations for Seckel Syndrome 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DNA2 NM_001080449.2(DNA2): c.3114+6delC deletion Pathogenic rs587777614 GRCh37 Chromosome 10, 70176460: 70176460
2 DNA2 NM_001080449.2(DNA2): c.3114+6delC deletion Pathogenic rs587777614 GRCh38 Chromosome 10, 68416703: 68416703

Expression for Seckel Syndrome 8

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

Pathways for Seckel Syndrome 8

GO Terms for Seckel Syndrome 8

Sources for Seckel Syndrome 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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