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 57 12 74 29 6 72
Sckl8 57 12 74
Seckel Syndrome, Type 8 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
seckel syndrome 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070009
UMLS 72 C3891452

Summaries for Seckel Syndrome 8

OMIM : 57 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 : 74 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:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 global developmental delay 32 HP:0001263
3 microcephaly 32 HP:0000252
4 short stature 32 HP:0004322
5 micrognathia 32 HP:0000347
6 ectopic kidney 32 HP:0000086
7 kyphoscoliosis 32 HP:0002751
8 convex nasal ridge 32 HP:0000444
9 spinal cord compression 32 HP:0002176

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 8 71
24389050 2014
2
Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature. 8
9128935 1997

Variations for Seckel Syndrome 8

ClinVar genetic disease variations for Seckel Syndrome 8:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DNA2 NM_001080449.2(DNA2): c.3114+6delC deletion Pathogenic 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

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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