MCID: SCK033
MIFTS: 21

Seckel Syndrome 8

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

Aliases & Classifications for Seckel Syndrome 8

MalaCards integrated aliases for Seckel Syndrome 8:

Name: Seckel Syndrome 8 57 12 75 29 6 73
Sckl8 57 12 75
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:



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 ectopic kidney and microcephaly

Disease Ontology : 12 A Seckel syndrome that has material basis in homozygous mutation in the DNA2 gene on chromosome 10q21.

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Head And Neck Face:
micrognathia

Genitourinary Kidneys:
ectopic kidney

Skeletal Spine:
kyphoscoliosis, severe
spinal cord compression

Head And Neck Head:
microcephaly, severe

Head And Neck Nose:
beaked nose

Skeletal Skull:
microcephaly

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


Clinical features from OMIM:

615807

Human phenotypes related to Seckel Syndrome 8:

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

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

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 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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