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MCID: SCK033
MIFTS: 21
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Seckel Syndrome 8
Categories:
Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Bone diseases
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MalaCards integrated aliases for Seckel Syndrome 8:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
based on report of 2 individuals in 1 consanguineous family (last curated may 2014) HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Bone diseases |
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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. |
Diseases in the Seckel Syndrome family:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615807Human phenotypes related to Seckel Syndrome 8:32 (show all 9)
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MalaCards organs/tissues related to Seckel Syndrome 8:41
Spinal Cord,
Kidney
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Genes related to Seckel Syndrome 8 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Seckel Syndrome 8:6
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Search
GEO
for disease gene expression data for Seckel Syndrome 8.
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