SCKL8
MCID: SCK033
MIFTS: 30
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Seckel Syndrome 8 (SCKL8)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases
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MalaCards integrated aliases for Seckel Syndrome 8:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
based on report of 2 individuals in 1 consanguineous family (last curated may 2014) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Mental diseases Bone diseases Smell/Taste diseases |
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. |
Human phenotypes related to Seckel Syndrome 8:31 (show all 9)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:615807 |
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MalaCards organs/tissues related to Seckel Syndrome 8:40
Spinal Cord,
Kidney
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Articles related to Seckel Syndrome 8:
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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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Cellular components related to Seckel Syndrome 8 according to GeneCards Suite gene sharing:
Biological processes related to Seckel Syndrome 8 according to GeneCards Suite gene sharing:
Molecular functions related to Seckel Syndrome 8 according to GeneCards Suite gene sharing:
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