SCKL9
MCID: SCK037
MIFTS: 24
|
Seckel Syndrome 9 (SCKL9)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases
|
|
MalaCards integrated aliases for Seckel Syndrome 9:Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
patients may die in infancy or childhood due to respiratory failure HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Bone diseases Smell/Taste diseases Mental diseases |
UniProtKB/Swiss-Prot :
73
Seckel syndrome 9: A form of Seckel syndrome, 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.
MalaCards based summary : Seckel Syndrome 9, is also known as sckl9. An important gene associated with Seckel Syndrome 9 is TRAIP (TRAF Interacting Protein). Affiliated tissues include cortex and kidney, and related phenotypes are asthma and pulmonary artery hypoplasia Disease Ontology : 12 A Seckel syndrome that has material basis in homozygous mutation in the TRAIP gene on chromosome 3p21. |
Diseases in the Seckel Syndrome family:
|
Human phenotypes related to Seckel Syndrome 9:31 (show all 27)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:616777 |
|
MalaCards organs/tissues related to Seckel Syndrome 9:40
Cortex,
Kidney
|
Articles related to Seckel Syndrome 9:
|
ClinVar genetic disease variations for Seckel Syndrome 9:6
UniProtKB/Swiss-Prot genetic disease variations for Seckel Syndrome 9:73
|
Search
GEO
for disease gene expression data for Seckel Syndrome 9.
|
|
|