SCKL7
MCID: SCK029
MIFTS: 36
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Seckel Syndrome 7 (SCKL7)
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 7:
Characteristics:Orphanet epidemiological data:58
microcephalic primordial dwarfism, dauber type
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
based on report of 2 sisters (last curated october 2012) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Bone diseases Smell/Taste diseases Mental diseases
ICD10:
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Seckel syndrome 7: 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 7, also known as sckl7, is related to joubert syndrome 4 and joubert syndrome 3, and has symptoms including seizures An important gene associated with Seckel Syndrome 7 is NIN (Ninein). Affiliated tissues include bone, breast and uterus, and related phenotypes are global developmental delay and delayed skeletal maturation Disease Ontology : 12 A Seckel syndrome that has material basis in compound heterozygous mutation in the NIN gene on chromosome 14q22. |
Diseases in the Seckel Syndrome family:
Diseases related to Seckel Syndrome 7 via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Seckel Syndrome 7:![]() |
Human phenotypes related to Seckel Syndrome 7:58 31 (show all 29)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:614851UMLS symptoms related to Seckel Syndrome 7:seizures |
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MalaCards organs/tissues related to Seckel Syndrome 7:40
Bone,
Breast,
Uterus,
Ovary
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Articles related to Seckel Syndrome 7:
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ClinVar genetic disease variations for Seckel Syndrome 7:6
UniProtKB/Swiss-Prot genetic disease variations for Seckel Syndrome 7:73
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Search
GEO
for disease gene expression data for Seckel Syndrome 7.
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Cellular components related to Seckel Syndrome 7 according to GeneCards Suite gene sharing:(show all 12)
Biological processes related to Seckel Syndrome 7 according to GeneCards Suite gene sharing:
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