Seckel Syndrome 1 malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources
Aliases & Descriptions for Seckel Syndrome 1:
Orphanet epidemiological data:53
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy
seckel syndrome 1:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Bone diseases
ICD10: 30 29
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
OMIM:51 Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism,... (210600) more...
MalaCards based summary: Seckel Syndrome 1, also known as seckel syndrome, is related to seckel syndrome 4 and microcephalic primordial dwarfism, toriello type, and has symptoms including microcephaly, narrow face and micrognathia. An important gene associated with Seckel Syndrome 1 is ATR (ATR Serine/Threonine Kinase), and among its related pathways are BARD1 signaling events and Chks in Checkpoint Regulation. Affiliated tissues include bone and eye, and related mouse phenotype embryo.
Disease Ontology:11 An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.
UniProtKB/Swiss-Prot:69 Seckel syndrome 1: 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.
Wikipedia:70 The Seckel syndrome or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper\'s... more...
Human phenotypes related to Seckel Syndrome 1:63 53 (show all 69)
UMLS symptoms related to Seckel Syndrome 1:seizures
MalaCards organs/tissues related to Seckel Syndrome 1:35
Clinvar genetic disease variations for Seckel Syndrome 1:5
Search GEO for disease gene expression data for Seckel Syndrome 1.
Pathways related to Seckel Syndrome 1 according to GeneCards Suite gene sharing:
Cellular components related to Seckel Syndrome 1 according to GeneCards Suite gene sharing:(show all 11)
Biological processes related to Seckel Syndrome 1 according to GeneCards Suite gene sharing:(show all 9)
Molecular functions related to Seckel Syndrome 1 according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet