Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases, Neuronal diseases
Aliases & Descriptions for Saddan:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases, Skin diseases, Neuronal diseases
UniProtKB/Swiss-Prot:68 Achondroplasia, severe, with developmental delay and acanthosis nigricans: A severe form of achondroplasia associated with developmental delay and acanthosis nigricans. Patients manifest short-limb dwarfism, with a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. Acanthosis nigricans is a skin condition characterized by brown-pigmented, velvety verrucosities in body folds and creases.
MalaCards based summary: Saddan, also known as achondroplasia, severe, with developmental delay and acanthosis nigricans, is related to achondroplasia and acanthosis nigricans, and has symptoms including seizures, cognitive impairment and abnormality of the clavicle. An important gene associated with Saddan is FGFR3 (Fibroblast Growth Factor Receptor 3). Affiliated tissues include skin, brain and bone.
Genetics Home Reference:24 SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities.
Description from OMIM:50 616482
Diseases related to Saddan via text searches within MalaCards or GeneCards Suite gene sharing:
Symptoms by clinical synopsis from OMIM:616482
Clinical features from OMIM:616482
Symptoms:52 (show all 14)
HPO human phenotypes related to Saddan:(show all 31)
MalaCards organs/tissues related to Saddan:34
Skin, Brain, Bone, Cerebellum, Heart
Articles related to Saddan:
Search GEO for disease gene expression data for Saddan.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet