Floating-Harbor Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Bone diseases, Smell/Taste diseases
Aliases & Descriptions for Floating-Harbor Syndrome:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Bone diseases, Smell/Taste diseases
NIH Rare Diseases:46 Floating-harbor syndrome (fhs) is named after the two hospitals that reported the first cases in the 1970's: boston floating hospital and harbor general hospital in california. signs and symptoms of fhs include short stature, skeletal abnormalities, delayed bone age, characteristic facial features, speech and language problems, and mild to moderate intellectual disability. behavioral difficulties that are present in many children tend to improve with age. fhs is caused by a change (mutation) in the srcap gene. the mutation can be inherited from a parent or can occur for the first time in an affected individual. communication issues and developmental disabilities may be helped with early intervention programs and special education. last updated: 4/29/2016
MalaCards based summary: Floating-Harbor Syndrome, also known as pelletier-leisti syndrome, is related to hyperaldosteronism, familial, type iii and hypercholesterolemia, familial, and has symptoms including wide mouth, thin vermilion border and short philtrum. An important gene associated with Floating-Harbor Syndrome is SRCAP (Snf2-Related CREBBP Activator Protein). Affiliated tissues include bone, eye and heart.
UniProtKB/Swiss-Prot:68 Floating-Harbor syndrome: A rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips.
Genetics Home Reference:24 Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features. The condition is named for the hospitals where it was first described, the Boston Floating Hospital and Harbor General Hospital in Torrance, California.
OMIM:50 Floating-Harbor syndrome is a rare genetic disorder characterized by proportionate short stature, delayed bone age,... (136140) more...
Wikipedia:69 Floating–Harbor syndrome, also known as Pelletier–Leisti syndrome, is a rare disease with fewer than... more...
GeneReviews summary for NBK114458
Symptoms by clinical synopsis from OMIM:136140
Clinical features from OMIM:136140
Symptoms:52 (show all 47)
HPO human phenotypes related to Floating-Harbor Syndrome:(show all 72)
UMLS symptoms related to Floating-Harbor Syndrome:joint laxity
MalaCards organs/tissues related to Floating-Harbor Syndrome:34
Bone, Eye, Heart, Kidney, Spinal cord
Articles related to Floating-Harbor Syndrome:(show top 50) (show all 51)
Clinvar genetic disease variations for Floating-Harbor Syndrome:5
Search GEO for disease gene expression data for Floating-Harbor Syndrome.
Biological processes related to Floating-Harbor Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Floating-Harbor Syndrome according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet