FLHS
MCID: FLT006
MIFTS: 45
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Floating-Harbor Syndrome (FLHS)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases
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MalaCards integrated aliases for Floating-Harbor Syndrome:
Characteristics:Orphanet epidemiological data:59
floating-harbor syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
majority of cases are sporadic facial dysmorphism is age-related and alters substantially over time HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Bone diseases Smell/Taste diseases
ICD10:
34
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NIH Rare Diseases
:
53
Floating-Harbor syndrome (FHS) is named after the two hospitals that reported the first cases in the 1970s: Boston Floating Hospital and Harbor General Hospital in California. Signs and symptoms of FHS include short stature, skeletal abnormalities, delayed bone age, kidney problems, minor problems with hearing and vision, characteristic facial features, speech and language problems, and mild to moderate intellectual disabilities. Behavioral difficulties that are present in many children tend to improve with age. FHS is caused by a change (mutation) in the SRCAP gene and inheritance is autosomal dominant. The mutation can be inherited from a parent or can occur for the first time in a person with the syndrome. Communication issues and developmental disabilities may be helped with early intervention programs and special education.
MalaCards based summary : Floating-Harbor Syndrome, also known as flhs, is related to hyperaldosteronism, familial, type ii and hyperaldosteronism, familial, type iii. An important gene associated with Floating-Harbor Syndrome is SRCAP (Snf2 Related CREBBP Activator Protein), and among its related pathways/superpathways is Pathways Affected in Adenoid Cystic Carcinoma. Affiliated tissues include bone, eye and kidney, and related phenotypes are short neck and intellectual disability Genetics Home Reference : 25 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 : 57 Floating-Harbor syndrome is 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 (Lacombe et al., 1995). Rubinstein-Taybi syndrome (see 180849), which shows phenotypic overlap with Floating-Harbor syndrome, is caused by mutation in the CREBBP gene (600140), for which SRCAP is a coactivator. (136140) UniProtKB/Swiss-Prot : 75 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. Wikipedia : 76 Floating�??Harbor syndrome, also known as Pelletier�??Leisti syndrome, is a rare disease with fewer than... more...
GeneReviews:
NBK114458
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:136140Human phenotypes related to Floating-Harbor Syndrome:59 32 (show top 50) (show all 71)
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MalaCards organs/tissues related to Floating-Harbor Syndrome:41
Bone,
Eye,
Kidney,
Heart,
Thyroid,
Liver,
Prostate
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Articles related to Floating-Harbor Syndrome:(show top 50) (show all 62)
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ClinVar genetic disease variations for Floating-Harbor Syndrome:6 (show top 50) (show all 208)
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Search
GEO
for disease gene expression data for Floating-Harbor Syndrome.
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Cellular components related to Floating-Harbor Syndrome according to GeneCards Suite gene sharing:
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:
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