BFLS
MCID: BRJ001
MIFTS: 52
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Borjeson-Forssman-Lehmann Syndrome (BFLS)
Categories:
Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Borjeson-Forssman-Lehmann Syndrome:
Characteristics:Inheritance:OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 mutation) some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation) Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases Endocrine diseases Mental diseases Ear diseases
ICD10:
32
Orphanet: 58
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OMIM®: 57 Borjeson-Forssman-Lehmann syndrome (BFLS) is an uncommon X-linked intellectual developmental disorder that evolves with age. Clinical manifestations in males are quite variable, with the most consistent features being initial hypotonia, mild to moderate impaired intellectual development, large fleshy ears, underdeveloped genitalia, gynecomastia, truncal obesity, tapering fingers, and shortening of the fourth and fifth toes. Heterozygous females may have a milder similar clinical phenotype, which can include hypothyroidism; however, many carrier females appear unaffected (summary by Crawford et al., 2006). (301900) (Updated 08-Dec-2022) MalaCards based summary: Borjeson-Forssman-Lehmann Syndrome, also known as bfls, is related to brachydactyly and coffin-siris syndrome 1, and has symptoms including seizures An important gene associated with Borjeson-Forssman-Lehmann Syndrome is PHF6 (PHD Finger Protein 6), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Bardet-Biedl syndrome. Affiliated tissues include eye, prostate and skeletal muscle, and related phenotypes are intellectual disability and hypotonia GARD: 19 Borjeson-Forssman-Lehmann syndrome (BFLS) is a genetic condition characterized by intellectual disability, obesity, seizures, hypogonadism, developmental delay and distinctive facial features. These symptoms are variable, even among members of the same family. BFLS is caused by genetic changes in the PHF6 gene on the X chromosome. This genetic change is usually transmitted as an X-linked recessive trait, which means the disorder is fully expressed predominantly in males. Disease Ontology: 11 An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has material basis in X-linked recessive inheritance of mutations in the PHF6 gene. UniProtKB/Swiss-Prot: 73 An X-linked recessive disorder characterized by moderate to severe intellectual disability, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears. Orphanet: 58 Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes. Wikipedia: 75 Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare genetic disease that causes intellectual disability,... more... |
Human phenotypes related to Borjeson-Forssman-Lehmann Syndrome:58 30 (show top 50) (show all 54)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:301900 (Updated 08-Dec-2022)UMLS symptoms related to Borjeson-Forssman-Lehmann Syndrome:seizures MGI Mouse Phenotypes related to Borjeson-Forssman-Lehmann Syndrome:45
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Cochrane evidence based reviews: borjeson-forssman-lehmann syndrome |
Organs/tissues related to Borjeson-Forssman-Lehmann Syndrome:
MalaCards :
Eye,
Prostate,
Skeletal Muscle,
Testes,
Bone,
Brain,
Pituitary
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Articles related to Borjeson-Forssman-Lehmann Syndrome:(show top 50) (show all 70)
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ClinVar genetic disease variations for Borjeson-Forssman-Lehmann Syndrome:5 (show all 50)
UniProtKB/Swiss-Prot genetic disease variations for Borjeson-Forssman-Lehmann Syndrome:73
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Search
GEO
for disease gene expression data for Borjeson-Forssman-Lehmann Syndrome.
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Pathways related to Borjeson-Forssman-Lehmann Syndrome according to GeneCards Suite gene sharing:
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Cellular components related to Borjeson-Forssman-Lehmann Syndrome according to GeneCards Suite gene sharing:
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