BFLS
MCID: BRJ001
MIFTS: 59

Borjeson-Forssman-Lehmann Syndrome (BFLS) malady

Neuronal diseases, Eye diseases, Endocrine diseases, Fetal diseases categories

Summaries for Borjeson-Forssman-Lehmann Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 mutations in the phf6 gene on the x chromosome. this mutation is usually transmitted as an x-linked recessive trait, which means the disorder is fully expressed predominantly in males. last updated: 10/20/2011

MalaCards: Borjeson-Forssman-Lehmann Syndrome, also known as borjeson syndrome, is related to hypogonadism and dilated cardiomyopathy, and has symptoms including blepharophimosis/short palpebral fissures, deepset eyes/enophthalmos and cleft lip and palate. An important gene associated with Borjeson-Forssman-Lehmann Syndrome is PHF6 (PHD finger protein 6), and among its related pathways are Regulation of RAC1 activity and Signaling by Slit. The compounds acth and gnrh have been mentioned in the context of this disorder. Affiliated tissues include testes, eye and breast, and related mouse phenotypes are endocrine/exocrine gland and craniofacial.

Disease Ontology:8 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.

Description from OMIM:46 301900

Aliases & Classifications for Borjeson-Forssman-Lehmann Syndrome

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Endocrine diseases


Characteristics (Orphanet epidemiological data):

48
borjeson-forssman-lehmann syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

borjeson-forssman-lehmann syndrome 8 9 42 20 22 46 10 44 48 60
borjeson syndrome 8 42
bfls 42 48
intelectual deficiency - epilepsy - endocrine disorders 48
mental deficiency, epilepsy and endocrine disorders 42
mental deficiency-epilepsy-endocrine disorders 42
borj 42


External Ids:

Disease Ontology8 DOID:0050681
MeSH34 C536575
OMIM46 301900
MESH via Orphanet35 C536575
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet57 21634003
UMLS via Orphanet61 C0265339

Related Diseases for Borjeson-Forssman-Lehmann Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Borjeson-Forssman-Lehmann Syndrome:



Diseases related to borjeson-forssman-lehmann syndrome

Clinical Features for Borjeson-Forssman-Lehmann Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

301900

Clinical synopsis from OMIM:

301900

Symptoms:

48 (show all 35)
  • blepharophimosis/short palpebral fissures
  • deepset eyes/enophthalmos
  • cleft lip and palate
  • micropenis/small penis/agenesis
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • gynecomastia/breast/mammary gland enlargement/hyperplasia
  • decreased body hair/axillar/pubic hairlessness
  • flexion deformity of toes (excluding big toe)/hammer toe/camptodactyly of toes
  • thick/wide ear lobe
  • tapered fingers
  • truncal obesity
  • hypoplastic scrotum/hemiscrotum/scrotal ridges
  • broad foot
  • x-linked recessive inheritance
  • short foot/brachydactyly of toes
  • hyperextensible joints/articular hyperlaxity
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • nystagmus
  • ptosis
  • hypotonia
  • coarse face
  • cataract/lens opacification
  • hearing loss/hypoacusia/deafness
  • prominent supraorbital ridge
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • thick/bushy eyebrows
  • short stature/dwarfism/nanism
  • microcephaly
  • late puberty/hypogonadism/hypogenitalism
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • peripheral neuropathy
  • macrocephaly/macrocrania/megalocephaly/megacephaly

Drugs & Therapeutics for Borjeson-Forssman-Lehmann Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Borjeson-Forssman-Lehmann Syndrome

Drug clinical trials:

Search ClinicalTrials for Borjeson-Forssman-Lehmann Syndrome

Search NIH Clinical Center for Borjeson-Forssman-Lehmann Syndrome

Search CenterWatch for Borjeson-Forssman-Lehmann Syndrome

Genetic Tests for Borjeson-Forssman-Lehmann Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Borjeson-Forssman-Lehmann Syndrome:

id Genetic test Affiliating Genes
1 Borjeson-Forssman-Lehmann Syndrome20 22 PHF6

Anatomical Context for Borjeson-Forssman-Lehmann Syndrome

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32MalaCards
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MalaCards organs/tissues related to Borjeson-Forssman-Lehmann Syndrome:

32
Testes, Eye, Breast, Pituitary

Animal Models for Borjeson-Forssman-Lehmann Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Borjeson-Forssman-Lehmann Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.4LHX4, LHX3, HESX1, SOX3, PROP1, POU1F1
2MP:00053828.4LHX3, HESX1, SOX3, MECOM, POU1F1
3MP:00053767.4LHX4, LHX3, SOX3, MECOM, PROP1, POU1F1
4MP:00107687.1LHX4, LHX3, HESX1, SOX3, MECOM, PROP1
5MP:00053846.9KLF10, LHX4, SOX3, ARHGEF6, MECOM, PROP1
6MP:00036316.4DLG3, LHX4, LHX3, HESX1, SOX3, ARHGEF6

Publications for Borjeson-Forssman-Lehmann Syndrome

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50PubMed
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Articles related to Borjeson-Forssman-Lehmann Syndrome:

(show all 14)
idTitleAuthorsYear
1
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. (24092917)
2013
2
PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females. (22190899)
2011
3
Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. (15994862)
2006
4
Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6. (15580208)
2004
5
Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency. (14714754)
2003
6
Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene. (14714741)
2003
7
Borjeson-Forssman-Lehmann syndrome and dilated cardiomyopathy: a previously unreported association. (11173318)
2001
8
Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Borjeson-Forssman-Lehmann syndrome and MRX27. (11337747)
2001
9
Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Borjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient. (10071193)
1999
10
Borjeson-Forssman-Lehmann syndrome: two severely handicapped females in a family. (9213062)
1997
11
Male pseudohermaphroditism with persistent mA1llerian structures, mental retardation and Borjeson-Forssman-Lehmann-like features: a new syndrome? (2098045)
1990
12
The Borjeson-Forssman-Lehmann syndrome. A family study. (3720009)
1986
13
Borjeson-Forssman-Lehmann syndrome in a girl. (6439922)
1984
14
Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome. (564968)
1978

Genetic Variations for Borjeson-Forssman-Lehmann Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Borjeson-Forssman-Lehmann Syndrome:

62
id Symbol AA change Variation ID SNP ID
1PHF6p.Cys45TyrVAR_017633rs28935179
2PHF6p.Cys99PheVAR_017634
3PHF6p.His229ArgVAR_017635
4PHF6p.Lys234GluVAR_017636
5PHF6p.Arg257GlyVAR_017637

Expression for genes affiliated with Borjeson-Forssman-Lehmann Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Borjeson-Forssman-Lehmann Syndrome

Search GEO for disease gene expression data for Borjeson-Forssman-Lehmann Syndrome.

Pathways for genes affiliated with Borjeson-Forssman-Lehmann Syndrome

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37NCBI BioSystems Database, 51QIAGEN, 29KEGG
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Compounds for genes affiliated with Borjeson-Forssman-Lehmann Syndrome

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44Novoseek, 24HMDB
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Compounds related to Borjeson-Forssman-Lehmann Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acth449.4POU1F1, PROP1, HESX1
2gnrh449.3LHX3, HESX1, PROP1
3zinc44 249.5POU1F1, MECOM, PHF6, KLF10

GO Terms for genes affiliated with Borjeson-Forssman-Lehmann Syndrome

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16Gene Ontology
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Cellular components related to Borjeson-Forssman-Lehmann Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056346.3FGF13, LHX4, LHX3, HESX1, SOX3, PHF6

Biological processes related to Borjeson-Forssman-Lehmann Syndrome according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1pituitary gland developmentGO:02198310.0SOX3, LHX3
2medial motor column neuron differentiationGO:0215269.8LHX3, LHX4
3motor neuron axon guidanceGO:0080459.8LHX4, LHX3
4placenta developmentGO:0018909.6LHX3, LHX4
5organ morphogenesisGO:0098879.5SOX3, LHX3, LHX4
6lamellipodium assemblyGO:0300329.5ARHGEF7, ARHGEF6
7positive regulation of GTPase activityGO:0435479.5ARHGEF6, ARHGEF7
8positive regulation of transcription from RNA polymerase II promoterGO:0459448.3POU1F1, PROP1, MECOM, LHX3

Molecular functions related to Borjeson-Forssman-Lehmann Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein C-terminus bindingGO:0080229.2HESX1, PROP1, DLG3
2sequence-specific DNA bindingGO:0435659.0POU1F1, HESX1, LHX3, LHX4
3sequence-specific DNA binding transcription factor activityGO:0037007.3POU1F1, PROP1, MECOM, HESX1, LHX3, LHX4

Products for genes affiliated with Borjeson-Forssman-Lehmann Syndrome

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Sources for Borjeson-Forssman-Lehmann Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet