BFLS
MCID: BRJ001
MIFTS: 56

Borjeson-Forssman-Lehmann Syndrome (BFLS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Endocrine diseases, Fetal diseases, Mental diseases categories

Summaries for Borjeson-Forssman-Lehmann Syndrome

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9Disease Ontology, 44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 mental retardation, 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 Agrin Interactions at Neuromuscular Junction and Adhesion. The compounds gnrh and acth have been mentioned in the context of this disorder. Affiliated tissues include testes, eye and breast, and related mouse phenotypes are craniofacial and endocrine/exocrine gland.

Disease Ontology:9 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:48 301900

Aliases & Classifications for Borjeson-Forssman-Lehmann Syndrome

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
borjeson-forssman-lehmann syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

borjeson-forssman-lehmann syndrome 9 10 44 21 23 48 11 46 50 63
borjeson syndrome 9 44
bfls 44 50
intellectual deficiency - epilepsy - endocrine disorders 50
mental deficiency, epilepsy and endocrine disorders 44
mental deficiency-epilepsy-endocrine disorders 44
borj 44


External Ids:

Disease Ontology9 DOID:0050681
MeSH36 C536575
OMIM48 301900
MESH via Orphanet37 C536575
ICD10 via Orphanet27 Q87.8
SNOMED-CT via Orphanet60 21634003
UMLS via Orphanet64 C0265339

Related Diseases for Borjeson-Forssman-Lehmann Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Borjeson-Forssman-Lehmann Syndrome:



Diseases related to borjeson-forssman-lehmann syndrome

Symptoms for Borjeson-Forssman-Lehmann Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

301900

Clinical features from OMIM:

301900

Symptoms:

50 (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
  • hypoplastic scrotum/hemiscrotum/scrotal ridges
  • truncal obesity
  • 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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Borjeson-Forssman-Lehmann Syndrome:

id Genetic test Affiliating Genes
1 Borjeson-Forssman-Lehmann Syndrome21 23 PHF6

Anatomical Context for Borjeson-Forssman-Lehmann Syndrome

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

34
Testes, Eye, Breast, Pituitary

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

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.5SOX3, POU1F1, LHX3, HESX1
2MP:00053797.5LHX3, LHX4, SOX3, POU1F1, HESX1, PROP1
3MP:00107686.8LHX4, PROP1, HESX1, DLG3, LHX3, POU1F1
4MP:00036316.3LHX3, ARHGEF6, FGF13, DLG3, PROP1, HESX1

Publications for Borjeson-Forssman-Lehmann Syndrome

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53PubMed
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Articles related to Borjeson-Forssman-Lehmann Syndrome:

(show all 13)
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
The Borjeson-Forssman-Lehmann syndrome. A family study. (3720009)
1986
12
Borjeson-Forssman-Lehmann syndrome in a girl. (6439922)
1984
13
Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome. (564968)
1978

Variations for Borjeson-Forssman-Lehmann Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Borjeson-Forssman-Lehmann Syndrome:

65
id Symbol AA change Variation ID SNP ID
1PHF6p.Cys45TyrVAR_017633rs28935179
2PHF6p.Cys99PheVAR_017634
3PHF6p.His229ArgVAR_017635
4PHF6p.Lys234GluVAR_017636
5PHF6p.Arg257GlyVAR_017637

Clinvar genetic disease variations for Borjeson-Forssman-Lehmann Syndrome:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1PHF6NM_001015877.1(PHF6): c.1024C> T (p.Arg342Ter)single nucleotide variantPathogenicrs132630297GRCh37Chr X, 133559286: 133559286
2PHF6NM_001015877.1(PHF6): c.296G> T (p.Cys99Phe)single nucleotide variantPathogenicrs132630298GRCh37Chr X, 133527586: 133527586
3PHF6NM_001015877.1(PHF6): c.700A> G (p.Lys234Glu)single nucleotide variantPathogenicrs104894917GRCh37Chr X, 133547967: 133547967
4PHF6NM_001015877.1(PHF6): c.134G> A (p.Cys45Tyr)single nucleotide variantPathogenicrs132630299GRCh37Chr X, 133511781: 133511781
5PHF6NM_001015877.1(PHF6): c.686A> G (p.His229Arg)single nucleotide variantPathogenicrs104894918GRCh37Chr X, 133547953: 133547953
6PHF6NM_001015877.1(PHF6): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs132630300GRCh37Chr X, 133511649: 133511649
7PHF6NM_001015877.1(PHF6): c.769A> G (p.Arg257Gly)single nucleotide variantPathogenicrs104894919GRCh37Chr X, 133549085: 133549085
8PHF6NM_001015877.1(PHF6): c.22A> T (p.Lys8Ter)single nucleotide variantPathogenicrs132630301GRCh37Chr X, 133511669: 133511669
9PHF6PHF6, IVS2AS, A-G, -8single nucleotide variantPathogenic
10PHF6PHF6, 1-BP INS, 27AinsertionPathogenic
11PHF6NM_001015877.1(PHF6): c.914G> T (p.Cys305Phe)single nucleotide variantPathogenicGRCh37Chr X, 133551278: 133551278

Expression for genes affiliated with Borjeson-Forssman-Lehmann Syndrome

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2BioGPS, 16Gene 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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51PathCards, 54QIAGEN, 5Cell Signaling Technology, 39NCBI BioSystems Database, 31KEGG
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Compounds for genes affiliated with Borjeson-Forssman-Lehmann Syndrome

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46Novoseek
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Compounds related to Borjeson-Forssman-Lehmann Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gnrh469.4PROP1, HESX1, LHX3
2acth468.7PROP1, HESX1, POU1F1

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

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17Gene Ontology
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Cellular components related to Borjeson-Forssman-Lehmann Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056347.0FGF13, PHF6, PROP1, HESX1, POU1F1, SOX3

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1pituitary gland developmentGO:0219839.8SOX3, LHX3
2medial motor column neuron differentiationGO:0215269.6LHX4, LHX3
3motor neuron axon guidanceGO:0080459.6LHX3, LHX4
4lamellipodium assemblyGO:0300329.5ARHGEF7, ARHGEF6
5placenta developmentGO:0018909.3LHX4, LHX3
6organ morphogenesisGO:0098879.2SOX3, LHX4, LHX3
7positive regulation of GTPase activityGO:0435479.2ARHGEF6, ARHGEF7
8negative regulation of apoptotic processGO:0430669.1PROP1, LHX4, LHX3

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

idNameGO IDScoreTop Affiliating Genes
1Rho guanyl-nucleotide exchange factor activityGO:0050899.5ARHGEF6, ARHGEF7
2protein C-terminus bindingGO:0080229.2DLG3, PROP1, HESX1
3chromatin bindingGO:0036828.7POU1F1, HESX1, PROP1
4sequence-specific DNA bindingGO:0435658.3LHX3, LHX4, POU1F1, HESX1
5sequence-specific DNA binding transcription factor activityGO:0037008.0PROP1, HESX1, POU1F1, LHX4, LHX3

Products for genes affiliated with Borjeson-Forssman-Lehmann Syndrome

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Sources for Borjeson-Forssman-Lehmann Syndrome

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4CDC
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26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
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36MeSH
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45NINDS
46Novoseek
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49OMIM via Orphanet
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60SNOMED-CT via Orphanet
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