BFLS
MCID: BRJ001
MIFTS: 47

Borjeson-Forssman-Lehmann Syndrome (BFLS) malady

Neuronal, Eye, Endocrine, Fetal categories

Summaries for Borjeson-Forssman-Lehmann Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 mental retardation and n syndrome, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, seizures/epilepsy/absences/spasms/status epilepticus and intellectual deficit/mental/psychomotor retardation/learning disability. 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 pituitary, 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:47 301900

Aliases & Classifications for Borjeson-Forssman-Lehmann Syndrome

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
borjeson-forssman-lehmann syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

borjeson-forssman-lehmann syndrome 8 9 43 20 22 47 10 45 49 61
borjeson syndrome 8 43
bfls 43 49
intelectual deficiency - epilepsy - endocrine disorders 49
mental deficiency, epilepsy and endocrine disorders 43
mental deficiency-epilepsy-endocrine disorders 43
borj 43


External Ids:

Disease Ontology8 DOID:0050681
MeSH35 C536575
OMIM47 301900
MESH via Orphanet36 C536575
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet58 21634003
UMLS via Orphanet62 C0265339

Related Diseases for Borjeson-Forssman-Lehmann Syndrome

Sources:
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

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

301900

Clinical synopsis from OMIM:

301900

Symptoms:

49 (show all 35)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • 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
  • hyperextensible joints/articular hyperlaxity
  • short foot/brachydactyly of toes
  • x-linked recessive inheritance
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • micropenis/small penis/agenesis
  • cleft lip and palate
  • deepset eyes/enophthalmos
  • blepharophimosis/short palpebral fissures
  • 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

Drugs & Therapeutics for Borjeson-Forssman-Lehmann Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Borjeson-Forssman-Lehmann Syndrome:

33
Pituitary

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

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Borjeson-Forssman-Lehmann Syndrome

Sources:
51PubMed
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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

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Borjeson-Forssman-Lehmann Syndrome:

63
id Symbol AA change Variation 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

Sources:
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

Sources:
38NCBI BioSystems Database, 52QIAGEN, 30KEGG
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Compounds for genes affiliated with Borjeson-Forssman-Lehmann Syndrome

Sources:
45Novoseek, 24HMDB
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Compounds related to Borjeson-Forssman-Lehmann Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acth459.4POU1F1, PROP1, HESX1
2gnrh459.3LHX3, HESX1, PROP1
3zinc45 249.5POU1F1, MECOM, PHF6, KLF10

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

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Borjeson-Forssman-Lehmann Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet