Borjeson-Forssman-Lehmann Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Endocrine diseases, Fetal diseases, Mental diseases

Aliases & Classifications for Borjeson-Forssman-Lehmann Syndrome

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50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 13DISEASES, 52Orphanet, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 68UniProtKB/Swiss-Prot, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Borjeson-Forssman-Lehmann Syndrome:

Name: Borjeson-Forssman-Lehmann Syndrome 50 11 46 23 13 52 25 12 48 37 66
Bfls 46 23 52 68
Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome 46 52
Borjeson Syndrome 11 46
Borj 46 68
Mental Deficiency, Epilepsy and Endocrine Disorders 46
Mental Deficiency-Epilepsy- Endocrine Disorders 68
Boerjeson-Forssman-Lehmann Syndrome 68
Borjeson-Forssman Syndrome 68


Orphanet epidemiological data:

borjeson-forssman-lehmann syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy


borjeson-forssman-lehmann syndrome:
Inheritance: x-linked recessive inheritance


External Ids:

OMIM50 301900
Disease Ontology11 DOID:0050681
Orphanet52 ORPHA127
SNOMED-CT60 21634003
ICD10 via Orphanet29 Q87.8
MESH via Orphanet38 C536575
UMLS via Orphanet67 C0265339
MedGen35 C0265339

Summaries for Borjeson-Forssman-Lehmann Syndrome

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NIH Rare Diseases:46 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 based summary: Borjeson-Forssman-Lehmann Syndrome, also known as bfls, is related to olecranon bursitis and dilated cardiomyopathy, and has symptoms including cryptorchidism, scrotal hypoplasia and coarse facial features. An important gene associated with Borjeson-Forssman-Lehmann Syndrome is PHF6 (PHD Finger Protein 6), and among its related pathways are BRCA1 Pathway and Chromatin Regulation / Acetylation. Affiliated tissues include eye, prostate and skeletal muscle, and related mouse phenotypes are endocrine/exocrine gland and nervous system.

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:68 Boerjeson-Forssman-Lehmann syndrome: A X-linked recessive disorder characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.

Description from OMIM:50 301900

Related Diseases for Borjeson-Forssman-Lehmann Syndrome

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Diseases related to Borjeson-Forssman-Lehmann Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
idRelated DiseaseScoreTop Affiliating Genes
1olecranon bursitis10.6LHX3, PROP1
2dilated cardiomyopathy10.4
5hereditary koilonychia10.4POU1F1, SOX3
6zollinger-ellison syndrome10.2ARHGEF6, ARHGEF7, DLG3
7albinism, oculocutaneous, type iii10.2ARID1B, SMARCA2
8tricuspid valve agenesis10.1HESX1, LHX4, POU1F1, PROP1
9plexiform schwannoma10.1SMARCB1, SMARCE1
10aortic valve atresia10.1HESX1, LHX4, POU1F1, SOX3
11central nervous system leukemia10.0ARID1B, FGF13
12primary fanconi syndrome10.0HESX1, LHX3, LHX4, POU1F1, PROP1
13bird fancier's lung10.0
14complete lcat deficiency9.9HESX1, LHX3, LHX4, POU1F1, PROP1
15squamous cell papilloma of skin9.9HESX1, LHX3, LHX4, POU1F1, SOX3
16ehlers-danlos/osteogenesis imperfecta syndrome9.8SMARCA4, SMARCB1
17skin sarcoma9.8ARID1A, BANF1
18alcohol-induced mental disorder9.8SMARCA2, SMARCA4
19boutonneuse fever9.7SMARCA2, SMARCA4
20kluver-bucy syndrome9.7SMARCA2, SMARCA4
21fallopian tube clear cell adenocarcinoma9.7HESX1, LHX3, LHX4, POU1F1, PROP1, SOX3
22diabetes insipidus9.7HESX1, LHX3, LHX4, POU1F1, PROP1, SOX3
23molybdenum cofactor deficiency b9.7HESX1, LHX3, LHX4, POU1F1, PROP1, SOX3
24pulmonary plasma cell granuloma9.5SMARCA4, SMARCB1
253p- syndrome9.4SMARCA2, SMARCA4
26brain stem glioma8.8ARID1A, ARID1B, SMARCA4, SMARCB1
27alopecia, neurologic defects, and endocrinopathy syndrome7.4ARID1A, ARID1B, BANF1, PHF6, SMARCA2, SMARCA4
28mental retardation, x-linked syndromic, christianson type4.4ARHGEF6, ARHGEF7, ARID1A, ARID1B, BANF1, DLG3

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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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 52 (show all 34)
  • cryptorchidism
  • scrotal hypoplasia
  • hypogonadism
  • oral cleft
  • microcephaly
  • macrocephaly
  • coarse facial features
  • prominent supraorbital ridges
  • hearing impairment
  • deeply set eye
  • ptosis
  • cataract
  • thick eyebrow
  • blepharophimosis
  • nystagmus
  • gynecomastia
  • tapered finger
  • intellectual disability
  • seizures
  • muscular hypotonia
  • broad foot
  • short toe
  • camptodactyly of toe
  • truncal obesity
  • skeletal muscle atrophy
  • abnormality of the hip bone
  • short stature
  • joint hyperflexibility
  • sparse hair
  • decreased testicular size
  • hypoplasia of penis
  • feeding difficulties in infancy
  • large earlobe
  • peripheral neuropathy

HPO human phenotypes related to Borjeson-Forssman-Lehmann Syndrome:

(show all 61)
id Description Frequency HPO Source Accession
1 cryptorchidism hallmark (90%) HP:0000028
2 scrotal hypoplasia hallmark (90%) HP:0000046
3 coarse facial features hallmark (90%) HP:0000280
4 gynecomastia hallmark (90%) HP:0000771
5 tapered finger hallmark (90%) HP:0001182
6 muscular hypotonia hallmark (90%) HP:0001252
7 broad foot hallmark (90%) HP:0001769
8 short toe hallmark (90%) HP:0001831
9 camptodactyly of toe hallmark (90%) HP:0001836
10 truncal obesity hallmark (90%) HP:0001956
11 hypoplasia of penis hallmark (90%) HP:0008736
12 large earlobe hallmark (90%) HP:0009748
13 abnormal hair quantity hallmark (90%) HP:0011362
14 cognitive impairment hallmark (90%) HP:0100543
15 prominent supraorbital ridges typical (50%) HP:0000336
16 deeply set eye typical (50%) HP:0000490
17 ptosis typical (50%) HP:0000508
18 thick eyebrow typical (50%) HP:0000574
19 blepharophimosis typical (50%) HP:0000581
20 oral cleft occasional (7.5%) HP:0000202
21 microcephaly occasional (7.5%) HP:0000252
22 macrocephaly occasional (7.5%) HP:0000256
23 hearing impairment occasional (7.5%) HP:0000365
24 cataract occasional (7.5%) HP:0000518
25 nystagmus occasional (7.5%) HP:0000639
26 seizures occasional (7.5%) HP:0001250
27 joint hypermobility occasional (7.5%) HP:0001382
28 skeletal muscle atrophy occasional (7.5%) HP:0003202
29 abnormality of the hip bone occasional (7.5%) HP:0003272
30 short stature occasional (7.5%) HP:0004322
31 peripheral neuropathy occasional (7.5%) HP:0009830
32 cryptorchidism HP:0000028
33 micropenis HP:0000054
34 microcephaly HP:0000252
35 coarse facial features HP:0000280
36 prominent supraorbital ridges HP:0000336
37 macrotia HP:0000400
38 deeply set eye HP:0000490
39 visual impairment HP:0000505
40 ptosis HP:0000508
41 blepharophimosis HP:0000581
42 nystagmus HP:0000639
43 gynecomastia HP:0000771
44 delayed puberty HP:0000823
45 tapered finger HP:0001182
46 seizures HP:0001250
47 muscular hypotonia HP:0001252
48 obesity HP:0001513
49 short toe HP:0001831
50 eeg abnormality HP:0002353
51 scoliosis HP:0002650
52 thickened calvaria HP:0002684
53 kyphosis HP:0002808
54 short stature HP:0004322
55 shortening of all middle phalanges of the fingers HP:0006110
56 shortening of all distal phalanges of the fingers HP:0006118
57 widely spaced toes HP:0008094
58 cervical spinal canal stenosis HP:0008445
59 scheuermann-like vertebral changes HP:0008478
60 hypoplasia of the prostate HP:0008687
61 intellectual disability, severe HP:0010864

UMLS symptoms related to Borjeson-Forssman-Lehmann Syndrome:

seizures, observation of narrowing of palpebral fissure

Drugs & Therapeutics for Borjeson-Forssman-Lehmann Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Borjeson-Forssman-Lehmann Syndrome

Cochrane evidence based reviews: borjeson-forssman-lehmann syndrome

Genetic Tests for Borjeson-Forssman-Lehmann Syndrome

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Genetic tests related to Borjeson-Forssman-Lehmann Syndrome:

id Genetic test Affiliating Genes
1 Borjeson-Forssman-Lehmann Syndrome25 23 PHF6

Anatomical Context for Borjeson-Forssman-Lehmann Syndrome

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

Eye, Prostate, Skeletal muscle, Bone, Pituitary

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

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

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053797.4ARID1A, HESX1, LHX3, LHX4, POU1F1, PROP1
2MP:00036316.1ARHGEF6, ARID1A, DLG3, FGF13, HESX1, LHX3
3MP:00107685.2ARHGEF7, ARID1A, DLG3, FGF13, HESX1, LHX3

Publications for Borjeson-Forssman-Lehmann Syndrome

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Articles related to Borjeson-Forssman-Lehmann Syndrome:

(show all 13)
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. (24092917)
PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females. (22190899)
Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. (15994862)
Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6. (15580208)
Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency. (14714754)
Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene. (14714741)
Borjeson-Forssman-Lehmann syndrome and dilated cardiomyopathy: a previously unreported association. (11173318)
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)
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)
Borjeson-Forssman-Lehmann syndrome: two severely handicapped females in a family. (9213062)
The Borjeson-Forssman-Lehmann syndrome. A family study. (3720009)
Borjeson-Forssman-Lehmann syndrome in a girl. (6439922)
Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome. (564968)

Variations for Borjeson-Forssman-Lehmann Syndrome

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

id Symbol AA change Variation ID SNP ID

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

5 (show all 12)
id Gene Variation 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 variantPathogenicrs587777489GRCh37Chr X, 133551278: 133551278
12PHF6NM_001015877.1(PHF6): c.418G> A (p.Ala140Thr)single nucleotide variantPathogenicrs864309532GRCh37Chr X, 133527982: 133527982

Expression for genes affiliated with Borjeson-Forssman-Lehmann Syndrome

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

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Cellular components related to Borjeson-Forssman-Lehmann Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1BAF-type complexGO:00905449.2ARID1A, ARID1B, SMARCB1, SMARCE1
2npBAF complexGO:00715648.4ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCE1
3nuclear chromatinGO:00007908.2ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCE1
6nucleoplasmGO:00056546.0ARID1A, ARID1B, BANF1, PHF6, POU1F1, SMARCA2
7nucleusGO:00056345.2ARID1A, BANF1, ENSG00000283147, FGF13, HESX1, LHX3

Biological processes related to Borjeson-Forssman-Lehmann Syndrome according to GeneCards Suite gene sharing:

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1medial motor column neuron differentiationGO:002152610.8LHX3, LHX4
2somatotropin secreting cell differentiationGO:006012610.7POU1F1, PROP1
3motor neuron axon guidanceGO:000804510.7LHX3, LHX4
4nuclear transportGO:005116910.5BANF1, POU1F1
5microtubule polymerizationGO:004678510.4ENSG00000283147, FGF13
6negative regulation of microtubule depolymerizationGO:000702610.4ENSG00000283147, FGF13
7pituitary gland developmentGO:002198310.3LHX3, POU1F1, SOX3
8negative regulation of collateral sproutingGO:004867110.3ENSG00000283147, FGF13
9animal organ morphogenesisGO:000988710.3LHX3, LHX4, PROP1
10cerebral cortex cell migrationGO:002179510.3ENSG00000283147, FGF13
11adenohypophysis developmentGO:002198410.2POU1F1, PROP1
12chromatin-mediated maintenance of transcriptionGO:004809610.2ARID1A, ARID1B
13establishment of neuroblast polarityGO:004520010.1ENSG00000283147, FGF13
14DNA integrationGO:00150749.9BANF1, SMARCB1
15positive regulation of glucose mediated signaling pathwayGO:19026619.8SMARCA4, SMARCB1
16positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoterGO:19018389.8SMARCA4, SMARCB1
17positive regulation by host of viral transcriptionGO:00439239.7SMARCA4, SMARCB1
18nucleosome disassemblyGO:00063378.9ARID1A, SMARCA4, SMARCB1, SMARCE1
19positive regulation of transcription, DNA-templatedGO:00458938.8ARID1A, LHX3, POU1F1, SMARCA2, SMARCA4
20ATP-dependent chromatin remodelingGO:00430448.8ARID1A, SMARCA4, SMARCB1, SMARCE1
21covalent chromatin modificationGO:00165698.2ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1
22chromatin remodelingGO:00063388.2ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCE1
23regulation of transcription from RNA polymerase II promoterGO:00063578.2ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCE1
24negative regulation of transcription from RNA polymerase II promoterGO:00001228.2ARID1A, POU1F1, PROP1, SMARCA2, SMARCA4, SOX3
25positive regulation of transcription from RNA polymerase II promoterGO:00459447.9LHX3, POU1F1, PROP1, SMARCA2, SMARCA4, SMARCB1
26nervous system developmentGO:00073996.7ARHGEF7, ARID1B, DLG3, ENSG00000283147, FGF13, SMARCA2
27transcription, DNA-templatedGO:00063516.5ARID1A, ARID1B, HESX1, LHX3, LHX4, PHF6

Molecular functions related to Borjeson-Forssman-Lehmann Syndrome according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1ligand-dependent nuclear receptor bindingGO:001692210.4ARID1A, SMARCE1
2protein N-terminus bindingGO:00474859.8HESX1, SMARCA4, SMARCE1
3RNA polymerase II transcription coactivator activityGO:00011059.8POU1F1, SMARCA2, SMARCA4
4RNA polymerase I CORE element sequence-specific DNA bindingGO:00011649.8SMARCA4, SMARCB1
5Tat protein bindingGO:00309579.6SMARCA4, SMARCB1
6nucleosomal DNA bindingGO:00314929.4SMARCA4, SMARCB1, SMARCE1
7chromatin bindingGO:00036829.2HESX1, POU1F1, PROP1, SMARCA2, SMARCE1
8RNA polymerase II distal enhancer sequence-specific DNA bindingGO:00009809.1PROP1, SMARCA4, SMARCB1, SMARCE1
9transcription coactivator activityGO:00037138.0ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1
10DNA bindingGO:00036777.4ARID1A, ARID1B, BANF1, HESX1, PHF6, POU1F1
11protein bindingGO:00055153.8ARHGEF6, ARHGEF7, ARID1A, ARID1B, BANF1, DLG3

Sources for Borjeson-Forssman-Lehmann Syndrome

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29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet