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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49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
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Aliases & Descriptions for Borjeson-Forssman-Lehmann Syndrome:

Name: Borjeson-Forssman-Lehmann Syndrome 49 10 11 45 22 47 12 51 36 24 65
Bfls 45 22 51 67
Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome 45 51
Borjeson Syndrome 10 45
Borj 45 67
Mental Deficiency, Epilepsy and Endocrine Disorders 45
Mental Deficiency-Epilepsy- Endocrine Disorders 67
Boerjeson-Forssman-Lehmann Syndrome 67
Borjeson-Forssman Syndrome 67


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:

OMIM49 301900
Disease Ontology10 DOID:0050681
Orphanet51 127
SNOMED-CT59 21634003
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C536575
UMLS via Orphanet66 C0265339
MedGen34 C0265339
UMLS65 C0265339

Summaries for Borjeson-Forssman-Lehmann Syndrome

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NIH Rare Diseases:45 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 posterior uveitis and dilated cardiomyopathy, and has symptoms including cognitive impairment, abnormal hair quantity and large earlobe. An important gene associated with Borjeson-Forssman-Lehmann Syndrome is PHF6 (PHD Finger Protein 6), and among its related pathways are BRCA1 Pathway and AMPK Enzyme Complex Pathway. Affiliated tissues include eye, testes and bone, and related mouse phenotypes are craniofacial and growth/size/body region.

Disease Ontology:10 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:67 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:49 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 31)
idRelated DiseaseScoreTop Affiliating Genes
1posterior uveitis10.5LHX3, PROP1
2dilated cardiomyopathy10.4
5mesocardia10.3HESX1, LHX4, SOX3
6osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome10.3ARID1B, SMARCA2
7opitz-gbbb syndrome10.3ARHGEF6, ARHGEF7, DLG3
8aortic valve atresia10.3HESX1, LHX4, POU1F1, PROP1
9nphp3-related meckel-like syndrome10.3SMARCB1, SMARCE1
10poland syndrome10.2ARID1B, FGF13
11septooptic dysplasia10.2HESX1, LHX3, POU1F1, PROP1
12acute myeloid leukemia, flt3-related10.2HESX1, LHX3, POU1F1, PROP1
13isolated levocardia10.2HESX1, LHX4, POU1F1, SOX3
14staphyloenterotoxemia10.1PHF6, SMARCB1
15hypothryoidism, congenital, nongoitrous 410.1POU1F1, PROP1
16eyelid disease10.1HESX1, LHX3, PROP1, SOX3
17inherited predisposition to essential thrombocythemia10.0HESX1, LHX3, LHX4, POU1F1, PROP1
18tooth erosion10.0SMARCA2, SMARCA4
19complement component 8 deficiency10.0HESX1, LHX3, LHX4, POU1F1, PROP1
20renal artery atheroma10.0SMARCA2, SMARCA4
21beckwith-wiedemann syndrome due to imprinting defect of 11p1510.0SMARCA4, SMARCB1
22takayasu's arteritis10.0SMARCA2, SMARCA4
23bird fancier's lung10.0
24ossifying fibromyxoid tumor9.9ARID1A, BANF1
25female urethral cancer9.9HESX1, LHX3, LHX4, POU1F1, SOX3
26tumor predisposition syndrome9.9SMARCA4, SMARCB1
27rectum kaposi's sarcoma9.8SMARCA4, SMARCB1
28molybdenum cofactor deficiency b9.8HESX1, LHX3, LHX4, POU1F1, PROP1, SOX3
29strictly posterior acute myocardial infarction9.7HESX1, LHX3, LHX4, POU1F1, PROP1, SOX3
30alopecia, neurologic defects, and endocrinopathy syndrome7.9ARID1A, ARID1B, BANF1, PHF6, SMARCA2, SMARCA4
31pituitary adenoma, growth hormone-secreting 24.5ARHGEF6, 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:



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

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

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

UMLS symptoms related to Borjeson-Forssman-Lehmann Syndrome:

observation of narrowing of palpebral fissure, seizures

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 Syndrome22 PHF6

Anatomical Context for Borjeson-Forssman-Lehmann Syndrome

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

Eye, Testes, Bone, Skeletal muscle, Breast, Myeloid, Prostate

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:00053827.9HESX1, LHX3, MECOM, POU1F1, SMARCA4, SOX3
2MP:00053786.0ARID1A, DLG3, HESX1, LHX3, MECOM, POU1F1
3MP:00036315.9ARHGEF6, ARID1A, DLG3, FGF13, HESX1, LHX3
4MP:00107684.7ARHGEF7, 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
1protein complexGO:00432349.0SMARCA4, SMARCB1, SMARCE1

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1adenohypophysis developmentGO:002198410.7POU1F1, PROP1
2motor neuron axon guidanceGO:000804510.5LHX3, LHX4
3pituitary gland developmentGO:002198310.4LHX3, SOX3
4chromatin-mediated maintenance of transcriptionGO:004809610.1ARID1A, ARID1B
5lamellipodium assemblyGO:003003210.1ARHGEF6, ARHGEF7
6positive regulation of glucose mediated signaling pathwayGO:190266110.0SMARCA4, SMARCB1
7positive regulation by host of viral transcriptionGO:004392310.0SMARCA4, SMARCB1
8positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoterGO:19018389.8SMARCA4, SMARCB1
9ATP-dependent chromatin remodelingGO:00430449.4ARID1A, SMARCA4, SMARCB1
10transcription, DNA-templatedGO:00063518.0ARID1A, LHX3, LHX4, SMARCA4, SMARCB1, SOX3
11positive regulation of transcription, DNA-templatedGO:00458937.9ARID1A, LHX3, MECOM, POU1F1, SMARCA2, SMARCA4

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

idNameGO IDScoreTop Affiliating Genes
1nucleosomal DNA bindingGO:00314929.8SMARCB1, SMARCE1
2RNA polymerase II distal enhancer sequence-specific DNA bindingGO:00009809.7SMARCA4, SMARCE1
3hydrolase activity, acting on acid anhydridesGO:00168179.4SMARCA2, SMARCA4
4p53 bindingGO:00020399.0SMARCA4, SMARCB1

Sources for Borjeson-Forssman-Lehmann Syndrome

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28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet