Borjeson-Forssman-Lehmann Syndrome malady

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

Aliases & Classifications for Borjeson-Forssman-Lehmann Syndrome

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46OMIM, 8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Aliases & Descriptions for Borjeson-Forssman-Lehmann Syndrome:

Name: Borjeson-Forssman-Lehmann Syndrome 46 8 9 42 20 10 44 48 22 61
Intellectual Deficiency - Epilepsy - Endocrine Disorders 42 48
Borjeson Syndrome 8 42
Bfls 42 48
Mental Deficiency, Epilepsy and Endocrine Disorders 42
Mental Deficiency-Epilepsy-Endocrine Disorders 42
Borj 42


Characteristics (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

External Ids:

OMIM46 301900
Disease Ontology8 DOID:0050681
MeSH33 C536575
Orphanet48 127
MESH via Orphanet34 C536575
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet62 C0265339

Summaries for Borjeson-Forssman-Lehmann Syndrome

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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 based summary: Borjeson-Forssman-Lehmann Syndrome, also known as intellectual deficiency - epilepsy - endocrine disorders, is related to hypogonadism and mental retardation, 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 Agrin Interactions at Neuromuscular Junction and Adhesion. The compounds gnrh and acth have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and bone, and related mouse phenotypes are craniofacial and endocrine/exocrine gland.

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

Related Diseases for Borjeson-Forssman-Lehmann Syndrome

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Graphical network of 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:



 48 (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 62)
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 amyotrophy 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 x-linked recessive inheritance HP:0001419
49 obesity HP:0001513
50 short toe HP:0001831
51 eeg abnormality HP:0002353
52 scoliosis HP:0002650
53 thickened calvaria HP:0002684
54 kyphosis HP:0002808
55 short stature HP:0004322
56 shortening of all middle phalanges of the fingers HP:0006110
57 shortening of all distal phalanges of the fingers HP:0006118
58 widely spaced toes HP:0008094
59 cervical spinal canal stenosis HP:0008445
60 scheuermann-like vertebral changes HP:0008478
61 hypoplasia of the prostate HP:0008687
62 intellectual disability, severe HP:0010864

Drugs & Therapeutics for Borjeson-Forssman-Lehmann Syndrome

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Drug clinical trials:

Search ClinicalTrials for Borjeson-Forssman-Lehmann Syndrome

Search NIH Clinical Center for 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 Syndrome20 22 PHF6

Anatomical Context for Borjeson-Forssman-Lehmann Syndrome

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

Eye, Testes, Bone, Breast, Prostate, 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:00053828.5HESX1, POU1F1, SOX3, LHX3
2MP:00053797.5LHX3, LHX4, SOX3, POU1F1, HESX1, PROP1
3MP:00107686.8LHX3, LHX4, SOX3, POU1F1, HESX1, PROP1
4MP:00036316.3FGF13, LHX3, LHX4, SOX3, POU1F1, HESX1

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 11)
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 variantPathogenicGRCh37Chr X, 133551278: 133551278

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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Compounds for genes affiliated with Borjeson-Forssman-Lehmann Syndrome

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

idCompoundScoreTop Affiliating Genes
1gnrh449.4PROP1, HESX1, LHX3
2acth448.7PROP1, HESX1, POU1F1

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
1nucleusGO:00056347.0FGF13, PHF6, PROP1, HESX1, POU1F1, SOX3

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1pituitary gland developmentGO:00219839.8SOX3, LHX3
2medial motor column neuron differentiationGO:00215269.6LHX4, LHX3
3motor neuron axon guidanceGO:00080459.6LHX3, LHX4
4lamellipodium assemblyGO:00300329.5ARHGEF7, ARHGEF6
5placenta developmentGO:00018909.3LHX4, LHX3
6organ morphogenesisGO:00098879.2SOX3, LHX4, LHX3
7positive regulation of GTPase activityGO:00435479.2ARHGEF6, ARHGEF7
8negative regulation of apoptotic processGO:00430669.1PROP1, LHX4, LHX3

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

idNameGO IDScoreTop Affiliating Genes
1Rho guanyl-nucleotide exchange factor activityGO:00050899.5ARHGEF6, ARHGEF7
2protein C-terminus bindingGO:00080229.2DLG3, PROP1, HESX1
3chromatin bindingGO:00036828.7POU1F1, HESX1, PROP1
4sequence-specific DNA bindingGO:00435658.3LHX3, LHX4, POU1F1, HESX1
5sequence-specific DNA binding transcription factor activityGO:00037008.0PROP1, HESX1, POU1F1, LHX4, LHX3

Sources for Borjeson-Forssman-Lehmann Syndrome

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet