MCID: BRJ001
MIFTS: 53

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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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Borjeson-Forssman-Lehmann Syndrome:

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


Classifications:



Characteristics (Orphanet epidemiological data):

51
borjeson-forssman-lehmann syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy


External Ids:

OMIM49 301900
Disease Ontology10 DOID:0050681
Orphanet51 127
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C536575
UMLS via Orphanet66 C0265339
MedGen34 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 dilated cardiomyopathy and hypogonadism, 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, testes and prostate, and related mouse phenotypes are nervous system and mortality/aging.

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 32)
idRelated DiseaseScoreTop Affiliating Genes
1dilated cardiomyopathy10.6
2hypogonadism10.6
3cardiomyopathy10.6
4isolated levocardia10.2POU1F1, SOX3
5appendiceal neoplasm10.2LHX3, PROP1
6osteochondrodysplatic nanism - deafness - retinitis pigmentosa10.1ARID1B, SMARCA2
7bird fancier's lung10.1
8nphp3-related meckel-like syndrome10.1SMARCB1, SMARCE1
9aortic valve atresia10.1HESX1, LHX4, POU1F1, PROP1
10septooptic dysplasia10.1HESX1, LHX3, POU1F1, PROP1
11acute myeloid leukemia, flt3-related10.1HESX1, LHX3, POU1F1, PROP1
12phaeochromocytoma10.1ARHGEF6, ARHGEF7, DLG3
13mesocardia10.1HESX1, LHX4, POU1F1, SOX3
14hypothryoidism, congenital, nongoitrous 410.0POU1F1, PROP1
15sporotrichosis10.0SMARCA2, SMARCA4
16tooth resorption10.0SMARCA2, SMARCA4
17beckwith-wiedemann syndrome due to imprinting defect of 11p1510.0SMARCA4, SMARCB1
18adenoma10.0ARID1A, BANF1
19inherited predisposition to essential thrombocythemia10.0HESX1, LHX3, LHX4, POU1F1, PROP1
20complete lcat deficiency10.0HESX1, LHX3, LHX4, POU1F1, PROP1
21pituitary infarct10.0HESX1, LHX3, LHX4, POU1F1, PROP1
22peroneal nerve paralysis10.0SMARCA2, SMARCA4
23telangiectatic glomangioma10.0HESX1, LHX3, LHX4, POU1F1, SOX3
24tumor predisposition syndrome10.0SMARCA4, SMARCB1
25disseminated intravascular coagulation9.9ARHGEF6, ARID1B, DLG3, SMARCA2
26childhood leukemia9.9SMARCA4, SMARCB1
27pituitary hormone deficiency, combined, 29.9HESX1, LHX3, LHX4, POU1F1, PROP1, SOX3
28hypopyon9.9HESX1, LHX3, LHX4, POU1F1, PROP1, SOX3
29rhabdoid meningioma9.8SMARCA4, SMARCB1
30speech disorder9.8ARHGEF6, DLG3, SMARCA2, SMARCA4
31coffin-siris syndrome9.1ARID1A, ARID1B, BANF1, PHF6, SMARCA2, SMARCA4
32pituitary adenoma, growth hormone-secreting 27.7ARHGEF6, 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:

301900

Clinical features from OMIM:

301900

Symptoms:

 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 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 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 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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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 24 PHF6

Anatomical Context for Borjeson-Forssman-Lehmann Syndrome

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

33
Eye, Testes, Prostate, Breast, 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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036315.8ARHGEF6, ARID1A, DLG3, FGF13, HESX1, LHX3
2MP:00107685.4ARID1A, DLG3, HESX1, LHX3, LHX4, MECOM

Publications for Borjeson-Forssman-Lehmann Syndrome

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

67
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:

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 variantPathogenicrs587777489GRCh37Chr 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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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
1growth coneGO:003042610.3ARHGEF7, DLG3, FGF13
2BAF-type complexGO:00905448.9ARID1A, ARID1B, SMARCA2, SMARCB1, SMARCE1
3npBAF complexGO:00715648.8ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCE1
4nuclear chromatinGO:00007908.5ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCE1
5SWI/SNF complexGO:00165148.4ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1
6nBAF complexGO:00715658.1ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1
7nucleoplasmGO:00056545.6ARID1A, ARID1B, BANF1, MECOM, PHF6, POU1F1
8nucleusGO:00056344.8ARID1A, ARID1B, BANF1, FGF13, HESX1, LHX3

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1somatotropin secreting cell differentiationGO:006012610.8POU1F1, PROP1
2adenohypophysis developmentGO:002198410.7POU1F1, PROP1
3chromatin-mediated maintenance of transcriptionGO:004809610.2ARID1A, ARID1B
4DNA integrationGO:001507410.2BANF1, SMARCB1
5positive regulation by host of viral transcriptionGO:00439239.9SMARCA4, SMARCB1
6organ morphogenesisGO:00098879.8LHX3, LHX4, PROP1, SOX3
7forebrain developmentGO:00309009.2ARID1A, MECOM, SOX3
8nucleosome disassemblyGO:00063379.2ARID1A, SMARCA4, SMARCB1, SMARCE1
9ATP-dependent chromatin remodelingGO:00430449.0ARID1A, SMARCA4, SMARCB1, SMARCE1
10chromatin remodelingGO:00063388.2ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1
11negative regulation of transcription, DNA-templatedGO:00458928.2HESX1, MECOM, SMARCA2, SMARCA4, SMARCE1
12regulation of transcription from RNA polymerase II promoterGO:00063578.1ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCE1
13negative regulation of transcription from RNA polymerase II promoterGO:00001228.0ARID1A, POU1F1, PROP1, SMARCA2, SMARCA4, SOX3
14positive regulation of transcription, DNA-templatedGO:00458938.0ARID1A, LHX3, MECOM, POU1F1, SMARCA2, SMARCA4
15nervous system developmentGO:00073997.9ARID1B, DLG3, FGF13, SMARCA2, SMARCA4, SMARCB1
16chromatin organizationGO:00063257.8ARID1A, MECOM, SMARCA2, SMARCA4, SMARCB1
17positive regulation of transcription from RNA polymerase II promoterGO:00459447.6MECOM, POU1F1, PROP1, SMARCA2, SMARCA4, SMARCB1
18regulation of transcription, DNA-templatedGO:00063556.8HESX1, LHX3, LHX4, MECOM, PHF6, POU1F1
19transcription, DNA-templatedGO:00063515.9ARID1A, ARID1B, HESX1, LHX3, LHX4, MECOM

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1ligand-dependent nuclear receptor bindingGO:001692210.3ARID1A, SMARCE1
2Tat protein bindingGO:003095710.0SMARCA4, SMARCB1
3RNA polymerase II transcription coactivator activityGO:00011059.8POU1F1, SMARCA2, SMARCA4
4protein N-terminus bindingGO:00474859.8HESX1, SMARCA4, SMARCE1
5hydrolase activity, acting on acid anhydridesGO:00168179.7SMARCA2, SMARCA4
6histone bindingGO:00423939.5PHF6, SMARCA2, SMARCA4
7nucleosomal DNA bindingGO:00314929.5SMARCA4, SMARCB1, SMARCE1
8RNA polymerase II distal enhancer sequence-specific DNA bindingGO:00009809.3PROP1, SMARCA4, SMARCB1, SMARCE1
9sequence-specific DNA bindingGO:00435659.2HESX1, LHX3, LHX4, POU1F1, PROP1
10RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.2POU1F1, SMARCA4, SMARCB1, SMARCE1
11transcription coactivator activityGO:00037138.1ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1
12chromatin bindingGO:00036828.1HESX1, POU1F1, PROP1, SMARCA2, SMARCA4, SMARCE1
13DNA bindingGO:00036776.0ARID1A, ARID1B, BANF1, HESX1, LHX3, LHX4

Sources for Borjeson-Forssman-Lehmann Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet