MCID: BRJ001
MIFTS: 52

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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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Borjeson-Forssman-Lehmann Syndrome:

Name: Borjeson-Forssman-Lehmann Syndrome 51 11 47 24 53 26 12 49 38 13 67
Bfls 11 47 24 53 69
Borj 11 47 69
Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome 47 53
Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome 11 47
Borjeson Syndrome 11 47
Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type 11
 
Mental Retardation, Epilepsy, and Endocrine Disorder 11
Mental Deficiency, Epilepsy and Endocrine Disorders 47
Mental Deficiency-Epilepsy- Endocrine Disorders 69
Boerjeson-Forssman-Lehmann Syndrome 69
Borjeson-Forssman Syndrome 69
Mrxsbfl 11

Characteristics:

Orphanet epidemiological data:

53
borjeson-forssman-lehmann syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

63
borjeson-forssman-lehmann syndrome:
Inheritance: x-linked recessive inheritance

Classifications:



External Ids:

OMIM51 301900
Disease Ontology11 DOID:0050681
ICD1029 Q87.8
Orphanet53 ORPHA127
SNOMED-CT61 21634003
ICD10 via Orphanet30 Q87.8
MESH via Orphanet39 C536575
UMLS via Orphanet68 C0265339
MedGen36 C0265339

Summaries for Borjeson-Forssman-Lehmann Syndrome

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NIH Rare Diseases:47 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 hereditary koilonychia, 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 craniofacial and endocrine/exocrine gland.

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:69 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:51 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 bursitis10.5LHX3, PROP1
2hereditary koilonychia10.4POU1F1, SOX3
3dilated cardiomyopathy10.3
4hypogonadism10.3
5cardiomyopathy10.3
6albinism, oculocutaneous, type iii10.3ARID1B, SMARCA2
7mental retardation, x-linked syndromic 510.2FLNA, SOX3
8tricuspid valve agenesis10.2HESX1, LHX4, POU1F1, PROP1
9zollinger-ellison syndrome10.1ARHGEF6, ARHGEF7, DLG3
10aortic valve atresia10.1HESX1, LHX4, POU1F1, SOX3
11alcohol-induced mental disorder10.0SMARCA2, SMARCA4
12primary fanconi syndrome10.0HESX1, LHX3, LHX4, POU1F1, PROP1
13central nervous system leukemia10.0ARID1B, FGF13
14boutonneuse fever10.0SMARCA2, SMARCA4
15kluver-bucy syndrome9.9SMARCA2, SMARCA4
16skin sarcoma9.9ARID1A, BANF1
17squamous cell papilloma of skin9.9HESX1, LHX3, LHX4, POU1F1, SOX3
18plexiform schwannoma9.9SMARCB1, SMARCE1
19bird fancier's lung9.8
20fallopian tube clear cell adenocarcinoma9.7HESX1, LHX3, LHX4, POU1F1, PROP1, SOX3
21diabetes insipidus9.7HESX1, LHX3, LHX4, POU1F1, PROP1, SOX3
22molybdenum cofactor deficiency b9.7HESX1, LHX3, LHX4, POU1F1, PROP1, SOX3
23ehlers-danlos/osteogenesis imperfecta syndrome9.7SMARCA4, SMARCB1
243p- syndrome9.7SMARCA2, SMARCA4
25pulmonary plasma cell granuloma9.5SMARCA4, SMARCB1
26brain stem glioma9.0ARID1A, ARID1B, SMARCA4, SMARCB1
27alopecia, neurologic defects, and endocrinopathy syndrome7.8ARID1A, ARID1B, BANF1, PHF6, SMARCA2, SMARCA4
28mental retardation, x-linked syndromic, christianson type5.4ARHGEF6, 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:

301900

Clinical features from OMIM:

301900

Human phenotypes related to Borjeson-Forssman-Lehmann Syndrome:

 63 53 (show all 53)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism63 53 hallmark (90%) Very frequent (99-80%) HP:0000028
2 scrotal hypoplasia63 53 hallmark (90%) Very frequent (99-80%) HP:0000046
3 coarse facial features63 53 hallmark (90%) Very frequent (99-80%) HP:0000280
4 gynecomastia63 53 hallmark (90%) Very frequent (99-80%) HP:0000771
5 tapered finger63 53 hallmark (90%) Very frequent (99-80%) HP:0001182
6 muscular hypotonia63 53 hallmark (90%) Very frequent (99-80%) HP:0001252
7 broad foot63 53 hallmark (90%) Very frequent (99-80%) HP:0001769
8 short toe63 53 hallmark (90%) Very frequent (99-80%) HP:0001831
9 camptodactyly of toe63 53 hallmark (90%) Very frequent (99-80%) HP:0001836
10 truncal obesity63 53 hallmark (90%) Very frequent (99-80%) HP:0001956
11 hypoplasia of penis63 53 hallmark (90%) Very frequent (99-80%) HP:0008736
12 large earlobe63 53 hallmark (90%) Very frequent (99-80%) HP:0009748
13 abnormal hair quantity63 hallmark (90%) HP:0011362
14 cognitive impairment63 hallmark (90%) HP:0100543
15 prominent supraorbital ridges63 53 typical (50%) Frequent (79-30%) HP:0000336
16 deeply set eye63 53 typical (50%) Frequent (79-30%) HP:0000490
17 ptosis63 53 typical (50%) Frequent (79-30%) HP:0000508
18 thick eyebrow63 53 typical (50%) Frequent (79-30%) HP:0000574
19 blepharophimosis63 53 typical (50%) Frequent (79-30%) HP:0000581
20 oral cleft63 53 occasional (7.5%) Occasional (29-5%) HP:0000202
21 microcephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0000252
22 macrocephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0000256
23 hearing impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000365
24 cataract63 53 occasional (7.5%) Occasional (29-5%) HP:0000518
25 nystagmus63 53 occasional (7.5%) Occasional (29-5%) HP:0000639
26 seizures63 53 occasional (7.5%) Occasional (29-5%) HP:0001250
27 joint hypermobility63 occasional (7.5%) HP:0001382
28 skeletal muscle atrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0003202
29 abnormality of the hip bone63 53 occasional (7.5%) Occasional (29-5%) HP:0003272
30 short stature63 53 occasional (7.5%) Occasional (29-5%) HP:0004322
31 peripheral neuropathy63 53 occasional (7.5%) Occasional (29-5%) HP:0009830
32 micropenis63 HP:0000054
33 macrotia63 HP:0000400
34 visual impairment63 HP:0000505
35 delayed puberty63 HP:0000823
36 obesity63 HP:0001513
37 eeg abnormality63 HP:0002353
38 scoliosis63 HP:0002650
39 thickened calvaria63 HP:0002684
40 kyphosis63 HP:0002808
41 shortening of all middle phalanges of the fingers63 HP:0006110
42 shortening of all distal phalanges of the fingers63 HP:0006118
43 widely spaced toes63 HP:0008094
44 cervical spinal canal stenosis63 HP:0008445
45 scheuermann-like vertebral changes63 HP:0008478
46 hypoplasia of the prostate63 HP:0008687
47 intellectual disability, severe63 HP:0010864
48 hypogonadism53 Very frequent (99-80%)
49 intellectual disability53 Very frequent (99-80%)
50 joint hyperflexibility53 Occasional (29-5%)
51 sparse hair53 Very frequent (99-80%)
52 decreased testicular size53 Very frequent (99-80%)
53 feeding difficulties in infancy53 Frequent (79-30%)

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 Syndrome26 24 PHF6

Anatomical Context for Borjeson-Forssman-Lehmann Syndrome

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

35
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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.6ARID1A, FLNA, HESX1, LHX3, POU1F1, SMARCA4
2MP:00053798.2ARID1A, HESX1, LHX3, LHX4, POU1F1, PROP1
3MP:00053897.2ARID1A, FLNA, LHX3, POU1F1, PROP1, SMARCA2
4MP:00053786.8ARID1A, DLG3, FLNA, HESX1, LHX3, POU1F1
5MP:00036316.6ARHGEF6, ARID1A, DLG3, FGF13, FLNA, HESX1
6MP:00107685.7ARHGEF7, ARID1A, DLG3, FGF13, FLNA, HESX1

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:

69
id Symbol AA change Variation ID SNP ID
1PHF6p.Cys45TyrVAR_017633rs28935179
2PHF6p.Cys99PheVAR_017634rs132630298
3PHF6p.His229ArgVAR_017635rs104894918
4PHF6p.Lys234GluVAR_017636rs104894917
5PHF6p.Arg257GlyVAR_017637rs104894919
6PHF6p.Cys305PheVAR_076933rs587777489

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)SNVPathogenicrs132630297GRCh37Chr X, 133559286: 133559286
2PHF6NM_001015877.1(PHF6): c.296G> T (p.Cys99Phe)SNVPathogenicrs132630298GRCh37Chr X, 133527586: 133527586
3PHF6NM_001015877.1(PHF6): c.700A> G (p.Lys234Glu)SNVPathogenicrs104894917GRCh37Chr X, 133547967: 133547967
4PHF6NM_001015877.1(PHF6): c.134G> A (p.Cys45Tyr)SNVPathogenicrs132630299GRCh37Chr X, 133511781: 133511781
5PHF6NM_001015877.1(PHF6): c.686A> G (p.His229Arg)SNVPathogenicrs104894918GRCh37Chr X, 133547953: 133547953
6PHF6NM_001015877.1(PHF6): c.2T> C (p.Met1Thr)SNVPathogenicrs132630300GRCh37Chr X, 133511649: 133511649
7PHF6NM_001015877.1(PHF6): c.769A> G (p.Arg257Gly)SNVPathogenicrs104894919GRCh37Chr X, 133549085: 133549085
8PHF6NM_001015877.1(PHF6): c.22A> T (p.Lys8Ter)SNVPathogenicrs132630301GRCh37Chr X, 133511669: 133511669
9PHF6PHF6, IVS2AS, A-G, -8SNVPathogenicChr na, -1: -1
10PHF6PHF6, 1-BP INS, 27AinsertionPathogenicChr na, -1: -1
11PHF6NM_001015877.1(PHF6): c.914G> T (p.Cys305Phe)SNVPathogenicrs587777489GRCh37Chr X, 133551278: 133551278
12PHF6NM_001015877.1(PHF6): c.418G> A (p.Ala140Thr)SNVPathogenicrs864309532GRCh37Chr 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:00715648.5ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCE1
3protein complexGO:00432348.2ARHGEF7, FLNA, SMARCA4, SMARCB1, SMARCE1
4SWI/SNF complexGO:00165148.2ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1
5nBAF complexGO:00715657.8ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1
6nuclear chromatinGO:00007907.4ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCE1
7nucleoplasmGO:00056546.2ARID1A, ARID1B, BANF1, PHF6, POU1F1, SMARCA2
8nucleusGO:00056345.2ARID1A, BANF1, FGF13, FLNA, HESX1, LHX3

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1somatotropin secreting cell differentiationGO:006012610.8POU1F1, PROP1
2medial motor column neuron differentiationGO:002152610.8LHX3, LHX4
3motor neuron axon guidanceGO:000804510.6LHX3, LHX4
4nuclear transportGO:005116910.5BANF1, POU1F1
5animal organ morphogenesisGO:000988710.3LHX3, LHX4, PROP1
6pituitary gland developmentGO:002198310.3LHX3, POU1F1, SOX3
7receptor clusteringGO:004311310.2DLG3, FLNA
8chromatin-mediated maintenance of transcriptionGO:004809610.2ARID1A, ARID1B
9adenohypophysis developmentGO:002198410.1POU1F1, PROP1
10DNA integrationGO:00150749.9BANF1, SMARCB1
11positive regulation of glucose mediated signaling pathwayGO:19026619.8SMARCA4, SMARCB1
12positive regulation by host of viral transcriptionGO:00439239.7SMARCA4, SMARCB1
13positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoterGO:19018389.6SMARCA4, SMARCB1
14nucleosome disassemblyGO:00063378.9ARID1A, SMARCA4, SMARCB1, SMARCE1
15positive regulation of transcription, DNA-templatedGO:00458938.8ARID1A, LHX3, POU1F1, SMARCA2, SMARCA4
16ATP-dependent chromatin remodelingGO:00430448.8ARID1A, SMARCA4, SMARCB1, SMARCE1
17chromatin remodelingGO:00063388.2ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCE1
18regulation of transcription from RNA polymerase II promoterGO:00063578.2ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCE1
19covalent chromatin modificationGO:00165698.0ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1
20positive regulation of transcription from RNA polymerase II promoterGO:00459447.9LHX3, POU1F1, PROP1, SMARCA2, SMARCA4, SMARCB1
21negative regulation of transcription from RNA polymerase II promoterGO:00001227.9ARID1A, POU1F1, PROP1, SMARCA2, SMARCA4, SOX3
22nervous system developmentGO:00073997.6ARHGEF7, ARID1B, DLG3, FGF13, SMARCA2, SMARCA4
23transcription, DNA-templatedGO:00063516.6ARID1A, 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:00474859.9HESX1, 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:00309579.5SMARCA4, SMARCB1
6nucleosomal DNA bindingGO:00314929.4SMARCA4, SMARCB1, SMARCE1
7chromatin bindingGO:00036829.3HESX1, POU1F1, PROP1, SMARCA2, SMARCE1
8RNA polymerase II distal enhancer sequence-specific DNA bindingGO:00009809.2PROP1, SMARCA4, SMARCB1, SMARCE1
9transcription coactivator activityGO:00037138.0ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1
10DNA bindingGO:00036777.4ARID1A, ARID1B, BANF1, HESX1, PHF6, POU1F1
11protein bindingGO:00055154.2ARHGEF6, ARHGEF7, ARID1A, ARID1B, BANF1, DLG3

Sources for Borjeson-Forssman-Lehmann Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet