BFLS
MCID: BRJ001
MIFTS: 43

Borjeson-Forssman-Lehmann Syndrome (BFLS) 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, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Borjeson-Forssman-Lehmann Syndrome:

Name: Borjeson-Forssman-Lehmann Syndrome 52 11 48 24 54 27 12 50 39 13 68
Bfls 11 48 24 54 70
Borj 11 48 70
Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome 48 54
Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome 11 48
Borjeson Syndrome 11 48
Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type 11
 
Mental Retardation, Epilepsy, and Endocrine Disorder 11
Mental Deficiency, Epilepsy and Endocrine Disorders 48
Mental Deficiency-Epilepsy- Endocrine Disorders 70
Boerjeson-Forssman-Lehmann Syndrome 70
Borjeson-Forssman Syndrome 70
Mrxsbfl 11

Characteristics:

Orphanet epidemiological data:

54
borjeson-forssman-lehmann syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

64
borjeson-forssman-lehmann syndrome:
Inheritance: x-linked recessive inheritance

Classifications:



External Ids:

OMIM52 301900
Disease Ontology11 DOID:0050681
ICD1030 Q87.8
Orphanet54 ORPHA127
SNOMED-CT62 21634003
ICD10 via Orphanet31 Q87.8
MESH via Orphanet40 C536575
UMLS via Orphanet69 C0265339
MedGen37 C0265339

Summaries for Borjeson-Forssman-Lehmann Syndrome

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NIH Rare Diseases:48 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 seizures, seizures and Array. An important gene associated with Borjeson-Forssman-Lehmann Syndrome is PHF6 (PHD Finger Protein 6). Affiliated tissues include eye, prostate and skeletal muscle, and related mouse phenotype mortality/aging.

UniProtKB/Swiss-Prot:70 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.

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.

Description from OMIM:52 301900

Related Diseases for Borjeson-Forssman-Lehmann Syndrome

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Graphical network of the top 20 diseases related to Borjeson-Forssman-Lehmann Syndrome:



Diseases related to borjeson-forssman-lehmann syndrome

Symptoms & Phenotypes 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:

 54 64 (show all 50)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism64 54 Very frequent (99-80%) HP:0000028
2 scrotal hypoplasia64 54 Very frequent (99-80%) HP:0000046
3 hypogonadism64 54 Very frequent (99-80%) HP:0000135
4 oral cleft64 54 Occasional (29-5%) HP:0000202
5 microcephaly64 54 Occasional (29-5%) HP:0000252
6 macrocephaly64 54 Occasional (29-5%) HP:0000256
7 coarse facial features64 54 Very frequent (99-80%) HP:0000280
8 prominent supraorbital ridges64 54 Frequent (79-30%) HP:0000336
9 hearing impairment64 54 Occasional (29-5%) HP:0000365
10 deeply set eye64 54 Frequent (79-30%) HP:0000490
11 ptosis64 54 Frequent (79-30%) HP:0000508
12 cataract64 54 Occasional (29-5%) HP:0000518
13 thick eyebrow64 54 Frequent (79-30%) HP:0000574
14 blepharophimosis64 54 Frequent (79-30%) HP:0000581
15 nystagmus64 54 Occasional (29-5%) HP:0000639
16 gynecomastia64 54 Very frequent (99-80%) HP:0000771
17 tapered finger64 54 Very frequent (99-80%) HP:0001182
18 intellectual disability64 54 Very frequent (99-80%) HP:0001249
19 seizures64 54 Occasional (29-5%) HP:0001250
20 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
21 broad foot64 54 Very frequent (99-80%) HP:0001769
22 short toe64 54 Very frequent (99-80%) HP:0001831
23 camptodactyly of toe64 54 Very frequent (99-80%) HP:0001836
24 truncal obesity64 54 Very frequent (99-80%) HP:0001956
25 skeletal muscle atrophy64 54 Occasional (29-5%) HP:0003202
26 abnormality of the hip bone64 54 Occasional (29-5%) HP:0003272
27 short stature64 54 Occasional (29-5%) HP:0004322
28 joint hyperflexibility64 54 Occasional (29-5%) HP:0005692
29 sparse hair64 54 Very frequent (99-80%) HP:0008070
30 decreased testicular size64 54 Very frequent (99-80%) HP:0008734
31 hypoplasia of penis64 54 Very frequent (99-80%) HP:0008736
32 feeding difficulties in infancy64 54 Frequent (79-30%) HP:0008872
33 large earlobe64 54 Very frequent (99-80%) HP:0009748
34 peripheral neuropathy64 54 Occasional (29-5%) HP:0009830
35 micropenis64 HP:0000054
36 macrotia64 HP:0000400
37 visual impairment64 HP:0000505
38 delayed puberty64 HP:0000823
39 obesity64 HP:0001513
40 eeg abnormality64 HP:0002353
41 scoliosis64 HP:0002650
42 thickened calvaria64 HP:0002684
43 kyphosis64 HP:0002808
44 shortening of all middle phalanges of the fingers64 HP:0006110
45 shortening of all distal phalanges of the fingers64 HP:0006118
46 widely spaced toes64 HP:0008094
47 cervical spinal canal stenosis64 HP:0008445
48 scheuermann-like vertebral changes64 HP:0008478
49 hypoplasia of the prostate64 HP:0008687
50 intellectual disability, severe64 HP:0010864

UMLS symptoms related to Borjeson-Forssman-Lehmann Syndrome:


seizures

MGI Mouse Phenotypes related to Borjeson-Forssman-Lehmann Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.5FGF13, PHF6, POU1F1, PROP1, SOX3

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 Syndrome27 24 PHF6

Anatomical Context for Borjeson-Forssman-Lehmann Syndrome

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

36
Eye, Prostate, Skeletal muscle, Bone, Pituitary

Publications for Borjeson-Forssman-Lehmann Syndrome

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Articles related to Borjeson-Forssman-Lehmann Syndrome:

(show all 14)
idTitleAuthorsYear
1
Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome. (28237832)
2017
2
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. (24092917)
2013
3
PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females. (22190899)
2011
4
Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. (15994862)
2006
5
Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6. (15580208)
2004
6
Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency. (14714754)
2003
7
Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene. (14714741)
2003
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
Borjeson-Forssman-Lehmann syndrome and dilated cardiomyopathy: a previously unreported association. (11173318)
2001
10
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
11
Borjeson-Forssman-Lehmann syndrome: two severely handicapped females in a family. (9213062)
1997
12
The Borjeson-Forssman-Lehmann syndrome. A family study. (3720009)
1986
13
Borjeson-Forssman-Lehmann syndrome in a girl. (6439922)
1984
14
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:

70
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, -8SNVPathogenic
10PHF6PHF6, 1-BP INS, 27AinsertionPathogenic
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
1transcription factor complexGO:00056679.1POU1F1, PROP1

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

idNameGO IDScoreTop Affiliating Genes
1pituitary gland developmentGO:002198310.1POU1F1, SOX3
2adenohypophysis developmentGO:00219849.9POU1F1, PROP1
3central nervous system developmentGO:00074179.8PROP1, SOX3
4negative regulation of transcription from RNA polymerase II promoterGO:00001229.3POU1F1, PROP1, SOX3
5somatotropin secreting cell differentiationGO:00601269.1POU1F1, PROP1
6regulation of transcription, DNA-templatedGO:00063558.1PHF6, POU1F1, PROP1, SOX3

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

idNameGO IDScoreTop Affiliating Genes
1DNA bindingGO:00036778.1PHF6, POU1F1, PROP1, SOX3

Sources for Borjeson-Forssman-Lehmann Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet