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

Aliases & Descriptions for Borjeson-Forssman-Lehmann Syndrome:

Name: Borjeson-Forssman-Lehmann Syndrome 54 12 50 24 56 29 13 52 42 14 69
Bfls 12 50 24 56 66
Borj 12 50 66
Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome 12 50
Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome 50 56
Borjeson Syndrome 12 50
Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type 12
Mental Retardation, Epilepsy, and Endocrine Disorder 12
Mental Deficiency, Epilepsy and Endocrine Disorders 50
Mental Deficiency-Epilepsy- Endocrine Disorders 66
Boerjeson-Forssman-Lehmann Syndrome 66
Borjeson-Forssman Syndrome 66
Mrxsbfl 12

Characteristics:

Orphanet epidemiological data:

56
borjeson-forssman-lehmann syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

HPO:

32
borjeson-forssman-lehmann syndrome:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 301900
Disease Ontology 12 DOID:0050681
ICD10 33 Q87.8
SNOMED-CT 64 21634003
Orphanet 56 ORPHA127
ICD10 via Orphanet 34 Q87.8
MESH via Orphanet 43 C536575
UMLS via Orphanet 70 C0265339
MedGen 40 C0265339
UMLS 69 C0265339

Summaries for Borjeson-Forssman-Lehmann Syndrome

NIH Rare Diseases : 50 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, macrocephaly and ptosis. An important gene associated with Borjeson-Forssman-Lehmann Syndrome is PHF6 (PHD Finger Protein 6). Affiliated tissues include eye, bone and skeletal muscle, and related phenotype is mortality/aging.

Disease Ontology : 12 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 : 66 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: 301900

Related Diseases for Borjeson-Forssman-Lehmann Syndrome

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

Symptoms by clinical synopsis from OMIM:

301900

Clinical features from OMIM:

301900

Human phenotypes related to Borjeson-Forssman-Lehmann Syndrome:

56 32 (show all 50)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 macrocephaly 56 32 Occasional (29-5%) HP:0000256
3 ptosis 56 32 Frequent (79-30%) HP:0000508
4 nystagmus 56 32 Occasional (29-5%) HP:0000639
5 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
6 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
7 coarse facial features 56 32 Very frequent (99-80%) HP:0000280
8 prominent supraorbital ridges 56 32 Frequent (79-30%) HP:0000336
9 hearing impairment 56 32 Occasional (29-5%) HP:0000365
10 cataract 56 32 Occasional (29-5%) HP:0000518
11 microcephaly 56 32 Occasional (29-5%) HP:0000252
12 thick eyebrow 56 32 Frequent (79-30%) HP:0000574
13 short stature 56 32 Occasional (29-5%) HP:0004322
14 feeding difficulties in infancy 56 32 Frequent (79-30%) HP:0008872
15 skeletal muscle atrophy 56 32 Occasional (29-5%) HP:0003202
16 peripheral neuropathy 56 32 Occasional (29-5%) HP:0009830
17 joint hyperflexibility 56 32 Occasional (29-5%) HP:0005692
18 abnormality of the hip bone 56 32 Occasional (29-5%) HP:0003272
19 cryptorchidism 56 32 Very frequent (99-80%) HP:0000028
20 short toe 56 32 Very frequent (99-80%) HP:0001831
21 hypogonadism 56 32 Very frequent (99-80%) HP:0000135
22 deeply set eye 56 32 Frequent (79-30%) HP:0000490
23 decreased testicular size 56 32 Very frequent (99-80%) HP:0008734
24 hypoplasia of penis 56 32 Very frequent (99-80%) HP:0008736
25 blepharophimosis 56 32 Frequent (79-30%) HP:0000581
26 gynecomastia 56 32 Very frequent (99-80%) HP:0000771
27 large earlobe 56 32 Very frequent (99-80%) HP:0009748
28 tapered finger 56 32 Very frequent (99-80%) HP:0001182
29 sparse hair 56 32 Very frequent (99-80%) HP:0008070
30 oral cleft 56 32 Occasional (29-5%) HP:0000202
31 scrotal hypoplasia 56 32 Very frequent (99-80%) HP:0000046
32 truncal obesity 56 32 Very frequent (99-80%) HP:0001956
33 broad foot 56 32 Very frequent (99-80%) HP:0001769
34 camptodactyly of toe 56 32 Very frequent (99-80%) HP:0001836
35 obesity 32 HP:0001513
36 eeg abnormality 32 HP:0002353
37 scoliosis 32 HP:0002650
38 kyphosis 32 HP:0002808
39 macrotia 32 HP:0000400
40 thickened calvaria 32 HP:0002684
41 visual impairment 32 HP:0000505
42 delayed puberty 32 HP:0000823
43 intellectual disability, severe 32 HP:0010864
44 micropenis 32 HP:0000054
45 shortening of all middle phalanges of the fingers 32 HP:0006110
46 cervical spinal canal stenosis 32 HP:0008445
47 shortening of all distal phalanges of the fingers 32 HP:0006118
48 widely spaced toes 32 HP:0008094
49 scheuermann-like vertebral changes 32 HP:0008478
50 hypoplasia of the prostate 32 HP:0008687

UMLS symptoms related to Borjeson-Forssman-Lehmann Syndrome:


seizures

MGI Mouse Phenotypes related to Borjeson-Forssman-Lehmann Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.02 FGF13 PHF6 POU1F1 PROP1 SOX3

Drugs & Therapeutics for Borjeson-Forssman-Lehmann Syndrome

Search Clinical Trials , NIH Clinical Center for Borjeson-Forssman-Lehmann Syndrome

Cochrane evidence based reviews: borjeson-forssman-lehmann syndrome

Genetic Tests for Borjeson-Forssman-Lehmann Syndrome

Genetic tests related to Borjeson-Forssman-Lehmann Syndrome:

id Genetic test Affiliating Genes
1 Borjeson-Forssman-Lehmann Syndrome 29 24 PHF6

Anatomical Context for Borjeson-Forssman-Lehmann Syndrome

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

39
Eye, Bone, Skeletal Muscle, Prostate, Pituitary

Publications for Borjeson-Forssman-Lehmann Syndrome

Articles related to Borjeson-Forssman-Lehmann Syndrome:

(show all 14)
id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 PHF6 p.Cys45Tyr VAR_017633 rs28935179
2 PHF6 p.Cys99Phe VAR_017634 rs132630298
3 PHF6 p.His229Arg VAR_017635 rs104894918
4 PHF6 p.Lys234Glu VAR_017636 rs104894917
5 PHF6 p.Arg257Gly VAR_017637 rs104894919
6 PHF6 p.Cys305Phe VAR_076933 rs587777489

ClinVar genetic disease variations for Borjeson-Forssman-Lehmann Syndrome:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 PHF6 NM_001015877.1(PHF6): c.1024C> T (p.Arg342Ter) single nucleotide variant Pathogenic rs132630297 GRCh37 Chromosome X, 133559286: 133559286
2 PHF6 NM_001015877.1(PHF6): c.296G> T (p.Cys99Phe) single nucleotide variant Pathogenic rs132630298 GRCh37 Chromosome X, 133527586: 133527586
3 PHF6 NM_001015877.1(PHF6): c.700A> G (p.Lys234Glu) single nucleotide variant Pathogenic rs104894917 GRCh37 Chromosome X, 133547967: 133547967
4 PHF6 NM_001015877.1(PHF6): c.134G> A (p.Cys45Tyr) single nucleotide variant Pathogenic rs132630299 GRCh37 Chromosome X, 133511781: 133511781
5 PHF6 NM_001015877.1(PHF6): c.686A> G (p.His229Arg) single nucleotide variant Pathogenic rs104894918 GRCh37 Chromosome X, 133547953: 133547953
6 PHF6 NM_001015877.1(PHF6): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs132630300 GRCh37 Chromosome X, 133511649: 133511649
7 PHF6 NM_001015877.1(PHF6): c.769A> G (p.Arg257Gly) single nucleotide variant Pathogenic rs104894919 GRCh37 Chromosome X, 133549085: 133549085
8 PHF6 NM_001015877.1(PHF6): c.22A> T (p.Lys8Ter) single nucleotide variant Pathogenic rs132630301 GRCh37 Chromosome X, 133511669: 133511669
9 PHF6 PHF6, IVS2AS, A-G, -8 single nucleotide variant Pathogenic
10 PHF6 PHF6, 1-BP INS, 27A insertion Pathogenic
11 PHF6 NM_001015877.1(PHF6): c.914G> T (p.Cys305Phe) single nucleotide variant Pathogenic rs587777489 GRCh37 Chromosome X, 133551278: 133551278
12 PHF6 NM_001015877.1(PHF6): c.418G> A (p.Ala140Thr) single nucleotide variant Pathogenic rs864309532 GRCh37 Chromosome X, 133527982: 133527982

Expression for Borjeson-Forssman-Lehmann Syndrome

Search GEO for disease gene expression data for Borjeson-Forssman-Lehmann Syndrome.

Pathways for Borjeson-Forssman-Lehmann Syndrome

GO Terms for Borjeson-Forssman-Lehmann Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 8.62 POU1F1 PROP1

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

id Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.67 PHF6 POU1F1 PROP1 SOX3
2 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.5 POU1F1 PROP1 SOX3
3 central nervous system development GO:0007417 9.26 PROP1 SOX3
4 pituitary gland development GO:0021983 9.16 POU1F1 SOX3
5 adenohypophysis development GO:0021984 8.96 POU1F1 PROP1
6 somatotropin secreting cell differentiation GO:0060126 8.62 POU1F1 PROP1

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

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 8.92 PHF6 POU1F1 PROP1 SOX3

Sources for Borjeson-Forssman-Lehmann Syndrome

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