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

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Borjeson-Forssman-Lehmann Syndrome:

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

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

HPO:

61
borjeson-forssman-lehmann syndrome:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM49 301900
Disease Ontology10 DOID:0050681
Orphanet51 127
SNOMED-CT59 21634003
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C536575
UMLS via Orphanet66 C0265339
MedGen34 C0265339
UMLS65 C0265339

Summaries for Borjeson-Forssman-Lehmann Syndrome

About this section
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 neuronitis and leukemia, and has symptoms including cognitive impairment, abnormal hair quantity and large earlobe. An important gene associated with Borjeson-Forssman-Lehmann Syndrome is PHF6 (PHD Finger Protein 6), and among its related pathways are BRCA1 Pathway and AMPK Enzyme Complex Pathway. Affiliated tissues include eye, testes and prostate, and related mouse phenotypes are craniofacial and growth/size/body region.

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

About this section

Diseases related to Borjeson-Forssman-Lehmann Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1neuronitis10.9
2leukemia10.8
3t-cell leukemia10.8
4coronary artery disease10.7
5hepatitis c virus10.7
6myelodysplastic syndrome10.7
7bloom syndrome10.7
8hematopoietic stem cell transplantation10.7
9hepatitis10.7
10artery disease10.7
11lymphoma10.7
12pseudobulbar palsy10.7
13hepatitis c10.7
14gingivitis10.7
15mouth disease10.7
16brain edema10.7
17prosopagnosia10.7
18gingival hypertrophy10.7
19ring chromosome 710.7
20neuronal migration disorders10.7
21posterior uveitis10.3LHX3, PROP1
22mesocardia10.2HESX1, LHX4, SOX3
23osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome10.2ARID1B, SMARCA2
24opitz-gbbb syndrome10.2ARHGEF6, ARHGEF7, DLG3
25aortic valve atresia10.2HESX1, LHX4, POU1F1, PROP1
26nphp3-related meckel-like syndrome10.2SMARCB1, SMARCE1
27poland syndrome10.1ARID1B, FGF13
28septooptic dysplasia10.1HESX1, LHX3, POU1F1, PROP1
29acute myeloid leukemia, flt3-related10.1HESX1, LHX3, POU1F1, PROP1
30isolated levocardia10.1HESX1, LHX4, POU1F1, SOX3
31staphyloenterotoxemia10.1PHF6, SMARCB1
32hypothryoidism, congenital, nongoitrous 410.1POU1F1, PROP1
33eyelid disease10.1HESX1, LHX3, PROP1, SOX3
34inherited predisposition to essential thrombocythemia10.0HESX1, LHX3, LHX4, POU1F1, PROP1
35tooth erosion10.0SMARCA2, SMARCA4
36complement component 8 deficiency10.0HESX1, LHX3, LHX4, POU1F1, PROP1
37renal artery atheroma10.0SMARCA2, SMARCA4
38beckwith-wiedemann syndrome due to imprinting defect of 11p1510.0SMARCA4, SMARCB1
39takayasu's arteritis10.0SMARCA2, SMARCA4
40ossifying fibromyxoid tumor10.0ARID1A, BANF1
41female urethral cancer10.0HESX1, LHX3, LHX4, POU1F1, SOX3
42tumor predisposition syndrome9.9SMARCA4, SMARCB1
43rectum kaposi's sarcoma9.9SMARCA4, SMARCB1
44molybdenum cofactor deficiency b9.8HESX1, LHX3, LHX4, POU1F1, PROP1, SOX3
45strictly posterior acute myocardial infarction9.8HESX1, LHX3, LHX4, POU1F1, PROP1, SOX3
46alopecia, neurologic defects, and endocrinopathy syndrome8.6ARID1A, ARID1B, BANF1, PHF6, SMARCA2, SMARCA4
47pituitary adenoma, growth hormone-secreting 26.4ARHGEF6, 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

About this section

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 61)
id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 abnormal hair quantity hallmark (90%) HP:0011362
3 large earlobe hallmark (90%) HP:0009748
4 hypoplasia of penis hallmark (90%) HP:0008736
5 truncal obesity hallmark (90%) HP:0001956
6 camptodactyly of toe hallmark (90%) HP:0001836
7 short toe hallmark (90%) HP:0001831
8 broad foot hallmark (90%) HP:0001769
9 muscular hypotonia hallmark (90%) HP:0001252
10 tapered finger hallmark (90%) HP:0001182
11 gynecomastia hallmark (90%) HP:0000771
12 coarse facial features hallmark (90%) HP:0000280
13 scrotal hypoplasia hallmark (90%) HP:0000046
14 cryptorchidism hallmark (90%) HP:0000028
15 blepharophimosis typical (50%) HP:0000581
16 thick eyebrow typical (50%) HP:0000574
17 ptosis typical (50%) HP:0000508
18 deeply set eye typical (50%) HP:0000490
19 prominent supraorbital ridges typical (50%) HP:0000336
20 peripheral neuropathy occasional (7.5%) HP:0009830
21 short stature occasional (7.5%) HP:0004322
22 abnormality of the hip bone occasional (7.5%) HP:0003272
23 skeletal muscle atrophy occasional (7.5%) HP:0003202
24 joint hypermobility occasional (7.5%) HP:0001382
25 seizures occasional (7.5%) HP:0001250
26 nystagmus occasional (7.5%) HP:0000639
27 cataract occasional (7.5%) HP:0000518
28 hearing impairment occasional (7.5%) HP:0000365
29 macrocephaly occasional (7.5%) HP:0000256
30 microcephaly occasional (7.5%) HP:0000252
31 oral cleft occasional (7.5%) HP:0000202
32 intellectual disability, severe HP:0010864
33 hypoplasia of the prostate HP:0008687
34 scheuermann-like vertebral changes HP:0008478
35 cervical spinal canal stenosis HP:0008445
36 widely spaced toes HP:0008094
37 shortening of all distal phalanges of the fingers HP:0006118
38 shortening of all middle phalanges of the fingers HP:0006110
39 short stature HP:0004322
40 kyphosis HP:0002808
41 thickened calvaria HP:0002684
42 scoliosis HP:0002650
43 eeg abnormality HP:0002353
44 short toe HP:0001831
45 obesity HP:0001513
46 muscular hypotonia HP:0001252
47 seizures HP:0001250
48 tapered finger HP:0001182
49 delayed puberty HP:0000823
50 gynecomastia HP:0000771
51 nystagmus HP:0000639
52 blepharophimosis HP:0000581
53 ptosis HP:0000508
54 visual impairment HP:0000505
55 deeply set eye HP:0000490
56 macrotia HP:0000400
57 prominent supraorbital ridges HP:0000336
58 coarse facial features HP:0000280
59 microcephaly HP:0000252
60 micropenis HP:0000054
61 cryptorchidism HP:0000028

Drugs & Therapeutics for Borjeson-Forssman-Lehmann Syndrome

About this section

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

About this section

Genetic tests related to Borjeson-Forssman-Lehmann Syndrome:

id Genetic test Affiliating Genes
1 Borjeson-Forssman-Lehmann Syndrome22 PHF6

Anatomical Context for Borjeson-Forssman-Lehmann Syndrome

About this section

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

33
Eye, Testes, Prostate, Bone, Skeletal muscle, Breast, Myeloid

Animal Models for Borjeson-Forssman-Lehmann Syndrome or affiliated genes

About this section

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053827.9HESX1, LHX3, MECOM, POU1F1, SMARCA4, SOX3
2MP:00053786.0ARID1A, DLG3, HESX1, LHX3, MECOM, POU1F1
3MP:00036315.9ARHGEF6, ARID1A, DLG3, FGF13, HESX1, LHX3
4MP:00107684.7ARHGEF7, ARID1A, DLG3, FGF13, HESX1, LHX3

Publications for Borjeson-Forssman-Lehmann Syndrome

About this section

Articles related to Borjeson-Forssman-Lehmann Syndrome:

(show all 13)
idTitleAuthorsYear
1
C3G forms complexes with Bcr-Abl and p38I+ MAPK at the focal adhesions in chronic myeloid leukemia cells: implication in the regulation of leukemic cell adhesion. (23343344)
2013
2
Abdominal Tuberculosis in Children and Adolescents: to this Day a Diagnostic Challenge. (22930252)
2012
3
Empathy and alexithymia in borderline personality disorder: clinical and laboratory measures. (23013336)
2012
4
Neuropeptide S facilitates spatial memory and mitigates spatial memory impairment induced by N-methyl-D-aspartate receptor antagonist in mice. (19429110)
2009
5
Activation of the signal transducers and activators of the transcription 3 pathway in alveolar epithelial cells induces inflammation and adenocarcinomas in mouse lung. (17875688)
2007
6
Complete elucidation of a minimal class I MHC natural killer cell receptor haplotype. (15931229)
2005
7
Weak platelet agonists and U46619 induce apoptosis-like events in platelets, in the absence of phosphatidylserine exposure. (12565722)
2002
8
Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21. (9731535)
1998
9
Duodenal secretion of phospholipase A2, amylase, and bicarbonate in chronic pancreatitis. (9605959)
1998
10
Erythropoietin enhances vascular responsiveness to norepinephrine in renal failure. (7474668)
1995
11
Binswanger's disease (Part II): Pathogenesis of subcortical arteriosclerotic encephalopathy and its relation to other dementing processes. (2699555)
1989
12
Posterior persistent hyperplastic primary vitreous. (3377066)
1988
13
Ultrastructural and freeze fracture localization of multilamellar liposomes containing a lipophilic cisplatin analogue in normal tissues and liver metastases of M5076 reticulosarcoma. (3322541)
1987

Variations for Borjeson-Forssman-Lehmann Syndrome

About this section

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 12)
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
12PHF6NM_001015877.1(PHF6): c.418G> A (p.Ala140Thr)single nucleotide variantPathogenicrs864309532GRCh37Chr X, 133527982: 133527982

Expression for genes affiliated with Borjeson-Forssman-Lehmann Syndrome

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

Pathways for genes affiliated with Borjeson-Forssman-Lehmann Syndrome

About this section

GO Terms for genes affiliated with Borjeson-Forssman-Lehmann Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:00432349.0SMARCA4, SMARCB1, SMARCE1

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1adenohypophysis developmentGO:002198410.7POU1F1, PROP1
2motor neuron axon guidanceGO:000804510.5LHX3, LHX4
3pituitary gland developmentGO:002198310.4LHX3, SOX3
4chromatin-mediated maintenance of transcriptionGO:004809610.1ARID1A, ARID1B
5lamellipodium assemblyGO:003003210.1ARHGEF6, ARHGEF7
6positive regulation of glucose mediated signaling pathwayGO:190266110.0SMARCA4, SMARCB1
7positive regulation by host of viral transcriptionGO:004392310.0SMARCA4, SMARCB1
8positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoterGO:19018389.8SMARCA4, SMARCB1
9ATP-dependent chromatin remodelingGO:00430449.4ARID1A, SMARCA4, SMARCB1
10transcription, DNA-templatedGO:00063518.0ARID1A, LHX3, LHX4, SMARCA4, SMARCB1, SOX3
11positive regulation of transcription, DNA-templatedGO:00458937.9ARID1A, LHX3, MECOM, POU1F1, SMARCA2, SMARCA4

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

idNameGO IDScoreTop Affiliating Genes
1nucleosomal DNA bindingGO:00314929.8SMARCB1, SMARCE1
2RNA polymerase II distal enhancer sequence-specific DNA bindingGO:00009809.7SMARCA4, SMARCE1
3hydrolase activity, acting on acid anhydridesGO:00168179.4SMARCA2, SMARCA4
4p53 bindingGO:00020399.0SMARCA4, SMARCB1

Sources for Borjeson-Forssman-Lehmann Syndrome

About this section
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