Borjeson-Forssman-Lehmann Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

BFLS MCID: BRJ001 MIFTS: 54	Borjeson-Forssman-Lehmann Syndrome (BFLS) Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Borjeson-Forssman-Lehmann Syndrome

MalaCards integrated aliases for Borjeson-Forssman-Lehmann Syndrome:

Name: Borjeson-Forssman-Lehmann Syndrome ⁵⁸ ¹² ⁵⁴ ⁶⁰ ³⁸ ³⁰ ¹³ ⁵⁶ ⁶ ⁴⁵ ¹⁵ ⁴¹ ⁷⁴

Bfls ⁵⁸ ¹² ⁵⁴ ⁶⁰ ⁷⁶

Borj ⁵⁸ ¹² ⁵⁴ ⁷⁶

Borjeson Syndrome ⁵⁸ ¹² ⁵⁴

Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome ¹² ⁵⁴

Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome ⁵⁴ ⁶⁰

Mrxsbfl ⁵⁸ ¹²

Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type; Mrxsbfl ⁵⁸

Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type ⁵⁸

Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type ¹²

Mental Retardation, Epilepsy, and Endocrine Disorders ⁵⁸

Mental Retardation, Epilepsy, and Endocrine Disorder ¹²

Mental Deficiency, Epilepsy and Endocrine Disorders ⁵⁴

Mental Deficiency-Epilepsy- Endocrine Disorders ⁷⁶

Boerjeson-Forssman-Lehmann Syndrome ⁷⁶

Borjeson-Forssman Syndrome ⁷⁶

Borjeson Syndrome; Borj ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
x-linked recessive

Miscellaneous:
majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 mutation)
some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation)

HPO:

³³

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Endocrine diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁶⁰

Rare neurological diseases

Rare eye diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0050681

OMIM ⁵⁸ 301900

KEGG ³⁸ H01915

MeSH ⁴⁵ C536575 D008607

SNOMED-CT ⁶⁹ 21634003

MESH via Orphanet ⁴⁶ C536575

ICD10 via Orphanet ³⁵ Q87.8

UMLS via Orphanet ⁷⁵ C0265339

Orphanet ⁶⁰ ORPHA127

MedGen ⁴³ C0265339

SNOMED-CT via HPO ⁷⁰ 103276001 111266001 11934000 more

UMLS ⁷⁴ C0265339

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Summaries for Borjeson-Forssman-Lehmann Syndrome

NIH Rare Diseases : ⁵⁴ 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 recessivetrait, which means the disorder is fully expressed predominantly in males.

MalaCards based summary : Borjeson-Forssman-Lehmann Syndrome, also known as bfls, is related to male pseudohermaphroditism intellectual disability syndrome, verloes type and bird fancier's lung, and has symptoms including seizures An important gene associated with Borjeson-Forssman-Lehmann Syndrome is PHF6 (PHD Finger Protein 6), and among its related pathways/superpathways are Chromatin organization and Gastric cancer. Affiliated tissues include pituitary, eye and bone, and related phenotypes are intellectual disability and muscular hypotonia

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 : ⁷⁶ 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.

Wikipedia : ⁷⁷ Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare genetic disease that causes intellectual disability,... more...

Description from OMIM: 301900

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Related Diseases for Borjeson-Forssman-Lehmann Syndrome

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

(show all 38)

#	Related Disease	Score	Top Affiliating Genes
1	male pseudohermaphroditism intellectual disability syndrome, verloes type	11.8
2	bird fancier's lung	11.5
3	dilated cardiomyopathy	10.5
4	hypogonadism	10.5
5	hypogonadotropism	10.5
6	isolated growth hormone deficiency type iii	10.3	HESX1 SOX3
7	neonatal thyrotoxicosis	10.3	LHX3 PROP1
8	nicolaides-baraitser syndrome	10.2	ARID1B SMARCA2
9	lateral meningocele syndrome	10.1
10	neutropenia	10.1
11	alpha thalassemia-x-linked intellectual disability syndrome	10.1	SMARCA2 SMARCA4
12	enamel erosion	10.1	SMARCA2 SMARCA4
13	root caries	10.1	SMARCA2 SMARCA4
14	hypothyroidism	10.1	HESX1 LHX3 POU1F1 PROP1
15	tooth erosion	10.0	SMARCA2 SMARCA4
16	pituitary stalk interruption syndrome	10.0	HESX1 LHX4 POU1F1 SOX3
17	epilepsy	10.0
18	schimke immunoosseous dysplasia	10.0	SMARCA2 SMARCA4
19	pituitary hormone deficiency, combined, 1	10.0	HESX1 LHX3 LHX4 POU1F1
20	isolated growth hormone deficiency	10.0	HESX1 POU1F1 PROP1 SOX3
21	combined pituitary hormone deficiencies, genetic forms	10.0	HESX1 LHX4 POU1F1 PROP1
22	pituitary gland disease	10.0	HESX1 LHX3 POU1F1 PROP1
23	kallmann syndrome	9.9	HESX1 LHX3 PROP1
24	hypothyroidism, congenital, nongoitrous, 4	9.9	POU1F1 PROP1
25	gingival disease	9.9	SMARCA2 SMARCA4
26	pituitary hypoplasia	9.9	HESX1 LHX3 LHX4 POU1F1 SOX3
27	hypothyroidism due to deficient transcription factors involved in pituitary development or function	9.9	HESX1 LHX3 LHX4 POU1F1 PROP1
28	combined pituitary hormone deficiency	9.9	HESX1 LHX3 LHX4 POU1F1 PROP1
29	central nervous system sarcoma	9.8	SMARCA4 SMARCB1
30	neurilemmomatosis	9.8	SMARCB1 SMARCE1
31	rhabdoid cancer	9.8	SMARCA4 SMARCB1
32	septooptic dysplasia	9.8	HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
33	pituitary hormone deficiency, combined, 2	9.8	HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
34	hypopituitarism	9.8	HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
35	tumor predisposition syndrome	9.7	SMARCA4 SMARCB1
36	hypertrichosis	9.1	ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1
37	coffin-siris syndrome 1	8.6	ARID1A ARID1B BANF1 PHF6 SMARCA2 SMARCA4
38	autosomal dominant non-syndromic intellectual disability	8.6	ARID1A ARID1B BANF1 PHF6 SMARCA2 SMARCA4

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

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Symptoms & Phenotypes for Borjeson-Forssman-Lehmann Syndrome

Human phenotypes related to Borjeson-Forssman-Lehmann Syndrome:

⁶⁰ ³³ (show top 50) (show all 52)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001249
2	muscular hypotonia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001252
3	coarse facial features ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000280
4	cryptorchidism ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000028
5	short toe ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001831
6	hypogonadism ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000135
7	decreased testicular size ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0008734
8	hypoplasia of penis ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0008736
9	gynecomastia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000771
10	large earlobe ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0009748
11	tapered finger ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001182
12	sparse hair ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0008070
13	scrotal hypoplasia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000046
14	truncal obesity ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001956
15	broad foot ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001769
16	camptodactyly of toe ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001836
17	ptosis ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000508
18	prominent supraorbital ridges ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000336
19	thick eyebrow ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000574
20	feeding difficulties in infancy ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0008872
21	deeply set eye ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000490
22	blepharophimosis ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000581
23	macrocephaly ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000256
24	nystagmus ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000639
25	seizures ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001250
26	hearing impairment ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000365
27	cataract ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000518
28	microcephaly ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000252
29	short stature ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0004322
30	skeletal muscle atrophy ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0003202
31	peripheral neuropathy ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0009830
32	joint hyperflexibility ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0005692
33	abnormality of the hip bone ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0003272
34	oral cleft ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000202
35	obesity ³³			HP:0001513
36	eeg abnormality ³³			HP:0002353
37	scoliosis ³³			HP:0002650
38	kyphosis ³³			HP:0002808
39	macrotia ³³			HP:0000400
40	thickened calvaria ³³			HP:0002684
41	visual impairment ³³			HP:0000505
42	delayed puberty ³³			HP:0000823
43	intellectual disability, severe ³³			HP:0010864
44	micropenis ³³			HP:0000054
45	generalized hypotonia ³³			HP:0001290
46	shortening of all middle phalanges of the fingers ³³			HP:0006110
47	narrow palpebral fissure ³³			HP:0045025
48	cervical spinal canal stenosis ³³			HP:0008445
49	scheuermann-like vertebral changes ³³			HP:0008478
50	widely spaced toes ³³			HP:0008094

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Eyes:
ptosis
nystagmus
deep-set eyes
poor vision
narrow palpebral fissures

Skeletal Spine:
kyphosis
narrow cervical spinal canal
mild scoliosis
scheuermann-like vertebral changes

Head And Neck Head:
microcephaly

Endocrine Features:
delayed puberty

Head And Neck Ears:
large ears

Skeletal Hands:
hypoplastic distal and middle phalanges
tapering fingers
soft, fleshy hands

Growth Weight:
moderate obesity

Skeletal Skull:
thick calvarium

Neurologic Central Nervous System:
seizures
hypotonia
severe mental retardation (iq 10-40)
abnormal eeg (poor alpha rhythms)

Head And Neck Face:
prominent supraorbital ridges
coarse facies

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism
small, atrophic testes
hypoplastic prostate

Genitourinary External Genitalia Male:
small penis

Skeletal Feet:
short toes
widely spaced and flexed toes

Chest Breasts:
gynecomastia, postpubertal

Clinical features from OMIM:

301900

UMLS symptoms related to Borjeson-Forssman-Lehmann Syndrome:

seizures

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

²⁷

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased Nanog expression	GR00371-A-1	9.64	ARID1A BANF1 PROP1 SMARCA4 SMARCB1 SMARCE1
2	Increased Nanog expression	GR00371-A-2	9.64	SMARCE1
3	Increased Nanog expression	GR00371-A-3	9.64	ARID1A PROP1
4	Increased Nanog expression	GR00371-A-5	9.64	ARID1A BANF1 POU1F1 PROP1

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

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.09	ARID1A FGF13 FLNA LHX3 POU1F1 SMARCA2
2	growth/size/body region	MP:0005378	10.06	ARID1A ARID1B FLNA HESX1 LHX3 POU1F1
3	mortality/aging	MP:0010768	10.03	ARID1A ARID1B FGF13 FLNA HESX1 LHX3
4	endocrine/exocrine gland	MP:0005379	10.02	ARID1A HESX1 LHX3 LHX4 POU1F1 PROP1
5	homeostasis/metabolism	MP:0005376	10	ARID1A ARID1B FLNA LHX3 LHX4 POU1F1
6	craniofacial	MP:0005382	9.95	ARID1A FLNA HESX1 LHX3 POU1F1 SMARCA4
7	nervous system	MP:0003631	9.73	ARID1A ARID1B FGF13 FLNA HESX1 LHX3
8	reproductive system	MP:0005389	9.23	ARID1A FLNA LHX3 POU1F1 PROP1 SMARCA2

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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

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Genetic Tests for Borjeson-Forssman-Lehmann Syndrome

Genetic tests related to Borjeson-Forssman-Lehmann Syndrome:

#	Genetic test	Affiliating Genes
1	Borjeson-Forssman-Lehmann Syndrome ³⁰	PHF6

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Anatomical Context for Borjeson-Forssman-Lehmann Syndrome

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

⁴²

Pituitary, Eye, Bone, Skeletal Muscle, Prostate, Testes, T Cells

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Publications for Borjeson-Forssman-Lehmann Syndrome

Articles related to Borjeson-Forssman-Lehmann Syndrome:

(show all 43)

#	Title	Authors	Year
1	A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome. ( 30630810 )	Zhang X...Yu Y	2019
2	Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome. ( 30403997 )	Cheng C...Bonni A	2018
3	Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome. ( 28237832 )	Kasper BS...Zweier C	2017
4	An unusual linear hypermelanosis reflecting lyonization in women with Börjeson-Forssman-Lehmann syndrome. ( 25209262 )	Happle R	2016
5	Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function. ( 27633282 )	Jahani-Asl A...Bonni A	2016
6	Structural and functional insights into the human Börjeson-Forssman-Lehmann syndrome-associated protein PHF6. ( 24554700 )	Liu Z...Shi Y	2014
7	A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. ( 24092917 )	Zweier C...Wieczorek D	2013
8	A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. ( 23906836 )	Wieczorek D...Wollnik B	2013
9	PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females. ( 22190899 )	Berland S...Hovland R	2011
10	T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6. ( 20806366 )	Chao MM...Kratz CP	2010
11	Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations. ( 19161141 )	Carter MT...Graham GE	2009
12	Behavioural phenotype in Börjeson-Forssman-Lehmann syndrome. ( 19187102 )	de Winter CF...Hennekam RC	2009
13	Börjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene. ( 19264739 )	Mangelsdorf M...Picketts DJ	2009
14	Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity. ( 17698420 )	Voss AK...Thomas T	2007
15	Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. ( 15994862 )	Crawford J...G?cz J	2006
16	The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900). ( 16912705 )	G?cz J...Partington M	2006
17	The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. ( 14756673 )	Turner G...Partington M	2004
18	1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family. ( 15241480 )	Lower KM...G?cz J	2004
19	A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome. ( 15466013 )	Vall?e D...Picketts DJ	2004
20	Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6. ( 15580208 )	Visootsak J...Graham JM	2004
21	Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome. ( 12676923 )	Baumstark A...Just W	2003
22	Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene. ( 14714741 )	Dattani MT	2003
23	Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency. ( 14714754 )	Birrell G...Cheetham TD	2003
24	Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. ( 12415272 )	Lower KM...G?cz J	2002
25	Borjeson-Forssman-Lehmann syndrome and dilated cardiomyopathy: a previously unreported association. ( 11173318 )	Kaplinsky E...Perrone SV	2001
26	Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Börjeson-Forssman-Lehmann syndrome and MRX27. ( 11337747 )	Lower KM...Gecz J	2001
27	Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient. ( 10071193 )	Gecz J...Mulley JC	1999
28	Börjeson-Forssman-Lehmann syndrome in a woman with skewed X-chromosome inactivation. ( 10564881 )	Kubota T...Fukushima Y	1999
29	Borjeson-Forssman-Lehmann syndrome: two severely handicapped females in a family. ( 9213062 )	Petridou M...Kazis A	1997
30	Refinement of the background genetic map of Xq26-q27 and gene localisation for Börjeson-Forssman-Lehmann Syndrome. ( 8826450 )	Gedeon AK...Mulley JC	1996
31	Gene localization in Börjeson-Forssman-Lehmann syndrome and other X-linked mental retardation syndromes. ( 2018066 )	Chudley AE	1991
32	Börjeson-Forssman-Lehmann syndrome localization. ( 2491427 )	Mathews KD...Mulley J	1989
33	Börjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27. ( 2624253 )	Turner G...Arthur I	1989
34	Linkage localization of Börjeson-Forssman-Lehmann syndrome. ( 2624254 )	Mathews KD...Bartley JA	1989
35	The Borjeson-Forssman-Lehmann syndrome. A family study. ( 3720009 )	Dereymaeker AM...van den Berghe H	1986
36	Dermatoglyphics in Börjeson-Forssman-Lehmann syndrome. ( 4014320 )	Flannery DB...Wright LE	1985
37	Borjeson-Forssman-Lehmann syndrome in a girl. ( 6439922 )	Matsuo K...Kajii T	1984
38	Clinical confusion of the Noonan syndrome with the Börjeson-Forssman-Lehmann syndrome. ( 6492141 )	Preus M	1984
39	Börjeson-Forssman-Lehmann syndrome: further delineation in five cases. ( 6517094 )	Ardinger HH...Zellweger HU	1984
40	The Börjeson-Forssman-Lehmann syndrome. ( 6683929 )	Robinson LK...Jones KL	1983
41	The Börjeson-Forssman-Lehmann syndrome: a new case. ( 537034 )	Veall RM...Stephens R	1979
42	Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome. ( 564968 )	Weber FT...Felman AH	1978
43	An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder. ( 13871358 )	BORJESON M...LEHMANN O	1962

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Genes for Borjeson-Forssman-Lehmann Syndrome

Genes related to Borjeson-Forssman-Lehmann Syndrome (1 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PHF6	PHD Finger Protein 6	Protein Coding	1722.12	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications Gene name Summaries Variants (show sections)	12415272 13871358 15241480 (more) 15466013 15994862 23906836 15994862 14756673 15580208 12415272
2	SOX3	SRY-Box 3	Protein Coding	23.12	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
3	FGF13	Fibroblast Growth Factor 13	Protein Coding	18.73	GeneCards inferred via : Summaries (show sections)
4	HESX1	HESX Homeobox 1	Protein Coding	17.8	GeneCards inferred via : Publications (show sections)
5	LHX3	LIM Homeobox 3	Protein Coding	17.8	GeneCards inferred via : Publications (show sections)
6	LHX4	LIM Homeobox 4	Protein Coding	17.8	GeneCards inferred via : Publications (show sections)
7	PROP1	PROP Paired-Like Homeobox 1	Protein Coding	17.8	GeneCards inferred via : Publications (show sections)
8	POU1F1	POU Class 1 Homeobox 1	Protein Coding	17.8	GeneCards inferred via : Publications (show sections)
9	SMARCE1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily E, Member 1	Protein Coding	15.66	DISEASES inferred ¹⁵
10	ARID1B	AT-Rich Interaction Domain 1B	Protein Coding	15.15	DISEASES inferred ¹⁵
11	SMARCA2	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2	Protein Coding	14.8	DISEASES inferred ¹⁵
12	BANF1	Barrier To Autointegration Factor 1	Protein Coding	14.79	DISEASES inferred ¹⁵
13	FLNA	Filamin A	Protein Coding	14.54	DISEASES inferred ¹⁵
14	SMARCA4	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4	Protein Coding	14.27	DISEASES inferred ¹⁵
15	ARID1A	AT-Rich Interaction Domain 1A	Protein Coding	14.23	DISEASES inferred ¹⁵
16	SMARCB1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1	Protein Coding	14.08	DISEASES inferred ¹⁵
17	ERVW-1	Endogenous Retrovirus Group W Member 1, Envelope	Protein Coding	3.92	DISEASES inferred ¹⁵

Sources

Variations for Borjeson-Forssman-Lehmann Syndrome

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

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	PHF6	p.Cys45Tyr	VAR_017633	rs132630299
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 40)

#	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.1024C> T (p.Arg342Ter)	single nucleotide variant	Pathogenic	rs132630297	GRCh38	Chromosome X, 134425256: 134425256
3	PHF6	NM_001015877.1(PHF6): c.296G> T (p.Cys99Phe)	single nucleotide variant	Pathogenic	rs132630298	GRCh37	Chromosome X, 133527586: 133527586
4	PHF6	NM_001015877.1(PHF6): c.296G> T (p.Cys99Phe)	single nucleotide variant	Pathogenic	rs132630298	GRCh38	Chromosome X, 134393556: 134393556
5	PHF6	NM_001015877.1(PHF6): c.700A> G (p.Lys234Glu)	single nucleotide variant	Pathogenic	rs104894917	GRCh37	Chromosome X, 133547967: 133547967
6	PHF6	NM_001015877.1(PHF6): c.700A> G (p.Lys234Glu)	single nucleotide variant	Pathogenic	rs104894917	GRCh38	Chromosome X, 134413937: 134413937
7	PHF6	NM_001015877.1(PHF6): c.134G> A (p.Cys45Tyr)	single nucleotide variant	Pathogenic	rs132630299	GRCh37	Chromosome X, 133511781: 133511781
8	PHF6	NM_001015877.1(PHF6): c.134G> A (p.Cys45Tyr)	single nucleotide variant	Pathogenic	rs132630299	GRCh38	Chromosome X, 134377751: 134377751
9	PHF6	NM_001015877.1(PHF6): c.686A> G (p.His229Arg)	single nucleotide variant	Pathogenic	rs104894918	GRCh37	Chromosome X, 133547953: 133547953
10	PHF6	NM_001015877.1(PHF6): c.686A> G (p.His229Arg)	single nucleotide variant	Pathogenic	rs104894918	GRCh38	Chromosome X, 134413923: 134413923
11	PHF6	NM_032458.2(PHF6): c.2T> C (p.Met1Thr)	single nucleotide variant	Likely pathogenic	rs132630300	GRCh37	Chromosome X, 133511649: 133511649
12	PHF6	NM_032458.2(PHF6): c.2T> C (p.Met1Thr)	single nucleotide variant	Likely pathogenic	rs132630300	GRCh38	Chromosome X, 134377619: 134377619
13	PHF6	NM_001015877.1(PHF6): c.769A> G (p.Arg257Gly)	single nucleotide variant	Pathogenic	rs104894919	GRCh37	Chromosome X, 133549085: 133549085
14	PHF6	NM_001015877.1(PHF6): c.769A> G (p.Arg257Gly)	single nucleotide variant	Pathogenic	rs104894919	GRCh38	Chromosome X, 134415055: 134415055
15	PHF6	NM_001015877.1(PHF6): c.22A> T (p.Lys8Ter)	single nucleotide variant	Pathogenic	rs132630301	GRCh37	Chromosome X, 133511669: 133511669
16	PHF6	NM_001015877.1(PHF6): c.22A> T (p.Lys8Ter)	single nucleotide variant	Pathogenic	rs132630301	GRCh38	Chromosome X, 134377639: 134377639
17	PHF6	PHF6, IVS2AS, A-G, -8	single nucleotide variant	Pathogenic
18	PHF6	PHF6, 1-BP INS, 27A	insertion	Pathogenic
19	PHF6	NM_032458.2(PHF6): c.374+8T> C	single nucleotide variant	Benign	rs142596708	GRCh37	Chromosome X, 133527672: 133527672
20	PHF6	NM_032458.2(PHF6): c.374+8T> C	single nucleotide variant	Benign	rs142596708	GRCh38	Chromosome X, 134393642: 134393642
21	PHF6	NM_032458.2(PHF6): c.927C> T (p.Asp309=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs112199174	GRCh37	Chromosome X, 133551291: 133551291
22	PHF6	NM_032458.2(PHF6): c.927C> T (p.Asp309=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs112199174	GRCh38	Chromosome X, 134417261: 134417261
23	PHF6	NM_032458.2(PHF6): c.487C> T (p.Arg163Cys)	single nucleotide variant	Uncertain significance	rs199945885	GRCh37	Chromosome X, 133547589: 133547589
24	PHF6	NM_032458.2(PHF6): c.487C> T (p.Arg163Cys)	single nucleotide variant	Uncertain significance	rs199945885	GRCh38	Chromosome X, 134413559: 134413559
25	PHF6	NM_001015877.1(PHF6): c.914G> T (p.Cys305Phe)	single nucleotide variant	Pathogenic	rs587777489	GRCh37	Chromosome X, 133551278: 133551278
26	PHF6	NM_001015877.1(PHF6): c.914G> T (p.Cys305Phe)	single nucleotide variant	Pathogenic	rs587777489	GRCh38	Chromosome X, 134417248: 134417248
27	PHF6	NM_001015877.1(PHF6): c.418G> A (p.Ala140Thr)	single nucleotide variant	Pathogenic	rs864309532	GRCh37	Chromosome X, 133527982: 133527982
28	PHF6	NM_001015877.1(PHF6): c.418G> A (p.Ala140Thr)	single nucleotide variant	Pathogenic	rs864309532	GRCh38	Chromosome X, 134393952: 134393952
29	PHF6	NM_032335.3(PHF6): c.255C> A (p.Cys85Ter)	single nucleotide variant	Pathogenic	rs1114167289	GRCh37	Chromosome X, 133527545: 133527545
30	PHF6	NM_032335.3(PHF6): c.255C> A (p.Cys85Ter)	single nucleotide variant	Pathogenic	rs1114167289	GRCh38	Chromosome X, 134393515: 134393515
31	PHF6	NM_001015877.1(PHF6): c.113delA (p.Lys38Argfs)	deletion	Uncertain significance	rs1057519064	GRCh37	Chromosome X, 133511760: 133511760
32	PHF6	NM_001015877.1(PHF6): c.113delA (p.Lys38Argfs)	deletion	Uncertain significance	rs1057519064	GRCh38	Chromosome X, 134377730: 134377730
33	PHF6	NM_032458.2(PHF6): c.763_765delACA (p.Thr255del)	deletion	Likely pathogenic	rs1556019105	GRCh37	Chromosome X, 133549079: 133549081
34	PHF6	NM_032458.2(PHF6): c.763_765delACA (p.Thr255del)	deletion	Likely pathogenic	rs1556019105	GRCh38	Chromosome X, 134415049: 134415051
35	PHF6	NM_001015877.1(PHF6): c.673C> T (p.Arg225Ter)	single nucleotide variant	Pathogenic	rs1556018932	GRCh38	Chromosome X, 134413910: 134413910
36	PHF6	NM_001015877.1(PHF6): c.673C> T (p.Arg225Ter)	single nucleotide variant	Pathogenic	rs1556018932	GRCh37	Chromosome X, 133547940: 133547940
37	PHF6	NM_032335.3(PHF6): c.27_28insGG (p.Pro11Glyfs)	insertion	Pathogenic	rs1556013203	GRCh37	Chromosome X, 133511674: 133511675
38	PHF6	NM_032335.3(PHF6): c.27_28insGG (p.Pro11Glyfs)	insertion	Pathogenic	rs1556013203	GRCh38	Chromosome X, 134377644: 134377645
39	PHF6	NM_001015877.1(PHF6): c.65C> A (p.Ser22Ter)	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome X, 134377682: 134377682
40	PHF6	NM_001015877.1(PHF6): c.65C> A (p.Ser22Ter)	single nucleotide variant	Likely pathogenic		GRCh37	Chromosome X, 133511712: 133511712

Sources

Expression for Borjeson-Forssman-Lehmann Syndrome

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

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Pathways for Borjeson-Forssman-Lehmann Syndrome

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

#	Super pathways	Score	Top Affiliating Genes
1	Chromatin organization ⁶⁷ Show member pathways Chromatin modifying enzymes ⁶⁷ HATs acetylate histones ⁶⁷	12.58	ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCE1
2	Gastric cancer ³⁸ Show member pathways Breast cancer ³⁸ Hepatocellular carcinoma ³⁸	12.3	ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCE1
3	Chromatin Regulation / Acetylation ⁴	12.08	ARID1A SMARCA2 SMARCA4 SMARCB1
4	AMPK Enzyme Complex Pathway ⁶⁵ Show member pathways Chromatin Remodeling ⁶⁵ mitochondrial L-carnitine shuttle ¹	11.59	ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCE1
5	BRCA1 Pathway ⁶⁵ Show member pathways Fanconi's Anaemia Pathway ⁶⁵	11.5	SMARCA2 SMARCA4 SMARCB1
6	Pathways Affected in Adenoid Cystic Carcinoma ¹	11.32	ARID1A SMARCA2 SMARCE1
7	Transcription Ligand-dependent activation of the ESR1/SP pathway ²³ Show member pathways Development Ligand-dependent activation of the ESR1/AP-1 pathway ²³	10.95	ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCE1

Sources

GO Terms for Borjeson-Forssman-Lehmann Syndrome

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

#	Name	GO ID	Score	Top Affiliating Genes
1	nuclear chromatin	GO:0000790	9.72	ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCE1
2	npBAF complex	GO:0071564	9.55	ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCE1
3	SWI/SNF complex	GO:0016514	9.43	ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCE1
4	SWI/SNF superfamily-type complex	GO:0070603	9.37	ARID1A ARID1B
5	nBAF complex	GO:0071565	9.1	ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCE1
6	nucleus	GO:0005634	10.16	ARID1A ARID1B BANF1 FGF13 FLNA HESX1
7	nucleoplasm	GO:0005654	10.06	ARID1A ARID1B BANF1 PHF6 SMARCA2 SMARCA4

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

(show all 22)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of transcription, DNA-templated	GO:0045893	9.97	ARID1A LHX3 POU1F1 SMARCA2 SMARCA4
2	regulation of transcription by RNA polymerase II	GO:0006357	9.97	ARID1A ARID1B HESX1 SMARCA2 SMARCA4 SMARCB1
3	chromatin organization	GO:0006325	9.88	ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1
4	nervous system development	GO:0007399	9.87	ARID1A ARID1B FGF13 SMARCA2 SMARCA4 SMARCB1
5	animal organ morphogenesis	GO:0009887	9.77	LHX3 LHX4 PROP1
6	motor neuron axon guidance	GO:0008045	9.61	LHX3 LHX4
7	positive regulation by host of viral transcription	GO:0043923	9.59	SMARCA4 SMARCB1
8	DNA integration	GO:0015074	9.58	BANF1 SMARCB1
9	positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	GO:1901838	9.57	SMARCA4 SMARCB1
10	adenohypophysis development	GO:0021984	9.56	POU1F1 PROP1
11	pituitary gland development	GO:0021983	9.56	HESX1 LHX3 POU1F1 SOX3
12	chromatin-mediated maintenance of transcription	GO:0048096	9.55	ARID1A ARID1B
13	RNA polymerase I preinitiation complex assembly	GO:0001188	9.54	SMARCA4 SMARCB1
14	somatotropin secreting cell differentiation	GO:0060126	9.49	POU1F1 PROP1
15	nucleosome disassembly	GO:0006337	9.46	ARID1A SMARCA4 SMARCB1 SMARCE1
16	positive regulation of glucose mediated signaling pathway	GO:1902661	9.43	SMARCA4 SMARCB1
17	chromatin remodeling	GO:0006338	9.43	ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCE1
18	medial motor column neuron differentiation	GO:0021526	9.4	LHX3 LHX4
19	ATP-dependent chromatin remodeling	GO:0043044	9.02	ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCE1
20	regulation of transcription, DNA-templated	GO:0006355	10.06	HESX1 LHX3 LHX4 POU1F1 PROP1 SMARCA2
21	positive regulation of transcription by RNA polymerase II	GO:0045944	10.05	LHX3 LHX4 POU1F1 PROP1 SMARCA2 SMARCA4
22	negative regulation of transcription by RNA polymerase II	GO:0000122	10	ARID1A PHF6 POU1F1 PROP1 SMARCA2 SMARCA4

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

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	sequence-specific DNA binding	GO:0043565	9.88	HESX1 LHX3 LHX4 PHF6 POU1F1 PROP1
2	chromatin binding	GO:0003682	9.83	HESX1 POU1F1 PROP1 SMARCA2 SMARCE1
3	DNA-binding transcription factor activity, RNA polymerase II-specific	GO:0000981	9.81	ARID1A ARID1B HESX1 LHX3 LHX4 POU1F1
4	RNA polymerase II proximal promoter sequence-specific DNA binding	GO:0000978	9.73	HESX1 LHX3 POU1F1 SMARCA4 SMARCB1 SMARCE1
5	histone binding	GO:0042393	9.7	PHF6 SMARCA2 SMARCA4
6	protein N-terminus binding	GO:0047485	9.67	BANF1 HESX1 SMARCA4 SMARCE1
7	nucleosomal DNA binding	GO:0031492	9.63	SMARCA4 SMARCB1 SMARCE1
8	RNA polymerase II distal enhancer sequence-specific DNA binding	GO:0000980	9.62	PROP1 SMARCA4 SMARCB1 SMARCE1
9	nuclear receptor binding	GO:0016922	9.54	ARID1A SMARCE1
10	Tat protein binding	GO:0030957	9.51	SMARCA4 SMARCB1
11	hydrolase activity, acting on acid anhydrides	GO:0016817	9.49	SMARCA2 SMARCA4
12	RNA polymerase I CORE element sequence-specific DNA binding	GO:0001164	9.48	SMARCA4 SMARCB1
13	DNA binding	GO:0003677	9.44	ARID1A ARID1B BANF1 HESX1 LHX3 LHX4
14	transcription coactivator activity	GO:0003713	9.43	ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCE1

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⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Borjeson-Forssman-Lehmann Syndrome (BFLS)

Aliases & Classifications for Borjeson-Forssman-Lehmann Syndrome

MalaCards integrated aliases for Borjeson-Forssman-Lehmann Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Borjeson-Forssman-Lehmann Syndrome

Related Diseases for Borjeson-Forssman-Lehmann Syndrome

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

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

Symptoms & Phenotypes for Borjeson-Forssman-Lehmann Syndrome

Human phenotypes related to Borjeson-Forssman-Lehmann Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Borjeson-Forssman-Lehmann Syndrome:

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

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

Drugs & Therapeutics for Borjeson-Forssman-Lehmann Syndrome

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Genetic Tests for Borjeson-Forssman-Lehmann Syndrome

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Anatomical Context for Borjeson-Forssman-Lehmann Syndrome

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Variations for Borjeson-Forssman-Lehmann Syndrome

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

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Expression for Borjeson-Forssman-Lehmann Syndrome

Pathways for Borjeson-Forssman-Lehmann Syndrome

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

GO Terms for Borjeson-Forssman-Lehmann Syndrome

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

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

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

Sources for Borjeson-Forssman-Lehmann Syndrome