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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
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Aliases & Classifications for Borjeson-Forssman-Lehmann Syndrome

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MalaCards integrated aliases for Borjeson-Forssman-Lehmann Syndrome:

Name: Borjeson-Forssman-Lehmann Syndrome 57 12 53 59 37 29 13 55 6 44 15 40 73
Bfls 57 12 53 59 75
Borj 57 12 53 75
Borjeson Syndrome 57 12 53
Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome 12 53
Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome 53 59
Mrxsbfl 57 12
Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type; Mrxsbfl 57
Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type 57
Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type 12
Mental Retardation, Epilepsy, and Endocrine Disorders 57
Mental Retardation, Epilepsy, and Endocrine Disorder 12
Mental Deficiency, Epilepsy and Endocrine Disorders 53
Mental Deficiency-Epilepsy- Endocrine Disorders 75
Boerjeson-Forssman-Lehmann Syndrome 75
Borjeson-Forssman Syndrome 75
Borjeson Syndrome; Borj 57

Characteristics:

Orphanet epidemiological data:

59
borjeson-forssman-lehmann syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
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:

32
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: 34
Orphanet: 59  
Rare neurological diseases
Rare eye diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


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Summaries for Borjeson-Forssman-Lehmann Syndrome

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NIH Rare Diseases : 53 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 eye, prostate and bone, and related phenotypes are macrocephaly and ptosis

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 : 75 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
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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 31)
# Related Disease Score Top Affiliating Genes
1 male pseudohermaphroditism intellectual disability syndrome, verloes type 11.8
2 bird fancier's lung 11.4
3 dilated cardiomyopathy 10.5
4 hypogonadism 10.5
5 isolated growth hormone deficiency type iii 10.2 HESX1 SOX3
6 neonatal thyrotoxicosis 10.2 LHX3 PROP1
7 nicolaides-baraitser syndrome 10.1 ARID1B SMARCA2
8 hypothyroidism 10.0 HESX1 LHX3 POU1F1 PROP1
9 alpha thalassemia-x-linked intellectual disability syndrome 10.0 SMARCA2 SMARCA4
10 pituitary stalk interruption syndrome 10.0 HESX1 LHX4 POU1F1 SOX3
11 pituitary hormone deficiency, combined, 1 10.0 HESX1 LHX3 LHX4 POU1F1
12 enamel erosion 10.0 SMARCA2 SMARCA4
13 combined pituitary hormone deficiencies, genetic forms 10.0 HESX1 LHX4 POU1F1 PROP1
14 isolated growth hormone deficiency 10.0 HESX1 POU1F1 PROP1 SOX3
15 pituitary gland disease 10.0 HESX1 LHX3 POU1F1 PROP1
16 root caries 10.0 SMARCA2 SMARCA4
17 tooth erosion 10.0 SMARCA2 SMARCA4
18 schimke immunoosseous dysplasia 10.0 SMARCA2 SMARCA4
19 pituitary hypoplasia 10.0 HESX1 LHX3 LHX4 POU1F1 SOX3
20 hypothyroidism due to deficient transcription factors involved in pituitary development or function 10.0 HESX1 LHX3 LHX4 POU1F1 PROP1
21 combined pituitary hormone deficiency 9.9 HESX1 LHX3 LHX4 POU1F1 PROP1
22 central nervous system sarcoma 9.9 SMARCA4 SMARCB1
23 septooptic dysplasia 9.9 HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
24 pituitary hormone deficiency, combined, 2 9.9 HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
25 hypopituitarism 9.9 HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
26 rhabdoid cancer 9.8 SMARCA4 SMARCB1
27 neurilemmomatosis 9.8 SMARCB1 SMARCE1
28 tumor predisposition syndrome 9.8 SMARCA4 SMARCB1
29 hypertrichosis 9.4 ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1
30 coffin-siris syndrome 1 9.1 ARID1A ARID1B BANF1 PHF6 SMARCA2 SMARCA4
31 autosomal dominant non-syndromic intellectual disability 9.1 ARID1A ARID1B BANF1 PHF6 SMARCA2 SMARCA4

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



Diseases related to Borjeson-Forssman-Lehmann Syndrome
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Symptoms & Phenotypes for Borjeson-Forssman-Lehmann Syndrome

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Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
nystagmus
deep-set eyes
poor vision
narrow palpebral fissures

Skeletal Spine:
kyphosis
mild scoliosis
narrow cervical spinal canal
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

Human phenotypes related to Borjeson-Forssman-Lehmann Syndrome:

59 32 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
3 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
4 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
5 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
6 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
7 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
8 prominent supraorbital ridges 59 32 frequent (33%) Frequent (79-30%) HP:0000336
9 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
10 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
11 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
12 thick eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0000574
13 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
14 feeding difficulties in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0008872
15 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
16 peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009830
17 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
18 abnormality of the hip bone 59 32 occasional (7.5%) Occasional (29-5%) HP:0003272
19 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
20 short toe 59 32 hallmark (90%) Very frequent (99-80%) HP:0001831
21 hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000135
22 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
23 decreased testicular size 59 32 hallmark (90%) Very frequent (99-80%) HP:0008734
24 hypoplasia of penis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008736
25 blepharophimosis 59 32 frequent (33%) Frequent (79-30%) HP:0000581
26 gynecomastia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000771
27 large earlobe 59 32 hallmark (90%) Very frequent (99-80%) HP:0009748
28 tapered finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0001182
29 sparse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0008070
30 oral cleft 59 32 occasional (7.5%) Occasional (29-5%) HP:0000202
31 scrotal hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000046
32 truncal obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001956
33 broad foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001769
34 camptodactyly of toe 59 32 hallmark (90%) 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 generalized hypotonia 32 HP:0001290
46 shortening of all middle phalanges of the fingers 32 HP:0006110
47 cervical spinal canal stenosis 32 HP:0008445
48 narrow palpebral fissure 32 HP:0045025
49 scheuermann-like vertebral changes 32 HP:0008478
50 widely spaced toes 32 HP:0008094

UMLS symptoms related to Borjeson-Forssman-Lehmann Syndrome:


seizures

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

26
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.06 ARID1A ARID1B FLNA HESX1 LHX3 POU1F1
2 mortality/aging MP:0010768 10.03 ARID1A ARID1B FGF13 FLNA HESX1 LHX3
3 endocrine/exocrine gland MP:0005379 10.02 ARID1A HESX1 LHX3 LHX4 POU1F1 PROP1
4 homeostasis/metabolism MP:0005376 10 ARID1A ARID1B FLNA LHX3 LHX4 POU1F1
5 craniofacial MP:0005382 9.95 ARID1A FLNA HESX1 LHX3 POU1F1 SMARCA4
6 nervous system MP:0003631 9.73 ARID1A ARID1B FGF13 FLNA HESX1 LHX3
7 reproductive system MP:0005389 9.23 ARID1A FLNA LHX3 POU1F1 PROP1 SMARCA2
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Drugs & Therapeutics for Borjeson-Forssman-Lehmann Syndrome

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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

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Genetic tests related to Borjeson-Forssman-Lehmann Syndrome:

# Genetic test Affiliating Genes
1 Borjeson-Forssman-Lehmann Syndrome 29 PHF6
Sources

Anatomical Context for Borjeson-Forssman-Lehmann Syndrome

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

41
Eye, Prostate, Bone, Testes, Skeletal Muscle, Pituitary, Lung
Sources

Publications for Borjeson-Forssman-Lehmann Syndrome

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Articles related to Borjeson-Forssman-Lehmann Syndrome:

(show all 17)
# Title Authors Year
1
Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome. ( 30403997 )
2018
2
Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome. ( 28237832 )
2017
3
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. ( 24092917 )
2013
4
PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females. ( 22190899 )
2011
5
Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. ( 15994862 )
2006
6
Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6. ( 15580208 )
2004
7
The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. ( 14756673 )
2004
8
Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency. ( 14714754 )
2003
9
Borjeson-Forssman-Lehmann syndrome and dilated cardiomyopathy: a previously unreported association. ( 11173318 )
2001
10
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
11
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
12
Borjeson-Forssman-Lehmann syndrome: two severely handicapped females in a family. ( 9213062 )
1997
13
Gene localization in Börjeson-Forssman-Lehmann syndrome and other X-linked mental retardation syndromes. ( 2018066 )
1991
14
Linkage localization of Börjeson-Forssman-Lehmann syndrome. ( 2624254 )
1989
15
The Borjeson-Forssman-Lehmann syndrome. A family study. ( 3720009 )
1986
16
Borjeson-Forssman-Lehmann syndrome in a girl. ( 6439922 )
1984
17
Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome. ( 564968 )
1978
Sources

Variations for Borjeson-Forssman-Lehmann Syndrome

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

75
# 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 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 PHF6 PHF6, IVS2AS, A-G, -8 single nucleotide variant Pathogenic
2 PHF6 NM_001015877.1(PHF6): c.1024C> T (p.Arg342Ter) single nucleotide variant Pathogenic rs132630297 GRCh37 Chromosome X, 133559286: 133559286
3 PHF6 NM_001015877.1(PHF6): c.1024C> T (p.Arg342Ter) single nucleotide variant Pathogenic rs132630297 GRCh38 Chromosome X, 134425256: 134425256
4 PHF6 NM_001015877.1(PHF6): c.296G> T (p.Cys99Phe) single nucleotide variant Pathogenic rs132630298 GRCh37 Chromosome X, 133527586: 133527586
5 PHF6 NM_001015877.1(PHF6): c.296G> T (p.Cys99Phe) single nucleotide variant Pathogenic rs132630298 GRCh38 Chromosome X, 134393556: 134393556
6 PHF6 NM_001015877.1(PHF6): c.700A> G (p.Lys234Glu) single nucleotide variant Pathogenic rs104894917 GRCh37 Chromosome X, 133547967: 133547967
7 PHF6 NM_001015877.1(PHF6): c.700A> G (p.Lys234Glu) single nucleotide variant Pathogenic rs104894917 GRCh38 Chromosome X, 134413937: 134413937
8 PHF6 NM_001015877.1(PHF6): c.134G> A (p.Cys45Tyr) single nucleotide variant Pathogenic rs132630299 GRCh37 Chromosome X, 133511781: 133511781
9 PHF6 NM_001015877.1(PHF6): c.134G> A (p.Cys45Tyr) single nucleotide variant Pathogenic rs132630299 GRCh38 Chromosome X, 134377751: 134377751
10 PHF6 NM_001015877.1(PHF6): c.686A> G (p.His229Arg) single nucleotide variant Pathogenic rs104894918 GRCh37 Chromosome X, 133547953: 133547953
11 PHF6 NM_001015877.1(PHF6): c.686A> G (p.His229Arg) single nucleotide variant Pathogenic rs104894918 GRCh38 Chromosome X, 134413923: 134413923
12 PHF6 NM_032458.2(PHF6): c.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic rs132630300 GRCh37 Chromosome X, 133511649: 133511649
13 PHF6 NM_032458.2(PHF6): c.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic rs132630300 GRCh38 Chromosome X, 134377619: 134377619
14 PHF6 NM_001015877.1(PHF6): c.769A> G (p.Arg257Gly) single nucleotide variant Pathogenic rs104894919 GRCh37 Chromosome X, 133549085: 133549085
15 PHF6 NM_001015877.1(PHF6): c.769A> G (p.Arg257Gly) single nucleotide variant Pathogenic rs104894919 GRCh38 Chromosome X, 134415055: 134415055
16 PHF6 NM_001015877.1(PHF6): c.22A> T (p.Lys8Ter) single nucleotide variant Pathogenic rs132630301 GRCh37 Chromosome X, 133511669: 133511669
17 PHF6 NM_001015877.1(PHF6): c.22A> T (p.Lys8Ter) single nucleotide variant Pathogenic rs132630301 GRCh38 Chromosome X, 134377639: 134377639
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 GRCh37 Chromosome X, 133549079: 133549081
34 PHF6 NM_032458.2(PHF6): c.763_765delACA (p.Thr255del) deletion Likely pathogenic GRCh38 Chromosome X, 134415049: 134415051
35 PHF6 NM_001015877.1(PHF6): c.673C> T (p.Arg225Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 134413910: 134413910
36 PHF6 NM_001015877.1(PHF6): c.673C> T (p.Arg225Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 133547940: 133547940
37 PHF6 NM_032335.3(PHF6): c.27_28insGG (p.Pro11Glyfs) insertion Pathogenic GRCh37 Chromosome X, 133511674: 133511675
38 PHF6 NM_032335.3(PHF6): c.27_28insGG (p.Pro11Glyfs) insertion Pathogenic GRCh38 Chromosome X, 134377644: 134377645
Sources

Expression for Borjeson-Forssman-Lehmann Syndrome

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

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

# Super pathways Score Top Affiliating Genes
1
Chromatin organization 66
Show member pathways
 12.58 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCE1
2
Gastric cancer 37
Show member pathways
 12.3 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCE1
3
Chromatin Regulation / Acetylation 4
12.08 ARID1A SMARCA2 SMARCA4 SMARCB1
4
AMPK Enzyme Complex Pathway 64
Show member pathways
 11.59 ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCE1
5
BRCA1 Pathway 64
Show member pathways
 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 22
Show member pathways
 10.95 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCE1
Sources

GO Terms for Borjeson-Forssman-Lehmann Syndrome

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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 9.98 ARID1A LHX3 POU1F1 SMARCA2 SMARCA4
2 chromatin organization GO:0006325 9.88 ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1
3 nervous system development GO:0007399 9.87 ARID1A ARID1B FGF13 SMARCA2 SMARCA4 SMARCB1
4 animal organ morphogenesis GO:0009887 9.77 LHX3 LHX4 PROP1
5 motor neuron axon guidance GO:0008045 9.61 LHX3 LHX4
6 positive regulation by host of viral transcription GO:0043923 9.59 SMARCA4 SMARCB1
7 DNA integration GO:0015074 9.58 BANF1 SMARCB1
8 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.57 SMARCA4 SMARCB1
9 adenohypophysis development GO:0021984 9.56 POU1F1 PROP1
10 pituitary gland development GO:0021983 9.56 HESX1 LHX3 POU1F1 SOX3
11 chromatin-mediated maintenance of transcription GO:0048096 9.55 ARID1A ARID1B
12 RNA polymerase I preinitiation complex assembly GO:0001188 9.54 SMARCA4 SMARCB1
13 somatotropin secreting cell differentiation GO:0060126 9.46 POU1F1 PROP1
14 nucleosome disassembly GO:0006337 9.46 ARID1A SMARCA4 SMARCB1 SMARCE1
15 positive regulation of glucose mediated signaling pathway GO:1902661 9.43 SMARCA4 SMARCB1
16 chromatin remodeling GO:0006338 9.43 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCE1
17 medial motor column neuron differentiation GO:0021526 9.37 LHX3 LHX4
18 ATP-dependent chromatin remodeling GO:0043044 9.02 ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCE1
19 regulation of transcription, DNA-templated GO:0006355 10.1 HESX1 LHX3 LHX4 POU1F1 PROP1 SMARCA2
20 positive regulation of transcription by RNA polymerase II GO:0045944 10.05 LHX3 LHX4 POU1F1 PROP1 SMARCA2 SMARCA4
21 regulation of transcription by RNA polymerase II GO:0006357 10.01 ARID1A ARID1B HESX1 SMARCA2 SMARCA4 SMARCB1
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 transcription coactivator activity GO:0003713 9.5 ARID1A ARID1B POU1F1 SMARCA2 SMARCA4 SMARCB1
12 hydrolase activity, acting on acid anhydrides GO:0016817 9.49 SMARCA2 SMARCA4
13 RNA polymerase I CORE element sequence-specific DNA binding GO:0001164 9.48 SMARCA4 SMARCB1
14 DNA binding GO:0003677 9.44 ARID1A ARID1B BANF1 HESX1 LHX3 LHX4
Sources

Sources for Borjeson-Forssman-Lehmann Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
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33 ICD10
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