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

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:



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 eye, prostate 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

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 34)
# 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 isolated growth hormone deficiency type iii 10.3 HESX1 SOX3
6 neonatal thyrotoxicosis 10.3 LHX3 PROP1
7 nicolaides-baraitser syndrome 10.2 ARID1B SMARCA2
8 alpha thalassemia-x-linked intellectual disability syndrome 10.1 SMARCA2 SMARCA4
9 enamel erosion 10.1 SMARCA2 SMARCA4
10 root caries 10.1 SMARCA2 SMARCA4
11 hypothyroidism 10.0 HESX1 LHX3 POU1F1 PROP1
12 tooth erosion 10.0 SMARCA2 SMARCA4
13 pituitary stalk interruption syndrome 10.0 HESX1 LHX4 POU1F1 SOX3
14 schimke immunoosseous dysplasia 10.0 SMARCA2 SMARCA4
15 pituitary hormone deficiency, combined, 1 10.0 HESX1 LHX3 LHX4 POU1F1
16 isolated growth hormone deficiency 10.0 HESX1 POU1F1 PROP1 SOX3
17 combined pituitary hormone deficiencies, genetic forms 10.0 HESX1 LHX4 POU1F1 PROP1
18 pituitary gland disease 10.0 HESX1 LHX3 POU1F1 PROP1
19 kallmann syndrome 9.9 HESX1 LHX3 PROP1
20 hypothyroidism, congenital, nongoitrous, 4 9.9 POU1F1 PROP1
21 gingival disease 9.9 SMARCA2 SMARCA4
22 pituitary hypoplasia 9.9 HESX1 LHX3 LHX4 POU1F1 SOX3
23 hypothyroidism due to deficient transcription factors involved in pituitary development or function 9.9 HESX1 LHX3 LHX4 POU1F1 PROP1
24 combined pituitary hormone deficiency 9.9 HESX1 LHX3 LHX4 POU1F1 PROP1
25 central nervous system sarcoma 9.8 SMARCA4 SMARCB1
26 neurilemmomatosis 9.8 SMARCB1 SMARCE1
27 rhabdoid cancer 9.8 SMARCA4 SMARCB1
28 septooptic dysplasia 9.8 HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
29 pituitary hormone deficiency, combined, 2 9.7 HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
30 hypopituitarism 9.7 HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
31 tumor predisposition syndrome 9.7 SMARCA4 SMARCB1
32 hypertrichosis 9.1 ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1
33 coffin-siris syndrome 1 8.6 ARID1A ARID1B BANF1 PHF6 SMARCA2 SMARCA4
34 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:



Diseases related to Borjeson-Forssman-Lehmann Syndrome

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
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

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

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:

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

Anatomical Context for Borjeson-Forssman-Lehmann Syndrome

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

42
Eye, Prostate, Bone, Testes, Skeletal Muscle, Pituitary

Publications for Borjeson-Forssman-Lehmann Syndrome

Articles related to Borjeson-Forssman-Lehmann Syndrome:

(show all 15)
# Title Authors Year
1
A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome. ( 30630810 )
2019
2
Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome. ( 30403997 )
2018
3
Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome. ( 28237832 )
2017
4
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. ( 24092917 )
2013
5
PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females. ( 22190899 )
2011
6
Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. ( 15994862 )
2006
7
Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6. ( 15580208 )
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
The Borjeson-Forssman-Lehmann syndrome. A family study. ( 3720009 )
1986
14
Borjeson-Forssman-Lehmann syndrome in a girl. ( 6439922 )
1984
15
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:

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.418G> A (p.Ala140Thr) single nucleotide variant Pathogenic rs864309532 GRCh37 Chromosome X, 133527982: 133527982
2 PHF6 NM_001015877.1(PHF6): c.418G> A (p.Ala140Thr) single nucleotide variant Pathogenic rs864309532 GRCh38 Chromosome X, 134393952: 134393952
3 PHF6 NM_001015877.1(PHF6): c.1024C> T (p.Arg342Ter) single nucleotide variant Pathogenic rs132630297 GRCh37 Chromosome X, 133559286: 133559286
4 PHF6 NM_001015877.1(PHF6): c.1024C> T (p.Arg342Ter) single nucleotide variant Pathogenic rs132630297 GRCh38 Chromosome X, 134425256: 134425256
5 PHF6 NM_001015877.1(PHF6): c.296G> T (p.Cys99Phe) single nucleotide variant Pathogenic rs132630298 GRCh37 Chromosome X, 133527586: 133527586
6 PHF6 NM_001015877.1(PHF6): c.296G> T (p.Cys99Phe) single nucleotide variant Pathogenic rs132630298 GRCh38 Chromosome X, 134393556: 134393556
7 PHF6 NM_001015877.1(PHF6): c.700A> G (p.Lys234Glu) single nucleotide variant Pathogenic rs104894917 GRCh37 Chromosome X, 133547967: 133547967
8 PHF6 NM_001015877.1(PHF6): c.700A> G (p.Lys234Glu) single nucleotide variant Pathogenic rs104894917 GRCh38 Chromosome X, 134413937: 134413937
9 PHF6 NM_001015877.1(PHF6): c.134G> A (p.Cys45Tyr) single nucleotide variant Pathogenic rs132630299 GRCh37 Chromosome X, 133511781: 133511781
10 PHF6 NM_001015877.1(PHF6): c.134G> A (p.Cys45Tyr) single nucleotide variant Pathogenic rs132630299 GRCh38 Chromosome X, 134377751: 134377751
11 PHF6 NM_001015877.1(PHF6): c.686A> G (p.His229Arg) single nucleotide variant Pathogenic rs104894918 GRCh37 Chromosome X, 133547953: 133547953
12 PHF6 NM_001015877.1(PHF6): c.686A> G (p.His229Arg) single nucleotide variant Pathogenic rs104894918 GRCh38 Chromosome X, 134413923: 134413923
13 PHF6 NM_032458.2(PHF6): c.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic rs132630300 GRCh37 Chromosome X, 133511649: 133511649
14 PHF6 NM_032458.2(PHF6): c.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic rs132630300 GRCh38 Chromosome X, 134377619: 134377619
15 PHF6 NM_001015877.1(PHF6): c.769A> G (p.Arg257Gly) single nucleotide variant Pathogenic rs104894919 GRCh37 Chromosome X, 133549085: 133549085
16 PHF6 NM_001015877.1(PHF6): c.769A> G (p.Arg257Gly) single nucleotide variant Pathogenic rs104894919 GRCh38 Chromosome X, 134415055: 134415055
17 PHF6 NM_001015877.1(PHF6): c.22A> T (p.Lys8Ter) single nucleotide variant Pathogenic rs132630301 GRCh37 Chromosome X, 133511669: 133511669
18 PHF6 NM_001015877.1(PHF6): c.22A> T (p.Lys8Ter) single nucleotide variant Pathogenic rs132630301 GRCh38 Chromosome X, 134377639: 134377639
19 PHF6 PHF6, IVS2AS, A-G, -8 single nucleotide variant Pathogenic
20 PHF6 PHF6, 1-BP INS, 27A insertion Pathogenic
21 PHF6 NM_032458.2(PHF6): c.374+8T> C single nucleotide variant Benign rs142596708 GRCh37 Chromosome X, 133527672: 133527672
22 PHF6 NM_032458.2(PHF6): c.374+8T> C single nucleotide variant Benign rs142596708 GRCh38 Chromosome X, 134393642: 134393642
23 PHF6 NM_032458.2(PHF6): c.927C> T (p.Asp309=) single nucleotide variant Conflicting interpretations of pathogenicity rs112199174 GRCh37 Chromosome X, 133551291: 133551291
24 PHF6 NM_032458.2(PHF6): c.927C> T (p.Asp309=) single nucleotide variant Conflicting interpretations of pathogenicity rs112199174 GRCh38 Chromosome X, 134417261: 134417261
25 PHF6 NM_032458.2(PHF6): c.487C> T (p.Arg163Cys) single nucleotide variant Uncertain significance rs199945885 GRCh37 Chromosome X, 133547589: 133547589
26 PHF6 NM_032458.2(PHF6): c.487C> T (p.Arg163Cys) single nucleotide variant Uncertain significance rs199945885 GRCh38 Chromosome X, 134413559: 134413559
27 PHF6 NM_001015877.1(PHF6): c.914G> T (p.Cys305Phe) single nucleotide variant Pathogenic rs587777489 GRCh37 Chromosome X, 133551278: 133551278
28 PHF6 NM_001015877.1(PHF6): c.914G> T (p.Cys305Phe) single nucleotide variant Pathogenic rs587777489 GRCh38 Chromosome X, 134417248: 134417248
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

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:

# 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

Sources for Borjeson-Forssman-Lehmann Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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63 PubMed
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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