BFLS
MCID: BRJ001
MIFTS: 52

Borjeson-Forssman-Lehmann Syndrome (BFLS)

Categories: Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Borjeson-Forssman-Lehmann Syndrome

MalaCards integrated aliases for Borjeson-Forssman-Lehmann Syndrome:

Name: Borjeson-Forssman-Lehmann Syndrome 57 11 19 58 28 12 53 5 43 14 38 71
Bfls 57 11 19 58 73
Borj 57 11 19 73
Borjeson Syndrome 57 11 19
Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome 11 19
Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome 19 58
Mrxsbfl 57 11
Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type 57
Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type 11
Mental Retardation, Epilepsy, and Endocrine Disorders 57
Mental Retardation, Epilepsy, and Endocrine Disorder 11
Mental Deficiency, Epilepsy and Endocrine Disorders 19
Mental Deficiency-Epilepsy- Endocrine Disorders 73
Boerjeson-Forssman-Lehmann Syndrome 73
Börjeson-Forssman-Lehmann Syndrome 75
Borjeson-Forssman Syndrome 73

Characteristics:


Inheritance:

X-linked recessive 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
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)


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Borjeson-Forssman-Lehmann Syndrome

OMIM®: 57 Borjeson-Forssman-Lehmann syndrome (BFLS) is an uncommon X-linked intellectual developmental disorder that evolves with age. Clinical manifestations in males are quite variable, with the most consistent features being initial hypotonia, mild to moderate impaired intellectual development, large fleshy ears, underdeveloped genitalia, gynecomastia, truncal obesity, tapering fingers, and shortening of the fourth and fifth toes. Heterozygous females may have a milder similar clinical phenotype, which can include hypothyroidism; however, many carrier females appear unaffected (summary by Crawford et al., 2006). (301900) (Updated 08-Dec-2022)

MalaCards based summary: Borjeson-Forssman-Lehmann Syndrome, also known as bfls, is related to brachydactyly and coffin-siris syndrome 1, 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 Organelle biogenesis and maintenance and Bardet-Biedl syndrome. Affiliated tissues include eye, prostate and skeletal muscle, and related phenotypes are intellectual disability and hypotonia

GARD: 19 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 genetic changes in the PHF6 gene on the X chromosome. This genetic change is usually transmitted as an X-linked recessive trait, which means the disorder is fully expressed predominantly in males.

Disease Ontology: 11 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: 73 An X-linked recessive disorder characterized by moderate to severe intellectual disability, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.

Orphanet: 58 Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.

Wikipedia: 75 Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare genetic disease that causes intellectual disability,... more...

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 top 50) (show all 104)
# Related Disease Score Top Affiliating Genes
1 brachydactyly 30.0 SMARCA2 BBS10 BBS1 ANKRD11
2 coffin-siris syndrome 1 29.3 UBE2A SMARCE1 SMARCA2 PHF6 BANF1 ANKRD11
3 microcephaly 10.5
4 hypogonadism 10.5
5 hypopituitarism 10.5
6 pigmentation anomaly of the skin 10.5
7 body mass index quantitative trait locus 11 10.5
8 leukemia, acute lymphoblastic 10.5
9 cerebellar atrophy, developmental delay, and seizures 10.5
10 t-cell acute lymphoblastic leukemia 10.5
11 hypotonia 10.5
12 brachydactyly, type a3 10.3
13 optic nerve hypoplasia, bilateral 10.3
14 prader-willi syndrome 10.3
15 hypothyroidism, congenital, nongoitrous, 1 10.3
16 band heterotopia 10.3
17 fanconi anemia, complementation group e 10.3
18 lissencephaly 1 10.3
19 myopathy, myofibrillar, 5 10.3
20 body dysmorphic disorder 10.3
21 myofibrillar myopathy 10.3
22 hypogonadotropic hypogonadism 10.3
23 gynecomastia 10.3
24 dilated cardiomyopathy 10.3
25 49, xxxxy syndrome 10.3
26 growth hormone deficiency 10.3
27 noonan syndrome 1 10.3
28 hydrocephalus, congenital, 1 10.3
29 ceroid lipofuscinosis, neuronal, 5 10.3
30 coffin-lowry syndrome 10.3
31 leukemia, acute myeloid 10.3
32 body mass index quantitative trait locus 9 10.3
33 body mass index quantitative trait locus 8 10.3
34 body mass index quantitative trait locus 4 10.3
35 body mass index quantitative trait locus 10 10.3
36 body mass index quantitative trait locus 7 10.3
37 body mass index quantitative trait locus 12 10.3
38 body mass index quantitative trait locus 14 10.3
39 body mass index quantitative trait locus 18 10.3
40 body mass index quantitative trait locus 19 10.3
41 body mass index quantitative trait locus 20 10.3
42 lymphoma 10.3
43 ptosis 10.3
44 leukemia 10.3
45 acute myeloid leukemia with recurrent genetic anomaly 10.3
46 aminoaciduria 10.3
47 precursor t-cell acute lymphoblastic leukemia 10.3
48 non-syndromic x-linked intellectual disability 90 10.3 ZNF81 ZNF41
49 non-syndromic x-linked intellectual disability 89 10.3 ZNF81 ZNF41
50 intellectual developmental disorder, autosomal dominant 4 10.3 ZNF81 ZNF41

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:

58 30 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 hypotonia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001252
3 coarse facial features 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000280
4 cryptorchidism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000028
5 short toe 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001831
6 hypoplasia of penis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008736
7 gynecomastia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000771
8 decreased testicular size 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008734
9 large earlobe 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009748
10 tapered finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001182
11 truncal obesity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001956
12 sparse hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008070
13 broad foot 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001769
14 hypogonadism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000135
15 camptodactyly of toe 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001836
16 small scrotum 30 Hallmark (90%) HP:0000046
17 ptosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000508
18 prominent supraorbital ridges 58 30 Frequent (33%) Frequent (79-30%)
HP:0000336
19 thick eyebrow 58 30 Frequent (33%) Frequent (79-30%)
HP:0000574
20 feeding difficulties in infancy 58 30 Frequent (33%) Frequent (79-30%)
HP:0008872
21 deeply set eye 58 30 Frequent (33%) Frequent (79-30%)
HP:0000490
22 blepharophimosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000581
23 macrocephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000256
24 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
25 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
26 hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000365
27 cataract 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000518
28 microcephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000252
29 short stature 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004322
30 skeletal muscle atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003202
31 joint hyperflexibility 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005692
32 peripheral neuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009830
33 oral cleft 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000202
34 abnormal hip bone morphology 30 Occasional (7.5%) HP:0003272
35 eeg abnormality 30 HP:0002353
36 scoliosis 30 HP:0002650
37 kyphosis 30 HP:0002808
38 macrotia 30 HP:0000400
39 thickened calvaria 30 HP:0002684
40 visual impairment 30 HP:0000505
41 delayed puberty 30 HP:0000823
42 intellectual disability, severe 30 HP:0010864
43 abnormality of the hip bone 58 Occasional (29-5%)
44 obesity 30 HP:0001513
45 micropenis 30 HP:0000054
46 scrotal hypoplasia 58 Very frequent (99-80%)
47 generalized hypotonia 30 HP:0001290
48 shortening of all middle phalanges of the fingers 30 HP:0006110
49 narrow palpebral fissure 30 HP:0045025
50 cervical spinal canal stenosis 30 HP:0008445

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
ptosis
nystagmus
deep-set eyes
poor vision
narrow palpebral fissures

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

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

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

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 (Updated 08-Dec-2022)

UMLS symptoms related to Borjeson-Forssman-Lehmann Syndrome:


seizures

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.1 ALMS1 ANKRD11 BBS1 BBS10 BBS12 BBS5
2 renal/urinary system MP:0005367 9.8 ALMS1 BBS1 BBS10 BBS12 BBS5 NEXMIF
3 growth/size/body region MP:0005378 9.73 ALMS1 ANKRD11 BBS1 BBS10 BBS12 BBS5
4 adipose tissue MP:0005375 9.7 ALMS1 BBS1 BBS10 BBS12 BBS5 NEXMIF
5 behavior/neurological MP:0005386 9.47 ALMS1 ANKRD11 BBS1 BBS10 BBS12 BBS5

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 28 PHF6

Anatomical Context for Borjeson-Forssman-Lehmann Syndrome

Organs/tissues related to Borjeson-Forssman-Lehmann Syndrome:

MalaCards : Eye, Prostate, Skeletal Muscle, Testes, Bone, Brain, Pituitary
ODiseA: Brain

Publications for Borjeson-Forssman-Lehmann Syndrome

Articles related to Borjeson-Forssman-Lehmann Syndrome:

(show top 50) (show all 70)
# Title Authors PMID Year
1
Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. 53 62 57 5
15994862 2006
2
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. 53 62 57 5
12415272 2002
3
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 57 5
23906836 2013
4
1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family. 57 5
15241480 2004
5
An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder. 57 5
13871358 1962
6
The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. 53 62 57
14756673 2004
7
Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function. 62 5
27633282 2016
8
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. 62 5
24092917 2013
9
The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900). 62 57
16912705 2006
10
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. 62 57
10071193 1999
11
Linkage localization of Börjeson-Forssman-Lehmann syndrome. 62 57
2624254 1989
12
The Borjeson-Forssman-Lehmann syndrome. A family study. 62 57
3720009 1986
13
Börjeson-Forssman-Lehmann syndrome: further delineation in five cases. 62 57
6517094 1984
14
Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome. 62 57
564968 1978
15
THE BOERJESON-FORSSMAN-LEHMANN SYNDROME. 62 57
14323171 1965
16
A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome. 5
15466013 2004
17
Börjeson-Forssman-Lehmann syndrome in a woman with skewed X-chromosome inactivation. 57
10564881 1999
18
Börjeson-Forssman-Lehmann syndrome localization. 57
2491427 1989
19
Börjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27. 57
2624253 1989
20
Dermatoglyphics in Börjeson-Forssman-Lehmann syndrome. 57
4014320 1985
21
The Börjeson-Forssman-Lehmann syndrome. 57
6683929 1983
22
An inherited syndrome with mental deficiency and endocrine disorder. A patho-anatomical study. 57
4465467 1974
23
Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6. 53 62
15580208 2004
24
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6. 62
35662002 2022
25
Prediction of Liver Triglyceride Content in Early Lactation Multiparous Holstein Cows Using Blood Metabolite, Mineral, and Protein Biomarker Concentrations. 62
36230297 2022
26
The Role of PHF6 in Hematopoiesis and Hematologic Malignancies. 62
36008597 2022
27
The effect of blue light filtering lenses on speed perception. 62
34475483 2021
28
Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome. 62
33772537 2021
29
Predictors and complications of side branch occlusion after recanalization of chronic total occlusions complicated with bifurcation lesions. 62
33627677 2021
30
Metabolic Reprogramming and Inflammatory Response Induced by D-Lactate in Bovine Fibroblast-Like Synoviocytes Depends on HIF-1 Activity. 62
33796579 2021
31
Loss of PHF6 leads to aberrant development of human neuron-like cells. 62
33149206 2020
32
Downregulation of the GHRH/GH/IGF1 axis in a mouse model of Börjeson-Forssman-Lehman syndrome. 62
32994169 2020
33
A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome. 62
32399860 2020
34
A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome 62
30630810 2019
35
Wheat (Triticum aestivum L.) flour free lipid fractions negatively impact the quality of sponge cake. 62
30236694 2019
36
Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome. 62
30403997 2018
37
Extracellular enzymes and adhesive properties of medically important Candida spp. strains from landfill leachate. 62
29407237 2018
38
A randomized trial of bifurcation stenting technique in chronic total occlusions percutaneous coronary intervention. 62
29220345 2018
39
Thermal self-stability, multi-stability, and memory effects in single-mode Brillouin fiber lasers. 62
29092208 2017
40
Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome. 62
28237832 2017
41
The sub-nucleolar localization of PHF6 defines its role in rDNA transcription and early processing events. 62
27165002 2016
42
The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys. 62
26648834 2015
43
PHF6 Degrees of Separation: The Multifaceted Roles of a Chromatin Adaptor Protein. 62
26103525 2015
44
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome. 62
25099957 2014
45
Numerous BAF complex genes are mutated in Coffin-Siris syndrome. 62
25081545 2014
46
Distinct phenotype of PHF6 deletions in females. 62
24380767 2014
47
The X-linked intellectual disability protein PHF6 associates with the PAF1 complex and regulates neuronal migration in the mammalian brain. 62
23791194 2013
48
PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex. 62
22720776 2012
49
PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females. 62
22190899 2011
50
Impact of bifurcation lesions on angiographic characteristics and procedural success in primary percutaneous coronary intervention for ST-segment elevation myocardial infarction. 62
21624790 2011

Variations for Borjeson-Forssman-Lehmann Syndrome

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

5 (show all 50)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PHF6 NM_001015877.2(PHF6):c.296G>T (p.Cys99Phe) SNV Pathogenic
11064 rs132630298 GRCh37: X:133527586-133527586
GRCh38: X:134393556-134393556
2 PHF6 NM_001015877.2(PHF6):c.700A>G (p.Lys234Glu) SNV Pathogenic
11065 rs104894917 GRCh37: X:133547967-133547967
GRCh38: X:134413937-134413937
3 PHF6 NM_001015877.2(PHF6):c.134G>A (p.Cys45Tyr) SNV Pathogenic
11066 rs132630299 GRCh37: X:133511781-133511781
GRCh38: X:134377751-134377751
4 PHF6 NM_001015877.2(PHF6):c.686A>G (p.His229Arg) SNV Pathogenic
11067 rs104894918 GRCh37: X:133547953-133547953
GRCh38: X:134413923-134413923
5 PHF6 NM_001015877.2(PHF6):c.769A>G (p.Arg257Gly) SNV Pathogenic
11069 rs104894919 GRCh37: X:133549085-133549085
GRCh38: X:134415055-134415055
6 PHF6 NM_001015877.2(PHF6):c.22A>T (p.Lys8Ter) SNV Pathogenic
11070 rs132630301 GRCh37: X:133511669-133511669
GRCh38: X:134377639-134377639
7 PHF6 NM_001015877.2(PHF6):c.139-8A>G SNV Pathogenic
11071 rs771399346 GRCh37: X:133512027-133512027
GRCh38: X:134377997-134377997
8 PHF6 NM_001015877.2(PHF6):c.27dup (p.Gly10fs) DUP Pathogenic
11072 rs758791658 GRCh37: X:133511668-133511669
GRCh38: X:134377638-134377639
9 PHF6 NM_001015877.2(PHF6):c.914G>T (p.Cys305Phe) SNV Pathogenic
139557 rs587777489 GRCh37: X:133551278-133551278
GRCh38: X:134417248-134417248
10 PHF6 NM_001015877.2(PHF6):c.418G>A (p.Ala140Thr) SNV Pathogenic
218375 rs864309532 GRCh37: X:133527982-133527982
GRCh38: X:134393952-134393952
11 PHF6 NM_001015877.2(PHF6):c.255C>A (p.Cys85Ter) SNV Pathogenic
242879 rs1114167289 GRCh37: X:133527545-133527545
GRCh38: X:134393515-134393515
12 PHF6 NM_001015877.2(PHF6):c.29_30dup (p.Pro11fs) DUP Pathogenic
488575 rs1556013203 GRCh37: X:133511674-133511675
GRCh38: X:134377644-134377645
13 PHF6 NM_001015877.2(PHF6):c.673C>T (p.Arg225Ter) SNV Pathogenic
488410 rs1556018932 GRCh37: X:133547940-133547940
GRCh38: X:134413910-134413910
14 PHF6 NM_001015877.2(PHF6):c.585+1G>A SNV Pathogenic
976155 rs2077460481 GRCh37: X:133547688-133547688
GRCh38: X:134413658-134413658
15 PHF6 NM_001015877.2(PHF6):c.85G>T (p.Gly29Ter) SNV Pathogenic
1319370 GRCh37: X:133511732-133511732
GRCh38: X:134377702-134377702
16 PHF6 NM_001015877.2(PHF6):c.415G>T (p.Glu139Ter) SNV Pathogenic
1320220 GRCh37: X:133527979-133527979
GRCh38: X:134393949-134393949
17 PHF6 NM_001015877.2(PHF6):c.829del (p.Arg277fs) DEL Pathogenic
846281 rs2077467552 GRCh37: X:133549141-133549141
GRCh38: X:134415111-134415111
18 PHF6 NM_001015877.2(PHF6):c.890G>T (p.Cys297Phe) SNV Pathogenic
1710152 GRCh37: X:133551254-133551254
GRCh38: X:134417224-134417224
19 PHF6 NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter) SNV Pathogenic
11063 rs132630297 GRCh37: X:133559286-133559286
GRCh38: X:134425256-134425256
20 PHF6 NM_001015877.2(PHF6):c.2T>C (p.Met1Thr) SNV Pathogenic
11068 rs132630300 GRCh37: X:133511649-133511649
GRCh38: X:134377619-134377619
21 PHF6 NM_001015877.2(PHF6):c.65C>A (p.Ser22Ter) SNV Likely Pathogenic
623207 rs1569334260 GRCh37: X:133511712-133511712
GRCh38: X:134377682-134377682
22 PHF6 NM_001015877.2(PHF6):c.931_932del (p.Lys310_Ala311insTer) DEL Likely Pathogenic
1324890 GRCh37: X:133551295-133551296
GRCh38: X:134417265-134417266
23 PHF6 NM_001015877.2(PHF6):c.802G>C (p.Val268Leu) SNV Likely Pathogenic
983069 rs2077467347 GRCh37: X:133549118-133549118
GRCh38: X:134415088-134415088
24 PHF6 NM_001015877.2(PHF6):c.757ACA[2] (p.Thr255del) MICROSAT Likely Pathogenic
438300 rs1556019105 GRCh37: X:133549073-133549075
GRCh38: X:134415043-134415045
25 PHF6 NM_001015877.2(PHF6):c.823G>A (p.Gly275Arg) SNV Uncertain Significance
804232 rs1602716458 GRCh37: X:133549139-133549139
GRCh38: X:134415109-134415109
26 PHF6 NM_001015877.2(PHF6):c.688A>G (p.Ile230Val) SNV Uncertain Significance
198600 rs794727879 GRCh37: X:133547955-133547955
GRCh38: X:134413925-134413925
27 PHF6 NM_001015877.2(PHF6):c.969-6T>G SNV Uncertain Significance
1031493 rs2077504087 GRCh37: X:133559225-133559225
GRCh38: X:134425195-134425195
28 PHF6 NM_001015877.2(PHF6):c.113del (p.Lys38fs) DEL Uncertain Significance
375264 rs1057519064 GRCh37: X:133511759-133511759
GRCh38: X:134377729-134377729
29 PHF6 NM_001015877.2(PHF6):c.-47+5G>A SNV Uncertain Significance
1683726 GRCh37: X:133507502-133507502
GRCh38: X:134373472-134373472
30 PHF6 NM_001015877.2(PHF6):c.86G>C (p.Gly29Ala) SNV Uncertain Significance
1010319 rs2077284343 GRCh37: X:133511733-133511733
GRCh38: X:134377703-134377703
31 PHF6 NM_001015877.2(PHF6):c.440A>T (p.Asn147Ile) SNV Uncertain Significance
1015376 rs2077459540 GRCh37: X:133547542-133547542
GRCh38: X:134413512-134413512
32 PHF6 NM_001015877.2(PHF6):c.865A>G (p.Thr289Ala) SNV Uncertain Significance
1035315 rs2077475371 GRCh37: X:133551229-133551229
GRCh38: X:134417199-134417199
33 PHF6 NM_001015877.2(PHF6):c.122C>T (p.Ala41Val) SNV Uncertain Significance
1440192 GRCh37: X:133511769-133511769
GRCh38: X:134377739-134377739
34 PHF6 NM_001015877.2(PHF6):c.487C>T (p.Arg163Cys) SNV Uncertain Significance
135031 rs199945885 GRCh37: X:133547589-133547589
GRCh38: X:134413559-134413559
35 PHF6 NM_001015877.2(PHF6):c.383G>A (p.Cys128Tyr) SNV Uncertain Significance
1709026 GRCh37: X:133527947-133527947
GRCh38: X:134393917-134393917
36 PHF6 NM_001015877.2(PHF6):c.310C>G (p.His104Asp) SNV Uncertain Significance
961345 rs2077363957 GRCh37: X:133527600-133527600
GRCh38: X:134393570-134393570
37 PHF6 NM_001015877.2(PHF6):c.157G>T (p.Val53Leu) SNV Uncertain Significance
1718458 GRCh37: X:133512053-133512053
GRCh38: X:134378023-134378023
38 PHF6 NM_001015877.2(PHF6):c.139-13del DEL Likely Benign
1531078 GRCh37: X:133512020-133512020
GRCh38: X:134377990-134377990
39 PHF6 NM_001015877.2(PHF6):c.585+14A>C SNV Likely Benign
1596480 GRCh37: X:133547701-133547701
GRCh38: X:134413671-134413671
40 PHF6 NM_001015877.2(PHF6):c.132G>A (p.Lys44=) SNV Likely Benign
728761 rs759708359 GRCh37: X:133511779-133511779
GRCh38: X:134377749-134377749
41 PHF6 NM_001015877.2(PHF6):c.714C>T (p.Ala238=) SNV Benign
796280 rs761180935 GRCh37: X:133547981-133547981
GRCh38: X:134413951-134413951
42 PHF6 NM_001015877.2(PHF6):c.730-11T>G SNV Benign
506313 rs192977933 GRCh37: X:133549035-133549035
GRCh38: X:134415005-134415005
43 PHF6 NM_001015877.2(PHF6):c.241-13C>T SNV Benign
1266610 GRCh37: X:133527518-133527518
GRCh38: X:134393488-134393488
44 PHF6 NM_001015877.2(PHF6):c.374+8T>C SNV Benign
96221 rs142596708 GRCh37: X:133527672-133527672
GRCh38: X:134393642-134393642
45 PHF6 NM_001015877.2(PHF6):c.139-11_139-7del DEL Benign
594571 rs781657256 GRCh37: X:133512021-133512025
GRCh38: X:134377991-134377995
46 PHF6 NM_001015877.2(PHF6):c.240+10T>C SNV Benign
932063 rs750243844 GRCh37: X:133512146-133512146
GRCh38: X:134378116-134378116
47 PHF6 NM_001015877.2(PHF6):c.139-47G>A SNV Benign
670935 rs5978001 GRCh37: X:133511988-133511988
GRCh38: X:134377958-134377958
48 PHF6 NM_001015877.2(PHF6):c.927C>T (p.Asp309=) SNV Benign
129887 rs112199174 GRCh37: X:133551291-133551291
GRCh38: X:134417261-134417261
49 PHF6 NM_001015877.2(PHF6):c.729+4A>G SNV Benign
129886 rs188961105 GRCh37: X:133548000-133548000
GRCh38: X:134413970-134413970
50 PHF6 NM_001015877.2(PHF6):c.233C>T (p.Thr78Met) SNV Not Provided
1339806 GRCh37: X:133512129-133512129
GRCh38: X:134378099-134378099

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

73
# 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

Expression for Borjeson-Forssman-Lehmann Syndrome

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

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
Show member pathways
12.25 BBS5 BBS12 BBS10 BBS1 ALMS1
2
Show member pathways
11.39 BBS5 BBS12 BBS10 BBS1
3
Show member pathways
10.94 BBS5 BBS12 BBS10 BBS1

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 cell projection GO:0042995 9.73 FGF13 BBS5 BBS12 BBS10 BBS1 ALMS1
2 nBAF complex GO:0071565 9.71 SMARCE1 SMARCA2
3 npBAF complex GO:0071564 9.67 SMARCE1 SMARCA2
4 brahma complex GO:0035060 9.62 SMARCE1 SMARCA2
5 bBAF complex GO:0140092 9.46 SMARCE1 SMARCA2
6 BBSome GO:0034464 9.26 BBS5 BBS1
7 cilium GO:0005929 9.23 BBS5 BBS12 BBS10 BBS1 ALMS1

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

# Name GO ID Score Top Affiliating Genes
1 photoreceptor cell maintenance GO:0045494 9.43 BBS12 BBS10 BBS1
2 chromatin organization GO:0006325 9.28 UBE2A SMARCE1 SMARCA2 PHF8 KDM5C BANF1

Sources for Borjeson-Forssman-Lehmann Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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