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BFLS
MCID: BRJ001
MIFTS: 50

Borjeson-Forssman-Lehmann Syndrome (BFLS)

Categories: Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications 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 20 58 36 29 13 54 6 44 15 39 70
Bfls 57 12 20 58 72
Borj 57 12 20 72
Borjeson Syndrome 57 12 20
Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome 12 20
Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome 20 58
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 20
Mental Deficiency-Epilepsy- Endocrine Disorders 72
Boerjeson-Forssman-Lehmann Syndrome 72
Borjeson-Forssman Syndrome 72
Borjeson Syndrome; Borj 57

Characteristics:

Orphanet epidemiological data:

58
borjeson-forssman-lehmann syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
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:

31
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 Ear diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Borjeson-Forssman-Lehmann Syndrome

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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 20-May-2021)

MalaCards based summary : Borjeson-Forssman-Lehmann Syndrome, also known as bfls, is related to lateral meningocele syndrome and hypopituitarism, and has symptoms including seizures An important gene associated with Borjeson-Forssman-Lehmann Syndrome is PHF6 (PHD Finger Protein 6). Affiliated tissues include eye, pituitary and skeletal muscle, and related phenotypes are intellectual disability and coarse facial features

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.

GARD : 20 Borjeson-Forssman-Lehmann syndrome (BFLS) is a genetic condition characterized by intellectual disability, obesity, seizures, hypogonadism, developmental delay and distinctive facial features. These symptoms are variable, even among members of the same family. BFLS is caused by mutations in the PHF6 gene on the X chromosome. This mutation is usually transmitted as an X-linked recessive trait, which means the disorder is fully expressed predominantly in males.

KEGG : 36 Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare, X-linked mental retardation syndrome. BFLS is characterized by severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, short stature, obesity, gynecomastia, tapering fingers, and shortened toes. Mutations in the zinc finger gene PHF6 are the cause of BFLS.

UniProtKB/Swiss-Prot : 72 Boerjeson-Forssman-Lehmann syndrome: An 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 : 73 Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare genetic disease that causes intellectual disability,... more...

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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 top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 lateral meningocele syndrome 30.1 YIPF6 PHF6
2 hypopituitarism 30.1 SOX3 PROP1 POU1F1 LHX4 LHX3 HESX1
3 male pseudohermaphroditism intellectual disability syndrome, verloes type 11.6
4 wilson-turner x-linked mental retardation syndrome 11.4
5 alacrima, achalasia, and mental retardation syndrome 10.6
6 microcephaly 10.5
7 hypogonadism 10.5
8 atrial standstill 1 10.3
9 coffin-siris syndrome 1 10.3
10 optic nerve hypoplasia, bilateral 10.3
11 prader-willi syndrome 10.3
12 dowling-degos disease 1 10.3
13 band heterotopia 10.3
14 myopathy, myofibrillar, 5 10.3
15 brachydactyly 10.3
16 infant gynecomastia 10.3
17 gynecomastia 10.3
18 dilated cardiomyopathy 10.3
19 dwarfism 10.3
20 growth hormone deficiency 10.3
21 horseshoe kidney 10.3
22 non-acquired panhypopituitarism 10.3 SOX3 PROP1
23 isolated growth hormone deficiency type iii 10.3 SOX3 HESX1
24 neonatal thyrotoxicosis 10.3 PROP1 LHX3
25 hypothyroidism, congenital, nongoitrous, 4 10.2 PROP1 POU1F1
26 hypothyroidism, central, with testicular enlargement 10.2 PROP1 POU1F1
27 empty sella syndrome 10.2 PROP1 LHX3
28 autosomal dominant non-syndromic intellectual disability 4 10.2 ZNF81 ZNF41
29 autosomal dominant non-syndromic intellectual disability 5 10.2 ZNF81 ZNF41
30 panhypopituitarism, x-linked 10.2 YIPF6 SOX3
31 congenital hypopituitarism 10.1 PROP1 LHX4 HESX1
32 sheehan syndrome 10.1 PROP1 LHX4 HESX1
33 adamantinous craniopharyngioma 10.1 PROP1 POU1F1 HESX1
34 isolated growth hormone deficiency, type ii 10.1 PROP1 POU1F1 HESX1
35 charcot-marie-tooth disease x-linked recessive 4 10.1 ZNF81 ZNF41
36 pituitary hormone deficiency, combined, 1 10.0 POU1F1 LHX4 LHX3 HESX1
37 combined pituitary hormone deficiencies, genetic forms 10.0 PROP1 POU1F1 LHX4 HESX1
38 cryptorchidism, unilateral or bilateral 10.0 SOX3 PROP1 LHX4 HESX1
39 night blindness, congenital stationary, autosomal dominant 3 10.0 BBS12 BBS10
40 bardet-biedl syndrome 15 9.9 BBS12 BBS10
41 bardet-biedl syndrome 17 9.9 BBS12 BBS10
42 pituitary stalk interruption syndrome 9.9 LHX4 HESX1
43 bardet-biedl syndrome 18 9.9 BBS12 BBS10
44 alstrom syndrome 9.9 BBS10 ALMS1
45 hydrocephalus, congenital, 1 9.9
46 syndromic x-linked intellectual disability siderius type 9.9 ZNF41 PHF8
47 pituitary hypoplasia 9.9 SOX3 POU1F1 LHX4 LHX3 HESX1
48 bardet-biedl syndrome 16 9.9 BBS12 BBS10
49 bardet-biedl syndrome 13 9.9 BBS12 BBS10
50 hypothyroidism due to deficient transcription factors involved in pituitary development or function 9.9 PROP1 POU1F1 LHX4 LHX3 HESX1

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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Human phenotypes related to Borjeson-Forssman-Lehmann Syndrome:

58 31 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
3 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
4 short toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0001831
5 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
6 gynecomastia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000771
7 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
8 large earlobe 58 31 hallmark (90%) Very frequent (99-80%) HP:0009748
9 tapered finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0001182
10 scrotal hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000046
11 truncal obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001956
12 sparse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0008070
13 broad foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001769
14 hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000135
15 camptodactyly of toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0001836
16 hypotonia 31 hallmark (90%) HP:0001252
17 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
18 prominent supraorbital ridges 58 31 frequent (33%) Frequent (79-30%) HP:0000336
19 thick eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0000574
20 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
21 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
22 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
23 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
24 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
25 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
26 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
27 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
28 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
29 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
30 abnormality of the hip bone 58 31 occasional (7.5%) Occasional (29-5%) HP:0003272
31 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
32 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
33 oral cleft 58 31 occasional (7.5%) Occasional (29-5%) HP:0000202
34 seizure 31 occasional (7.5%) HP:0001250
35 seizures 58 Occasional (29-5%)
36 eeg abnormality 31 HP:0002353
37 scoliosis 31 HP:0002650
38 kyphosis 31 HP:0002808
39 muscular hypotonia 58 Very frequent (99-80%)
40 macrotia 31 HP:0000400
41 thickened calvaria 31 HP:0002684
42 visual impairment 31 HP:0000505
43 delayed puberty 31 HP:0000823
44 intellectual disability, severe 31 HP:0010864
45 obesity 31 HP:0001513
46 micropenis 31 HP:0000054
47 generalized hypotonia 31 HP:0001290
48 shortening of all middle phalanges of the fingers 31 HP:0006110
49 narrow palpebral fissure 31 HP:0045025
50 shortening of all distal phalanges of the fingers 31 HP:0006118

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
hypotonia
severe mental retardation (iq 10-40)
abnormal eeg (poor alpha rhythms)

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

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

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

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 20-May-2021)

UMLS symptoms related to Borjeson-Forssman-Lehmann Syndrome:


seizures

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.81 ALMS1 HESX1 LHX3 LHX4 PHF6 POU1F1
2 growth/size/body region MP:0005378 9.7 ALMS1 BBS10 BBS12 HESX1 LHX3 PHF6
3 nervous system MP:0003631 9.4 ALMS1 BBS10 BBS12 FGF13 HESX1 LHX3
Sources

Drugs & Therapeutics for Borjeson-Forssman-Lehmann Syndrome

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Examining the Role of Chrononutrition in Behavioral Weight Control for Adolescents Recruiting NCT04256863

Search 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
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Anatomical Context for Borjeson-Forssman-Lehmann Syndrome

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

40
Eye, Pituitary, Skeletal Muscle, Bone, Prostate, Testes, Kidney
Sources

Publications for Borjeson-Forssman-Lehmann Syndrome

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Articles related to Borjeson-Forssman-Lehmann Syndrome:

(show top 50) (show all 62)
# Title Authors PMID Year
1
Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. 57 6 54 61
15994862 2006
2
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. 61 6 57 54
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 6
23906836 2013
4
1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family. 6 57
15241480 2004
5
An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder. 6 57
13871358 1962
6
The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. 54 57 61
14756673 2004
7
Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function. 6 61
27633282 2016
8
The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900). 57 61
16912705 2006
9
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. 61 57
10071193 1999
10
Linkage localization of Börjeson-Forssman-Lehmann syndrome. 57 61
2624254 1989
11
The Borjeson-Forssman-Lehmann syndrome. A family study. 57 61
3720009 1986
12
Börjeson-Forssman-Lehmann syndrome: further delineation in five cases. 57 61
6517094 1984
13
Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome. 61 57
564968 1978
14
A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome. 6
15466013 2004
15
Börjeson-Forssman-Lehmann syndrome in a woman with skewed X-chromosome inactivation. 57
10564881 1999
16
Börjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27. 57
2624253 1989
17
Börjeson-Forssman-Lehmann syndrome localization. 57
2491427 1989
18
Dermatoglyphics in Börjeson-Forssman-Lehmann syndrome. 57
4014320 1985
19
The Börjeson-Forssman-Lehmann syndrome. 57
6683929 1983
20
An inherited syndrome with mental deficiency and endocrine disorder. A patho-anatomical study. 57
4465467 1974
21
THE BOERJESON-FORSSMAN-LEHMANN SYNDROME. 57
14323171 1965
22
Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6. 54 61
15580208 2004
23
Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome (BFLS). 61
33772537 2021
24
Predictors and complications of side branch occlusion after recanalization of chronic total occlusions complicated with bifurcation lesions. 61
33627677 2021
25
Metabolic Reprogramming and Inflammatory Response Induced by D-Lactate in Bovine Fibroblast-Like Synoviocytes Depends on HIF-1 Activity. 61
33796579 2021
26
Loss of PHF6 leads to aberrant development of human neuron-like cells. 61
33149206 2020
27
Downregulation of the GHRH/GH/IGF1 axis in a mouse model of Börjeson-Forssman-Lehman syndrome. 61
32994169 2020
28
A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome. 61
32399860 2020
29
A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome 61
30630810 2019
30
Wheat (Triticum aestivum L.) flour free lipid fractions negatively impact the quality of sponge cake. 61
30236694 2019
31
Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome. 61
30403997 2018
32
A randomized trial of bifurcation stenting technique in chronic total occlusions percutaneous coronary intervention. 61
29220345 2018
33
Thermal self-stability, multi-stability, and memory effects in single-mode Brillouin fiber lasers. 61
29092208 2017
34
Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome. 61
28237832 2017
35
The sub-nucleolar localization of PHF6 defines its role in rDNA transcription and early processing events. 61
27165002 2016
36
The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys. 61
26648834 2015
37
PHF6 Degrees of Separation: The Multifaceted Roles of a Chromatin Adaptor Protein. 61
26103525 2015
38
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome. 61
25099957 2014
39
Numerous BAF complex genes are mutated in Coffin-Siris syndrome. 61
25081545 2014
40
Distinct phenotype of PHF6 deletions in females. 61
24380767 2014
41
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. 61
24092917 2013
42
The X-linked intellectual disability protein PHF6 associates with the PAF1 complex and regulates neuronal migration in the mammalian brain. 61
23791194 2013
43
Coffin-Siris Syndrome 61
23556151 2013
44
PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex. 61
22720776 2012
45
PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females. 61
22190899 2011
46
Impact of bifurcation lesions on angiographic characteristics and procedural success in primary percutaneous coronary intervention for ST-segment elevation myocardial infarction. 61
21624790 2011
47
T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6. 61
20806366 2010
48
Behavioural phenotype in Börjeson-Forssman-Lehmann syndrome. 61
19187102 2009
49
Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity. 61
17698420 2007
50
Finding landmarks in the functional brain: detection and use for group characterization. 61
16685994 2005
Sources

Variations for Borjeson-Forssman-Lehmann Syndrome

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

6 (show all 34)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PHF6 NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter) SNV Pathogenic 11063 rs132630297 GRCh37: X:133559286-133559286
GRCh38: X:134425256-134425256
2 PHF6 NM_001015877.2(PHF6):c.296G>T (p.Cys99Phe) SNV Pathogenic 11064 rs132630298 GRCh37: X:133527586-133527586
GRCh38: X:134393556-134393556
3 PHF6 NM_001015877.2(PHF6):c.700A>G (p.Lys234Glu) SNV Pathogenic 11065 rs104894917 GRCh37: X:133547967-133547967
GRCh38: X:134413937-134413937
4 PHF6 NM_001015877.2(PHF6):c.134G>A (p.Cys45Tyr) SNV Pathogenic 11066 rs132630299 GRCh37: X:133511781-133511781
GRCh38: X:134377751-134377751
5 PHF6 NM_001015877.2(PHF6):c.686A>G (p.His229Arg) SNV Pathogenic 11067 rs104894918 GRCh37: X:133547953-133547953
GRCh38: X:134413923-134413923
6 PHF6 NM_001015877.2(PHF6):c.769A>G (p.Arg257Gly) SNV Pathogenic 11069 rs104894919 GRCh37: X:133549085-133549085
GRCh38: X:134415055-134415055
7 PHF6 NM_001015877.2(PHF6):c.22A>T (p.Lys8Ter) SNV Pathogenic 11070 rs132630301 GRCh37: X:133511669-133511669
GRCh38: X:134377639-134377639
8 PHF6 NM_001015877.2(PHF6):c.139-8A>G SNV Pathogenic 11071 rs771399346 GRCh37: X:133512027-133512027
GRCh38: X:134377997-134377997
9 PHF6 NM_001015877.2(PHF6):c.27dup (p.Gly10fs) Duplication Pathogenic 11072 rs758791658 GRCh37: X:133511668-133511669
GRCh38: X:134377638-134377639
10 PHF6 NM_001015877.2(PHF6):c.914G>T (p.Cys305Phe) SNV Pathogenic 139557 rs587777489 GRCh37: X:133551278-133551278
GRCh38: X:134417248-134417248
11 PHF6 NM_001015877.2(PHF6):c.418G>A (p.Ala140Thr) SNV Pathogenic 218375 rs864309532 GRCh37: X:133527982-133527982
GRCh38: X:134393952-134393952
12 PHF6 NM_001015877.2(PHF6):c.255C>A (p.Cys85Ter) SNV Pathogenic 242879 rs1114167289 GRCh37: X:133527545-133527545
GRCh38: X:134393515-134393515
13 PHF6 NM_001015877.2(PHF6):c.29_30dup (p.Pro11fs) Duplication Pathogenic 488575 rs1556013203 GRCh37: X:133511674-133511675
GRCh38: X:134377644-134377645
14 PHF6 NM_001015877.2(PHF6):c.673C>T (p.Arg225Ter) SNV Pathogenic 488410 rs1556018932 GRCh37: X:133547940-133547940
GRCh38: X:134413910-134413910
15 PHF6 NM_001015877.2(PHF6):c.829del (p.Arg277fs) Deletion Pathogenic 846281 GRCh37: X:133549141-133549141
GRCh38: X:134415111-134415111
16 PHF6 NM_001015877.2(PHF6):c.585+1G>A SNV Pathogenic 976155 GRCh37: X:133547688-133547688
GRCh38: X:134413658-134413658
17 PHF6 NM_001015877.2(PHF6):c.2T>C (p.Met1Thr) SNV Pathogenic 11068 rs132630300 GRCh37: X:133511649-133511649
GRCh38: X:134377619-134377619
18 PHF6 NM_001015877.2(PHF6):c.802G>C (p.Val268Leu) SNV Likely pathogenic 983069 GRCh37: X:133549118-133549118
GRCh38: X:134415088-134415088
19 PHF6 NM_001015877.2(PHF6):c.65C>A (p.Ser22Ter) SNV Likely pathogenic 623207 rs1569334260 GRCh37: X:133511712-133511712
GRCh38: X:134377682-134377682
20 PHF6 NM_001015877.2(PHF6):c.757_759ACA[2] (p.Thr255del) Microsatellite Likely pathogenic 438300 rs1556019105 GRCh37: X:133549073-133549075
GRCh38: X:134415043-134415045
21 PHF6 NM_001015877.2(PHF6):c.487C>T (p.Arg163Cys) SNV Uncertain significance 135031 rs199945885 GRCh37: X:133547589-133547589
GRCh38: X:134413559-134413559
22 PHF6 NM_001015877.2(PHF6):c.113del (p.Lys38fs) Deletion Uncertain significance 375264 rs1057519064 GRCh37: X:133511759-133511759
GRCh38: X:134377729-134377729
23 PHF6 NM_001015877.2(PHF6):c.86G>C (p.Gly29Ala) SNV Uncertain significance 1010319 GRCh37: X:133511733-133511733
GRCh38: X:134377703-134377703
24 PHF6 NM_001015877.2(PHF6):c.440A>T (p.Asn147Ile) SNV Uncertain significance 1015376 GRCh37: X:133547542-133547542
GRCh38: X:134413512-134413512
25 PHF6 NM_001015877.2(PHF6):c.688A>G (p.Ile230Val) SNV Uncertain significance 198600 rs794727879 GRCh37: X:133547955-133547955
GRCh38: X:134413925-134413925
26 PHF6 NM_001015877.2(PHF6):c.969-6T>G SNV Uncertain significance 1031493 GRCh37: X:133559225-133559225
GRCh38: X:134425195-134425195
27 PHF6 NM_001015877.2(PHF6):c.865A>G (p.Thr289Ala) SNV Uncertain significance 1035315 GRCh37: X:133551229-133551229
GRCh38: X:134417199-134417199
28 PHF6 NM_001015877.2(PHF6):c.823G>A (p.Gly275Arg) SNV Uncertain significance 804232 rs1602716458 GRCh37: X:133549139-133549139
GRCh38: X:134415109-134415109
29 PHF6 NM_001015877.2(PHF6):c.310C>G (p.His104Asp) SNV Uncertain significance 961345 GRCh37: X:133527600-133527600
GRCh38: X:134393570-134393570
30 PHF6 NM_001015877.2(PHF6):c.729+4A>G SNV Benign 129886 rs188961105 GRCh37: X:133548000-133548000
GRCh38: X:134413970-134413970
31 PHF6 NM_001015877.2(PHF6):c.374+8T>C SNV Benign 96221 rs142596708 GRCh37: X:133527672-133527672
GRCh38: X:134393642-134393642
32 PHF6 NM_001015877.2(PHF6):c.139-11_139-7del Deletion Benign 594571 rs781657256 GRCh37: X:133512021-133512025
GRCh38: X:134377991-134377995
33 PHF6 NM_001015877.2(PHF6):c.927C>T (p.Asp309=) SNV Benign 129887 rs112199174 GRCh37: X:133551291-133551291
GRCh38: X:134417261-134417261
34 PHF6 NM_001015877.2(PHF6):c.240+10T>C SNV Benign 932063 GRCh37: X:133512146-133512146
GRCh38: X:134378116-134378116

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

72
# 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

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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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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 nucleus GO:0005634 9.73 ZNF81 ZNF41 TTF1 SOX3 PROP1 POU1F1
2 chromatin GO:0000785 9.17 SOX3 PROP1 POU1F1 PHF8 LHX4 LHX3

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

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.86 ZNF81 ZNF41 SOX3 PROP1 POU1F1 LHX4
2 regulation of transcription by RNA polymerase II GO:0006357 9.61 ZNF81 ZNF41 PROP1 POU1F1 PHF8 PHF6
3 motor neuron axon guidance GO:0008045 9.37 LHX4 LHX3
4 chaperone-mediated protein complex assembly GO:0051131 9.32 BBS12 BBS10
5 medial motor column neuron differentiation GO:0021526 9.16 LHX4 LHX3
6 pituitary gland development GO:0021983 8.92 SOX3 PROP1 LHX3 HESX1

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.7 ZNF81 ZNF41 SOX3 PROP1 POU1F1 LHX3
2 sequence-specific double-stranded DNA binding GO:1990837 9.65 SOX3 PROP1 POU1F1 LHX4 HESX1
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.56 ZNF81 ZNF41 SOX3 PROP1 POU1F1 LHX4
4 DNA binding GO:0003677 9.32 ZNF81 ZNF41 TTF1 SOX3 PROP1 POU1F1
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Sources for Borjeson-Forssman-Lehmann Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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