BFLS
MCID: BRJ001
MIFTS: 49

Borjeson-Forssman-Lehmann Syndrome (BFLS)

Categories: Ear diseases, 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 56 12 52 58 36 29 13 54 6 43 15 39 71
Bfls 56 12 52 58 73
Borj 56 12 52 73
Borjeson Syndrome 56 12 52
Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome 12 52
Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome 52 58
Mrxsbfl 56 12
Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type; Mrxsbfl 56
Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type 56
Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type 12
Mental Retardation, Epilepsy, and Endocrine Disorders 56
Mental Retardation, Epilepsy, and Endocrine Disorder 12
Mental Deficiency, Epilepsy and Endocrine Disorders 52
Mental Deficiency-Epilepsy- Endocrine Disorders 73
Boerjeson-Forssman-Lehmann Syndrome 73
Borjeson-Forssman Syndrome 73
Borjeson Syndrome; Borj 56

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:

56
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:

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


Summaries for Borjeson-Forssman-Lehmann Syndrome

NIH Rare Diseases : 52 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.

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

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.

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 : 73 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 : 74 Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare genetic disease that causes intellectual disability,... more...

More information from OMIM: 301900 PS309510

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 71)
# Related Disease Score Top Affiliating Genes
1 hypopituitarism 30.3 SOX3 PROP1 POU1F1 LHX4 LHX3 HESX1
2 male pseudohermaphroditism intellectual disability syndrome, verloes type 12.0
3 wilson-turner x-linked mental retardation syndrome 11.8
4 alacrima, achalasia, and mental retardation syndrome 10.9
5 microcephaly 10.7
6 hypogonadism 10.7
7 atrial standstill 1 10.6
8 coffin-siris syndrome 1 10.6
9 optic nerve hypoplasia, bilateral 10.6
10 prader-willi syndrome 10.6
11 dowling-degos disease 1 10.6
12 band heterotopia 10.6
13 myopathy, myofibrillar, 5 10.6
14 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.6
15 brachydactyly 10.6
16 infant gynecomastia 10.6
17 gynecomastia 10.6
18 dilated cardiomyopathy 10.6
19 dwarfism 10.6
20 growth hormone deficiency 10.6
21 horseshoe kidney 10.6
22 non-acquired panhypopituitarism 10.4 SOX3 PROP1
23 isolated growth hormone deficiency type iii 10.4 SOX3 HESX1
24 neonatal thyrotoxicosis 10.3 PROP1 LHX3
25 hypothyroidism, congenital, nongoitrous, 4 10.3 PROP1 POU1F1
26 autosomal dominant non-syndromic intellectual disability 4 10.3 ZNF81 ZNF41
27 panhypopituitarism, x-linked 10.3 YIPF6 SOX3
28 autosomal dominant non-syndromic intellectual disability 5 10.3 ZNF81 ZNF41
29 charcot-marie-tooth disease x-linked recessive 4 10.2 ZNF81 ZNF41
30 congenital hypopituitarism 10.2 PROP1 LHX4 HESX1
31 lateral meningocele syndrome 10.2
32 neutropenia 10.2
33 bird fancier's lung 10.2
34 extrinsic allergic alveolitis 10.2
35 empty sella syndrome 10.2 PROP1 LHX3
36 hypothyroidism, central, with testicular enlargement 10.2 PROP1 POU1F1 LHX3
37 adamantinous craniopharyngioma 10.2 PROP1 POU1F1 HESX1
38 acth deficiency, isolated 10.2 PROP1 LHX4 LHX3
39 isolated growth hormone deficiency, type ii 10.2 PROP1 POU1F1 HESX1
40 pituitary stalk interruption syndrome 10.1 SOX3 POU1F1 LHX4 HESX1
41 aland island eye disease 10.1 ZNF81 ZNF41
42 pituitary hormone deficiency, combined, 1 10.0 POU1F1 LHX4 LHX3 HESX1
43 combined pituitary hormone deficiencies, genetic forms 10.0 PROP1 POU1F1 LHX4 HESX1
44 night blindness, congenital stationary, autosomal dominant 3 10.0 BBS12 BBS10
45 cryptorchidism, unilateral or bilateral 10.0 SOX3 PROP1 LHX4 HESX1
46 bardet-biedl syndrome 15 10.0 BBS12 BBS10
47 bardet-biedl syndrome 19 10.0 BBS12 BBS10
48 bardet-biedl syndrome 17 10.0 BBS12 BBS10
49 bardet-biedl syndrome 18 9.9 BBS12 BBS10
50 bardet-biedl syndrome 16 9.9 BBS12 BBS10

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 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
5 short toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0001831
6 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
7 gynecomastia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000771
8 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
9 large earlobe 58 31 hallmark (90%) Very frequent (99-80%) HP:0009748
10 tapered finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0001182
11 scrotal hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000046
12 truncal obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001956
13 sparse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0008070
14 broad foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001769
15 hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000135
16 camptodactyly of toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0001836
17 prominent supraorbital ridges 58 31 frequent (33%) Frequent (79-30%) HP:0000336
18 thick eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0000574
19 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
20 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
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 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
24 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
25 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
26 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
27 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
28 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
29 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
30 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
31 abnormality of the hip bone 58 31 occasional (7.5%) Occasional (29-5%) HP:0003272
32 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
33 oral cleft 58 31 occasional (7.5%) Occasional (29-5%) HP:0000202
34 seizure 31 occasional (7.5%) HP:0001250
35 macrotia 31 HP:0000400
36 scoliosis 31 HP:0002650
37 kyphosis 31 HP:0002808
38 seizures 58 Occasional (29-5%)
39 thickened calvaria 31 HP:0002684
40 visual impairment 31 HP:0000505
41 eeg abnormality 31 HP:0002353
42 delayed puberty 31 HP:0000823
43 intellectual disability, severe 31 HP:0010864
44 obesity 31 HP:0001513
45 micropenis 31 HP:0000054
46 generalized hypotonia 31 HP:0001290
47 shortening of all middle phalanges of the fingers 31 HP:0006110
48 narrow palpebral fissure 31 HP:0045025
49 shortening of all distal phalanges of the fingers 31 HP:0006118
50 cervical spinal canal stenosis 31 HP:0008445

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
prominent supraorbital ridges
coarse facies

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

Growth Height:
short stature

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

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 Head:
microcephaly

Endocrine Features:
delayed puberty

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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.93 ALMS1 BBS10 BBS12 CUL4B HESX1 LHX3
2 endocrine/exocrine gland MP:0005379 9.86 ALMS1 HESX1 LHX3 LHX4 POU1F1 PROP1
3 nervous system MP:0003631 9.44 ALMS1 BBS10 BBS12 CUL4B FGF13 HESX1
4 hearing/vestibular/ear MP:0005377 9.35 ALMS1 HESX1 LHX3 PHF6 POU1F1

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 29 PHF6

Anatomical Context for Borjeson-Forssman-Lehmann Syndrome

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

40
Eye, Prostate, Bone, Skeletal Muscle, Testes, Brain, Pituitary

Publications for Borjeson-Forssman-Lehmann Syndrome

Articles related to Borjeson-Forssman-Lehmann Syndrome:

(show top 50) (show all 57)
# Title Authors PMID Year
1
Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. 56 6 54 61
15994862 2006
2
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. 6 54 61 56
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. 56 6
23906836 2013
4
1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family. 56 6
15241480 2004
5
An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder. 6 56
13871358 1962
6
The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. 56 61 54
14756673 2004
7
The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900). 56 61
16912705 2006
8
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. 56 61
10071193 1999
9
Linkage localization of Börjeson-Forssman-Lehmann syndrome. 56 61
2624254 1989
10
The Borjeson-Forssman-Lehmann syndrome. A family study. 61 56
3720009 1986
11
Börjeson-Forssman-Lehmann syndrome: further delineation in five cases. 56 61
6517094 1984
12
Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome. 56 61
564968 1978
13
A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome. 6
15466013 2004
14
Börjeson-Forssman-Lehmann syndrome in a woman with skewed X-chromosome inactivation. 56
10564881 1999
15
Börjeson-Forssman-Lehmann syndrome localization. 56
2491427 1989
16
Börjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27. 56
2624253 1989
17
Dermatoglyphics in Börjeson-Forssman-Lehmann syndrome. 56
4014320 1985
18
The Börjeson-Forssman-Lehmann syndrome. 56
6683929 1983
19
An inherited syndrome with mental deficiency and endocrine disorder. A patho-anatomical study. 56
4465467 1974
20
THE BOERJESON-FORSSMAN-LEHMANN SYNDROME. 56
14323171 1965
21
Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6. 61 54
15580208 2004
22
A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome. 61
32399860 2020
23
A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome 61
30630810 2019
24
Wheat (Triticum aestivum L.) flour free lipid fractions negatively impact the quality of sponge cake. 61
30236694 2019
25
Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome. 61
30403997 2018
26
A randomized trial of bifurcation stenting technique in chronic total occlusions percutaneous coronary intervention. 61
29220345 2018
27
Thermal self-stability, multi-stability, and memory effects in single-mode Brillouin fiber lasers. 61
29092208 2017
28
Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome. 61
28237832 2017
29
Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function. 61
27633282 2016
30
The sub-nucleolar localization of PHF6 defines its role in rDNA transcription and early processing events. 61
27165002 2016
31
The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys. 61
26648834 2015
32
PHF6 Degrees of Separation: The Multifaceted Roles of a Chromatin Adaptor Protein. 61
26103525 2015
33
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome. 61
25099957 2014
34
Numerous BAF complex genes are mutated in Coffin-Siris syndrome. 61
25081545 2014
35
Distinct phenotype of PHF6 deletions in females. 61
24380767 2014
36
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. 61
24092917 2013
37
The X-linked intellectual disability protein PHF6 associates with the PAF1 complex and regulates neuronal migration in the mammalian brain. 61
23791194 2013
38
Coffin-Siris Syndrome 61
23556151 2013
39
PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex. 61
22720776 2012
40
PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females. 61
22190899 2011
41
Impact of bifurcation lesions on angiographic characteristics and procedural success in primary percutaneous coronary intervention for ST-segment elevation myocardial infarction. 61
21624790 2011
42
T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6. 61
20806366 2010
43
Behavioural phenotype in Börjeson-Forssman-Lehmann syndrome. 61
19187102 2009
44
Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity. 61
17698420 2007
45
Finding landmarks in the functional brain: detection and use for group characterization. 61
16685994 2005
46
Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene. 61
14714741 2003
47
Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency. 61
14714754 2003
48
Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Börjeson-Forssman-Lehmann syndrome and MRX27. 61
11337747 2001
49
Borjeson-Forssman-Lehmann syndrome and dilated cardiomyopathy: a previously unreported association. 61
11173318 2001
50
Prader-Willi and other syndromes associated with obesity and mental retardation. 61
9519559 1997

Variations for Borjeson-Forssman-Lehmann Syndrome

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

6 (show all 25) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PHF6 NM_001015877.2(PHF6):c.829del (p.Arg277fs)deletion Pathogenic 846281 X:133549141-133549141 X:134415111-134415111
2 PHF6 NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter)SNV Pathogenic 11063 rs132630297 X:133559286-133559286 X:134425256-134425256
3 PHF6 NM_001015877.2(PHF6):c.296G>T (p.Cys99Phe)SNV Pathogenic 11064 rs132630298 X:133527586-133527586 X:134393556-134393556
4 PHF6 NM_001015877.2(PHF6):c.700A>G (p.Lys234Glu)SNV Pathogenic 11065 rs104894917 X:133547967-133547967 X:134413937-134413937
5 PHF6 NM_001015877.2(PHF6):c.134G>A (p.Cys45Tyr)SNV Pathogenic 11066 rs132630299 X:133511781-133511781 X:134377751-134377751
6 PHF6 NM_001015877.2(PHF6):c.686A>G (p.His229Arg)SNV Pathogenic 11067 rs104894918 X:133547953-133547953 X:134413923-134413923
7 PHF6 NM_001015877.2(PHF6):c.2T>C (p.Met1Thr)SNV Pathogenic 11068 rs132630300 X:133511649-133511649 X:134377619-134377619
8 PHF6 NM_001015877.2(PHF6):c.769A>G (p.Arg257Gly)SNV Pathogenic 11069 rs104894919 X:133549085-133549085 X:134415055-134415055
9 PHF6 NM_001015877.2(PHF6):c.22A>T (p.Lys8Ter)SNV Pathogenic 11070 rs132630301 X:133511669-133511669 X:134377639-134377639
10 PHF6 NM_001015877.2(PHF6):c.139-8A>GSNV Pathogenic 11071 X:133512027-133512027 X:134377997-134377997
11 PHF6 NM_001015877.2(PHF6):c.27dup (p.Gly10fs)duplication Pathogenic 11072 X:133511668-133511669 X:134377638-134377639
12 PHF6 NM_001015877.2(PHF6):c.673C>T (p.Arg225Ter)SNV Pathogenic 488410 rs1556018932 X:133547940-133547940 X:134413910-134413910
13 PHF6 NM_001015877.2(PHF6):c.29_30dup (p.Pro11fs)duplication Pathogenic 488575 rs1556013203 X:133511674-133511675 X:134377644-134377645
14 PHF6 NM_001015877.2(PHF6):c.914G>T (p.Cys305Phe)SNV Pathogenic 139557 rs587777489 X:133551278-133551278 X:134417248-134417248
15 PHF6 NM_001015877.2(PHF6):c.418G>A (p.Ala140Thr)SNV Pathogenic 218375 rs864309532 X:133527982-133527982 X:134393952-134393952
16 PHF6 NM_001015877.2(PHF6):c.255C>A (p.Cys85Ter)SNV Pathogenic 242879 rs1114167289 X:133527545-133527545 X:134393515-134393515
17 PHF6 NM_001015877.2(PHF6):c.65C>A (p.Ser22Ter)SNV Likely pathogenic 623207 rs1569334260 X:133511712-133511712 X:134377682-134377682
18 PHF6 NM_001015877.2(PHF6):c.757_759ACA[2] (p.Thr255del)short repeat Likely pathogenic 438300 rs1556019105 X:133549073-133549075 X:134415043-134415045
19 PHF6 NM_001015877.2(PHF6):c.729+4A>GSNV Conflicting interpretations of pathogenicity 129886 rs188961105 X:133548000-133548000 X:134413970-134413970
20 PHF6 NM_001015877.2(PHF6):c.927C>T (p.Asp309=)SNV Conflicting interpretations of pathogenicity 129887 rs112199174 X:133551291-133551291 X:134417261-134417261
21 PHF6 NM_001015877.2(PHF6):c.487C>T (p.Arg163Cys)SNV Uncertain significance 135031 rs199945885 X:133547589-133547589 X:134413559-134413559
22 PHF6 NM_001015877.2(PHF6):c.823G>A (p.Gly275Arg)SNV Uncertain significance 804232 X:133549139-133549139 X:134415109-134415109
23 PHF6 NM_001015877.2(PHF6):c.113del (p.Lys38fs)deletion Uncertain significance 375264 rs1057519064 X:133511759-133511759 X:134377729-134377729
24 PHF6 NM_001015877.2(PHF6):c.139-11_139-7deldeletion Benign/Likely benign 594571 rs781657256 X:133512021-133512025 X:134377991-134377995
25 PHF6 NM_001015877.2(PHF6):c.374+8T>CSNV Benign 96221 rs142596708 X:133527672-133527672 X:134393642-134393642

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

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 nucleus GO:0005634 9.77 ZNF81 ZNF41 TTF1 SOX3 PROP1 POU1F1
2 nuclear chromatin GO:0000790 9.1 SOX3 PROP1 POU1F1 LHX4 LHX3 HESX1

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 negative regulation of transcription by RNA polymerase II GO:0000122 9.83 SOX3 PROP1 POU1F1 PHF6 HESX1
3 animal organ morphogenesis GO:0009887 9.58 PROP1 LHX4 LHX3
4 motor neuron axon guidance GO:0008045 9.46 LHX4 LHX3
5 chaperone-mediated protein complex assembly GO:0051131 9.37 BBS12 BBS10
6 adenohypophysis development GO:0021984 9.32 PROP1 POU1F1
7 somatotropin secreting cell differentiation GO:0060126 9.16 PROP1 POU1F1
8 pituitary gland development GO:0021983 9.02 SOX3 PROP1 POU1F1 LHX3 HESX1
9 medial motor column neuron differentiation GO:0021526 8.96 LHX4 LHX3

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.73 SOX3 PROP1 POU1F1 LHX4 LHX3 HESX1
2 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.62 PROP1 POU1F1 LHX4 LHX3
3 chromatin binding GO:0003682 9.55 TTF1 PROP1 POU1F1 PHF8 HESX1
4 sequence-specific DNA binding GO:0043565 9.43 PROP1 POU1F1 PHF6 LHX4 LHX3 HESX1
5 DNA binding GO:0003677 9.32 ZNF81 ZNF41 TTF1 SOX3 PROP1 POU1F1

Sources for Borjeson-Forssman-Lehmann Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....