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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Epilepsy (D004827)
Parent Node: Growth Disorders (D006130)
Parent Node: Hypogonadism (D007006)
Parent Node: Mental Retardation, X-Linked (D038901)
Parent Node: Obesity (D009765)
..Starting node ..Borjeson-Forssman-Lehmann syndrome (C536575)
Child Nodes:
Sister Nodes:
..ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 (OMIM:606770)
..ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 (OMIM:606771)
..Ayazi syndrome (C537793)
..Biemond Syndrome II (C565902)
..Biemond syndrome type 2 (C535439)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10 (OMIM:607514)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11 (OMIM:300306)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 (OMIM:612362)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 13 (OMIM:612459)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14 (OMIM:612460)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 (OMIM:607447)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 7 (OMIM:608410)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8 (OMIM:603188)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9 (OMIM:602025)
..Borjeson-Forssman-Lehmann syndrome (C536575)
..Camera Marugo Cohen syndrome (C537964)
..Clark-Baraitser syndrome (C536208)
..Cohen syndrome (C536438)
..Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome (C566623)
..FASTING INSULIN LEVEL QUANTITATIVE TRAIT LOCUS 1 (OMIM:606035)
..Macrosomia obesity macrocephaly ocular abnormalities (C535812)
..MEHMO syndrome (C537451)
..Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
..MOMES Syndrome (C564660)
..MORM syndrome (C536984)
..Obesity Hypoventilation Syndrome (D010845)
..Obesity, Abdominal (D056128)
..Obesity, Hyperphagia, and Developmental Delay (C563938)
..Obesity, Morbid (D009767)
..Pediatric Obesity (D063766)
..Prader-Willi Syndrome (D011218) 2
..Prolactin Deficiency with Obesity and Enlarged Testes (C564870)
..Proopiomelanocortin Deficiency (C565726)
..Proprotein Convertase 1 3 Deficiency (C563423)
..PROPROTEIN CONVERTASE 1/3 DEFICIENCY (OMIM:600955)
..Short Stature-Obesity Syndrome (C564821)
..Vasquez Hurst Sotos syndrome (C536533)
..Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome (C567292)
..Wilson-Turner X-linked mental retardation syndrome (C536708)
..Young Hughes syndrome (C536715)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1381

Name:

Borjeson-Forssman-Lehmann syndrome

Definition:

Alternative IDs:

OMIM:301900

ParentIDs:

MESH:D004827|MESH:D006130|MESH:D007006|MESH:D009765|MESH:D038901

TreeNumbers:

C10.228.140.490/C536575 |C10.597.606.643.455/C536575 |C16.320.322.500/C536575 |C16.320.400.525/C536575 |C18.654.726.500/C536575 |C19.391.482/C536575 |C23.550.393/C536575 |C23.888.144.699.500/C536575

Synonyms:

Slim Mappings:

Reference:

MedGen: C536575
MeSH: C536575
OMIM: 301900;

Genes: PHF6;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0000581	Blepharophimosis
3	HP:0008445	Cervical spinal canal stenosis
4	HP:0000280	Coarse facial features
5	HP:0000028	Cryptorchidism
6	HP:0000490	Deeply set eye
7	HP:0000823	Delayed puberty
8	HP:0002353	EEG abnormality
9	HP:0001290	Generalized hypotonia
10	HP:0000771	Gynecomastia
11	HP:0008687	Hypoplasia of the prostate
12	HP:0001252	Hypotonia
13	HP:0010864	Intellectual disability, severe
14	HP:0002808	Kyphosis
15	HP:0000400	Macrotia
16	HP:0000252	Microcephaly
17	HP:0000054	Micropenis
18	HP:0000639	Nystagmus
19	HP:0001513	Obesity
20	HP:0000336	Prominent supraorbital ridges
21	HP:0000508	Ptosis
22	HP:0008478	Scheuermann-like vertebral changes
23	HP:0002650	Scoliosis
24	HP:0001250	Seizure
25	HP:0004322	Short stature
26	HP:0001831	Short toe
27	HP:0006118	Shortening of all distal phalanges of the fingers
28	HP:0006110	Shortening of all middle phalanges of the fingers
29	HP:0001182	Tapered finger
30	HP:0002684	Thickened calvaria
31	HP:0000505	Visual impairment
32	HP:0008094	Widely spaced toes

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001015877.1(PHF6):c.2T>C (p.Met1Thr)	84295	PHF6	Pathogenic	132630300	RCV000011817;	N	MedGen:C0265339,OMIM:301900,ORPHA:127,SNOMED CT:21634003	X	133511649	133511649	NM_001015877.1:c.2T>C	NP_001015877.1:p.Met1Thr	NC_000023.10:g.133511649T>C	OMIM Allelic Variant:300414.0006	C0265339 301900 Borjeson-Forssman-Lehmann syndrome; C1857663 216340 Yunis Varon syndrome
NM_001015877.1(PHF6):c.22A>T (p.Lys8Ter)	84295	PHF6	Pathogenic	132630301	RCV000011819;	N	MedGen:C0265339,OMIM:301900,ORPHA:127,SNOMED CT:21634003	X	133511669	133511669	NM_001015877.1:c.22A>T	NP_001015877.1:p.Lys8Ter	NC_000023.10:g.133511669A>T	OMIM Allelic Variant:300414.0008	C0265339 301900 Borjeson-Forssman-Lehmann syndrome; C1857663 216340 Yunis Varon syndrome
NM_001015877.1(PHF6):c.134G>A (p.Cys45Tyr)	84295	PHF6	Pathogenic	132630299	RCV000011815;	N	MedGen:C0265339,OMIM:301900,ORPHA:127,SNOMED CT:21634003	X	133511781	133511781	NM_001015877.1:c.134G>A	NP_001015877.1:p.Cys45Tyr	NC_000023.10:g.133511781G>A	OMIM Allelic Variant:300414.0004	C0265339 301900 Borjeson-Forssman-Lehmann syndrome; C1857663 216340 Yunis Varon syndrome
NM_001015877.1(PHF6):c.296G>T (p.Cys99Phe)	84295	PHF6	Pathogenic	132630298	RCV000011813;	N	MedGen:C0265339,OMIM:301900,ORPHA:127,SNOMED CT:21634003	X	133527586	133527586	NM_001015877.1:c.296G>T	NP_001015877.1:p.Cys99Phe	NC_000023.10:g.133527586G>T	OMIM Allelic Variant:300414.0002	C0265339 301900 Borjeson-Forssman-Lehmann syndrome; C1857663 216340 Yunis Varon syndrome
NM_001015877.1(PHF6):c.418G>A (p.Ala140Thr)	84295	PHF6	Pathogenic	864309532	RCV000202613;	N	MedGen:C0265339,OMIM:301900,ORPHA:127,SNOMED CT:21634003	X	133527982	133527982	NM_001015877.1:c.418G>A	NP_001015877.1:p.Ala140Thr	NC_000023.10:g.133527982G>A	-	C0265339 301900 Borjeson-Forssman-Lehmann syndrome; C1857663 216340 Yunis Varon syndrome
NM_001015877.1(PHF6):c.686A>G (p.His229Arg)	84295	PHF6	Pathogenic	104894918	RCV000011816;	N	MedGen:C0265339,OMIM:301900,ORPHA:127,SNOMED CT:21634003	X	133547953	133547953	NM_001015877.1:c.686A>G	NP_001015877.1:p.His229Arg	NC_000023.10:g.133547953A>G	OMIM Allelic Variant:300414.0005	C0265339 301900 Borjeson-Forssman-Lehmann syndrome; C1857663 216340 Yunis Varon syndrome
NM_001015877.1(PHF6):c.700A>G (p.Lys234Glu)	84295	PHF6	Pathogenic	104894917	RCV000011814;	N	MedGen:C0265339,OMIM:301900,ORPHA:127,SNOMED CT:21634003	X	133547967	133547967	NM_001015877.1:c.700A>G	NP_001015877.1:p.Lys234Glu	NC_000023.10:g.133547967A>G	OMIM Allelic Variant:300414.0003	C0265339 301900 Borjeson-Forssman-Lehmann syndrome; C1857663 216340 Yunis Varon syndrome
NM_001015877.1(PHF6):c.769A>G (p.Arg257Gly)	84295	PHF6	Pathogenic	104894919	RCV000011818;	N	MedGen:C0265339,OMIM:301900,ORPHA:127,SNOMED CT:21634003	X	133549085	133549085	NM_001015877.1:c.769A>G	NP_001015877.1:p.Arg257Gly	NC_000023.10:g.133549085A>G	OMIM Allelic Variant:300414.0007	C0265339 301900 Borjeson-Forssman-Lehmann syndrome; C1857663 216340 Yunis Varon syndrome
NM_001015877.1(PHF6):c.914G>T (p.Cys305Phe)	84295	PHF6	Pathogenic	587777489	RCV000128447;	N	MedGen:C0265339,OMIM:301900,ORPHA:127,SNOMED CT:21634003	X	133551278	133551278	NM_001015877.1:c.914G>T	NP_001015877.1:p.Cys305Phe	X:g.133551278G>T	OMIM Allelic Variant:300414.0011	C0265339 301900 Borjeson-Forssman-Lehmann syndrome; C1857663 216340 Yunis Varon syndrome
NM_001015877.1(PHF6):c.1024C>T (p.Arg342Ter)	84295	PHF6	Pathogenic	132630297	RCV000011812;	N	MedGen:C0265339,OMIM:301900,ORPHA:127,SNOMED CT:21634003	X	133559286	133559286	NM_001015877.1:c.1024C>T	NP_001015877.1:p.Arg342Ter	NC_000023.10:g.133559286C>T	OMIM Allelic Variant:300414.0001	C0265339 301900 Borjeson-Forssman-Lehmann syndrome; C1857663 216340 Yunis Varon syndrome