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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: Cleft Lip (D002971)
Parent Node: Cleft Palate (D002972)
Parent Node: Eye Abnormalities (D005124)
Parent Node: Lower Extremity Deformities, Congenital (D038061)
Parent Node: Syndactyly (D013576)
Parent Node: Urogenital Abnormalities (D014564)
..Starting node ..Popliteal Pterygium Syndrome (C562509)
Child Nodes:
Sister Nodes:
..Allanson Pantzar McLeod syndrome (C537048) 1
..ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
..Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects (C563994)
..B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..Bladder Exstrophy (D001746) 1
..Calabro syndrome (C537960)
..Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Cryptorchidism (D003456) 12
..Disorders of Sex Development (D012734) 107
..DK Phocomelia Syndrome (C565618)
..Duker Weiss Siber syndrome (C535719)
..Epispadias (D004842) 1
..Genitopatellar Syndrome (C565255)
..Genitourinary Tract Anomalies (C564424)
..Hand foot uterus syndrome (C535627)
..Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities (C563935)
..Hypospadias (D007021) 17
..Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
..Lissencephaly, X-Linked, 2 (C564563)
..Microcephaly seizures genital hypoplasia (C537540)
..Microphthalmia, Syndromic 6 (C566440)
..Multicystic Dysplastic Kidney (D021782) 2
..Myotubular Myopathy with Abnormal Genital Development (C564561)
..Nephritis, Hereditary (D009394) 11
..Nephrosis deafness urinary tract digital malformation (C536402)
..Noduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..Omphalocele exstrophy imperforate anus (C537748)
..Piepkorn Karp Hickok syndrome (C535774)
..Popliteal Pterygium Syndrome (C562509)
..Proud Syndrome (C563110)
..Pyelectasis (D058536)
..Renal Adysplasia (C563261)
..Renal dysplasia - limb defects syndrome (C537754)
..Renal, Genital, and Middle Ear Anomalies (C564849)
..Retrocaval Ureter (D064749)
..Robinow Syndrome, Autosomal Dominant (C562492)
..Rosselli-Gulienetti Syndrome (C563117)
..Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
..Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies (C564799)
..Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
..Ureter, Bifid Or Double (C566012)
..Urinary Fistula (D014548) 2
..Uterine Anomalies (C562565)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9131

Name:

Popliteal Pterygium Syndrome

Definition:

Alternative IDs:

OMIM:119500

ParentIDs:

TreeNumbers:

C05.116.099.370.894.819/C562509 |C05.500.460.185/C562509 |C05.660.207.540.460.185/C562509 |C05.660.585.512/C562509 |C05.660.585.800/C562509 |C05.660.906.819/C562509 |C07.320.440.185/C562509 |C07.465.409.225/C562509 |C07.465.525.164/C562509 |C07.465.525.185/C56250

Synonyms:

Cleft Lip/Palate, Paramedian Mucous Cysts Of The Lower Lip, Popliteal Pterygium, Digital And Genital Anomalies |Faciogenitopopliteal Syndrome |Facio-Genito-Popliteal Syndrome |PPS

Slim Mappings:

Reference:

MedGen: C562509
MeSH: C562509
OMIM: 119500;

Genes: IRF6;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0009755	Ankyloblepharon
3	HP:0000048	Bifid scrotum
4	HP:0000175	Cleft palate
5	HP:0000204	Cleft upper lip
6	HP:0000028	Cryptorchidism
7	HP:0010554	Cutaneous finger syndactyly
8	HP:0000726	Dementia
9	HP:0009754	Fibrous syngnathia
10	HP:0000013	Hypoplasia of the uterus
11	HP:0008726	Hypoplasia of the vagina
12	HP:0000059	Hypoplastic labia majora
13	HP:0009757	Intercrural pterygium
14	HP:0000196	Lower lip pit
15	HP:0009756	Popliteal pterygium
16	HP:0009758	Pyramidal skinfold extending from the base to the top of the nails
17	HP:0000046	Scrotal hypoplasia
18	HP:0003298	Spina bifida occulta
19	HP:0001762	Talipes equinovarus

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_006147.3(IRF6):c.1271C>T (p.Ser424Leu)	3664	IRF6	Pathogenic	387906968	RCV000023631;	N	MedGen:C0265259,OMIM:119500,ORPHA:294963,SNOMED CT:66783006	1	209961898	209961898	NM_006147.3:c.1271C>T	NP_006138.1:p.Ser424Leu	NC_000001.10:g.209961898G>A	OMIM Allelic Variant:607199.0016	C0265259 119500 Popliteal pterygium syndrome
NM_006147.3(IRF6):c.1177C>T (p.Gln393Ter)	3664	IRF6	Pathogenic	121434225	RCV000003582;	N	MedGen:C0265259,OMIM:119500,ORPHA:294963,SNOMED CT:66783006	1	209963014	209963014	NM_006147.3:c.1177C>T	NP_006138.1:p.Gln393Ter	NC_000001.10:g.209963014G>A	OMIM Allelic Variant:607199.0003	C0265259 119500 Popliteal pterygium syndrome
NM_006147.3(IRF6):c.1016G>T (p.Arg339Ile)	3664	IRF6	Pathogenic	121434231	RCV000003592; RCV000023627;	N	MedGen:C0175697,OMIM:119300,ORPHA:888,SNOMED CT:79261008; MedGen:C0265259,OMIM:119500,ORPHA:294963,SNOMED CT:66783006	1	209963884	209963884	NM_006147.3:c.1016G>T	NP_006138.1:p.Arg339Ile	NC_000001.10:g.209963884C>A	OMIM Allelic Variant:607199.0013	C0265259 119500 Popliteal pterygium syndrome; C0175697 119300 Van der Woude syndrome
NM_006147.3(IRF6):c.251G>A (p.Arg84His)	3664	IRF6	Pathogenic	121434227	RCV000003584;	N	MedGen:C0265259,OMIM:119500,ORPHA:294963,SNOMED CT:66783006	1	209969821	209969821	NM_006147.3:c.251G>A	NP_006138.1:p.Arg84His	NC_000001.10:g.209969821C>A,NC_000001.10:g.209969821C>T	OMIM Allelic Variant:607199.0005	C0265259 119500 Popliteal pterygium syndrome
NM_006147.3(IRF6):c.251G>T (p.Arg84Leu)	3664	IRF6	Pathogenic	121434227	RCV000023630;	N	MedGen:C0265259,OMIM:119500,ORPHA:294963,SNOMED CT:66783006	1	209969821	209969821	NM_006147.3:c.251G>T	NP_006138.1:p.Arg84Leu	NC_000001.10:g.209969821C>A,NC_000001.10:g.209969821C>T	OMIM Allelic Variant:607199.0015	C0265259 119500 Popliteal pterygium syndrome
NM_006147.3(IRF6):c.250C>T (p.Arg84Cys)	3664	IRF6	Pathogenic	121434226	RCV000003583;	N	MedGen:C0265259,OMIM:119500,ORPHA:294963,SNOMED CT:66783006	1	209969822	209969822	NM_006147.3:c.250C>T	NP_006138.1:p.Arg84Cys	NC_000001.10:g.209969822G>A	OMIM Allelic Variant:607199.0004	C0265259 119500 Popliteal pterygium syndrome
NM_006147.3(IRF6):c.65T>C (p.Leu22Pro)	3664	IRF6	Pathogenic	387906967	RCV000023628; RCV000023629;	N	MedGen:C0175697,OMIM:119300,ORPHA:888,SNOMED CT:79261008; MedGen:C0265259,OMIM:119500,ORPHA:294963,SNOMED CT:66783006	1	209974694	209974694	NM_006147.3:c.65T>C	NP_006138.1:p.Leu22Pro	NC_000001.10:g.209974694A>G	OMIM Allelic Variant:607199.0014	C0265259 119500 Popliteal pterygium syndrome; C0175697 119300 Van der Woude syndrome