Details of Disease | DrugMAP

General Information of Disease (ID: DISRS4H8)

Disease Name	Popliteal pterygium syndrome
Synonyms	PPS; facio-genito-popliteal syndrome
Definition	A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora.\|Editor notes: DO classifies as autosomal dominant, however there is an autosomal recessive subclass (Bartsocas-Papas).
Disease Hierarchy	DIS6SVEE: Syndromic disease DISHEGN6: Arthrogryposis syndrome DISRS4H8: Popliteal pterygium syndrome
Disease Identifiers	MONDO ID MONDO_0017435 MESH ID C562509 UMLS CUI C0265259 OMIM ID 119500 MedGen ID 78543 Orphanet ID 294963 SNOMED CT ID 66783006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AVPR2	TTK8R02	Strong	Biomarker	[1]
RIPK4	TTB4S01	Strong	Biomarker	[2]
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This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AQP2	OTQLBKK6	Limited	Biomarker	[3]
NHLH1	OTXN5B9R	Limited	Genetic Variation	[4]
FBXO7	OTGTN8TJ	moderate	Biomarker	[5]
B3GLCT	OTXH6KOQ	Strong	Biomarker	[6]
POFUT2	OT1MNJFZ	Strong	Biomarker	[7]
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References

1	Idiopathic Urethral Stricture and Nephrogenic Diabetes Insipidus: The Odd Couple.Cureus. 2019 Jul 4;11(7):e5076. doi: 10.7759/cureus.5076.
2	Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.Am J Med Genet A. 2017 Nov;173(11):3114-3117. doi: 10.1002/ajmg.a.38475. Epub 2017 Sep 21.
3	A COMBINED OUTPATIENT AND INPATIENT OVERNIGHT WATER DEPRIVATION TEST IS EFFECTIVE AND SAFE IN DIAGNOSING PATIENTS WITH POLYURIA-POLYDIPSIA SYNDROME.Endocr Pract. 2018 Nov;24(11):963-972. doi: 10.4158/EP-2018-0238. Epub 2018 Aug 14.
4	Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate.Cleft Palate Craniofac J. 2014 Jan;51(1):49-55. doi: 10.1597/11-220. Epub 2013 Feb 8.
5	Pathophysiological mechanisms linking F-box only protein 7 (FBXO7) and Parkinson's disease (PD).Mutat Res Rev Mutat Res. 2018 Oct-Dec;778:72-78. doi: 10.1016/j.mrrev.2018.10.001. Epub 2018 Oct 17.
6	Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome.PLoS One. 2017 Sep 19;12(9):e0184903. doi: 10.1371/journal.pone.0184903. eCollection 2017.
7	Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism.Curr Biol. 2015 Feb 2;25(3):286-295. doi: 10.1016/j.cub.2014.11.049. Epub 2014 Dec 24.