Details of Disease

General Information of Disease (ID: DIS12QS5)

• Disease Name: Bartsocas-Papas syndrome 1
• Synonyms: popliteal pterygium syndrome, Bartsocas-Papas type; popliteal pterygium syndrome lethal type; pterygium popliteal lethal type; multiple pterygium syndrome, Aslan type; pterygium, popliteal, lethal type; BPS; lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome; Bartsocas Papas syndrome; popliteal pterygium syndrome, lethal type; popliteal pterygium syndrome, Bartsocas-Papas type 1; autosomal recessive popliteal pterygium syndrome
• Definition: A rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.
• Disease Hierarchy:
  DISRS4H8: Popliteal pterygium syndrome
  DISLRS4M: Ectodermal dysplasia
  DISOGTFT: Hereditary lethal multiple congenital anomalies/dysmorphic syndrome
  DIS12QS5: Bartsocas-Papas syndrome 1
• Disease Identifiers:
  MONDO ID: MONDO_0009901
  MESH ID: C564874
  UMLS CUI: C1849718
  OMIM ID: 263650
  MedGen ID: 337894
  Orphanet ID: 1234
  SNOMED CT ID: 722376008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RIPK4	TTB4S01	Limited	Genetic Variation	[1]
DIO1	TTU3X26	Strong	Altered Expression	[2]
GUCY2C	TTLDPRG	Strong	Biomarker	[3]
NPR3	TTWVLS6	Strong	Biomarker	[3]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DIO2	OTGPNSLH	Strong	Altered Expression	[2]
IRF6	OTKJ44EV	Strong	Genetic Variation	[4]
NCOR2	OTY917X0	Strong	Posttranslational Modification	[5]

References

• [1] Crystal Structure of Ripk4 Reveals Dimerization-Dependent Kinase Activity.Structure. 2018 May 1;26(5):767-777.e5. doi: 10.1016/j.str.2018.04.002. Epub 2018 Apr 26.
• [2] Waterborne exposure to BPS causes thyroid endocrine disruption in zebrafish larvae.PLoS One. 2017 May 3;12(5):e0176927. doi: 10.1371/journal.pone.0176927. eCollection 2017.
• [3] Linaclotide Attenuates Visceral Organ Crosstalk: Role of Guanylate Cyclase-C Activation in Reversing Bladder-Colon Cross-Sensitization.J Pharmacol Exp Ther. 2018 Aug;366(2):274-281. doi: 10.1124/jpet.118.248567. Epub 2018 May 21.
• [4] Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.Am J Med Genet A. 2015 Mar;167A(3):545-52. doi: 10.1002/ajmg.a.36896.
• [5] Biomarkers in the diagnosis and symptom assessment of patients with bladder pain syndrome: a systematic review.Int Urogynecol J. 2019 Nov;30(11):1785-1794. doi: 10.1007/s00192-019-04075-9. Epub 2019 Aug 13.