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Hypospadias 2, X-linked(HYSP2)

MedGen UID:
437064
Concept ID:
C2677879
Disease or Syndrome
Synonym: HYSP2
 
Gene (location): MAMLD1 (Xq28)
 
Monarch Initiative: MONDO:0010423
OMIM®: 300758

Clinical features

From HPO
Penoscrotal hypospadias
MedGen UID:
105291
Concept ID:
C0452147
Congenital Abnormality
A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum.

Recent clinical studies

Therapy

Grino PB, Isidro-Gutierrez RF, Griffin JE, Wilson JD
J Clin Endocrinol Metab 1989 Mar;68(3):578-84. doi: 10.1210/jcem-68-3-578. PMID: 2918059

Prognosis

Micale L, Russo F, Mascaro M, Morlino S, Nardella G, Fusco C, Bisceglia L, Meroni G, Castori M
Pediatr Res 2023 Apr;93(5):1208-1215. Epub 2022 Aug 11 doi: 10.1038/s41390-022-02237-y. PMID: 35953512
Cheng YK, Huang J, Law KM, Chan YM, Leung TY, Choy KW
Clin Chim Acta 2014 Sep 25;436:140-2. Epub 2014 May 23 doi: 10.1016/j.cca.2014.05.006. PMID: 24863803
Smith JF, Wayment RO, Cartwright PC, Snow BW, Opitz JM
J Urol 2007 Aug;178(2):656-9. Epub 2007 Jun 15 doi: 10.1016/j.juro.2007.04.007. PMID: 17574621
Uyanik G, Aigner L, Martin P, Gross C, Neumann D, Marschner-Schäfer H, Hehr U, Winkler J
Neurology 2003 Jul 22;61(2):232-5. doi: 10.1212/01.wnl.0000079371.19562.ba. PMID: 12874405
Grino PB, Isidro-Gutierrez RF, Griffin JE, Wilson JD
J Clin Endocrinol Metab 1989 Mar;68(3):578-84. doi: 10.1210/jcem-68-3-578. PMID: 2918059

Clinical prediction guides

Micale L, Russo F, Mascaro M, Morlino S, Nardella G, Fusco C, Bisceglia L, Meroni G, Castori M
Pediatr Res 2023 Apr;93(5):1208-1215. Epub 2022 Aug 11 doi: 10.1038/s41390-022-02237-y. PMID: 35953512
Migliore C, Vendramin A, McKee S, Prontera P, Faravelli F, Sachdev R, Dias P, Mascaro M, Licastro D, Meroni G
Genes (Basel) 2022 Jan 28;13(2) doi: 10.3390/genes13020252. PMID: 35205294Free PMC Article
Zanchetta ME, Napolitano LMR, Maddalo D, Meroni G
Biochim Biophys Acta Mol Cell Res 2017 Oct;1864(10):1844-1854. Epub 2017 Jul 29 doi: 10.1016/j.bbamcr.2017.07.014. PMID: 28760657
Wright KM, Du H, Massiah MA
FEBS J 2017 Jul;284(14):2183-2193. Epub 2017 Jun 14 doi: 10.1111/febs.14121. PMID: 28548391
Wright KM, Wu K, Babatunde O, Du H, Massiah MA
PLoS One 2014;9(9):e107537. Epub 2014 Sep 12 doi: 10.1371/journal.pone.0107537. PMID: 25216264Free PMC Article

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