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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.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

The E3 ubiquitin ligase MID1/TRIM18 promotes atypical ubiquitination of the BRCA2-associated factor 35, BRAF35.
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
Genitourinary anomalies of pediatric FG syndrome.
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
MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified.
Ferrentino R, Bassi MT, Chitayat D, Tabolacci E, Meroni G
Hum Mutat 2007 Feb;28(2):206-7. doi: 10.1002/humu.9480. PMID: 17221865
Isolation and characterisation of the chick orthologue of the Opitz syndrome gene, Mid1, supports a conserved role in vertebrate development.
Richman JM, Fu KK, Cox LL, Sibbons JP, Cox TC
Int J Dev Biol 2002;46(4):441-8. PMID: 12141430
Molecular basis of androgen insensitivity.
Brinkmann A, Jenster G, Ris-Stalpers C, van der Korput H, Brüggenwirth H, Boehmer A, Trapman J
Steroids 1996 Apr;61(4):172-5. doi: 10.1016/0039-128x(96)00008-6. PMID: 8732995

Diagnosis

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome type 1 with an 814 kb Xq26.2 deletion with the initial presentation of a thick nuchal fold.
Peng HH, Yu CJ, Chen YC, Hsu CC, Chang SD, Chueh HY, Chang YL, Cheng PJ, Lee YC
Taiwan J Obstet Gynecol 2023 Jan;62(1):163-166. doi: 10.1016/j.tjog.2022.06.019. PMID: 36720533
SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome.
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
Onset Manifestations of Spinal and Bulbar Muscular Atrophy (Kennedy's Disease).
Finsterer J, Soraru G
J Mol Neurosci 2016 Mar;58(3):321-9. Epub 2015 Oct 19 doi: 10.1007/s12031-015-0663-x. PMID: 26482145
Genitourinary anomalies of pediatric FG syndrome.
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
The FG syndrome: report of a large Italian series.
Battaglia A, Chines C, Carey JC
Am J Med Genet A 2006 Oct 1;140(19):2075-9. doi: 10.1002/ajmg.a.31302. PMID: 16691600

Therapy

Androgen resistance associated with a qualitative abnormality of the androgen receptor and responsive to high dose androgen 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

Opitz syndrome: improving clinical interpretation of intronic variants in MID1 gene.
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
Prenatal diagnosis of maternally inherited X-linked Opitz G/BBB syndrome by chromosomal microarray in a fetus with complex congenital heart disease.
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
Genitourinary anomalies of pediatric FG syndrome.
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
ARX mutations in X-linked lissencephaly with abnormal genitalia.
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
Androgen resistance associated with a qualitative abnormality of the androgen receptor and responsive to high dose androgen 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

Clinical prediction guides

Opitz syndrome: improving clinical interpretation of intronic variants in MID1 gene.
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
SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome.
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
Structural and functional observations of the P151L MID1 mutation reveal alpha4 plays a significant role in X-linked Opitz Syndrome.
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
XLOS-observed mutations of MID1 Bbox1 domain cause domain unfolding.
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
The FG syndrome: report of a large Italian series.
Battaglia A, Chines C, Carey JC
Am J Med Genet A 2006 Oct 1;140(19):2075-9. doi: 10.1002/ajmg.a.31302. PMID: 16691600

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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