Details of Disease

General Information of Disease (ID: DISYJTLT)

Disease Name 46,XY sex reversal 11
Synonyms
testicular regression, embryonic; anorchia, familial; XY gonadal agenesis syndrome; TRS; embryonic testicular regression syndrome; testicular regression syndrome; vanishing testes syndrome; SRXY11; vanishing testis syndrome; ETRS; 46, XY sex reversal 11
Definition Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene.
Disease Hierarchy
DISLF3LT: 46,XY complete gonadal dysgenesis
DISYJTLT: 46,XY sex reversal 11
Disease Identifiers
MONDO ID
MONDO_8000015
MESH ID
C537770
UMLS CUI
C0266427
OMIM ID
273250
MedGen ID
78602
HPO ID
HP:0012870
SNOMED CT ID
53599007

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
HTR3A TTPC4TU Strong Genetic Variation [1]
HTR4 TT07C3Y Strong Biomarker [2]
------------------------------------------------------------------------------------
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DHX37 OTM1A5KP Strong Autosomal dominant [3]
EGFLAM OTACZZJ0 Definitive Genetic Variation [4]
SPART OTIVOS2I Definitive Genetic Variation [5]
------------------------------------------------------------------------------------

References

1 Outcome definitions and clinical predictors influence pharmacogenetic associations between HTR3A gene polymorphisms and response to clozapine in patients with schizophrenia.Psychopharmacology (Berl). 2012 Dec;224(3):441-9. doi: 10.1007/s00213-012-2773-2. Epub 2012 Jun 15.
2 Relationship between three serotonin receptor subtypes (HTR3A, HTR2A and HTR4) and treatment-resistant schizophrenia in the Japanese population.Neurosci Lett. 2008 Apr 18;435(2):95-8. doi: 10.1016/j.neulet.2008.01.083. Epub 2008 Feb 16.
3 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
4 Structural divergence of essential triad ribbon synapse proteins among placental mammals - Implications for preclinical trials in photoreceptor transplantation therapy.Exp Eye Res. 2017 Jun;159:156-167. doi: 10.1016/j.exer.2017.03.005. Epub 2017 Mar 18.
5 SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet. 2002 Aug;31(4):347-8. doi: 10.1038/ng937. Epub 2002 Jul 22.