Details of Disease

General Information of Disease (ID: DISYKSRF)

Disease Name	Genetic disease
Synonyms	inborn disorder; familial disorder; Mendelian disease; genetic disorder; genetic disease; genetic condition; molecular disease; inherited genetic disease; inherited disease; hereditary diseases; hereditary disease or disorder; hereditary disease
Disease Class	8E02: Genetic prion disease
Definition	A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.\|Usage note: this is intended only for diseases with an inherited genetic etiology. Somatic genetic mutations are excluded. Some ontologies use the term 'genetic disease' in the sense of inherited disorders only, we are here careful to distinguish.
Disease Hierarchy	DISH7H5I: Human disease DISYKSRF: Genetic disease
ICD Code	ICD-11 ICD-11: 8E02 ICD-10 ICD-10: Q00-Q99
Disease Identifiers	MONDO ID MONDO_0003847 MESH ID D030342 UMLS CUI C0019247 MedGen ID 5527 SNOMED CT ID 32895009

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Asfotase alfa	DMM4FXA	Approved	NA	[1]
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This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
AE-IG	DMOPF49	Phase 1	NA	[2]
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This Disease is Treated as An Indication in 3 Discontinued Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
RF-1051	DMRP9LC	Discontinued in Phase 2	NA	[3]
AAV-GUS	DM59V8B	Terminated	NA	[4]
SDZ-GLI-328	DMZCG4I	Terminated	NA	[5]
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This Disease is Treated as An Indication in 4 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
ALTU-236	DMDLN9S	Investigative	NA	[6]
ATYR-1920	DMOYSO1	Investigative	NA	[7]
Human Alpha Antitrypsin	DM2X28V	Investigative	NA	[7]
SBC-104	DMO01W7	Investigative	NA	[7]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

References

1	ClinicalTrials.gov (NCT01176266) Open-Label Study of Asfotase Alfa in Infants and Children 5 Years of Age With Hypophosphatasia (HPP). U.S. National Institutes of Health.
2	Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800037427)
3	Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800006864)
4	Parkinson's disease gene therapy: success by design meets failure by efficacy. Mol Ther. 2014 Mar;22(3):487-97.
5	Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800007482)
6	URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Target id: 1240).
7	The ChEMBL database in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D945-D954.