Details of Disease

General Information of Disease (ID: DISYK0UH)

Disease Name Hartnup disease
Synonyms HND; neutral 1 amino acid transport defect; aminoaciduria, Hartnup type; neutral amino acid transport defect; Hartnup disease; Hartnup disorder; deficiency of tryptophan oxygenase
Definition
Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).
Disease Hierarchy
DIS1BLHT: Inborn disorder of amino acid transport
DISYK0UH: Hartnup disease
Disease Identifiers
MONDO ID
MONDO_0009324
MESH ID
D006250
UMLS CUI
C0018609
OMIM ID
234500
MedGen ID
6723
Orphanet ID
2116
SNOMED CT ID
124208000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ACE2 TTUI5H7 Strong Genetic Variation [1]
IDUA TT0IUKX Strong Biomarker [2]
TTK TTP7EGM Strong Biomarker [2]
EGLN1 TT9ISBX Definitive Biomarker [3]
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This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC6A19 DTOTAUP Definitive Autosomal recessive [4]
SLC6A19 DTOTAUP Definitive Biomarker [5]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CLTRN OTXGFJ3F Supportive Autosomal recessive [6]
MPEG1 OT7DAO0F Strong Biomarker [2]
RPS27 OTFXKY7P Strong Biomarker [2]
PHC2 OTG7ZO80 Definitive Biomarker [3]
SLC6A19 OT04I3OW Definitive Autosomal recessive [4]
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References

1 Angiotensin-converting enzyme 2 (ACE2) in disease pathogenesis.Circ J. 2010 Mar;74(3):405-10. doi: 10.1253/circj.cj-10-0045. Epub 2010 Feb 4.
2 Long-term nonsense suppression therapy moderates MPS I-H disease progression.Mol Genet Metab. 2014 Mar;111(3):374-381. doi: 10.1016/j.ymgme.2013.12.007. Epub 2013 Dec 17.
3 Genetic mapping of hph2, a mutation affecting amino acid transport in the mouse.Mamm Genome. 1997 Feb;8(2):98-101. doi: 10.1007/s003359900366.
4 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
5 Identification and Characterization of Inhibitors of a Neutral Amino Acid Transporter, SLC6A19, Using Two Functional Cell-Based Assays. SLAS Discov. 2019 Feb;24(2):111-120.
6 Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease. Am J Med Genet A. 2019 Dec;179(12):2459-2468. doi: 10.1002/ajmg.a.61357. Epub 2019 Sep 13.