Hartnup disease
Findings
No curated finding names Hartnup disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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).
Definition from the Mondo Disease Ontology (MONDO:0009324), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
36 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 1 reported patient
- Cutaneous photosensitivityHPOHP:0000992
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Elevated urinary indoleacetic acid levelHPOHP:6000332
- 2 of 2 reported patients
- Generalized tonic seizureHPOHP:0010818
- 1 of 1 reported patient
- HyperactivityHPOHP:0000752
- 1 of 1 reported patient
Show the remaining 24
- Emotional labilityHPOHP:0000712
- Very frequent (80% to 99% of cases)
- HallucinationsHPOHP:0000738
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- MigraineHPOHP:0002076
- Very frequent (80% to 99% of cases)
- Abnormality of visionHPOHP:0000504
- Frequent (30% to 79% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC6A19HGNC:27960
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2019
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- CLTRNHGNC:29437
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: Hartnup disease
- Also called
- aminoaciduria, Hartnup typeHartnup disorder