Neutral aminoaciduria with pellagra-like rash.
- Specialty
- Genetics
- Subspecialty
- Metabolic / Aminoacidurias
- Sex & age distribution
- Male: affected; Female: affected; Children: yes
- Gene(s) involved
- SLC6A19
- Alternative names & eponyms
- Hartnup disease
Etiology & mechanism
SLC6A19 loss.
Gene(s) involved (1)
Symptoms & signs (4)
In plain terms, someone with Hartnup syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Wolfram syndrome
ataxia, psychiatric symptoms
1 shared
Abetalipoproteinemia
ataxia
1 shared
Acquired cerebellar syndrome
ataxia
1 shared
Action myoclonus–renal failure syndrome
ataxia
1 shared
Angelman syndrome
ataxia
1 shared
Brown–Vialetto–Van Laere syndrome
ataxia
1 shared
Cerebral folate deficiency syndrome
ataxia
1 shared
Dandy–Walker malformation
ataxia
1 shared
Dravet syndrome
ataxia
1 shared
EAST syndrome
ataxia
Shares genes with
None.
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