Hartnup syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: HARTNUP DISEASE
HND
Aminoaciduria, Hartnup type
Hartnup disorder
Number of Symptoms 34
OrphanetNr: 2116
OMIM Id: 234500
ICD-10: E72.0
UMLs: C0018609
MeSH: D006250
MedDRA: 10019165
Snomed: 124208000
80902009

Prevalence, inheritance and age of onset:

Prevalence: 4 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of neutral amino acid transport
 -Rare genetic disease
Genetic photodermatosis
 -Rare genetic disease
Nephropathy secondary to a storage or other metabolic disease
 -Rare genetic disease
 -Rare renal disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease
Rare photodermatosis
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0012086) Abnormal urinary color Very frequent [Orphanet] 19 / 7739
2
 (HPO:0008353) Neutral hyperaminoaciduria 1 / 7739
3
 (HPO:0000206) Glossitis Occasional [Orphanet] rare [HPO:skoehler] 9 / 7739
4
 (HPO:0000230) Gingivitis Occasional [Orphanet] 31 / 7739
5
 (HPO:0000478) Abnormality of the eye Frequent [Orphanet] 126 / 7739
6
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
7
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
8
 (HPO:0000613) Photophobia Frequent [Orphanet] 158 / 7739
9
 (HPO:0002383) Encephalitis Occasional [Orphanet] 41 / 7739
10
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
11
 (HPO:0002131) Episodic ataxia 16 / 7739
12
 (HPO:0001276) Hypertonia 317 / 7739
13
 (HPO:0100851) Abnormal emotion/affect behavior Very frequent [Orphanet] 85 / 7739
14
 (HPO:0002315) Headache Very frequent [Orphanet] 175 / 7739
15
 (HPO:0000709) Psychosis 61 / 7739
16
 (HPO:0001263) Global developmental delay 853 / 7739
17
 (HPO:0000712) Emotional lability 44 / 7739
18
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
19
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
20
 (HPO:0000738) Hallucinations Very frequent [Orphanet] 60 / 7739
21
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
22
 (HPO:0002024) Malabsorption Frequent [Orphanet] 142 / 7739
23
 (HPO:0004322) Short stature Frequent [Orphanet] Occasional [HPO:probinson] 1232 / 7739
24
 (HPO:0001053) Hypopigmented skin patches Occasional [Orphanet] 80 / 7739
25
 (HPO:0007400) Irregular hyperpigmentation Occasional [Orphanet] 72 / 7739
26
 (HPO:0000992) Cutaneous photosensitivity Very frequent [Orphanet] 75 / 7739
27
 (HPO:0000988) Skin rash Frequent [Orphanet] 98 / 7739
28
 (HPO:0200037) Skin vesicle Occasional [Orphanet] 102 / 7739
29
 (HPO:0004337) Abnormality of amino acid metabolism Very frequent [Orphanet] 45 / 7739
30
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
31
 (OMIM) Light-sensitive dermatitis 2 / 7739
32
 (MedDRA:10069085) Atrophic glossitis 1 / 7739
33
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
34
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM First described by Baron et al. (1956), this disorder is characterized by a pellagra-like light-sensitive rash, cerebellar ataxia, emotional instability, and amino aciduria. Scriver et al. (1985) suggested the existence of 2 forms of Hartnup disease: in the ...
Molecular genetics OMIM Using homozygosity mapping and fine mapping in the consanguineous English family in which Hartnup disorder was originally discovered, Kleta et al. (2004) confirmed previous results showing linkage to 5p15. Two members of the SLC6 family of transporters mapped ...
Population genetics OMIM Hartnup disease was found to have about the same frequency in Massachusetts as phenylketonuria, i.e., 1 in 14,219 births (Levy et al., 1972).