ORPHA:2116
Hartnup disease
Synonyms: Aminoaciduria, Hartnup type · Hartnup disorder
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare metabolic disorder belonging to the neutral aminoacidurias, mainly characterized by skin photosensitivity, ocular and neuropsychiatric features, due to abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hartnup disease | Aminoaciduria, Hartnup type · Hartnup disorder |
| fr | Maladie de Hartnup | Aminoacidurie type Hartnup |
| de | Hartnup-Syndrom | Hartnup-Krankheit |
| es | Síndrome de Hartnup | Aminoaciduria tipo Hartnup · Trastorno de Hartnup |
| it | Sindrome di Hartnup | Aminoaciduria, tipo Hartnup · Malattia di Hartnup |
| nl | Ziekte van Hartnup | Aminoacidurie, Hartnup-type · Hartnupstoornis |
| pt | Síndrome Hartnup | |
| pl | Zespół Hartnupów | Aminoaciduria typu Hartnupów · Choroba Hartnupów |
| cs | Hartnupova nemoc | Hartnupova choroba · Aminoacidurie, Hartnupův typ |
| uk | Хвороба Хартнупа | Аміноацидурія, тип Хартнупа · Хвороба Хартнупа |
| zh | Hartnup病 | 氨基酸尿症，Hartnup型 |
| tr | Hartnup hastalığı | Hartnup bozukluğu · Aminoasidüri, Hartnup tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 234500 | E | validated | |
| ICD-10 | E72.0 | NTBT | inclusion | validated |
| ICD-11 | 5C60.Y | NTBT | index | validated |
| MONDO | 0009324 | E | validated | |
| MeSH | D006250 | E | validated | |
| UMLS | C0018609 | E | validated | |
| GARD | 6569 | E | validated | |
| MedDRA | 10019165 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:308451Disorder of neutral amino acid transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:183490Genetic photodermatosis
rare genetic diseases - ORPHA:93593Nephropathy secondary to a storage or other metabolic disease
rare genetic diseases; rare renal diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:79390Rare photodermatosis
rare skin diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CLTRN | Disease-causing germline mutation(s) in | Assessed | HGNC:29437 | ENSG00000147003 | 300631 | Xp22.2 | collectrin, amino acid transport regulator | 31520464[PMID] |
| SLC6A19 | Disease-causing germline mutation(s) in | Assessed | HGNC:27960 | ENSG00000174358 | 608893 | 5p15.33 | solute carrier family 6 member 19 | 15286787[PMID]_15286788[PMID] |
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Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.85 / 100 000 | United States | Value and class | Validated | ISBN:79130356[OTHER]_17555458[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.9 / 100 000 | Specific population | Value and class | Validated | ISBN:79130356[OTHER] |
| Point prevalence | 1-9 / 100 000 | 4 / 100 000 | United Kingdom | Value and class | Validated | 909480[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.2 / 100 000 | Worldwide | Value and class | Validated | ISBN:79130356[OTHER]_[EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 3.3 / 100 000 | Australia | Value and class | Validated | ISBN:79130356[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
30 annotations · validated 2024-05-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012086 | Abnormal urinary color | |
| HP:0000739 | Anxiety | |
| HP:0001251 | Ataxia | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0002353 | EEG abnormality | |
| HP:0000712 | Emotional lability | |
| HP:0000738 | Hallucinations | |
| HP:0001347 | Hyperreflexia | |
| HP:0001252 | Hypotonia | |
| HP:0002076 | Migraine | |
| HP:0008353 | Neutral hyperaminoaciduria | |
| Frequent (79-30%) | ||
| HP:0000504 | Abnormality of vision | |
| HP:6000130 | Elevated urinary indican level | |
| HP:0002024 | Malabsorption | |
| HP:0000639 | Nystagmus | |
| HP:0000613 | Photophobia | |
| HP:0000988 | Skin rash | |
| HP:0000486 | Strabismus | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0000230 | Gingivitis | |
| HP:0001263 | Global developmental delay | |
| HP:0000206 | Glossitis | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0002383 | Infectious encephalitis | |
| HP:0001249 | Intellectual disability | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0000709 | Psychosis | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 32644502[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2116
- This record as JSON: /data/d/2116.json