Tangier disease
Synonyms: ATP-binding cassette transporter A1 deficiency · Analphalipoproteinemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
A rare, genetic neurometabolic disease characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with multifocal peripheral neuropathy, corneal, skin and nail and, occasionally, cardiovascular disease.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tangier disease | ATP-binding cassette transporter A1 deficiency · Analphalipoproteinemia |
| fr | Maladie de Tangier | Analphalipoprotéinémie · Déficit du transporteur à ATP-binding cassette A1 |
| de | Tangier-Krankheit | ATP-binding cassette-Transporter A1-Defekt · Analphalipoproteinämie |
| es | Enfermedad de Tangier | Analfalipoproteinemia · Casete transportador de unión a adenosina trifosfato A1 defectuoso · Deficiencia del casete transportador de unión a ATP A1 |
| it | Malattia di Tangier | Analfalipoproteinemia · Deficit del trasportatore a cassetta legante ATP · Deficit del trasportatore a cassetta legante l'adenosina trifosfato A1 |
| nl | Ziekte van Tangier | Analfalipoproteïnemie · ATP-binding cassette transporter A1-deficiëntie |
| pt | Doença de Tangier | |
| pl | Choroba Tangier | Analfalipoproteinemia · Defekt kasety wiążącej trójfosforan adenozyny transportera A1 · Niedobór kasety wiążącej ATP transportera A1 |
| cs | Tangierská nemoc | Deficit ATP-vázajícího kazetového transportéru A1 · Analfalipoproteinémie · Defektní adenozin trifosfát-vázající kazetový transportér A1 |
| uk | Хвороба Танжера | Анальфаліпопротеїнемія · Дефіцит АТФ-звязуючого касетного транспортера А1 |
| zh | 丹吉尔病 | 三磷酸腺苷结合盒转运体A1缺乏症 |
| tr | Tangier hastalığı | Analfalipoproteinemi · ATP bağlayıcı kaset taşıyıcı A1 eksikliği · Defektif adenozin trifosfat bağlayıcı kaset taşıyıcı A1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 205400 | E | validated | |
| ICD-10 | E78.6 | NTBT | attributed | validated |
| ICD-11 | 5C81.0 | NTBT | index | validated |
| MONDO | 0008783 | E | validated | |
| MeSH | D013631 | E | validated | |
| UMLS | C0039292 | E | validated | |
| GARD | 7731 | E | validated | |
| MedDRA | 10051875 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:31153Hypoalphalipoproteinemia
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:207021Rare hereditary systemic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABCA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:29 | ENSG00000165029 | 600046 | 9q31.1 | ATP binding cassette subfamily A member 1 | 10535983[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 185 cases | Worldwide | Case(s) | Validated | 27565770[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22913675[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
22 annotations · validated 2017-02-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002155 | Hypertriglyceridemia | |
| HP:0003146 | Hypocholesterolemia | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0004943 | Accelerated atherosclerosis | |
| HP:0002730 | Chronic noninfectious lymphadenopathy | |
| HP:0005145 | Coronary artery stenosis | |
| HP:0002460 | Distal muscle weakness | |
| HP:0000958 | Dry skin | |
| HP:0000656 | Ectropion | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0008404 | Nail dystrophy | |
| HP:0030814 | Orange discoloured tonsils | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0007133 | Progressive peripheral neuropathy | |
| Occasional (29-5%) | ||
| HP:0001903 | Anemia | |
| HP:0100546 | Carotid artery stenosis | |
| HP:0007957 | Corneal opacity | |
| HP:0001349 | Facial diplegia | |
| HP:0010829 | Impaired temperature sensition | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0003396 | Syringomyelia | |
| HP:0001873 | Thrombocytopenia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 18955690[PMID]_10431236[PMID]_10525055[PMID]_195100[PMID]_4165386[PMID]_10431238[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/31150
- This record as JSON: /data/d/31150.json