ATTRV30M amyloidosis
Synonyms: ATTRV30M-related amyloidosis · Hereditary ATTRV30M-related amyloidosis
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare hereditary ATTR amyloidosis (hATTR) characterized by a progressive, length-dependent sensorimotor axonal polyneuropathy and/or autonomic neuropathy in adulthood. Renal, ocular and cardiac involvement also frequently occurs. Two different phenotypes are associated with this mutation, namely early-onset V30M and late-onset V30M, that differ in terms of age on onset (<50 years or >50 years, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ATTRV30M amyloidosis | ATTRV30M-related amyloidosis · Hereditary ATTRV30M-related amyloidosis |
| fr | Amylose ATTRV30M | Amylose associée à TTRV30M · Amylose héréditaire associée à TTRV30M |
| de | ATTRV30M-Amyloidose | Hereditäre ATTRV30M-assoziierte Amyloidose |
| es | Amiloidosis ATTRV30M | Amiloidosis asociada a ATTRV30M · Amiloidosis asociada a ATTRV30M hereditaria |
| it | Amiloidosi ATTRV30M | Amiloidosi ATTRV30M-correlata · Amiloidosi ATTRV30M-correlata ereditaria |
| nl | ATTRV30M-amyloïdose | ATTRV30M-gerelateerde amyloïdose · Hereditaire ATTRV30M-gerelateerde amyloïdose |
| pt | Amiloidose ATTRV30M | Amiloidose ATTRV30M-relacionada · Amiloidose ATTRV30M-relacionada hereditária |
| pl | Amyloidoza ATTRV30M | Amyloidoza zależna od ATTRV30M · Neuropatia amyloidowa TTR · Rodzinna polineuropatia amyloidowa typu I (typ portugalsko-szwedzko-japoński) · Transtyretynowa neuropatia amyloidowa · Transtyretynowa polineuropatia amyloidowa |
| cs | ATTRV30M amyloidóza | ATTRV30M-vázaná amyloidóza · Familiární amyloidní polyneuropatie, typ I (portugalsko-švédsko-japonský typ) · TTR amyloidní neuropatie · Transthyretin amyloidní neuropatie · Transthyretin amyloidní polyneuropatie |
| uk | Амілоїдоз ATTRV30M | Амілоїдоз, повязаний з ATTRV30M · Спадковий амілоїдоз, повязаний з ATTRV30M |
| zh | V30M突变型转甲状腺素蛋白型淀粉样变性 | 家族性淀粉样多神经病，Portuguese-Swedish-Japanese型 |
| tr | ATTRV30M amiloidoz | TTR amiloid nöropati · ATTRV30M-ilişkili amiloidoz · Transtiretin amiloid nöropati · Transtiretin amiloid polinöropati · Ailesel amiloid polinöropati tip I · Ailesel amiloid polinöropati, Portekiz-İsveç-Japon tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 105210 | NTBT | validated | |
| OMIM | 115430 | NTBT | validated | |
| ICD-10 | E85.1 | NTBT | attributed | validated |
| ICD-11 | 5D00.20 | NTBT | index | validated |
| MONDO | 0100552 | E | validated | |
| UMLS | C0268384 | 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 (2):
- ORPHA:271861Hereditary ATTR amyloidosis
rare cardiac diseases; rare genetic diseases; rare ophthalmic disorders; rare systemic and rheumatological diseases; rare transplant-related disorders - 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 |
|---|---|---|---|---|---|---|---|---|
| TTR | Disease-causing germline mutation(s) in | Assessed | HGNC:12405 | ENSG00000118271 | 176300 | 18q12.1 | transthyretin | 18925456[PMID] |
Prevalence and incidence
8 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 6-9 / 10 000 | 90 / 100 000 | Portugal | Value and class | Validated | 8825887[PMID]_24572009[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Japan | Value and class | Validated | [EXPERT]_23425518[PMID] |
| Annual incidence | 1-9 / 100 000 | 3.75 / 100 000 | Sweden | Value and class | Not yet validated | 8406517[PMID] |
| Point prevalence | 6-9 / 10 000 | 97.5 / 100 000 | Sweden | Value and class | Not yet validated | 8406517[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.69 / 100 000 | Cyprus | Value and class | Validated | 19291512[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.7 / 100 000 | Cyprus | Value and class | Validated | 19291512[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 3 / 100 000 | Spain | Value and class | Validated | 3210815[PMID]_12855135[PMID]_24572009[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
14 annotations · validated 2018-02-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000112 | Nephropathy | |
| HP:0001271 | Polyneuropathy | |
| Frequent (79-30%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0012211 | Abnormal renal physiology | |
| HP:0011675 | Arrhythmia | |
| HP:0001678 | Atrioventricular block | |
| HP:0001640 | Cardiomegaly | |
| HP:0001638 | Cardiomyopathy | |
| HP:0002019 | Constipation | |
| HP:0012185 | Constrictive median neuropathy | |
| HP:0002014 | Diarrhea | |
| HP:0000802 | Impotence | |
| HP:0100832 | Vitreous floaters | |
| HP:0001824 | Weight loss | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 20301373[PMID]_29249054[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85447
- This record as JSON: /data/d/85447.json