ORPHA:85448
AGel amyloidosis
Synonyms: Familial amyloid polyneuropathy type IV · Familial amyloidosis, Finnish type · Gelsolin amyloidosis · Hereditary amyloidosis, Finnish type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | AGel amyloidosis | Familial amyloid polyneuropathy type IV · Familial amyloidosis, Finnish type · Gelsolin amyloidosis · Hereditary amyloidosis, Finnish type |
| fr | Amylose AGel | Amylose familiale type finlandais · Amylose finlandaise · Amylose à Gelsoline · Polyneuropathie amyloïde familiale type 4 |
| de | Agel-Amyloidose | Amyloidose, familiäre, finnischer Typ · Amyloidose, hereditäre, finnischer Typ · Amyloidpolyneuropathie, familiäre, Typ 4 · Gelsolin-Amyloidose |
| es | Amiloidosis AGel | Amiloidosis familiar tipo finlandés · Amiloidosis hereditaria tipo finlandés · Amiloidosis por gelsolina · Polineuropatía amiloide familiar tipo IV |
| it | Amiloidosi AGel | Amiloidosi da gelsolina · Amiloidosi ereditaria, tipo finlandese · Amiloidosi familiare, tipo finlandese · Polineuropatia amiloide familiare, tipo IV |
| nl | AGel-amyloïdose | Erfelijke amyloïdose, Fins type · Familiale amyloïde polyneuropathie type IV · Familiale amyloïdose, Fins type · Gelsoline-amyloïdose |
| pt | Amiloidose familiar tipo finlandês | |
| pl | Amyloidoza Agel | Amyloidoza gelsolinowa · Dziedziczna amyloidoza, typ fiński · Rodzinna amyloidoza, typ fiński · Rodzinna polineuropatia amyloidowa typu 4 |
| cs | AGel amyloidóza | Familiární amyloidní polyneuropatie, typ IV · Familiární amyloidóza, finský typ · Gelsolinova amyloidóza · Hereditární amyloidóza, finský typ |
| uk | Амілоїдоз AGel | Сімейна амілоїдна полінейропатія IV типу · Сімейний амілоїдоз, фінський тип · Гельсоліновий амілоїдоз · Спадковий амілоїдоз, фінський тип |
| zh | 凝溶胶蛋白型淀粉样变 | 家族性淀粉样多神经病IV型 |
| tr | AGel amiloidoz | Gelsolin amiloidoz · Ailesel amiloidoz, Fin tipi · Kalıtsal amiloidoz, Fin tipi · Ailesel amiloid polinöropati tip IV |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 105120 | E | validated | |
| ICD-10 | E85.1 | NTBT | attributed | validated |
| ICD-11 | 5D00.2Y | NTBT | index | validated |
| MONDO | 0007097 | E | validated | |
| UMLS | C0936273 | E | validated | |
| GARD | 2339 | 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 (4):
- ORPHA:69Amyloidosis
rare systemic and rheumatological diseases - ORPHA:444116Hereditary amyloidosis
rare genetic diseases - ORPHA:207021Rare hereditary systemic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:98628Syndromic corneal dystrophy
rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GSN | Disease-causing germline mutation(s) in | Assessed | HGNC:4620 | ENSG00000148180 | 137350 | 9q33.2 | gelsolin | 16258946[PMID]_22068858[PMID]_22622774[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 475 cases | Worldwide | Case(s) | Validated | 9547007[PMID]_17097682[PMID]_14639586[PMID]_20229579[PMID]_22068858[PMID]_2262277[PMID]_10729296[PMID]_[EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
45 annotations · validated 2024-04-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0001488 | Bilateral ptosis | |
| HP:0001005 | Dermatological manifestations of systemic disorders | |
| HP:0000958 | Dry skin | |
| HP:0001097 | Keratoconjunctivitis sicca | |
| HP:0001149 | Lattice corneal dystrophy | |
| Frequent (79-30%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| HP:0011675 | Arrhythmia | |
| HP:0001251 | Ataxia | |
| HP:0000978 | Bruising susceptibility | |
| HP:0000518 | Cataract | |
| HP:0012185 | Constrictive median neuropathy | |
| HP:0012804 | Corneal ulceration | |
| HP:0000973 | Cutis laxa | |
| HP:0007067 | Distal peripheral sensory neuropathy | |
| HP:0002015 | Dysphagia | |
| HP:0000969 | Edema | |
| HP:0010628 | Facial palsy | |
| HP:0000365 | Hearing impairment | |
| HP:0002411 | Myokymia | |
| HP:0001271 | Polyneuropathy | |
| HP:0007663 | Reduced visual acuity | |
| HP:0011356 | Regional abnormality of skin | |
| HP:0000505 | Visual impairment | |
| HP:0000217 | Xerostomia | |
| Occasional (29-5%) | ||
| HP:0025408 | Abnormal spleen morphology | |
| HP:0010749 | Blepharochalasis | |
| HP:0001638 | Cardiomyopathy | |
| HP:0007488 | Diffuse skin atrophy | |
| HP:0001260 | Dysarthria | |
| HP:0000501 | Glaucoma | |
| HP:0000597 | Ophthalmoparesis | |
| HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | |
| HP:0000093 | Proteinuria | |
| HP:0000989 | Pruritus | |
| HP:0000763 | Sensory neuropathy | |
| HP:0010535 | Sleep apnea | |
| HP:0008070 | Sparse hair | |
| HP:0012473 | Tongue atrophy | |
| Very rare (<4-1%) | ||
| HP:0002483 | Bulbar signs | |
| HP:0002549 | Deficit in phonologic short-term memory | |
| HP:0000716 | Depression | |
| HP:0008404 | Nail dystrophy | |
| HP:0011947 | Respiratory tract infection | |
| HP:0003774 | Stage 5 chronic kidney disease | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 26339870[PMID]_23356404[PMID]_25097823[PMID]_25342098[PMID]_27879149[PMID]_7836945[PMID]_1333716[PMID]_33908214[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85448
- This record as JSON: /data/d/85448.json