ORPHA:84090
Fibronectin glomerulopathy
Synonyms: GFND · Glomerulopathy with fibronectin deposits
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A primary glomerular disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fibronectin glomerulopathy | GFND · Glomerulopathy with fibronectin deposits |
| fr | Glomérulopathie à dépôts de fibronectine | |
| de | Fibronektin-Glomerulopathie | Glomerulopathie mit Fibronektin-Ablagerung (GFND) |
| es | Glomerulopatía por fibronectina | GFND · Glomerulopatía con depósitos de fibronectina |
| it | Glomerulopatia da fibronectina | GFND · Glomerulopatia con depositi di fibronectina |
| nl | Fibronectine-glomerulopathie | GFND · Glomerulopathie met fibronectineafzettingen |
| pt | Glumerolopatia de fibronectina | Glomerulopatia com depósitos de fibronectina (GFND) |
| pl | Glomerulopatia fibronektynowa | GFND · Glomerulopatia z depozytami fibronektyny |
| cs | Fibronektinová glomerulopatie | GFND · Glomerulopatie s depozity fibronektinu |
| uk | Фібронектинова гломерулопатія | GFND · Гломерулопатія з відкладенням фібронектину |
| zh | 纤连蛋白肾小球病 | 肾小球病伴纤连蛋白沉积 |
| tr | Fibronektin glomerülopati | GFND · Fibronektin birikimi ile seyreden glomerulopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 137950 | E | validated | |
| OMIM | 601894 | BTNT | validated | |
| ICD-10 | N07.6 | NTBT | attributed | validated |
| ICD-11 | MF81 | E | specific | validated |
| MONDO | 0007671 | E | validated | |
| MeSH | C536826 | E | validated | |
| UMLS | C3888104 | 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 (2):
- ORPHA:183586Genetic glomerular disease
rare genetic diseases - ORPHA:93548Glomerular disease
rare renal diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3778 | ENSG00000115414 | 135600 | 2q35 | fibronectin 1 | 18268355[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| 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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100820 | Glomerulopathy | |
| HP:0000822 | Hypertension | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0001966 | Mesangial abnormality | |
| HP:0002907 | Microscopic hematuria | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0010741 | Pedal edema | |
| HP:0000093 | Proteinuria | |
| HP:0000083 | Renal insufficiency | |
| Occasional (29-5%) | ||
| HP:0001342 | Cerebral hemorrhage | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 10074583[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/84090
- This record as JSON: /data/d/84090.json