ORPHA:88919
Autosomal recessive Alport syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
This disease is described under Alport syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive Alport syndrome | |
| fr | Syndrome d'Alport autosomique récessif | |
| de | Alport-Syndrom, autosomal-rezessives | |
| es | Síndrome de Alport tipo recesivo | |
| it | Sindrome di Alport, tipo autosomico recessivo | |
| nl | Autosomaal recessief syndroom van Alport | Glomerulair basaal membraanziekte door een COL4A-mutatie |
| pt | Síndrome Alport tipo recessivo | |
| pl | Autosomalny recesywny zespół Alporta | |
| cs | Autozomálně recesivní Alportův syndrom | |
| uk | Аутосомно-рецесивний синдром Альпорта | |
| zh | 常染色体隐性遗传Alport综合征 | |
| tr | Otozomal resesif Alport sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 203780 | BTNT | validated | |
| OMIM | 620536 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0008762 | E | validated | |
| MeSH | C536587 | E | validated | |
| UMLS | C1567744 | E | validated | |
| GARD | 625 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:63Alport syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare ophthalmic disorders; rare otorhinolaryngological diseases; rare transplant-related disorders
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL4A3 | Disease-causing germline mutation(s) in | Assessed | HGNC:2204 | ENSG00000169031 | 120070 | 2q36.3 | collagen type IV alpha 3 chain | 20301386[PMID] |
| COL4A4 | Disease-causing germline mutation(s) in | Assessed | HGNC:2206 | ENSG00000081052 | 120131 | 2q36.3 | collagen type IV alpha 4 chain | 20301386[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
15 annotations · validated 2026-05-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030034 | Glomerular basement membrane lamellation | |
| HP:0000790 | Hematuria | |
| HP:0000093 | Proteinuria | |
| HP:0000083 | Renal insufficiency | |
| HP:0008043 | Retinal arteriolar constriction | |
| Frequent (79-30%) | ||
| HP:0000365 | Hearing impairment | |
| HP:0001142 | Lenticonus | |
| HP:0000573 | Retinal hemorrhage | |
| HP:0003774 | Stage 5 chronic kidney disease | |
| Occasional (29-5%) | ||
| HP:0011501 | Anterior lenticonus | |
| HP:0000097 | Focal segmental glomerulosclerosis | |
| HP:0001095 | Hypertensive retinopathy | |
| HP:0012045 | Retinal flecks | |
| HP:0000523 | Subcapsular cataract | |
| Very rare (<4-1%) | ||
| HP:0000546 | Retinal degeneration | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 30985254[PMID]_24052634[PMID]_30717457[PMID]_24633401[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/88919
- This record as JSON: /data/d/88919.json