ORPHA:88917
X-linked Alport syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked dominant
- 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 | X-linked Alport syndrome | |
| fr | Syndrome d'Alport lié à l'X | |
| de | Alport-Syndrom, X-chromosomales | |
| es | Síndrome de Alport ligado al cromosoma X | |
| it | Sindrome di Alport legata all'X | |
| nl | X-gebonden syndroom van Alport | |
| pt | Síndrome Alport ligada ao X | |
| pl | Zespół Alporta sprzężony z chromosomem X | |
| cs | X-vázaný Alportův syndrom | |
| uk | Х-зчеплений синдром Альпорта | |
| zh | X连锁Alport综合征 | |
| tr | X'e bağlı Alport sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301050 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0010520 | E | validated | |
| UMLS | C1567742 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL4A5 | Disease-causing germline mutation(s) in | Assessed | HGNC:2207 | ENSG00000188153 | 303630 | Xq22.3 | collagen type IV alpha 5 chain | 20301386[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.25 / 100 000 | Sweden | Value and class | Validated | 16114783[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet 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.
6
HPO phenotypes
19 annotations · validated 2026-05-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002907 | Microscopic hematuria | |
| HP:0000093 | Proteinuria | |
| Frequent (79-30%) | ||
| HP:0011501 | Anterior lenticonus | |
| HP:0030034 | Glomerular basement membrane lamellation | |
| HP:0000365 | Hearing impairment | |
| HP:0000822 | Hypertension | |
| HP:0012587 | Macroscopic hematuria | |
| HP:0005562 | Multiple renal cysts | |
| HP:0000083 | Renal insufficiency | |
| HP:0008043 | Retinal arteriolar constriction | |
| HP:0000573 | Retinal hemorrhage | |
| HP:0003774 | Stage 5 chronic kidney disease | |
| Occasional (29-5%) | ||
| HP:0000483 | Astigmatism | |
| HP:0000518 | Cataract | |
| HP:0001095 | Hypertensive retinopathy | |
| HP:0000545 | Myopia | |
| HP:0012045 | Retinal flecks | |
| Very rare (<4-1%) | ||
| HP:0011508 | Macular hole | |
| HP:0000100 | Nephrotic syndrome | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 38178635[PMID]_37100867[PMID]_33748275[PMID]_33330536[PMID]_21380623[PMID]_20378821[PMID]_30985254[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/88917
- This record as JSON: /data/d/88917.json