ORPHA:63
Alport syndrome
Synonyms: Alport deafness-nephropathy · Alport hearing loss-nephropathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked dominant
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alport syndrome | Alport deafness-nephropathy · Alport hearing loss-nephropathy |
| fr | Syndrome d'Alport | Syndrome de surdité-néphropathie |
| de | Alport-Syndrom | Nephropathie-Taubheit-Syndrom |
| es | Síndrome de Alport | Hipoacusia-nefropatía de Alport · Sordera-nefropatía de Alport |
| it | Sindrome di Alport | Sordità - nefropatia di Alport |
| nl | Syndroom van Alport | Alport-doofheid - nefropathie · Alport-gehoorverlies - nefropathie |
| pt | Síndrome Alport | |
| pl | Zespół Alporta | Głuchota Alporta - nefropatia |
| cs | Alportův syndrom | Alportův syndrom s hluchotou a nefropatií |
| uk | Синдром Альпорта | Глухота-нефропатія Альпорта · Втрата слуху - нефропатія Альпорта |
| zh | Alport综合征 | Alport听力丧失-肾病 |
| tr | Alport sendromu | Alport sağırlık-nefropati · Alport işitme kaybı-nefropati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 104200 | BTNT | validated | |
| OMIM | 203780 | BTNT | validated | |
| OMIM | 301050 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | inclusion | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0018965 | E | validated | |
| MeSH | D009394 | E | validated | |
| UMLS | C1567741 | E | validated | |
| GARD | 5785 | E | validated | |
| MedDRA | 10001843 | 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 (5):
- ORPHA:544590Collagen-related glomerular basement membrane disease
rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:98655Lens shape anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:716427Rare disorder with progressive predominantly macular disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:98646Renal disease with cataract
rare genetic diseases; rare ophthalmic disorders
4
Genes
0 direct · 10 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| COL4A3 | ORPHA:88918Autosomal dominant Alport syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:2204 | ENSG00000169031 | 120070 | 2q36.3 | collagen type IV alpha 3 chain | 20301386[PMID] |
| COL4A3 | ORPHA:88919Autosomal recessive Alport syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:2204 | ENSG00000169031 | 120070 | 2q36.3 | collagen type IV alpha 3 chain | 20301386[PMID] |
| COL4A3 | ORPHA:653722Digenic Alport syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:2204 | ENSG00000169031 | 120070 | 2q36.3 | collagen type IV alpha 3 chain | 5675912[PMID]_34930753[PMID]_35547199[PMID] |
| COL4A4 | ORPHA:88918Autosomal dominant Alport syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:2206 | ENSG00000081052 | 120131 | 2q36.3 | collagen type IV alpha 4 chain | 9269635[PMID]_20301386[PMID]_15086897[PMID]_11572889[PMID]_19129241[PMID] |
| COL4A4 | ORPHA:88919Autosomal recessive Alport syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:2206 | ENSG00000081052 | 120131 | 2q36.3 | collagen type IV alpha 4 chain | 20301386[PMID] |
| COL4A4 | ORPHA:653722Digenic Alport syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:2206 | ENSG00000081052 | 120131 | 2q36.3 | collagen type IV alpha 4 chain | 5675912[PMID]_34930753[PMID]_35547199[PMID] |
| COL4A5 | ORPHA:88917X-linked Alport syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:2207 | ENSG00000188153 | 303630 | Xq22.3 | collagen type IV alpha 5 chain | 20301386[PMID] |
| COL4A5 | ORPHA:653722Digenic Alport syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:2207 | ENSG00000188153 | 303630 | Xq22.3 | collagen type IV alpha 5 chain | 5675912[PMID]_34930753[PMID]_35547199[PMID] |
| COL4A5 | ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis | Role in the phenotype of | Assessed | HGNC:2207 | ENSG00000188153 | 303630 | Xq22.3 | collagen type IV alpha 5 chain | 20951201[PMID] |
| COL4A6 | ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis | Role in the phenotype of | Assessed | HGNC:2208 | ENSG00000197565 | 303631 | Xq22.3 | collagen type IV alpha 6 chain | 20951201[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 1.9 / 100 000 | Finland | Value and class | Validated | 8955456[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.
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HPO phenotypes
34 annotations · validated 2026-04-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030034 | Glomerular basement membrane lamellation | |
| HP:0000790 | Hematuria | |
| Frequent (79-30%) | ||
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| HP:0000822 | Hypertension | |
| HP:0012574 | Mesangial hypercellularity | |
| HP:0000093 | Proteinuria | |
| HP:0007663 | Reduced visual acuity | |
| HP:0000083 | Renal insufficiency | |
| HP:0012045 | Retinal flecks | |
| HP:0003774 | Stage 5 chronic kidney disease | |
| HP:0012577 | Thin glomerular basement membrane | |
| Occasional (29-5%) | ||
| HP:0011488 | Abnormal corneal endothelium morphology | |
| HP:0011501 | Anterior lenticonus | |
| HP:0200020 | Corneal erosion | |
| HP:0000969 | Edema | |
| HP:0000097 | Focal segmental glomerulosclerosis | |
| HP:0002907 | Microscopic hematuria | |
| HP:0000545 | Myopia | |
| HP:0000495 | Recurrent corneal erosions | |
| HP:0032583 | Renal glomerular foam cells | |
| HP:0025005 | Thickening of glomerular capillary wall | |
| HP:0004722 | Thickening of the glomerular basement membrane | |
| HP:0005576 | Tubulointerstitial fibrosis | |
| Very rare (<4-1%) | ||
| HP:0001131 | Corneal dystrophy | |
| HP:0012735 | Cough | |
| HP:0006756 | Diffuse leiomyomatosis | |
| HP:0002015 | Dysphagia | |
| HP:0002094 | Dyspnea | |
| HP:0410019 | Epigastric pain | |
| HP:0000608 | Macular degeneration | |
| HP:0007787 | Posterior subcapsular cataract | |
| HP:0002837 | Recurrent bronchitis | |
| HP:0010307 | Stridor | |
| HP:0002013 | Vomiting | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 20301386[PMID]_30212818[PMID]_30128941[PMID]_27281700[PMID]_37122389[PMID]_33854215[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/63
- This record as JSON: /data/d/63.json