raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:653722

Digenic Alport syndrome

Type
Clinical subtype
Group
Subtype of disorder
Inheritance
Autosomal dominant, Autosomal recessive
Status
active

Orphadata ships no English definition for this code.

1

Names in Orphadata languages

10 of 12 languages
LangNameSynonyms
enDigenic Alport syndrome
frSyndrome d'Alport digénique
deDigenisches Alport-Syndrom
esSíndrome de Alport digénico
itSindrome di Alport digenica
nlDigenetisch syndroom van Alport
ptSíndrome Alport digénico
plDigenowy zespół Alporta
csDigenický Alportův syndrom
ukДвогенний синдром Альпорта
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0958104Evalidated
UMLSC5925113Evalidated

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

3 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
COL4A3Disease-causing germline mutation(s) inAssessedHGNC:2204ENSG000001690311200702q36.3collagen type IV alpha 3 chain5675912[PMID]_34930753[PMID]_35547199[PMID]
COL4A4Disease-causing germline mutation(s) inAssessedHGNC:2206ENSG000000810521201312q36.3collagen type IV alpha 4 chain5675912[PMID]_34930753[PMID]_35547199[PMID]
COL4A5Disease-causing germline mutation(s) inAssessedHGNC:2207ENSG00000188153303630Xq22.3collagen type IV alpha 5 chain5675912[PMID]_34930753[PMID]_35547199[PMID]
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card