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Autosomal recessive Alport syndrome
1 OMIM reference -
2 associated genes
25 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant Alport syndrome
Congenital stromal corneal dystrophy
Fibronectin glomerulopathy
Granular corneal dystrophy type I
Granular corneal dystrophy type II
Infantile systemic hyalinosis
Juvenile hyaline fibromatosis
Lattice corneal dystrophy type I
Metaphyseal anadysplasia
Microcystic corneal dystrophy
Reis-Bücklers corneal dystrophy
Thiel-Behnke corneal dystrophy
Chuvash erythrocytosis
Von Hippel-Lindau disease
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Retinitis pigmentosa
Usher syndrome type 2
X-linked Alport syndrome
X-linked diffuse leiomyomatosis - Alport syndrome
Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare renal disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
COL4A3 Q01955120070
COL4A4 P53420120131
No signs/symptoms info available.