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X-linked Alport syndrome
1 OMIM reference -
1 associated gene
23 connected diseases
No signs/symptoms info
Disease Type of connection
X-linked diffuse leiomyomatosis - Alport syndrome
Chuvash erythrocytosis
Multiple endocrine neoplasia type 1
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Von Hippel-Lindau disease
Infantile systemic hyalinosis
Juvenile hyaline fibromatosis
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Congenital stromal corneal dystrophy
Early-onset autosomal dominant Alzheimer disease
Fibronectin glomerulopathy
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
Metaphyseal anadysplasia
X-linked nonsyndromic sensorineural deafness type DFN
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: 1-9 / 100 000
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
COL4A5 P29400303630
No signs/symptoms info available.