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X-linked diffuse leiomyomatosis - Alport syndrome
2 OMIM references -
2 associated genes
23 connected diseases
No signs/symptoms info
Disease Type of connection
X-linked Alport syndrome
X-linked nonsyndromic sensorineural deafness type DFN
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
Congenital stromal corneal dystrophy
Metaphyseal anadysplasia
Fibronectin glomerulopathy
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
Infantile systemic hyalinosis
Juvenile hyaline fibromatosis
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Synonym(s):
- Xq22.3 microdeletion syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked dominant
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
COL4A5 P29400303630
COL4A6 Q14031303631
No signs/symptoms info available.