Autosomal dominant Alport syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr: 88918
OMIM Id: 104200
ICD-10: Q87.8
UMLs: C1567743
C2931253
MeSH: C536586
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Alport syndrome
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare otorhinolaryngologic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000093) Proteinuria 169 / 7739
2
 (HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
3
 (HPO:0004722) Thickening of the glomerular basement membrane 12 / 7739
4
 (HPO:0000822) Hypertension 224 / 7739
5
 (OMIM) Diffuse lamellation of the glomerular basement membrane 4 / 7739
6
 (OMIM) Deafness, sensorineural, especially affecting high frequencies 4 / 7739
7
 (OMIM) Thinning of the glomerular basement membrane 5 / 7739
8
 (OMIM) Hematuria, gross and microscopic 4 / 7739
9
 (MedDRA:10051920) Glomerulonephropathy 4 / 7739
10
 (OMIM) Splitting of the glomerular basement membrane 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Alport syndrome classically comprises nephritis, often progressing to renal failure, and sensorineural hearing loss (Alport, 1927). For a general phenotypic description of Alport syndrome, see the X-linked dominant form (301050). Approximately 85% of cases of Alport syndrome are ...
Clinical Description OMIM Jefferson et al. (1997) reported an Irish family with apparent autosomal dominant inheritance of Alport syndrome. The proband was a young man who presented with asymptomatic microhematuria and hypertension. His renal function deteriorated and he reached end-stage renal ...
Molecular genetics OMIM In affected members of a family with autosomal dominant Alport syndrome reported by Jefferson et al. (1997), van der Loop et al. (2000) identified a heterozygous mutation in the COL4A3 gene (120070.0009). The mutation resulted in a splice ...