X-linked Alport syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: NEPHROPATHY AND DEAFNESS, X-LINKED
ATS
Number of Symptoms 29
OrphanetNr: 88917
OMIM Id: 301050
ICD-10: Q87.8
UMLs: C1567742
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked 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:0000123) Nephritis 18 / 7739
2
(HPO:0004722) Thickening of the glomerular basement membrane 12 / 7739
3
(HPO:0000093) Proteinuria 169 / 7739
4
(HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
5
(HPO:0000100) Nephrotic syndrome 83 / 7739
6
(HPO:0002907) Microscopic hematuria 27 / 7739
7
(HPO:0200020) Corneal erosion 12 / 7739
8
(HPO:0000518) Cataract 454 / 7739
9
(HPO:0011501) Anterior lenticonus 3 / 7739
10
(HPO:0000545) Myopia 286 / 7739
11
(HPO:0000519) Congenital cataract 73 / 7739
12
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
13
(HPO:0000829) Hypoparathyroidism 22 / 7739
14
(HPO:0008064) Ichthyosis 108 / 7739
15
(HPO:0000822) Hypertension 224 / 7739
16
(HPO:0001873) Thrombocytopenia 224 / 7739
17
(HPO:0006756) Diffuse leiomyomatosis 2 / 7739
18
(OMIM) Thinning of the glomerular basement membrane 5 / 7739
19
(OMIM) Corneal endothelial vesicles 2 / 7739
20
(HPO:0001425) Heterogeneous 132 / 7739
21
(OMIM) Deafness, sensorineural, especially affecting high frequencies 4 / 7739
22
(OMIM) Pigmentary changes ('flecks') in the perimacular region 2 / 7739
23
(OMIM) Hematuria, gross and microscopic 4 / 7739
24
(OMIM) Splitting of the glomerular basement membrane 4 / 7739
25
(HPO:0001423) X-linked dominant inheritance 69 / 7739
26
(OMIM) Diffuse lamellation of the glomerular basement membrane 4 / 7739
27
(HPO:0003676) Progressive disorder 148 / 7739
28
(HPO:0030034) Diffuse glomerular basement membrane lamellation 4 / 7739
29
(MedDRA:10051920) Glomerulonephropathy 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and variable ocular anomalies (review by Kashtan, 1999).

Alport syndrome is a genetically heterogeneous ...

Clinical Description OMIM Alport (1927) reported a family in which affected individuals showed progressive renal disease with hematuria and deafness. Affected males died early of uremia, while females lived to old age. The report of Alport (1927) was the fourth concerning ...
Molecular genetics OMIM Suspicion that the mutation responsible for Alport syndrome might reside in the gene for the alpha-5 chain of collagen IV was raised by the demonstration that the COL4A5 gene maps to Xq22-q23, the same region known to contain ...