Alport syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Alport deafness-nephropathy
Number of Symptoms 44
OrphanetNr: 63
OMIM Id: 104200
203780
301050
ICD-10: Q87.8
UMLs: C1567741
MeSH: D009394
MedDRA: 10001843
Snomed: 399340005

Prevalence, inheritance and age of onset:

Prevalence: 2 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
X-linked dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Basement membrane disease
 -Rare genetic disease
 -Rare renal disease
Lens shape anomaly
 -Rare eye disease
 -Rare genetic disease
Renal disease with cataract
 -Rare eye disease
 -Rare genetic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
2
 (HPO:0000790) Hematuria 106 / 7739
3
 (HPO:0000121) Nephrocalcinosis 57 / 7739
4
 (HPO:0100820) Glomerulopathy Very frequent [Orphanet] 46 / 7739
5
 (HPO:0100586) Aseptic leukocyturia Frequent [Orphanet] 2 / 7739
6
 (HPO:0000099) Glomerulonephritis 13 / 7739
7
 (HPO:0010784) Uterine neoplasm Occasional [Orphanet] 13 / 7739
8
 (HPO:0000093) Proteinuria Frequent [Orphanet] 169 / 7739
9
 (HPO:0004722) Thickening of the glomerular basement membrane 12 / 7739
10
 (HPO:0000100) Nephrotic syndrome Frequent [Orphanet] 83 / 7739
11
 (HPO:0000083) Renal insufficiency Frequent [Orphanet] 232 / 7739
12
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
13
 (HPO:0001134) Anterior polar cataract 8 / 7739
14
 (HPO:0000517) Abnormality of the lens Frequent [Orphanet] 12 / 7739
15
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
16
 (HPO:0001142) Lenticonus 4 / 7739
17
 (HPO:0008059) Aplasia/Hypoplasia of the macula Occasional [Orphanet] 21 / 7739
18
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
19
 (HPO:0001131) Corneal dystrophy Occasional [Orphanet] 56 / 7739
20
 (HPO:0000488) Retinopathy Very frequent [Orphanet] 75 / 7739
21
 (HPO:0000613) Photophobia Occasional [Orphanet] 158 / 7739
22
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
23
 (HPO:0011390) Morphological abnormality of the inner ear Very frequent [Orphanet] 21 / 7739
24
 (HPO:0000360) Tinnitus Frequent [Orphanet] 29 / 7739
25
 (HPO:0002315) Headache Frequent [Orphanet] 175 / 7739
26
 (HPO:0002015) Dysphagia Occasional [Orphanet] 301 / 7739
27
 (HPO:0100273) Neoplasm of the colon Occasional [Orphanet] 18 / 7739
28
 (HPO:0003363) Abdominal situs inversus Occasional [Orphanet] 19 / 7739
29
 (HPO:0002017) Nausea and vomiting Occasional [Orphanet] 134 / 7739
30
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
31
 (HPO:0000958) Dry skin Frequent [Orphanet] 152 / 7739
32
 (HPO:0000980) Pallor Frequent [Orphanet] 52 / 7739
33
 (HPO:0001031) Subcutaneous lipoma Occasional [Orphanet] 112 / 7739
34
 (HPO:0000822) Hypertension Frequent [Orphanet] 224 / 7739
35
 (HPO:0001873) Thrombocytopenia Occasional [Orphanet] 224 / 7739
36
 (HPO:0002157) Azotemia 3 / 7739
37
 (HPO:0002148) Hypophosphatemia 43 / 7739
38
 (HPO:0010741) Edema of the lower limbs Frequent [Orphanet] 34 / 7739
39
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
40
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
41
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
42
 (HPO:0030448) Soft tissue sarcoma Occasional [Orphanet] 18 / 7739
43
 (HPO:0030034) Diffuse glomerular basement membrane lamellation 4 / 7739
44
 (HPO:0003676) Progressive disorder 148 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: