FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THEYOUNG

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr:
OMIM Id: 616026
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000121) Nephrocalcinosis 57 / 7739
2
 (HPO:0003355) Aminoaciduria 65 / 7739
3
 (HPO:0003109) Hyperphosphaturia 18 / 7739
4
 (HPO:0003076) Glycosuria 32 / 7739
5
 (HPO:0000819) Diabetes mellitus rare [HPO:skoehler] 131 / 7739
6
 (HPO:0002748) Rickets 41 / 7739
7
 (HPO:0002240) Hepatomegaly rare [HPO:skoehler] 467 / 7739
8
 (HPO:0004322) Short stature 1232 / 7739
9
 (HPO:0001520) Large for gestational age 34 / 7739
10
 (HPO:0001943) Hypoglycemia 131 / 7739
11
 (HPO:0003537) Hypouricemia 13 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: