GLYCOGEN STORAGE DISEASE Ic

General Information (adopted from Orphanet):

Synonyms, Signs: GSD1D, INCLUDED
GSD1C GLYCOGEN STORAGE DISEASE Id, INCLUDED
Number of Symptoms 31
OrphanetNr:
OMIM Id: 232240
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000097) Focal segmental glomerulosclerosis 37 / 7739
2
 (HPO:0012213) Decreased glomerular filtration rate 21 / 7739
3
 (HPO:0000093) Proteinuria 169 / 7739
4
 (HPO:0000790) Hematuria 106 / 7739
5
 (HPO:0000083) Renal insufficiency 232 / 7739
6
 (HPO:0001114) Xanthelasma 13 / 7739
7
 (HPO:0000823) Delayed puberty 65 / 7739
8
 (HPO:0001997) Gout 18 / 7739
9
 (HPO:0006280) Chronic pancreatitis 3 / 7739
10
 (HPO:0002240) Hepatomegaly 467 / 7739
11
 (HPO:0002884) Hepatoblastoma 11 / 7739
12
 (HPO:0001402) Hepatocellular carcinoma 25 / 7739
13
 (HPO:0001039) Atheroeruptive xanthoma 9 / 7739
14
 (HPO:0012522) Spider hemangioma 1 / 7739
15
 (HPO:0000991) Xanthomatosis 16 / 7739
16
 (HPO:0002092) Pulmonary hypertension 109 / 7739
17
 (HPO:0000822) Hypertension 224 / 7739
18
 (HPO:0003128) Lactic acidosis 116 / 7739
19
 (HPO:0003077) Hyperlipidemia 37 / 7739
20
 (HPO:0001942) Metabolic acidosis 81 / 7739
21
 (HPO:0001946) Ketosis 17 / 7739
22
 (HPO:0001943) Hypoglycemia 131 / 7739
23
 (HPO:0002149) Hyperuricemia 37 / 7739
24
 (OMIM) Spider angioma 1 / 7739
25
 (MedDRA:10018641) Gouty tophus 1 / 7739
26
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
27
 (OMIM) T2 transport protein (Phosphate-pyrophosphate translocase) defect 1 / 7739
28
 (OMIM) No leukocyte dysfunction 1 / 7739
29
 (OMIM) Lipidemia 1 / 7739
30
 (OMIM) Growth lag 1 / 7739
31
 (OMIM) [DEL]Liver adenomas 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: