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Diseases

Glycogen Storage Disease Type IV

glycogen storage disease type iv

Entity Type
Diseases
Relation Groups
1
Relation Preview
8

Basic Information

Grouped by core information, identifiers, and descriptions.

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Core Information

Disease Name
Glycogen Storage Disease Type IV
Standard Disease Name
glycogen storage disease type iv
MeSH Tree
No data
ICD-10
No data

Identifiers

DO ID
No data
MeSH ID
No data
OMIM ID
131100
UMLS ID
C0025267|C3149237
HPO ID
No data

Description and Extensions

Description
NCI2016_NCI-GLOSS_1602D:A rare, inherited disorder that affects the endocrine glands and can cause tumors in the parathyroid and pituitary glands and the pancreas. These tumors are usually benign (not cancer). They cause the glands to secrete high levels of hormones, which can lead to other medical problems, such as kidney stones, fertility problems, and severe ulcers. In some cases, tumors inside the pancreas can become malignant (cancer).|NCI2016_02D:Multiple endocrine neoplasia caused by inactivation of the tumor suppressor gene MEN-1. Patients may develop hyperparathyroidism and parathyroid gland adenomas, pituitary gland adenomas, pancreatic islet cell neoplasms, and carcinoid tumors.|MSH2017_2016_08_12:A form of multiple endocrine neoplasia that is characterized by the combined occurrence of tumors in the PARATHYROID GLANDS, the PITUITARY GLAND, and the PANCREATIC ISLETS. The resulting clinical signs include HYPERPARATHYROIDISM; HYPERCALCEMIA; HYPERPROLACTINEMIA; CUSHING DISEASE; GASTRINOMA; and ZOLLINGER-ELLISON SYNDROME. This disease is due to loss-of-function of the MEN1 gene, a tumor suppressor gene (GENES, TUMOR SUPPRESSOR) on CHROMOSOME 11 (Locus: 11q13).
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease8 Targets
02
G6PC
glucose-6-phosphatase catalytic subunit
glucose-6-phosphatase catalytic subunit
04
GBE1
1,4-alpha-glucan branching enzyme 1
1,4-alpha-glucan branching enzyme 1
05
KCNJ12
potassium inwardly rectifying channel subfamily J member 12
potassium inwardly rectifying channel subfamily J member 12
06
KCNJ3
potassium inwardly rectifying channel subfamily J member 3
potassium inwardly rectifying channel subfamily J member 3