MCID: PHC017
MIFTS: 18

Pheochromocytoma--Islet Cell Tumor Syndrome

Categories: Endocrine diseases, Rare diseases
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Aliases & Classifications for Pheochromocytoma--Islet Cell Tumor Syndrome

MalaCards integrated aliases for Pheochromocytoma--Islet Cell Tumor Syndrome:

Name: Pheochromocytoma--Islet Cell Tumor Syndrome 57
Pheochromocytoma and Islet Cell Tumor of the Pancreas 19
Pheochromocytoma-Islet Cell Tumor Syndrome 19
Pheochromocytoma Islet Cell Tumor Syndrome 71

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



Summaries for Pheochromocytoma--Islet Cell Tumor Syndrome

MalaCards based summary: Pheochromocytoma--Islet Cell Tumor Syndrome, also known as pheochromocytoma and islet cell tumor of the pancreas, is related to pheochromocytoma and pancreatic endocrine carcinoma. Affiliated tissues include pancreas and heart, and related phenotypes are hyperhidrosis and proteinuria

More information from OMIM: 171420

Related Diseases for Pheochromocytoma--Islet Cell Tumor Syndrome

Diseases related to Pheochromocytoma--Islet Cell Tumor Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pheochromocytoma 10.3
2 pancreatic endocrine carcinoma 10.3
3 islet cell tumor 10.3

Symptoms & Phenotypes for Pheochromocytoma--Islet Cell Tumor Syndrome

Human phenotypes related to Pheochromocytoma--Islet Cell Tumor Syndrome:

30 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 30 HP:0000975
2 proteinuria 30 HP:0000093
3 congestive heart failure 30 HP:0001635
4 hypercalcemia 30 HP:0003072
5 pheochromocytoma 30 HP:0002666
6 cerebral hemorrhage 30 HP:0001342
7 tachycardia 30 HP:0001649
8 cafe-au-lait spot 30 HP:0000957
9 hypertensive retinopathy 30 HP:0001095
10 elevated urinary norepinephrine 30 HP:0003345
11 positive regitine blocking test 30 HP:0003574
12 axillary freckling 30 HP:0000997
13 episodic hypertension 30 HP:0000875

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Lab:
proteinuria
hypercalcemia
elevated urinary norepinephrine
positive regitine test

Oncology:
pheochromocytoma
islet cell tumor

Eyes:
hypertensive retinopathy

Endocrine:
episodic hypertension

Cardiac:
congestive heart failure
tachycardia

Neuro:
cerebral hemorrhage

Skin:
axillary freckling
cafe-au-lait spots
sweating

Misc:
familial pheochromocytoma usually bilateral

Clinical features from OMIM®:

171420 (Updated 24-Oct-2022)

Drugs & Therapeutics for Pheochromocytoma--Islet Cell Tumor Syndrome

Search Clinical Trials, NIH Clinical Center for Pheochromocytoma--Islet Cell Tumor Syndrome

Genetic Tests for Pheochromocytoma--Islet Cell Tumor Syndrome

Anatomical Context for Pheochromocytoma--Islet Cell Tumor Syndrome

Organs/tissues related to Pheochromocytoma--Islet Cell Tumor Syndrome:

MalaCards : Pancreas, Heart

Publications for Pheochromocytoma--Islet Cell Tumor Syndrome

Articles related to Pheochromocytoma--Islet Cell Tumor Syndrome:

# Title Authors PMID Year
1
Familial pheochromocytoma and islet cell tumor of the pancreas. 62 57
6102842 1980
2
Bilateral pheochromocytoma and islet cell adenoma of the pancreas. 57
6123304 1982
3
Familial islet cell tumors in Von Hippel-Lindau's disease. 57
227568 1979

Variations for Pheochromocytoma--Islet Cell Tumor Syndrome

Expression for Pheochromocytoma--Islet Cell Tumor Syndrome

Search GEO for disease gene expression data for Pheochromocytoma--Islet Cell Tumor Syndrome.

Pathways for Pheochromocytoma--Islet Cell Tumor Syndrome

GO Terms for Pheochromocytoma--Islet Cell Tumor Syndrome

Sources for Pheochromocytoma--Islet Cell Tumor Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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