MCID: PHC017
MIFTS: 17

Pheochromocytoma--Islet Cell Tumor Syndrome

Categories: Endocrine diseases, Rare diseases

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 20
Pheochromocytoma-Islet Cell Tumor Syndrome 20
Pheochromocytoma Islet Cell Tumor Syndrome 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant
? same as von hippel-lindau disease


HPO:

31
pheochromocytoma--islet cell tumor syndrome:
Inheritance autosomal dominant inheritance


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 adrenal gland pheochromocytoma. 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 adrenal gland pheochromocytoma 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:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 31 HP:0000975
2 proteinuria 31 HP:0000093
3 congestive heart failure 31 HP:0001635
4 hypercalcemia 31 HP:0003072
5 pheochromocytoma 31 HP:0002666
6 cerebral hemorrhage 31 HP:0001342
7 tachycardia 31 HP:0001649
8 cafe-au-lait spot 31 HP:0000957
9 hypertensive retinopathy 31 HP:0001095
10 elevated urinary norepinephrine 31 HP:0003345
11 positive regitine blocking test 31 HP:0003574
12 axillary freckling 31 HP:0000997
13 episodic hypertension 31 HP:0000875

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

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

MalaCards organs/tissues related to Pheochromocytoma--Islet Cell Tumor Syndrome:

40
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. 61 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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