MCID: PHC017
MIFTS: 18

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 58
Pheochromocytoma and Islet Cell Tumor of the Pancreas 54
Pheochromocytoma-Islet Cell Tumor Syndrome 54
Pheochromocytoma Islet Cell Tumor Syndrome 74

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
? same as von hippel-lindau disease


HPO:

33
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 islet cell tumor. Affiliated tissues include pancreas, heart and testes, and related phenotypes are hyperhidrosis and proteinuria

Description 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 10.1
2 islet cell tumor 10.1

Symptoms & Phenotypes for Pheochromocytoma--Islet Cell Tumor Syndrome

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

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 33 HP:0000975
2 proteinuria 33 HP:0000093
3 congestive heart failure 33 HP:0001635
4 pheochromocytoma 33 HP:0002666
5 hypercalcemia 33 HP:0003072
6 cerebral hemorrhage 33 HP:0001342
7 tachycardia 33 HP:0001649
8 cafe-au-lait spot 33 HP:0000957
9 hypertensive retinopathy 33 HP:0001095
10 elevated urinary norepinephrine 33 HP:0003345
11 positive regitine blocking test 33 HP:0003574
12 axillary freckling 33 HP:0000997
13 episodic hypertension 33 HP:0000875

Symptoms via clinical synopsis from OMIM:

58
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:
cafe-au-lait spots
axillary freckling
sweating

Misc:
familial pheochromocytoma usually bilateral

Clinical features from OMIM:

171420

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:

42
Pancreas, Heart, Testes

Publications for Pheochromocytoma--Islet Cell Tumor Syndrome

Articles related to Pheochromocytoma--Islet Cell Tumor Syndrome:

# Title Authors Year
1
Familial pheochromocytoma and islet cell tumor of the pancreas. ( 6102842 )
1980

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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