MCID: PRG019
MIFTS: 22

Paragangliomas 2

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Cancer diseases, Ear diseases

Aliases & Classifications for Paragangliomas 2

MalaCards integrated aliases for Paragangliomas 2:

Name: Paragangliomas 2 53 49 71 28 13 69
Pgl2 53 49 71
Glomus Tumors, Familial, 2 53 49
Sdhaf2-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 49
Familial Non-Chromaffin Paragangliomas 2 71
Glomus Tumors Familial 2 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
see also pgl1
usually asymptomatic
cells of origin are part of the diffuse neuroendocrine system (dnes)
adult onset (wide range of age)


HPO:

31
paragangliomas 2:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Paragangliomas 2

UniProtKB/Swiss-Prot : 71 Paragangliomas 2: A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. Paragangliomas can develop at various body sites, including the head, neck, thorax and abdomen. Most commonly, they are located in the head and neck region, specifically at the carotid bifurcation, the jugular foramen, the vagal nerve, and in the middle ear.

MalaCards based summary : Paragangliomas 2, also known as pgl2, is related to hereditary paraganglioma-pheochromocytoma syndromes and paraganglioma, and has symptoms including cranial nerve paralysis, hoarse voice and vocal cord paralysis. An important gene associated with Paragangliomas 2 is SDHAF2 (Succinate Dehydrogenase Complex Assembly Factor 2).

Description from OMIM: 601650

Related Diseases for Paragangliomas 2

Diseases in the Paraganglioma family:

Paragangliomas 4 Paragangliomas 1
Paragangliomas 2 Paragangliomas 3
Paragangliomas 5 Nonsyndromic Paraganglioma

Diseases related to Paragangliomas 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hereditary paraganglioma-pheochromocytoma syndromes 11.1
2 paraganglioma 9.7

Symptoms & Phenotypes for Paragangliomas 2

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
pulsatile tinnitus (tympanic paraganglioma)

Neoplasia:
paragangliomas
chemodectomas
glomus jugular tumors
vagal nerve tumors (glomus vagale)
tympanic nerve tumors (glomus tympanicum)
more
Voice:
hoarse voice (caused by tumor impingement)
loss of voice

Neurologic Central Nervous System:
cranial nerve palsies can arise with head and neck paragangliomas

Respiratory Larynx:
vocal cord paralysis (caused by tumor impingement)


Clinical features from OMIM:

601650

Human phenotypes related to Paragangliomas 2:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 cranial nerve paralysis 31 HP:0006824
2 hoarse voice 31 HP:0001609
3 vocal cord paralysis 31 HP:0001605
4 pulsatile tinnitus 31 HP:0008629
5 loss of voice 31 HP:0001686
6 glomus jugular tumor 31 HP:0003001
7 chemodectoma 31 HP:0030074
8 vagal paraganglioma 31 HP:0002886
9 glomus tympanicum paraganglioma 31 HP:0006715

UMLS symptoms related to Paragangliomas 2:


aphonia

Drugs & Therapeutics for Paragangliomas 2

Search Clinical Trials , NIH Clinical Center for Paragangliomas 2

Genetic Tests for Paragangliomas 2

Genetic tests related to Paragangliomas 2:

# Genetic test Affiliating Genes
1 Paragangliomas 2 28 SDHAF2

Anatomical Context for Paragangliomas 2

Publications for Paragangliomas 2

Articles related to Paragangliomas 2:

# Title Authors Year
1
Nonchromaffin paraganglioma. 2. Carotid body tumor. ( 5035672 )
1972

Variations for Paragangliomas 2

UniProtKB/Swiss-Prot genetic disease variations for Paragangliomas 2:

71
# Symbol AA change Variation ID SNP ID
1 SDHAF2 p.Gly78Arg VAR_058705 rs113560320

ClinVar genetic disease variations for Paragangliomas 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SDHAF2 NM_017841.2(SDHAF2): c.232G> A (p.Gly78Arg) single nucleotide variant Pathogenic rs113560320 GRCh37 Chromosome 11, 61205292: 61205292

Expression for Paragangliomas 2

Search GEO for disease gene expression data for Paragangliomas 2.

Pathways for Paragangliomas 2

GO Terms for Paragangliomas 2

Sources for Paragangliomas 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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