MCID: PRG019
MIFTS: 22

Paragangliomas 2

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

Aliases & Classifications for Paragangliomas 2

MalaCards integrated aliases for Paragangliomas 2:

Name: Paragangliomas 2 57 53 75 29 13 6 73
Pgl2 57 53 75
Glomus Tumors, Familial, 2 57 53
Sdhaf2-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 53
Familial Non-Chromaffin Paragangliomas 2 75
Glomus Tumors Familial 2 75
Paragangliomas, Type 2 40

Characteristics:

OMIM:

57
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:

32
paragangliomas 2:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Paragangliomas 2

UniProtKB/Swiss-Prot : 75 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 aphonia An important gene associated with Paragangliomas 2 is SDHAF2 (Succinate Dehydrogenase Complex Assembly Factor 2). Related phenotypes are vocal cord paralysis and hoarse voice

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 9.6

Symptoms & Phenotypes for Paragangliomas 2

Symptoms via clinical synopsis from OMIM:

57
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:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 vocal cord paralysis 32 HP:0001605
2 hoarse voice 32 HP:0001609
3 loss of voice 32 HP:0001686
4 vagal paraganglioma 32 HP:0002886
5 glomus jugular tumor 32 HP:0003001
6 glomus tympanicum paraganglioma 32 HP:0006715
7 cranial nerve paralysis 32 HP:0006824
8 pulsatile tinnitus 32 HP:0008629
9 chemodectoma 32 HP:0030074

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 29 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:

75
# 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
2 SDHAF2 NM_017841.2(SDHAF2): c.232G> A (p.Gly78Arg) single nucleotide variant Pathogenic rs113560320 GRCh38 Chromosome 11, 61437820: 61437820

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....