MCID: PRG020
MIFTS: 23

Paragangliomas 3

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

Aliases & Classifications for Paragangliomas 3

MalaCards integrated aliases for Paragangliomas 3:

Name: Paragangliomas 3 53 49 71 28 13 69
Pgl3 53 49 71
Glomus Tumors, Familial, 3 53 49
Sdhc-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 49
Familial Non-Chromaffin Paragangliomas 3 71
Glomus Tumors Familial 3 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
signs and symptoms depend on tumor location and activity
see also pgl1
cells of origin are part of the diffuse neuroendocrine system (dnes)
adult onset, wide range of age


HPO:

31
paragangliomas 3:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Paragangliomas 3

UniProtKB/Swiss-Prot : 71 Paragangliomas 3: 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 3, also known as pgl3, is related to hereditary paraganglioma-pheochromocytoma syndromes and paraganglioma, and has symptoms including recurrent paroxysmal headache, hyperhidrosis and cranial nerve paralysis. An important gene associated with Paragangliomas 3 is SDHC (Succinate Dehydrogenase Complex Subunit C).

Description from OMIM: 605373

Related Diseases for Paragangliomas 3

Diseases in the Paraganglioma family:

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

Diseases related to Paragangliomas 3 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 3

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Heart:
tachycardia (with pheochromocytoma)
palpitations (with pheochromocytoma)

Cardiovascular Vascular:
hypertension (with pheochromocytoma)

Neurologic Central Nervous System:
headache (with pheochromocytoma)
cranial nerve palsies can arise with head and neck paragangliomas

Neoplasia:
paragangliomas
chemodectomas
carotid body tumors
glomus jugular tumors
multiple tumors
more
Voice:
hoarse voice (caused by tumor impingement)
loss of voice

Head And Neck Ears:
pulsatile tinnitus (tympanic paraganglioma)

Skin Nails Hair Skin:
diaphoresis (with pheochromocytoma)

Neurologic Behavioral Psychiatric Manifestations:
anxiety (with pheochromocytoma)

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

Laboratory Abnormalities:
elevated catecholamines (in patients with pheochromocytoma)


Clinical features from OMIM:

605373

Human phenotypes related to Paragangliomas 3:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 recurrent paroxysmal headache 31 HP:0002331
2 hyperhidrosis 31 HP:0000975
3 cranial nerve paralysis 31 HP:0006824
4 hoarse voice 31 HP:0001609
5 vocal cord paralysis 31 HP:0001605
6 tachycardia 31 HP:0001649
7 palpitations 31 HP:0001962
8 extraadrenal pheochromocytoma 31 HP:0006737
9 adrenal pheochromocytoma 31 HP:0006748
10 episodic paroxysmal anxiety 31 HP:0000740
11 hypertension associated with pheochromocytoma 31 HP:0002640
12 pulsatile tinnitus 31 HP:0008629
13 loss of voice 31 HP:0001686
14 glomus jugular tumor 31 HP:0003001
15 chemodectoma 31 HP:0030074
16 elevated circulating catecholamine level 31 HP:0003334

UMLS symptoms related to Paragangliomas 3:


aphonia

Drugs & Therapeutics for Paragangliomas 3

Search Clinical Trials , NIH Clinical Center for Paragangliomas 3

Genetic Tests for Paragangliomas 3

Genetic tests related to Paragangliomas 3:

# Genetic test Affiliating Genes
1 Paragangliomas 3 28 SDHC

Anatomical Context for Paragangliomas 3

Publications for Paragangliomas 3

Articles related to Paragangliomas 3:

# Title Authors Year
1
Nonchromaffin paraganglioma. 3. Glomus jugulare tumors. ( 4338957 )
1972

Variations for Paragangliomas 3

ClinVar genetic disease variations for Paragangliomas 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SDHC NM_003001.3(SDHC): c.43C> T (p.Arg15Ter) single nucleotide variant Pathogenic rs201286421 GRCh37 Chromosome 1, 161293426: 161293426
2 SDHC NM_003001.3(SDHC): c.397C> T (p.Arg133Ter) single nucleotide variant Pathogenic rs764575966 GRCh37 Chromosome 1, 161326622: 161326622
3 SDHC NM_003001.3(SDHC): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs587776652 GRCh37 Chromosome 1, 161284198: 161284198
4 SDHC NM_003001.3(SDHC): c.405+1G> T single nucleotide variant Pathogenic rs587776653 GRCh37 Chromosome 1, 161326631: 161326631
5 SDHC SDHC, 8,372-BP DEL deletion Pathogenic
6 SDHC NM_003001.3(SDHC): c.406-?_*2318+?del deletion Pathogenic
7 SDHC NC_000001.11: g.(?_161340594)_(161340655_?)dup duplication Likely pathogenic GRCh37 Chromosome 1, 161310384: 161310445
8 SDHC NC_000001.11: g.(?_161356677)_(161356840_?)del deletion Pathogenic GRCh37 Chromosome 1, 161326467: 161326630
9 SDHC NM_003001.3(SDHC): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs755235380 GRCh38 Chromosome 1, 161314406: 161314406

Expression for Paragangliomas 3

Search GEO for disease gene expression data for Paragangliomas 3.

Pathways for Paragangliomas 3

GO Terms for Paragangliomas 3

Sources for Paragangliomas 3

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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