PGL4
MCID: PRG021
MIFTS: 27

Paragangliomas 4 (PGL4)

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

Aliases & Classifications for Paragangliomas 4

MalaCards integrated aliases for Paragangliomas 4:

Name: Paragangliomas 4 58 54 76 30 13 6 74
Pgl4 58 54 76
Carotid Body Tumors and Multiple Extraadrenal Pheochromocytomas 58 76
Paragangliomas, Hereditary Extraadrenal 58 54
Pheochromocytoma, Familial Extraadrenal 58 54
Paraganglioma, Familial Malignant 58 54
Sdhb-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 54
Pheochromocytoma, Extraadrenal, and Cervical Paraganglioma 58
Pheochromocytoma, Extraadrenal and Cervical Paraganglioma 54
Pheochromocytoma Extraadrenal and Cervical Paraganglioma 76
Paragangliomas Hereditary Extraadrenal 76
Pheochromocytoma Familial Extraadrenal 76
Familial Chromaffin Paraganglioma 4 76
Paraganglioma Familial Malignant 76
Paragangliomas, Type 4 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
adult onset (mean 30 years, range 10-65 years)
incomplete penetrance (range 13% to 77% by 50 years of age)
signs and symptoms depend on tumor location and activity
patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both
see also pgl1


HPO:

33
paragangliomas 4:
Onset and clinical course adult onset incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Paragangliomas 4

UniProtKB/Swiss-Prot : 76 Paragangliomas 4: 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 4, also known as pgl4, is related to hereditary paraganglioma-pheochromocytoma syndromes and neuroblastoma. An important gene associated with Paragangliomas 4 is SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B). Related phenotypes are neuroblastoma and gastrointestinal stroma tumor

Description from OMIM: 115310

Related Diseases for Paragangliomas 4

Diseases in the Paraganglioma family:

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

Diseases related to Paragangliomas 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hereditary paraganglioma-pheochromocytoma syndromes 11.3
2 neuroblastoma 11.2
3 pheochromocytoma 10.4
4 adrenal gland pheochromocytoma 10.4
5 paraganglioma 10.1
6 multiple system atrophy, parkinsonian type 10.1

Graphical network of the top 20 diseases related to Paragangliomas 4:



Diseases related to Paragangliomas 4

Symptoms & Phenotypes for Paragangliomas 4

Human phenotypes related to Paragangliomas 4:

33 (show all 17)
# Description HPO Frequency HPO Source Accession
1 neuroblastoma 33 occasional (7.5%) HP:0003006
2 gastrointestinal stroma tumor 33 occasional (7.5%) HP:0100723
3 paraganglioma of head and neck 33 occasional (7.5%) HP:0002864
4 hyperhidrosis 33 HP:0000975
5 cranial nerve paralysis 33 HP:0006824
6 renal cell carcinoma 33 HP:0005584
7 tachycardia 33 HP:0001649
8 elevated urinary catecholamines 33 HP:0011976
9 recurrent paroxysmal headache 33 HP:0002331
10 palpitations 33 HP:0001962
11 extraadrenal pheochromocytoma 33 HP:0006737
12 adrenal pheochromocytoma 33 HP:0006748
13 episodic paroxysmal anxiety 33 HP:0000740
14 hypertension associated with pheochromocytoma 33 HP:0002640
15 pulsatile tinnitus 33 HP:0008629
16 glomus jugular tumor 33 HP:0003001
17 chemodectoma 33 HP:0030074

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
pulsatile tinnitus (tympanic paraganglioma)

Cardiovascular Vascular:
hypertension (with pheochromocytoma)

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

Neoplasia:
paragangliomas
multiple tumors in 28% of patients
paragangliomas, head and neck (31%)
chemodectomas
carotid body tumors
more
Cardiovascular Heart:
palpitations (with pheochromocytoma)
tachycardia (with pheochromocytoma)

Skin Nails Hair Skin:
diaphoresis (with pheochromocytoma)

Neurologic Behavioral Psychiatric Manifestations:
anxiety (with pheochromocytoma)

Laboratory Abnormalities:
increased urinary catecholamines (with pheochromocytoma)

Clinical features from OMIM:

115310

Drugs & Therapeutics for Paragangliomas 4

Search Clinical Trials , NIH Clinical Center for Paragangliomas 4

Genetic Tests for Paragangliomas 4

Genetic tests related to Paragangliomas 4:

# Genetic test Affiliating Genes
1 Paragangliomas 4 30 SDHB

Anatomical Context for Paragangliomas 4

Publications for Paragangliomas 4

Articles related to Paragangliomas 4:

# Title Authors Year
1
Treatment responses to antiangiogenetic therapy and chemotherapy in nonsecreting paraganglioma (PGL4) of urinary bladder with SDHB mutation: A case report. ( 30045248 )
2018
2
Pheochromocytoma in a Twelve-Year-Old Girl with SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome. ( 25215250 )
2014
3
Evaluation of anti-Wnt/β-catenin signaling agents by pGL4-TOP transfected stable cells with a luciferase reporter system. ( 20835687 )
2010

Variations for Paragangliomas 4

UniProtKB/Swiss-Prot genetic disease variations for Paragangliomas 4:

76
# Symbol AA change Variation ID SNP ID
1 SDHB p.Pro197Arg VAR_017868 rs74315367
2 SDHB p.Arg242His VAR_017869 rs74315368
3 SDHB p.Pro131Arg VAR_018518
4 SDHB p.His132Pro VAR_037621 rs74315372
5 SDHB p.Arg46Gln VAR_054377 rs772551056

ClinVar genetic disease variations for Paragangliomas 4:

6 (show top 50) (show all 557)
# Gene Variation Type Significance SNP ID Assembly Location
1 SDHB NM_003000.2(SDHB): c.300T> C (p.Ser100=) single nucleotide variant Benign/Likely benign rs11541235 GRCh37 Chromosome 1, 17355218: 17355218
2 SDHB NM_003000.2(SDHB): c.300T> C (p.Ser100=) single nucleotide variant Benign/Likely benign rs11541235 GRCh38 Chromosome 1, 17028723: 17028723
3 SDHB NM_003000.2(SDHB): c.260T> C (p.Leu87Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs727504457 GRCh37 Chromosome 1, 17359581: 17359581
4 SDHB NM_003000.2(SDHB): c.260T> C (p.Leu87Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs727504457 GRCh38 Chromosome 1, 17033086: 17033086
5 SDHB NM_003000.2(SDHB): c.269G> A (p.Arg90Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs570278423 GRCh37 Chromosome 1, 17359572: 17359572
6 SDHB NM_003000.2(SDHB): c.269G> A (p.Arg90Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs570278423 GRCh38 Chromosome 1, 17033077: 17033077
7 SDHB NM_003000.2(SDHB): c.418G> T (p.Val140Phe) single nucleotide variant Pathogenic/Likely pathogenic rs267607032 GRCh37 Chromosome 1, 17355100: 17355100
8 SDHB NM_003000.2(SDHB): c.418G> T (p.Val140Phe) single nucleotide variant Pathogenic/Likely pathogenic rs267607032 GRCh38 Chromosome 1, 17028605: 17028605
9 SDHB NC_000001.11: g.17048754_17064432del15679 deletion Pathogenic GRCh37 Chromosome 1, 17375249: 17390927
10 SDHB NC_000001.11: g.17048754_17064432del15679 deletion Pathogenic GRCh38 Chromosome 1, 17048754: 17064432
11 SDHB NC_000001.11: g.17050061_17070437del20377 deletion Pathogenic GRCh37 Chromosome 1, 17376556: 17396932
12 SDHB NC_000001.11: g.17050061_17070437del20377 deletion Pathogenic GRCh38 Chromosome 1, 17050061: 17070437
13 SDHB NM_003000.2(SDHB): c.423+1G> A single nucleotide variant Pathogenic rs398122805 GRCh37 Chromosome 1, 17355094: 17355094
14 SDHB NM_003000.2(SDHB): c.423+1G> A single nucleotide variant Pathogenic rs398122805 GRCh38 Chromosome 1, 17028599: 17028599
15 SDHB NM_003000.2(SDHB): c.32G> A (p.Arg11His) single nucleotide variant Conflicting interpretations of pathogenicity rs111430410 GRCh37 Chromosome 1, 17380483: 17380483
16 SDHB NM_003000.2(SDHB): c.32G> A (p.Arg11His) single nucleotide variant Conflicting interpretations of pathogenicity rs111430410 GRCh38 Chromosome 1, 17053988: 17053988
17 SDHB NM_003000.2(SDHB): c.423+20T> A single nucleotide variant Conflicting interpretations of pathogenicity rs190139590 GRCh37 Chromosome 1, 17355075: 17355075
18 SDHB NM_003000.2(SDHB): c.423+20T> A single nucleotide variant Conflicting interpretations of pathogenicity rs190139590 GRCh38 Chromosome 1, 17028580: 17028580
19 SDHB NM_003000.2(SDHB): c.403G> A (p.Val135Met) single nucleotide variant Uncertain significance rs201585157 GRCh37 Chromosome 1, 17355115: 17355115
20 SDHB NM_003000.2(SDHB): c.403G> A (p.Val135Met) single nucleotide variant Uncertain significance rs201585157 GRCh38 Chromosome 1, 17028620: 17028620
21 SDHB NM_003000.2(SDHB): c.638T> C (p.Met213Thr) single nucleotide variant Uncertain significance rs202014362 GRCh37 Chromosome 1, 17350472: 17350472
22 SDHB NM_003000.2(SDHB): c.638T> C (p.Met213Thr) single nucleotide variant Uncertain significance rs202014362 GRCh38 Chromosome 1, 17023977: 17023977
23 SDHB NM_003000.2(SDHB): c.286+2T> A single nucleotide variant Pathogenic rs587781270 GRCh37 Chromosome 1, 17359553: 17359553
24 SDHB NM_003000.2(SDHB): c.286+2T> A single nucleotide variant Pathogenic rs587781270 GRCh38 Chromosome 1, 17033058: 17033058
25 SDHB NM_003000.2(SDHB): c.286G> A (p.Gly96Ser) single nucleotide variant Likely pathogenic rs587782243 GRCh37 Chromosome 1, 17359555: 17359555
26 SDHB NM_003000.2(SDHB): c.286G> A (p.Gly96Ser) single nucleotide variant Likely pathogenic rs587782243 GRCh38 Chromosome 1, 17033060: 17033060
27 SDHB NM_003000.2(SDHB): c.689G> A (p.Arg230His) single nucleotide variant Pathogenic rs587782604 GRCh37 Chromosome 1, 17349179: 17349179
28 SDHB NM_003000.2(SDHB): c.689G> A (p.Arg230His) single nucleotide variant Pathogenic rs587782604 GRCh38 Chromosome 1, 17022684: 17022684
29 SDHB NM_003000.2(SDHB): c.607_616delGGAGACAAAT (p.Gly203Ilefs) deletion Pathogenic rs587782617 GRCh37 Chromosome 1, 17350494: 17350503
30 SDHB NM_003000.2(SDHB): c.607_616delGGAGACAAAT (p.Gly203Ilefs) deletion Pathogenic rs587782617 GRCh38 Chromosome 1, 17023999: 17024008
31 SDHB NM_003000.2(SDHB): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs74315370 GRCh37 Chromosome 1, 17371320: 17371320
32 SDHB NM_003000.2(SDHB): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs74315370 GRCh38 Chromosome 1, 17044825: 17044825
33 SDHB NM_003000.2(SDHB): c.72+1G> T single nucleotide variant Pathogenic rs587782703 GRCh37 Chromosome 1, 17380442: 17380442
34 SDHB NM_003000.2(SDHB): c.72+1G> T single nucleotide variant Pathogenic rs587782703 GRCh38 Chromosome 1, 17053947: 17053947
35 SDHB NM_003000.2(SDHB): c.50C> A (p.Thr17Asn) single nucleotide variant Uncertain significance rs138979875 GRCh37 Chromosome 1, 17380465: 17380465
36 SDHB NM_003000.2(SDHB): c.50C> A (p.Thr17Asn) single nucleotide variant Uncertain significance rs138979875 GRCh38 Chromosome 1, 17053970: 17053970
37 SDHB NM_003000.2(SDHB): c.203G> A (p.Cys68Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs587782904 GRCh37 Chromosome 1, 17359638: 17359638
38 SDHB NM_003000.2(SDHB): c.203G> A (p.Cys68Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs587782904 GRCh38 Chromosome 1, 17033143: 17033143
39 SDHB NM_003000.2(SDHB): c.640C> T (p.Gln214Ter) single nucleotide variant Pathogenic rs876658461 GRCh37 Chromosome 1, 17350470: 17350470
40 SDHB NM_003000.2(SDHB): c.640C> T (p.Gln214Ter) single nucleotide variant Pathogenic rs876658461 GRCh38 Chromosome 1, 17023975: 17023975
41 SDHB NM_003000.2(SDHB): c.587G> A (p.Cys196Tyr) single nucleotide variant Pathogenic rs876658367 GRCh37 Chromosome 1, 17350523: 17350523
42 SDHB NM_003000.2(SDHB): c.587G> A (p.Cys196Tyr) single nucleotide variant Pathogenic rs876658367 GRCh38 Chromosome 1, 17024028: 17024028
43 SDHB NM_003000.2(SDHB): c.221A> C (p.Asp74Ala) single nucleotide variant Uncertain significance rs876658713 GRCh37 Chromosome 1, 17359620: 17359620
44 SDHB NM_003000.2(SDHB): c.221A> C (p.Asp74Ala) single nucleotide variant Uncertain significance rs876658713 GRCh38 Chromosome 1, 17033125: 17033125
45 SDHB NM_003000.2(SDHB): c.201-?_765+?dup duplication Likely pathogenic
46 SDHB NM_003000.2(SDHB): c.709C> T (p.Pro237Ser) single nucleotide variant Uncertain significance rs186768244 GRCh37 Chromosome 1, 17349159: 17349159
47 SDHB NM_003000.2(SDHB): c.642+17T> C single nucleotide variant Likely benign rs200597595 GRCh37 Chromosome 1, 17350451: 17350451
48 SDHB NM_003000.2(SDHB): c.642+17T> C single nucleotide variant Likely benign rs200597595 GRCh38 Chromosome 1, 17023956: 17023956
49 SDHB NM_003000.2(SDHB): c.112C> T (p.Arg38Cys) single nucleotide variant Uncertain significance rs202119350 GRCh37 Chromosome 1, 17371344: 17371344
50 SDHB NM_003000.2(SDHB): c.112C> T (p.Arg38Cys) single nucleotide variant Uncertain significance rs202119350 GRCh38 Chromosome 1, 17044849: 17044849

Expression for Paragangliomas 4

Search GEO for disease gene expression data for Paragangliomas 4.

Pathways for Paragangliomas 4

GO Terms for Paragangliomas 4

Sources for Paragangliomas 4

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