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 57 53 75 29 13 6 73
Pgl4 57 53 75
Carotid Body Tumors and Multiple Extraadrenal Pheochromocytomas 57 75
Paragangliomas, Hereditary Extraadrenal 57 53
Pheochromocytoma, Familial Extraadrenal 57 53
Paraganglioma, Familial Malignant 57 53
Sdhb-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 53
Pheochromocytoma, Extraadrenal, and Cervical Paraganglioma 57
Pheochromocytoma, Extraadrenal and Cervical Paraganglioma 53
Pheochromocytoma Extraadrenal and Cervical Paraganglioma 75
Paragangliomas Hereditary Extraadrenal 75
Pheochromocytoma Familial Extraadrenal 75
Familial Chromaffin Paraganglioma 4 75
Paraganglioma Familial Malignant 75
Paragangliomas, Type 4 40
Paragangliolas 4 57

Characteristics:

OMIM:

57
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:

32
paragangliomas 4:
Onset and clinical course adult onset incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Paragangliomas 4

UniProtKB/Swiss-Prot : 75 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 hyperhidrosis and cranial nerve paralysis

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 11.1
3 pheochromocytoma 10.4
4 adrenal gland pheochromocytoma 10.4
5 paraganglioma 10.1

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



Diseases related to Paragangliomas 4

Symptoms & Phenotypes for Paragangliomas 4

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Paragangliomas 4:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 32 HP:0000975
2 cranial nerve paralysis 32 HP:0006824
3 renal cell carcinoma 32 HP:0005584
4 neuroblastoma 32 occasional (7.5%) HP:0003006
5 tachycardia 32 HP:0001649
6 elevated urinary catecholamines 32 HP:0011976
7 gastrointestinal stroma tumor 32 occasional (7.5%) HP:0100723
8 recurrent paroxysmal headache 32 HP:0002331
9 palpitations 32 HP:0001962
10 extraadrenal pheochromocytoma 32 HP:0006737
11 adrenal pheochromocytoma 32 HP:0006748
12 episodic paroxysmal anxiety 32 HP:0000740
13 hypertension associated with pheochromocytoma 32 HP:0002640
14 paraganglioma of head and neck 32 occasional (7.5%) HP:0002864
15 pulsatile tinnitus 32 HP:0008629
16 glomus jugular tumor 32 HP:0003001
17 chemodectoma 32 HP:0030074

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 29 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:

75
# 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 555)
# Gene Variation Type Significance SNP ID Assembly Location
1 SDHB NM_003000.2(SDHB): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs74315366 GRCh37 Chromosome 1, 17359573: 17359573
2 SDHB NM_003000.2(SDHB): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs74315366 GRCh38 Chromosome 1, 17033078: 17033078
3 SDHB NM_003000.2(SDHB): c.590C> G (p.Pro197Arg) single nucleotide variant Likely pathogenic rs74315367 GRCh37 Chromosome 1, 17350520: 17350520
4 SDHB NM_003000.2(SDHB): c.590C> G (p.Pro197Arg) single nucleotide variant Likely pathogenic rs74315367 GRCh38 Chromosome 1, 17024025: 17024025
5 SDHB NM_003000.2(SDHB): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic rs74315368 GRCh37 Chromosome 1, 17349143: 17349143
6 SDHB NM_003000.2(SDHB): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic rs74315368 GRCh38 Chromosome 1, 17022648: 17022648
7 SDHB NM_003000.2(SDHB): c.716_719delCTCT (p.Ser239Tyrfs) deletion Pathogenic rs587781266 GRCh38 Chromosome 1, 17022654: 17022657
8 SDHB NM_003000.2(SDHB): c.716_719delCTCT (p.Ser239Tyrfs) deletion Pathogenic rs587781266 GRCh37 Chromosome 1, 17349149: 17349152
9 SDHB NM_003000.2(SDHB): c.79C> T (p.Arg27Ter) single nucleotide variant Pathogenic rs74315369 GRCh37 Chromosome 1, 17371377: 17371377
10 SDHB NM_003000.2(SDHB): c.79C> T (p.Arg27Ter) single nucleotide variant Pathogenic rs74315369 GRCh38 Chromosome 1, 17044882: 17044882
11 SDHB NM_003000.2(SDHB): c.(?_-151)_(72+1_73-1)del deletion Pathogenic
12 SDHB NM_003000.2(SDHB): c.395A> C (p.His132Pro) single nucleotide variant Pathogenic rs74315372 GRCh37 Chromosome 1, 17355123: 17355123
13 SDHB NM_003000.2(SDHB): c.395A> C (p.His132Pro) single nucleotide variant Pathogenic rs74315372 GRCh38 Chromosome 1, 17028628: 17028628
14 SDHB NM_003000.2(SDHB): c.8C> G (p.Ala3Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs11203289 GRCh37 Chromosome 1, 17380507: 17380507
15 SDHB NM_003000.2(SDHB): c.8C> G (p.Ala3Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs11203289 GRCh38 Chromosome 1, 17054012: 17054012
16 SDHB NM_003000.2(SDHB): c.487T> C (p.Ser163Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs33927012 GRCh37 Chromosome 1, 17354297: 17354297
17 SDHB NM_003000.2(SDHB): c.487T> C (p.Ser163Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs33927012 GRCh38 Chromosome 1, 17027802: 17027802
18 SDHB NC_000001.10: g.17376556_17396932del20377 deletion Pathogenic GRCh37 Chromosome 1, 17376556: 17396932
19 SDHB NM_003000.2(SDHB): c.418G> T (p.Val140Phe) single nucleotide variant Pathogenic/Likely pathogenic rs267607032 GRCh37 Chromosome 1, 17355100: 17355100
20 SDHB NM_003000.2(SDHB): c.418G> T (p.Val140Phe) single nucleotide variant Pathogenic/Likely pathogenic rs267607032 GRCh38 Chromosome 1, 17028605: 17028605
21 SDHB NC_000001.10: g.17375249_17390927del15679 deletion Pathogenic GRCh37 Chromosome 1, 17375249: 17390927
22 SDHB NM_003000.2(SDHB): c.423+1G> A single nucleotide variant Pathogenic rs398122805 GRCh37 Chromosome 1, 17355094: 17355094
23 SDHB NM_003000.2(SDHB): c.423+1G> A single nucleotide variant Pathogenic rs398122805 GRCh38 Chromosome 1, 17028599: 17028599
24 SDHB NM_003000.2(SDHB): c.32G> A (p.Arg11His) single nucleotide variant Conflicting interpretations of pathogenicity rs111430410 GRCh37 Chromosome 1, 17380483: 17380483
25 SDHB NM_003000.2(SDHB): c.32G> A (p.Arg11His) single nucleotide variant Conflicting interpretations of pathogenicity rs111430410 GRCh38 Chromosome 1, 17053988: 17053988
26 SDHB NM_003000.2(SDHB): c.423+20T> A single nucleotide variant Conflicting interpretations of pathogenicity rs190139590 GRCh37 Chromosome 1, 17355075: 17355075
27 SDHB NM_003000.2(SDHB): c.423+20T> A single nucleotide variant Conflicting interpretations of pathogenicity rs190139590 GRCh38 Chromosome 1, 17028580: 17028580
28 SDHB NM_003000.2(SDHB): c.143A> T (p.Asp48Val) single nucleotide variant Likely pathogenic rs202101384 GRCh37 Chromosome 1, 17371313: 17371313
29 SDHB NM_003000.2(SDHB): c.143A> T (p.Asp48Val) single nucleotide variant Likely pathogenic rs202101384 GRCh38 Chromosome 1, 17044818: 17044818
30 SDHB NM_003000.2(SDHB): c.403G> A (p.Val135Met) single nucleotide variant Uncertain significance rs201585157 GRCh37 Chromosome 1, 17355115: 17355115
31 SDHB NM_003000.2(SDHB): c.403G> A (p.Val135Met) single nucleotide variant Uncertain significance rs201585157 GRCh38 Chromosome 1, 17028620: 17028620
32 SDHB NM_003000.2(SDHB): c.638T> C (p.Met213Thr) single nucleotide variant Uncertain significance rs202014362 GRCh37 Chromosome 1, 17350472: 17350472
33 SDHB NM_003000.2(SDHB): c.638T> C (p.Met213Thr) single nucleotide variant Uncertain significance rs202014362 GRCh38 Chromosome 1, 17023977: 17023977
34 SDHB NM_003000.2(SDHB): c.287-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs397516833 GRCh37 Chromosome 1, 17355232: 17355232
35 SDHB NM_003000.2(SDHB): c.287-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs397516833 GRCh38 Chromosome 1, 17028737: 17028737
36 SDHB NM_003000.2(SDHB): c.600G> A (p.Trp200Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516836 GRCh37 Chromosome 1, 17350510: 17350510
37 SDHB NM_003000.2(SDHB): c.600G> A (p.Trp200Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516836 GRCh38 Chromosome 1, 17024015: 17024015
38 SDHB NM_003000.2(SDHB): c.170A> G (p.His57Arg) single nucleotide variant Benign/Likely benign rs35962811 GRCh38 Chromosome 1, 17044791: 17044791
39 SDHB NM_003000.2(SDHB): c.170A> G (p.His57Arg) single nucleotide variant Benign/Likely benign rs35962811 GRCh37 Chromosome 1, 17371286: 17371286
40 SDHB NM_003000.2(SDHB): c.286+2T> A single nucleotide variant Pathogenic rs587781270 GRCh37 Chromosome 1, 17359553: 17359553
41 SDHB NM_003000.2(SDHB): c.286+2T> A single nucleotide variant Pathogenic rs587781270 GRCh38 Chromosome 1, 17033058: 17033058
42 SDHB NM_003000.2(SDHB): c.286G> A (p.Gly96Ser) single nucleotide variant Likely pathogenic rs587782243 GRCh37 Chromosome 1, 17359555: 17359555
43 SDHB NM_003000.2(SDHB): c.286G> A (p.Gly96Ser) single nucleotide variant Likely pathogenic rs587782243 GRCh38 Chromosome 1, 17033060: 17033060
44 SDHB NM_003000.2(SDHB): c.689G> A (p.Arg230His) single nucleotide variant Pathogenic rs587782604 GRCh37 Chromosome 1, 17349179: 17349179
45 SDHB NM_003000.2(SDHB): c.689G> A (p.Arg230His) single nucleotide variant Pathogenic rs587782604 GRCh38 Chromosome 1, 17022684: 17022684
46 SDHB NM_003000.2(SDHB): c.607_616delGGAGACAAAT (p.Gly203Ilefs) deletion Pathogenic rs587782617 GRCh37 Chromosome 1, 17350494: 17350503
47 SDHB NM_003000.2(SDHB): c.607_616delGGAGACAAAT (p.Gly203Ilefs) deletion Pathogenic rs587782617 GRCh38 Chromosome 1, 17023999: 17024008
48 SDHB NM_003000.2(SDHB): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs74315370 GRCh37 Chromosome 1, 17371320: 17371320
49 SDHB NM_003000.2(SDHB): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs74315370 GRCh38 Chromosome 1, 17044825: 17044825
50 SDHB NM_003000.2(SDHB): c.72+1G> T single nucleotide variant Pathogenic rs587782703 GRCh37 Chromosome 1, 17380442: 17380442

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

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....