PGL4
MCID: PRG021
MIFTS: 24

Paragangliomas 4 (PGL4)

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

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 11.1
2 neuroblastoma 11.0

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

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 447)
# 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.418G> T (p.Val140Phe) single nucleotide variant Pathogenic/Likely pathogenic rs267607032 GRCh37 Chromosome 1, 17355100: 17355100
15 SDHB NM_003000.2(SDHB): c.418G> T (p.Val140Phe) single nucleotide variant Pathogenic/Likely pathogenic rs267607032 GRCh38 Chromosome 1, 17028605: 17028605
16 SDHB NC_000001.10: g.17375249_17390927del15679 deletion Pathogenic GRCh37 Chromosome 1, 17375249: 17390927
17 SDHB NC_000001.10: g.17376556_17396932del20377 deletion Pathogenic GRCh37 Chromosome 1, 17376556: 17396932
18 SDHB NM_003000.2(SDHB): c.423+1G> A single nucleotide variant Pathogenic rs398122805 GRCh37 Chromosome 1, 17355094: 17355094
19 SDHB NM_003000.2(SDHB): c.423+1G> A single nucleotide variant Pathogenic rs398122805 GRCh38 Chromosome 1, 17028599: 17028599
20 SDHB NM_003000.2(SDHB): c.287-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs397516833 GRCh37 Chromosome 1, 17355232: 17355232
21 SDHB NM_003000.2(SDHB): c.287-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs397516833 GRCh38 Chromosome 1, 17028737: 17028737
22 SDHB NM_003000.2(SDHB): c.286+2T> A single nucleotide variant Pathogenic rs587781270 GRCh37 Chromosome 1, 17359553: 17359553
23 SDHB NM_003000.2(SDHB): c.286+2T> A single nucleotide variant Pathogenic rs587781270 GRCh38 Chromosome 1, 17033058: 17033058
24 SDHB NM_003000.2(SDHB): c.689G> A (p.Arg230His) single nucleotide variant Pathogenic rs587782604 GRCh37 Chromosome 1, 17349179: 17349179
25 SDHB NM_003000.2(SDHB): c.689G> A (p.Arg230His) single nucleotide variant Pathogenic rs587782604 GRCh38 Chromosome 1, 17022684: 17022684
26 SDHB NM_003000.2(SDHB): c.607_616delGGAGACAAAT (p.Gly203Ilefs) deletion Pathogenic rs587782617 GRCh37 Chromosome 1, 17350494: 17350503
27 SDHB NM_003000.2(SDHB): c.607_616delGGAGACAAAT (p.Gly203Ilefs) deletion Pathogenic rs587782617 GRCh38 Chromosome 1, 17023999: 17024008
28 SDHB NM_003000.2(SDHB): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs74315370 GRCh37 Chromosome 1, 17371320: 17371320
29 SDHB NM_003000.2(SDHB): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs74315370 GRCh38 Chromosome 1, 17044825: 17044825
30 SDHB NM_003000.2(SDHB): c.72+1G> T single nucleotide variant Pathogenic rs587782703 GRCh37 Chromosome 1, 17380442: 17380442
31 SDHB NM_003000.2(SDHB): c.72+1G> T single nucleotide variant Pathogenic rs587782703 GRCh38 Chromosome 1, 17053947: 17053947
32 SDHB NM_003000.2(SDHB): c.79C> G (p.Arg27Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs74315369 GRCh37 Chromosome 1, 17371377: 17371377
33 SDHB NM_003000.2(SDHB): c.79C> G (p.Arg27Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs74315369 GRCh38 Chromosome 1, 17044882: 17044882
34 SDHB NM_003000.2(SDHB): c.300T> C (p.Ser100=) single nucleotide variant Benign/Likely benign rs11541235 GRCh37 Chromosome 1, 17355218: 17355218
35 SDHB NM_003000.2(SDHB): c.300T> C (p.Ser100=) single nucleotide variant Benign/Likely benign rs11541235 GRCh38 Chromosome 1, 17028723: 17028723
36 SDHB NM_003000.2(SDHB): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic rs786203251 GRCh37 Chromosome 1, 17349144: 17349144
37 SDHB NM_003000.2(SDHB): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic rs786203251 GRCh38 Chromosome 1, 17022649: 17022649
38 SDHB NM_003000.2(SDHB): c.689G> T (p.Arg230Leu) single nucleotide variant Pathogenic/Likely pathogenic rs587782604 GRCh37 Chromosome 1, 17349179: 17349179
39 SDHB NM_003000.2(SDHB): c.689G> T (p.Arg230Leu) single nucleotide variant Pathogenic/Likely pathogenic rs587782604 GRCh38 Chromosome 1, 17022684: 17022684
40 SDHB NM_003000.2(SDHB): c.688C> T (p.Arg230Cys) single nucleotide variant Pathogenic rs138996609 GRCh37 Chromosome 1, 17349180: 17349180
41 SDHB NM_003000.2(SDHB): c.688C> T (p.Arg230Cys) single nucleotide variant Pathogenic rs138996609 GRCh38 Chromosome 1, 17022685: 17022685
42 SDHB NM_003000.2(SDHB): c.649C> T (p.Arg217Cys) single nucleotide variant Likely pathogenic rs200245469 GRCh37 Chromosome 1, 17349219: 17349219
43 SDHB NM_003000.2(SDHB): c.649C> T (p.Arg217Cys) single nucleotide variant Likely pathogenic rs200245469 GRCh38 Chromosome 1, 17022724: 17022724
44 SDHB NM_003000.2(SDHB): c.600G> T (p.Trp200Cys) single nucleotide variant Pathogenic rs397516836 GRCh37 Chromosome 1, 17350510: 17350510
45 SDHB NM_003000.2(SDHB): c.600G> T (p.Trp200Cys) single nucleotide variant Pathogenic rs397516836 GRCh38 Chromosome 1, 17024015: 17024015
46 SDHB NM_003000.2(SDHB): c.423C> T (p.Pro141=) single nucleotide variant Conflicting interpretations of pathogenicity rs150542357 GRCh37 Chromosome 1, 17355095: 17355095
47 SDHB NM_003000.2(SDHB): c.423C> T (p.Pro141=) single nucleotide variant Conflicting interpretations of pathogenicity rs150542357 GRCh38 Chromosome 1, 17028600: 17028600
48 SDHB NM_003000.2(SDHB): c.380T> G (p.Ile127Ser) single nucleotide variant Pathogenic rs786201095 GRCh37 Chromosome 1, 17355138: 17355138
49 SDHB NM_003000.2(SDHB): c.380T> G (p.Ile127Ser) single nucleotide variant Pathogenic rs786201095 GRCh38 Chromosome 1, 17028643: 17028643
50 SDHB NM_003000.2(SDHB): c.286+1G> A single nucleotide variant Likely pathogenic rs786201063 GRCh37 Chromosome 1, 17359554: 17359554

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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