MCID: PRG021
MIFTS: 25

Paragangliomas 4

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

Aliases & Classifications for Paragangliomas 4

MalaCards integrated aliases for Paragangliomas 4:

Name: Paragangliomas 4 53 49 71 28 13 69
Pgl4 53 49 71
Carotid Body Tumors and Multiple Extraadrenal Pheochromocytomas 53 71
Paragangliomas, Hereditary Extraadrenal 53 49
Pheochromocytoma, Familial Extraadrenal 53 49
Paraganglioma, Familial Malignant 53 49
Sdhb-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 49
Pheochromocytoma, Extraadrenal, and Cervical Paraganglioma 53
Pheochromocytoma, Extraadrenal and Cervical Paraganglioma 49
Pheochromocytoma Extraadrenal and Cervical Paraganglioma 71
Paragangliomas Hereditary Extraadrenal 71
Pheochromocytoma Familial Extraadrenal 71
Familial Chromaffin Paraganglioma 4 71
Paraganglioma Familial Malignant 71

Characteristics:

OMIM:

53
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:

31
paragangliomas 4:
Onset and clinical course adult onset incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Paragangliomas 4

UniProtKB/Swiss-Prot : 71 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, and has symptoms including recurrent paroxysmal headache, hyperhidrosis and cranial nerve paralysis. An important gene associated with Paragangliomas 4 is SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B).

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
3 paraganglioma 9.7

Symptoms & Phenotypes for Paragangliomas 4

Symptoms via clinical synopsis from OMIM:

53
CardiovascularHeart:
tachycardia (with pheochromocytoma)
palpitations (with pheochromocytoma)

CardiovascularVascular:
hypertension (with pheochromocytoma)

NeurologicCentralNervousSystem:
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
HeadAndNeckEars:
pulsatile tinnitus (tympanic paraganglioma)

SkinNailsHairSkin:
diaphoresis (with pheochromocytoma)

NeurologicBehavioralPsychiatricManifestations:
anxiety (with pheochromocytoma)

LaboratoryAbnormalities:
increased urinary catecholamines (with pheochromocytoma)


Clinical features from OMIM:

115310

Human phenotypes related to Paragangliomas 4:

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 renal cell carcinoma 31 HP:0005584
5 neuroblastoma 31 occasional (7.5%) HP:0003006
6 tachycardia 31 HP:0001649
7 elevated urinary catecholamines 31 HP:0011976
8 gastrointestinal stroma tumor 31 occasional (7.5%) HP:0100723
9 palpitations 31 HP:0001962
10 extraadrenal pheochromocytoma 31 HP:0006737
11 adrenal pheochromocytoma 31 HP:0006748
12 episodic paroxysmal anxiety 31 HP:0000740
13 hypertension associated with pheochromocytoma 31 HP:0002640
14 pulsatile tinnitus 31 HP:0008629
15 glomus jugular tumor 31 HP:0003001
16 chemodectoma 31 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 28 SDHB

Anatomical Context for Paragangliomas 4

Publications for Paragangliomas 4

Articles related to Paragangliomas 4:

# Title Authors Year
1
Comparison of the responsiveness of the pGL3 and pGL4 luciferase reporter vectors to steroid hormones. ( 16116793 )
2005

Variations for Paragangliomas 4

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

71
# 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 55)
# 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.590C> G (p.Pro197Arg) single nucleotide variant Pathogenic/Likely pathogenic rs74315367 GRCh37 Chromosome 1, 17350520: 17350520
3 SDHB NM_003000.2(SDHB): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic rs74315368 GRCh37 Chromosome 1, 17349143: 17349143
4 SDHB NM_003000.2(SDHB): c.716_719delCTCT (p.Ser239Tyrfs) deletion Pathogenic rs587781266 GRCh38 Chromosome 1, 17022654: 17022657
5 SDHB NM_003000.2(SDHB): c.79C> T (p.Arg27Ter) single nucleotide variant Pathogenic rs74315369 GRCh37 Chromosome 1, 17371377: 17371377
6 SDHB NM_003000.2(SDHB): c.(?_-151)_(72+1_73-1)del deletion Pathogenic
7 SDHB NM_003000.2(SDHB): c.395A> C (p.His132Pro) single nucleotide variant Pathogenic rs74315372 GRCh37 Chromosome 1, 17355123: 17355123
8 SDHB NM_003000.2(SDHB): c.418G> T (p.Val140Phe) single nucleotide variant Pathogenic/Likely pathogenic rs267607032 GRCh37 Chromosome 1, 17355100: 17355100
9 SDHB NC_000001.10: g.17375249_17390927del15679 deletion Pathogenic GRCh37 Chromosome 1, 17375249: 17390927
10 SDHB NC_000001.10: g.17376556_17396932del20377 deletion Pathogenic GRCh37 Chromosome 1, 17376556: 17396932
11 SDHB NM_003000.2(SDHB): c.423+1G> A single nucleotide variant Pathogenic rs398122805 GRCh37 Chromosome 1, 17355094: 17355094
12 SDHB NM_003000.2(SDHB): c.287-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs397516833 GRCh37 Chromosome 1, 17355232: 17355232
13 SDHB NM_003000.2(SDHB): c.286+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs587781270 GRCh38 Chromosome 1, 17033058: 17033058
14 SDHB NM_003000.2(SDHB): c.689G> A (p.Arg230His) single nucleotide variant Pathogenic rs587782604 GRCh37 Chromosome 1, 17349179: 17349179
15 SDHB NM_003000.2(SDHB): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs74315370 GRCh38 Chromosome 1, 17044825: 17044825
16 SDHB NM_003000.2(SDHB): c.72+1G> T single nucleotide variant Pathogenic rs587782703 GRCh37 Chromosome 1, 17380442: 17380442
17 SDHB NM_003000.2(SDHB): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic rs786203251 GRCh38 Chromosome 1, 17022649: 17022649
18 SDHB NM_003000.2(SDHB): c.689G> T (p.Arg230Leu) single nucleotide variant Pathogenic/Likely pathogenic rs587782604 GRCh37 Chromosome 1, 17349179: 17349179
19 SDHB NM_003000.2(SDHB): c.688C> T (p.Arg230Cys) single nucleotide variant Pathogenic rs138996609 GRCh37 Chromosome 1, 17349180: 17349180
20 SDHB NM_003000.2(SDHB): c.649C> T (p.Arg217Cys) single nucleotide variant Likely pathogenic rs200245469 GRCh37 Chromosome 1, 17349219: 17349219
21 SDHB NM_003000.2(SDHB): c.600G> T (p.Trp200Cys) single nucleotide variant Pathogenic rs397516836 GRCh37 Chromosome 1, 17350510: 17350510
22 SDHB NM_003000.2(SDHB): c.380T> G (p.Ile127Ser) single nucleotide variant Pathogenic/Likely pathogenic rs786201095 GRCh37 Chromosome 1, 17355138: 17355138
23 SDHB NM_003000.2(SDHB): c.166_170delCCTCA (p.Pro56Tyrfs) deletion Pathogenic rs786202100 GRCh37 Chromosome 1, 17371286: 17371290
24 SDHB NM_003000.2(SDHB): c.137G> A (p.Arg46Gln) single nucleotide variant Pathogenic/Likely pathogenic rs772551056 GRCh37 Chromosome 1, 17371319: 17371319
25 SDHB NM_003000.2(SDHB): c.343C> T (p.Arg115Ter) single nucleotide variant Pathogenic rs751000085 GRCh37 Chromosome 1, 17355175: 17355175
26 SDHB NM_003000.2(SDHB): c.640C> T (p.Gln214Ter) single nucleotide variant Pathogenic rs876658461 GRCh37 Chromosome 1, 17350470: 17350470
27 SDHB NM_003000.2(SDHB): c.587G> A (p.Cys196Tyr) single nucleotide variant Pathogenic rs876658367 GRCh37 Chromosome 1, 17350523: 17350523
28 SDHB NM_003000.2(SDHB): c.-151_*159del deletion Pathogenic GRCh38 Chromosome 1, 17018722: 17054170
29 SDHB NM_003000.2(SDHB): c.724C> A (p.Arg242Ser) single nucleotide variant Pathogenic/Likely pathogenic rs786203251 GRCh37 Chromosome 1, 17349144: 17349144
30 SDHB NM_003000.2(SDHB): c.296G> A (p.Gly99Asp) single nucleotide variant Likely pathogenic rs878854576 GRCh37 Chromosome 1, 17355222: 17355222
31 SDHB NM_003000.2(SDHB): c.271A> T (p.Arg91Ter) single nucleotide variant Pathogenic rs878854575 GRCh37 Chromosome 1, 17359570: 17359570
32 SDHB NM_003000.2(SDHB): c.201-2A> C single nucleotide variant Likely pathogenic rs878854574 GRCh37 Chromosome 1, 17359642: 17359642
33 SDHB NM_003000.2(SDHB): c.126delT (p.Phe42Leufs) deletion Pathogenic rs878854572 GRCh37 Chromosome 1, 17371330: 17371330
34 SDHB NM_003000.2(SDHB): c.201-?_765+?dup duplication Likely pathogenic
35 SDHB NC_000001.11: g.(?_17044761)_(17044888_?)del deletion Pathogenic GRCh37 Chromosome 1, 17371256: 17371383
36 SDHB NM_003000.2(SDHB): c.717dupT (p.Leu240Serfs) duplication Pathogenic/Likely pathogenic rs1060503764 GRCh38 Chromosome 1, 17022656: 17022656
37 SDHB NM_003000.2(SDHB): c.620_621delTG (p.Leu207Argfs) deletion Pathogenic rs1060503752 GRCh38 Chromosome 1, 17023994: 17023995
38 SDHB NM_003000.2(SDHB): c.591delC (p.Ser198Alafs) deletion Pathogenic rs1060503757 GRCh38 Chromosome 1, 17024024: 17024024
39 SDHB NM_003000.2(SDHB): c.602G> A (p.Trp201Ter) single nucleotide variant Pathogenic rs1060503759 GRCh38 Chromosome 1, 17024013: 17024013
40 SDHB NM_003000.2(SDHB): c.499A> T (p.Lys167Ter) single nucleotide variant Pathogenic rs1060503753 GRCh38 Chromosome 1, 17027790: 17027790
41 SDHB NM_003000.2(SDHB): c.331_332delCT (p.Leu111Serfs) deletion Pathogenic rs1060503751 GRCh38 Chromosome 1, 17028691: 17028692
42 SDHB NM_003000.2(SDHB): c.374C> G (p.Ser125Ter) single nucleotide variant Pathogenic rs786203506 GRCh38 Chromosome 1, 17028649: 17028649
43 SDHB NM_003000.2(SDHB): c.441T> G (p.Tyr147Ter) single nucleotide variant Pathogenic rs1060503763 GRCh38 Chromosome 1, 17027848: 17027848
44 SDHB NM_003000.2(SDHB): c.137G> T (p.Arg46Leu) single nucleotide variant Likely pathogenic rs772551056 GRCh38 Chromosome 1, 17044824: 17044824
45 SDHB NM_003000.2(SDHB): c.141G> A (p.Trp47Ter) single nucleotide variant Pathogenic rs1060503762 GRCh38 Chromosome 1, 17044820: 17044820
46 SDHB NM_003000.2(SDHB): c.22_23delTC (p.Ser8Leufs) deletion Pathogenic rs1060503767 GRCh38 Chromosome 1, 17053997: 17053998
47 SDHB NM_003000.2(SDHB): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic/Likely pathogenic rs1131691061 GRCh37 Chromosome 1, 17380512: 17380512
48 SDHB NC_000001.11: g.(?_17018875)_(17044894_?)del deletion Pathogenic GRCh38 Chromosome 1, 17018875: 17044894
49 SDHB NC_000001.10: g.(?_17380437)_(17380520_?)del deletion Pathogenic GRCh37 Chromosome 1, 17380437: 17380520
50 SDHB NM_003000.2(SDHB): c.697A> T (p.Lys233Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 17022676: 17022676

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
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
Content
Loading form....