MCID: PRG097
MIFTS: 42

Paragangliomas 1, with or Without Deafness

Categories: Genetic diseases, Rare diseases, Ear diseases

Aliases & Classifications for Paragangliomas 1, with or Without Deafness

MalaCards integrated aliases for Paragangliomas 1, with or Without Deafness:

Name: Paragangliomas 1, with or Without Deafness 54 13
Paragangliomas 1 50 24 71 29
Carotid Body Paraganglioma 50 29 69
Sdhd-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 50 24
Paragangliomas Familial 1 50 71
Glomus Tumors Familial 1 50 71
Glomus Jugulare Tumors 50 71
Carotid Body Tumors 50 71
Carotid Body Tumor 50 52
Paragangliomata 50 71
Chemodectomas 50 71
Glomus Tumor 50 69
Pgl 50 71
Familial Paragangliomas Non-Chromaffin 1 with or Without Deafness 71
Familial Non-Chromaffin Paragangliomas 1 71
Paraganglioma - Glomus Jugulare 50
Extra-Adrenal Paraganglioma 69
Paraganglioma Carotid Body 71
Glomus Tympanicum Tumor 69
Glomus Jugulare Tumor 69
Glomus Jugular Tumor 29
Paraganglioma 69
Chemodectoma 29
Pgl 1 50
Cbt1 71
Pgl1 71
Cbt 50

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
cells of origin are part of the diffuse neuroendocrine system (dnes)
signs and symptoms depend on tumor location and activity
adult onset (mean 30 years, range 5-60 years)
maternal imprinting
penetrance 86% by 50 years of age
patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both
see also pgl2 , pgl3 , and pgl4


HPO:

32
paragangliomas 1, with or without deafness:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Paragangliomas 1, with or Without Deafness

OMIM : 54
Paragangliomas, also referred to as 'glomus body tumors,' are tumors derived from paraganglia located throughout the body. Nonchromaffin types primarily serve as chemoreceptors (hence, the tumor name 'chemodectomas') and are located in the head and neck region (i.e., carotid body, jugular, vagal, and tympanic regions), whereas chromaffin types have endocrine activity, conventionally referred to as 'pheochromocytomas,' and are usually located below the head and neck (i.e., adrenal medulla and pre- and paravertebral thoracoabdominal regions). PGL can manifest as nonchromaffin head and neck tumors only, adrenal and/or extraadrenal pheochromocytomas only, or a combination of the 2 types of tumors (Baysal, 2002; Neumann et al., 2004). The triad of gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma constitutes a syndrome that occurs mainly in young women and is known as the Carney triad (604287). This triad is not to be confused with the other Carney syndrome of myxoma, spotty pigmentation, and endocrinopathy (160980). Baysal (2008) provided a review of the molecular pathogenesis of hereditary paraganglioma. (168000)

MalaCards based summary : Paragangliomas 1, with or Without Deafness, also known as paragangliomas 1, is related to paraganglioma and pheochromocytoma, and has symptoms including tachycardia, palpitations and loss of voice. An important gene associated with Paragangliomas 1, with or Without Deafness is SDHD (Succinate Dehydrogenase Complex Subunit D), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Carbon metabolism. Affiliated tissues include bone, and related phenotype is Increased shRNA abundance (Z-score > 2).

NIH Rare Diseases : 50 a glomus jugulare tumor develops when cells in nerves near the temporal bone of the skull begin to rapidly increase in number, forming a mass.  this tumor gets its name from the nerves, called glomus bodies, and their location in a small opening in the temporal bone, known as the jugulare foramen.  glomus jugulare tumors are included in a group of tumors called paragangliomas.  they are usually benign, meaning cells in the tumor are unlikely to spread to other parts of the body.  symptoms of a glomus jugulare tumor include dizziness, difficulty swallowing, hearing issues, pain, or weakness in the muscles of the face.  treatment includes surgery to remove the tumor, sometimes followed by radiation therapy. last updated: 1/28/2013

UniProtKB/Swiss-Prot : 71 Paragangliomas 1: A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. PGL1 is a rare autosomal dominant disorder which is characterized by the development of mostly benign, highly vascular, slowly growing tumors in the head and neck. In the head and neck region, the carotid body is the largest of all paraganglia and is also the most common site of the tumors.

Related Diseases for Paragangliomas 1, with or Without Deafness

Diseases related to Paragangliomas 1, with or Without Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
id Related Disease Score Top Affiliating Genes
1 paraganglioma 29.9 SDHB SDHC SDHD
2 pheochromocytoma 28.2 SDHB SDHC SDHD
3 non-secreting chemodectoma 11.8
4 abdominal chemodectomas with cutaneous angiolipomas 11.8
5 persistent generalized lymphadenopathy 11.6
6 hereditary paraganglioma-pheochromocytoma syndromes 11.4
7 paragangliomas 4 11.0
8 carotid body cancer 11.0
9 colorblindness, tritan 10.8
10 nonsyndromic paraganglioma 10.8
11 panic disorder 10.3
12 leprosy 10.2
13 agoraphobia 10.1
14 anxiety disorder 10.1
15 social phobia 10.0
16 bulimia nervosa 10.0
17 chronic fatigue syndrome 9.9
18 glomus tumor 9.9
19 mutism 9.8
20 obsessive-compulsive disorder 9.8
21 chronic pain 9.8
22 glomangioma 9.8 SDHB SDHD
23 syncope 9.8
24 atrioventricular block 9.8
25 third-degree atrioventricular block 9.8
26 ganglioneuroma 9.8
27 neuroendocrine tumor 9.8
28 eating disorder 9.7
29 conduct disorder 9.7
30 generalized anxiety disorder 9.7
31 multiple endocrine neoplasia iib 9.7 SDHB SDHD
32 bjornstad syndrome 9.7 SDHB SDHD
33 autism spectrum disorder 9.6
34 body dysmorphic disorder 9.6
35 acute stress disorder 9.6
36 schizophrenia 9.6
37 delusional disorder 9.6
38 stomach cancer 9.6
39 attention deficit-hyperactivity disorder 9.6
40 hypochondriasis 9.6
41 irritable bowel syndrome 9.6
42 substance dependence 9.6
43 pedophilia 9.6
44 trichotillomania 9.6
45 intellectual disability 9.6
46 stiff-person syndrome 9.6
47 asperger syndrome 9.6
48 post-traumatic stress disorder 9.6
49 sporadic hemiplegic migraine 9.4 SDHB SDHC
50 immunodeficiency, common variable, 5 9.4 SDHB SDHD

Graphical network of the top 20 diseases related to Paragangliomas 1, with or Without Deafness:



Diseases related to Paragangliomas 1, with or Without Deafness

Symptoms & Phenotypes for Paragangliomas 1, with or Without Deafness

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Ears:
pulsatile tinnitus (tympanic paraganglioma)
conductive hearing loss (in a subset of patients)

Cardiovascular- Vascular:
hypertension (with pheochromocytoma)

Skin Nails & Hair- Skin:
diaphoresis (with pheochromocytoma)

Neurologic- Behavioral Psychiatric Manifestations:
anxiety (with pheochromocytoma)

Neoplasia:
paragangliomas
chemodectomas
glomus jugular tumors
vagal nerve tumors (glomus vagale)
tympanic nerve tumors (glomus tympanicum)
more
Cardiovascular- Heart:
palpitations (with pheochromocytoma)
tachycardia (with pheochromocytoma)

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

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

Voice:
hoarse voice (caused by tumor impingement)
loss of voice

Laboratory- Abnormalities:
elevated catecholamines (in patients with pheochromocytoma)


Clinical features from OMIM:

168000

Human phenotypes related to Paragangliomas 1, with or Without Deafness:

32 (show all 17)
id Description HPO Frequency HPO Source Accession
1 tachycardia 32 HP:0001649
2 palpitations 32 HP:0001962
3 loss of voice 32 HP:0001686
4 vocal cord paralysis 32 HP:0001605
5 hyperhidrosis 32 HP:0000975
6 cranial nerve paralysis 32 HP:0006824
7 conductive hearing impairment 32 HP:0000405
8 recurrent paroxysmal headache 32 HP:0002331
9 episodic paroxysmal anxiety 32 HP:0000740
10 hypertension associated with pheochromocytoma 32 HP:0002640
11 glomus jugular tumor 32 HP:0003001
12 extraadrenal pheochromocytoma 32 very rare (1%) HP:0006737
13 adrenal pheochromocytoma 32 very rare (1%) HP:0006748
14 chemodectoma 32 HP:0030074
15 vagal paraganglioma 32 HP:0002886
16 elevated circulating catecholamine level 32 HP:0003334
17 glomus tympanicum paraganglioma 32 HP:0006715

UMLS symptoms related to Paragangliomas 1, with or Without Deafness:


aphonia

GenomeRNAi Phenotypes related to Paragangliomas 1, with or Without Deafness according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.17 SDHC
2 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.17 SDHC SDHD
3 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.17 SDHC
4 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.17 SDHC
5 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.17 SDHC SDHD

Drugs & Therapeutics for Paragangliomas 1, with or Without Deafness

Search Clinical Trials , NIH Clinical Center for Paragangliomas 1, with or Without Deafness

Genetic Tests for Paragangliomas 1, with or Without Deafness

Genetic tests related to Paragangliomas 1, with or Without Deafness:

id Genetic test Affiliating Genes
1 Paragangliomas 1 29
2 Glomus Jugular Tumor 29
3 Chemodectoma 29
4 Carotid Body Paraganglioma 29
5 Sdhd-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 24 SDHD

Anatomical Context for Paragangliomas 1, with or Without Deafness

MalaCards organs/tissues related to Paragangliomas 1, with or Without Deafness:

39
Bone

Publications for Paragangliomas 1, with or Without Deafness

Variations for Paragangliomas 1, with or Without Deafness

UniProtKB/Swiss-Prot genetic disease variations for Paragangliomas 1, with or Without Deafness:

71
id Symbol AA change Variation ID SNP ID
1 SDHD p.Pro81Leu VAR_010038 rs80338844
2 SDHD p.Asp92Tyr VAR_010039 rs80338845
3 SDHD p.His102Leu VAR_010040 rs104894302
4 SDHD p.Tyr114Cys VAR_017872 rs104894304
5 SDHD p.Leu139Pro VAR_017873 rs80338847
6 SDHD p.Gly148Val VAR_054385

ClinVar genetic disease variations for Paragangliomas 1, with or Without Deafness:

6 (show all 28)
id Gene Variation Type Significance SNP ID Assembly Location
1 SDHD NM_003002.3(SDHD): c.106C> T (p.Gln36Ter) single nucleotide variant Pathogenic rs104894303 GRCh37 Chromosome 11, 111958634: 111958634
2 SDHD NM_003002.3(SDHD): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs80338843 GRCh37 Chromosome 11, 111958640: 111958640
3 SDHD NM_003002.3(SDHD): c.52+2T> G single nucleotide variant Pathogenic rs587776644 GRCh38 Chromosome 11, 112086961: 112086961
4 SDHD NM_003002.3(SDHD): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs80338844 GRCh37 Chromosome 11, 111959663: 111959663
5 SDHD NM_003002.3(SDHD): c.274G> T (p.Asp92Tyr) single nucleotide variant Pathogenic rs80338845 GRCh37 Chromosome 11, 111959695: 111959695
6 SDHD NM_003002.3(SDHD): c.305A> T (p.His102Leu) single nucleotide variant Pathogenic rs104894302 GRCh37 Chromosome 11, 111959726: 111959726
7 SDHD NM_003002.3(SDHD): c.337_338insT (p.Asp113Valfs) insertion Pathogenic rs587776645 GRCh38 Chromosome 11, 112094827: 112094828
8 SDHD NM_003002.3(SDHD): c.341A> G (p.Tyr114Cys) single nucleotide variant Pathogenic rs104894304 GRCh37 Chromosome 11, 111965555: 111965555
9 SDHD NM_003002.3(SDHD): c.95C> A (p.Ser32Ter) single nucleotide variant Pathogenic rs104894305 GRCh37 Chromosome 11, 111958623: 111958623
10 SDHD NM_003002.3(SDHD): c.443delG (p.Gly148Alafs) deletion Pathogenic rs587776646 GRCh38 Chromosome 11, 112094933: 112094933
11 SDHD NM_003002.3(SDHD): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs104894306 GRCh37 Chromosome 11, 111958592: 111958592
12 SDHD NM_003002.3(SDHD): c.277_279delTAT (p.Tyr93del) deletion Pathogenic rs121908983 GRCh37 Chromosome 11, 111959698: 111959700
13 SDHD NM_003002.3(SDHD): c.3G> C (p.Met1Ile) single nucleotide variant Pathogenic rs80338842 GRCh37 Chromosome 11, 111957634: 111957634
14 SDHD NM_003002.3(SDHD): c.416T> C (p.Leu139Pro) single nucleotide variant Pathogenic rs80338847 GRCh37 Chromosome 11, 111965630: 111965630
15 SDHD NM_003002.3(SDHD): c.94_95delTC (p.Ala33Ilefs) deletion Pathogenic rs397514034 GRCh37 Chromosome 11, 111958622: 111958623
16 SDHD NM_003002.3(SDHD): c.463delA (p.Met155Cysfs) deletion Pathogenic rs587776647 GRCh38 Chromosome 11, 112094953: 112094953
17 SDHD NM_003002.3(SDHD): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs104894307 GRCh37 Chromosome 11, 111957632: 111957632
18 SDHD NM_003002.3(SDHD): c.337_340delGACT (p.Asp113Metfs) deletion Pathogenic rs587776648 GRCh38 Chromosome 11, 112094827: 112094830
19 SDHD NM_003002.3(SDHD): c.129G> A (p.Trp43Ter) single nucleotide variant Pathogenic rs104894308 GRCh37 Chromosome 11, 111958657: 111958657
20 SDHD SDHD, 96-KB DEL deletion Pathogenic
21 SDHD NM_003002.3(SDHD): c.-84_*831del deletion Pathogenic GRCh38 Chromosome 11, 112086824: 112095801
22 SDHD NM_003002.3(SDHD): c.10dupC (p.Leu4Profs) duplication Pathogenic rs878854589 GRCh37 Chromosome 11, 111957641: 111957641
23 SDHD NM_003002.3(SDHD): c.173delG (p.Gly58Alafs) deletion Pathogenic rs878854590 GRCh37 Chromosome 11, 111959594: 111959594
24 SDHD NM_003002.3(SDHD): c.242delC (p.Pro81Argfs) deletion Pathogenic rs878854591 GRCh38 Chromosome 11, 112088939: 112088939
25 SDHD NM_003002.3(SDHD): c.361C> T (p.Gln121Ter) single nucleotide variant Likely pathogenic rs878854594 GRCh37 Chromosome 11, 111965575: 111965575
26 SDHD NM_003002.3(SDHD): c.315G> A (p.Trp105Ter) single nucleotide variant Pathogenic rs1060503769 GRCh38 Chromosome 11, 112094805: 112094805
27 SDHD NM_003002.3(SDHD): c.394delT (p.Ser132Glnfs) deletion Likely pathogenic rs1060503773 GRCh38 Chromosome 11, 112094884: 112094884
28 SDHD NM_003002.3(SDHD): c.325C> T (p.Gln109Ter) single nucleotide variant Pathogenic rs1060503770 GRCh38 Chromosome 11, 112094815: 112094815

Expression for Paragangliomas 1, with or Without Deafness

Search GEO for disease gene expression data for Paragangliomas 1, with or Without Deafness.

Pathways for Paragangliomas 1, with or Without Deafness

GO Terms for Paragangliomas 1, with or Without Deafness

Cellular components related to Paragangliomas 1, with or Without Deafness according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.43 SDHB SDHC SDHD
2 mitochondrial inner membrane GO:0005743 9.33 SDHB SDHC SDHD
3 respiratory chain complex II GO:0045273 8.96 SDHB SDHC
4 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.8 SDHB SDHC SDHD

Biological processes related to Paragangliomas 1, with or Without Deafness according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.43 SDHB SDHC SDHD
2 aerobic respiration GO:0009060 9.16 SDHB SDHC
3 tricarboxylic acid cycle GO:0006099 8.8 SDHB SDHC SDHD
4 mitochondrial electron transport, succinate to ubiquinone GO:0006121 8.65 SDHD

Molecular functions related to Paragangliomas 1, with or Without Deafness according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.32 SDHC SDHD
2 ubiquinone binding GO:0048039 9.26 SDHB SDHD
3 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.16 SDHB SDHD
4 succinate dehydrogenase activity GO:0000104 8.96 SDHC SDHD
5 electron carrier activity GO:0009055 8.8 SDHB SDHC SDHD

Sources for Paragangliomas 1, with or Without Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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