MCID: PRG097
MIFTS: 34

Paragangliomas 1, with or Without Deafness malady

Genetic diseases, Rare diseases, Ear diseases, Endocrine diseases, Oral diseases, Cancer diseases categories

Summaries for Paragangliomas 1, with or Without Deafness

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OMIM:45 Paragangliomas, also referred to as 'glomus body tumors,' are tumors derived from paraganglia located throughout the... (168000) more...

MalaCards based summary: Paragangliomas 1, with or Without Deafness, also known as paragangliomas 1, is related to glomus tumor and subungual glomus tumor, and has symptoms including autosomal dominant inheritance, pulsatile tinnitus (tympanic paraganglioma) and conductive hearing impairment. An important gene associated with Paragangliomas 1, with or Without Deafness is SDHD (succinate dehydrogenase complex, subunit D, integral membrane protein). Affiliated tissues include bone.

NIH Rare Diseases:41 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

Aliases & Classifications for Paragangliomas 1, with or Without Deafness

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Paragangliomas 1, with or Without Deafness, Aliases & Descriptions:

Name: Paragangliomas 1, with or Without Deafness 45 10
Paragangliomas 1 45 41 22
off-Periods in Parkinson Disease Not Responding to Oral Treatment 41 47
Sdhd-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 41 20
Carotid Body Paraganglioma 41 60
Carotid Body Tumor 41 43
Glomus Tumor 41 60
Paraganglioma - Glomus Jugulare 41
Extra-Adrenal Paraganglioma 60
Paragangliomas Familial 1 41
 
Glomus Tumors Familial 1 41
Glomus Jugulare Tumors 41
Glomus Jugulare Tumor 60
Carotid Body Tumors 41
Paragangliomata 41
Paraganglioma 60
Chemodectomas 41
Pgl 1 41
Pgl 41
Cbt 41


Classifications:



External Ids:

OMIM45 168000
Orphanet47 391655

Related Diseases for Paragangliomas 1, with or Without Deafness

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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 for Paragangliomas 1, with or Without Deafness

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Symptoms by clinical synopsis from OMIM:

168000

Clinical features from OMIM:

168000

HPO human phenotypes related to Paragangliomas 1, with or Without Deafness:

(show all 24)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 pulsatile tinnitus (tympanic paraganglioma) HP:0000361
3 conductive hearing impairment HP:0000405
4 anxiety (with pheochromocytoma) HP:0000740
5 hyperhidrosis HP:0000975
6 diaphoresis (with pheochromocytoma) HP:0001011
7 vocal cord paralysis HP:0001605
8 vocal cord paralysis (caused by tumor impingement) HP:0001606
9 hoarse voice (caused by tumor impingement) HP:0001613
10 tachycardia HP:0001649
11 tachycardia (with pheochromocytoma) HP:0001673
12 palpitations (with pheochromocytoma) HP:0001676
13 loss of voice HP:0001686
14 palpitations HP:0001962
15 headache (with pheochromocytoma) HP:0002331
16 paraganglioma-related cranial nerve palsy HP:0002377
17 hypertension associated with pheochromocytoma HP:0002640
18 vagal paraganglioma HP:0002886
19 glomus jugular tumor HP:0003001
20 elevated circulating catecholamine level HP:0003334
21 adult onset HP:0003581
22 glomus tympanicum paraganglioma HP:0006715
23 extraadrenal pheochromocytoma HP:0006737
24 adrenal pheochromocytoma HP:0006748

Drugs & Therapeutics for Paragangliomas 1, with or Without Deafness

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Drug clinical trials:

Search ClinicalTrials for Paragangliomas 1, with or Without Deafness

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

Genetic Tests for Paragangliomas 1, with or Without Deafness

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

id Genetic test Affiliating Genes
1 Sdhd-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome20 SDHD
2 Paragangliomas 122

Anatomical Context for Paragangliomas 1, with or Without Deafness

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

31
Bone

Animal Models for Paragangliomas 1, with or Without Deafness or affiliated genes

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Publications for Paragangliomas 1, with or Without Deafness

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Variations for Paragangliomas 1, with or Without Deafness

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

62
id Symbol AA change Variation ID SNP ID
1SDHDp.Pro81LeuVAR_010038
2SDHDp.Asp92TyrVAR_010039
3SDHDp.His102LeuVAR_010040
4SDHDp.Tyr114CysVAR_017872
5SDHDp.Leu139ProVAR_017873
6SDHDp.Gly148ValVAR_054385

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

6 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1SDHDNM_003002.3(SDHD): c.106C> T (p.Gln36Ter)single nucleotide variantPathogenicrs104894303GRCh37Chr 11, 111958634: 111958634
2SDHDNM_003002.3(SDHD): c.112C> T (p.Arg38Ter)single nucleotide variantPathogenicrs80338843GRCh37Chr 11, 111958640: 111958640
3SDHDNM_003002.3(SDHD): c.52+2T> Gsingle nucleotide variantPathogenicGRCh38Chr 11, 112086961: 112086961
4SDHDNM_003002.3(SDHD): c.34G> A (p.Gly12Ser)single nucleotide variantPathogenicrs34677591GRCh37Chr 11, 111957665: 111957665
5SDHDNM_003002.3(SDHD): c.242C> T (p.Pro81Leu)single nucleotide variantPathogenicrs80338844GRCh37Chr 11, 111959663: 111959663
6SDHDNM_003002.3(SDHD): c.274G> T (p.Asp92Tyr)single nucleotide variantPathogenicrs80338845GRCh37Chr 11, 111959695: 111959695
7SDHDNM_003002.3(SDHD): c.305A> T (p.His102Leu)single nucleotide variantPathogenicrs104894302GRCh37Chr 11, 111959726: 111959726
8SDHDNM_003002.3(SDHD): c.337_338insT (p.Asp113Valfs)insertionPathogenicGRCh38Chr 11, 112094827: 112094828
9SDHDNM_003002.3(SDHD): c.341A> G (p.Tyr114Cys)single nucleotide variantPathogenicrs104894304GRCh37Chr 11, 111965555: 111965555
10SDHDNM_003002.3(SDHD): c.95C> A (p.Ser32Ter)single nucleotide variantPathogenicrs104894305GRCh37Chr 11, 111958623: 111958623
11SDHDNM_003002.3(SDHD): c.443delG (p.Gly148Alafs)deletionPathogenicGRCh38Chr 11, 112094933: 112094933
12SDHDNM_003002.3(SDHD): c.64C> T (p.Arg22Ter)single nucleotide variantPathogenicrs104894306GRCh37Chr 11, 111958592: 111958592
13SDHDNM_003002.3(SDHD): c.277_279delTAT (p.Tyr93del)deletionPathogenicrs121908983GRCh37Chr 11, 111959698: 111959700
14SDHDNM_003002.3(SDHD): c.3G> C (p.Met1Ile)single nucleotide variantPathogenicrs80338842GRCh37Chr 11, 111957634: 111957634
15SDHDNM_003002.3(SDHD): c.416T> C (p.Leu139Pro)single nucleotide variantPathogenicrs80338847GRCh37Chr 11, 111965630: 111965630
16SDHDNM_003002.3(SDHD): c.94_95delTC (p.Ala33Ilefs)deletionPathogenicrs397514034GRCh37Chr 11, 111958622: 111958623
17SDHDNM_003002.3(SDHD): c.463delA (p.Met155Cysfs)deletionPathogenicGRCh38Chr 11, 112094953: 112094953
18SDHDNM_003002.3(SDHD): c.337_340delGACT (p.Asp113Metfs)deletionPathogenicGRCh38Chr 11, 112094827: 112094830
19SDHDNM_003002.3(SDHD): c.129G> A (p.Trp43Ter)single nucleotide variantPathogenicrs104894308GRCh37Chr 11, 111958657: 111958657
20SDHDSDHD, 96-KB DELdeletionPathogenic

Expression for genes affiliated with Paragangliomas 1, with or Without Deafness

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

Pathways for genes affiliated with Paragangliomas 1, with or Without Deafness

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Compounds for genes affiliated with Paragangliomas 1, with or Without Deafness

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GO Terms for genes affiliated with Paragangliomas 1, with or Without Deafness

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Products for genes affiliated with Paragangliomas 1, with or Without Deafness

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Sources for Paragangliomas 1, with or Without Deafness

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet