PGL1
MCID: PRG097
MIFTS: 54

Paragangliomas 1, with or Without Deafness (PGL1) malady

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

Aliases & Classifications for Paragangliomas 1, with or Without Deafness

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

Name: Paragangliomas 1, with or Without Deafness 54 13
Paragangliomas 1 50 24 66 29
Glomus Jugulare Tumors 50 66 29
Chemodectomas 50 66 29
Sdhd-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 50 24
Carotid Body Paraganglioma 50 69
Paraganglioma Carotid Body 66 29
Paragangliomas Familial 1 50 66
Glomus Tumors Familial 1 50 66
Carotid Body Tumors 50 66
Carotid Body Tumor 50 52
Paragangliomata 50 66
Glomus Tumor 50 69
Pgl 50 66
Familial Paragangliomas Non-Chromaffin 1 with or Without Deafness 66
Familial Non-Chromaffin Paragangliomas 1 66
Paraganglioma - Glomus Jugulare 50
Extra-Adrenal Paraganglioma 69
Glomus Jugulare Tumor 69
Paraganglioma 69
Pgl 1 50
Cbt1 66
Pgl1 66
Cbt 50

Characteristics:

HPO:

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


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... (168000) more...

MalaCards based summary : Paragangliomas 1, with or Without Deafness, also known as paragangliomas 1, is related to glomus tumor and aneurysm, and has symptoms including recurrent paroxysmal headache, hyperhidrosis and cranial nerve paralysis. 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 Neuroscience and Carbon metabolism. The drugs Methyltestosterone and Testosterone have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are Decreased viability and homeostasis/metabolism

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 : 66 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 194)
id Related Disease Score Top Affiliating Genes
1 glomus tumor 30.4 KIT SYP
2 aneurysm 28.4 CALCA CHGA MEN1 NF1 RET SDHB
3 pheochromocytoma 27.6 CALCA CHGA FH MEN1 NF1 RET
4 abdominal chemodectomas with cutaneous angiolipomas 11.8
5 non-secreting chemodectoma 11.8
6 persistent generalized lymphadenopathy 11.6
7 paragangliomas 4 11.0
8 carotid body cancer 11.0
9 colorblindness, tritan 10.8
10 hereditary paraganglioma-pheochromocytoma syndromes 10.8
11 paraganglioma and gastric stromal sarcoma 10.3 SDHB SDHC SDHD
12 endophthalmitis 10.3 CALCA TG
13 glioma susceptibility 2 10.3 SDHB SDHC SDHD
14 wells-jankovic syndrome 10.3 CALCA SST
15 serous surface papilloma 10.3 SDHB SDHC SDHD
16 acute hemorrhagic encephalitis 10.3 RET TG
17 glomangioma 10.2 SDHB SDHD SYP
18 paraganglioma 10.2
19 panic disorder 10.2
20 corneal ectasia 10.2 CALCA TG
21 superior vena cava angiosarcoma 10.2 CALCA TG
22 tmem70 defect 10.2 RET TG
23 gastrinoma 10.2 CALCA RET TG
24 bladder flat intraepithelial lesion 10.2 SYP TG
25 nodular prostate 10.2 CALCA RET TG
26 intravenous leiomyomatosis 10.2 RET SDHB SDHC SDHD
27 endocervical adenocarcinoma 10.2 RET SDHB SDHC SDHD
28 peritoneal serous papillary adenocarcinoma 10.2 CALCA RET TG
29 leprosy 10.2
30 autoimmune hemolytic anemia 10.2 CALCA RET TG
31 secondary syphilis 10.2 CHGA SST
32 brain edema 10.2 CHGA SST
33 tenosynovitis of foot and ankle 10.2 CALCA RET TG
34 peroneal nerve paralysis 10.2 CHGA SYP
35 sweat gland cancer 10.2 KIT RET SST
36 thymus small cell carcinoma 10.1 CHGA SYP
37 brain stem ependymoma 10.1 CHGA SYP
38 immune system organ benign neoplasm 10.1 MEN1 SST TG
39 paranasal sinus cancer, adult 10.1 CALCA MEN1 SST
40 tabes dorsalis 10.1 MEN1 SST SYP
41 strabismus 10.1 MEN1 SYP TG
42 neuritis 10.1 SST SYP
43 gemistocytic astrocytoma 10.1 CALCA MEN1 SST
44 non specific chronic endometritis 10.1 CHGA SYP
45 extrahepatic biliary papillomatosis 10.1 CHGA SYP
46 postgastrectomy syndrome 10.1 NF1 SST SYP
47 prolactin producing pituitary tumor 10.1 CHGA SYP
48 medullomyoblastoma 10.1 SDHA SDHB SYP
49 hirschsprung disease 1 10.1 CALCA MEN1 RET
50 epithelioid malignant peripheral nerve sheath tumor 10.1 CHGA SYP

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 by clinical synopsis from OMIM:

168000

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 recurrent paroxysmal headache 32 HP:0002331
2 hyperhidrosis 32 HP:0000975
3 cranial nerve paralysis 32 HP:0006824
4 conductive hearing impairment 32 HP:0000405
5 vocal cord paralysis 32 HP:0001605
6 tachycardia 32 HP:0001649
7 palpitations 32 HP:0001962
8 episodic paroxysmal anxiety 32 HP:0000740
9 hypertension associated with pheochromocytoma 32 HP:0002640
10 glomus jugular tumor 32 HP:0003001
11 extraadrenal pheochromocytoma 32 HP:0006737
12 adrenal pheochromocytoma 32 HP:0006748
13 chemodectoma 32 HP:0030074
14 loss of voice 32 HP:0001686
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 Decreased viability GR00221-A-1 9.55 RET SDHD VHL KIT NF1
2 Decreased viability GR00221-A-2 9.55 RET SDHD VHL NF1
3 Decreased viability GR00221-A-4 9.55 RET SDHD NF1
4 Decreased viability GR00231-A 9.55 RET
5 Decreased viability GR00301-A 9.55 RET VHL KIT
6 Decreased viability GR00381-A-1 9.55 SDHD
7 Decreased sensitivity to paclitaxel GR00112-A-0 8.96 NF1 VHL

MGI Mouse Phenotypes related to Paragangliomas 1, with or Without Deafness:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.06 CHGA FH KIT MEN1 NF1 RET
2 mortality/aging MP:0010768 10.03 CHGA FH KIT MEN1 NF1 RET
3 endocrine/exocrine gland MP:0005379 10.02 CHGA KIT MEN1 NF1 RET SDHB
4 cardiovascular system MP:0005385 10.01 CHGA KIT MEN1 NF1 RET SDHB
5 neoplasm MP:0002006 9.7 SDHD VHL KIT MEN1 NF1 RET
6 normal MP:0002873 9.56 SST SYP VHL KIT NF1 RET
7 renal/urinary system MP:0005367 9.1 FH KIT NF1 RET VHL CHGA

Drugs & Therapeutics for Paragangliomas 1, with or Without Deafness

Drugs for Paragangliomas 1, with or Without Deafness (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 180)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methyltestosterone Approved Phase 4 58-18-4 6010
2
Testosterone Approved, Investigational Phase 4 58-22-0 6013
3
Doxazosin Approved Phase 4 74191-85-8 3157
4
Phenoxybenzamine Approved Phase 4 59-96-1 4768
5
Ethanol Approved Phase 4 64-17-5 702
6
Glyburide Approved Phase 4 10238-21-8 3488
7
Metformin Approved Phase 4 657-24-9 14219 4091
8 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1
9 Hormones Phase 4,Phase 2,Phase 3,Phase 1
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1
11 insulin Phase 4
12 Insulin, Globin Zinc Phase 4
13 Anabolic Agents Phase 4
14 Androgens Phase 4
15 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 1
16 Testosterone 17 beta-cypionate Phase 4
17
Testosterone enanthate Phase 4 315-37-7 9416
18 Testosterone undecanoate Phase 4
19 Adrenergic Agents Phase 4
20 Antihypertensive Agents Phase 4
21 Neurotransmitter Agents Phase 4
22 Anticholesteremic Agents Phase 4
23 Antimetabolites Phase 4,Phase 2,Phase 1
24 Calcium, Dietary Phase 4
25 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
26 Hypolipidemic Agents Phase 4
27 Lipid Regulating Agents Phase 4
28 Hypoglycemic Agents Phase 4
29 Adrenergic alpha-1 Receptor Antagonists Phase 4
30 Adrenergic alpha-Antagonists Phase 4
31 Adrenergic Antagonists Phase 4
32 Vasodilator Agents Phase 4
33 Rosuvastatin Calcium Phase 4 147098-20-2
34
Somatostatin Approved Phase 2, Phase 3,Phase 1 38916-34-6, 51110-01-1 53481605
35
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1 23214-92-8 31703
36
Ifosfamide Approved Phase 3 3778-73-2 3690
37
Lenograstim Approved Phase 3 135968-09-1
38
Mechlorethamine Approved Phase 3 51-75-2 4033
39
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
40
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
41
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
42
Doxil Approved June 1999 Phase 3,Phase 2,Phase 1 31703
43 3-Iodobenzylguanidine Phase 3,Phase 1,Phase 2
44 Radiopharmaceuticals Phase 3,Phase 1,Phase 2
45 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
46 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
47 Alkylating Agents Phase 3,Phase 1
48 Antineoplastic Agents, Alkylating Phase 3,Phase 1
49 Isophosphamide mustard Phase 3
50 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 90)
id Name Status NCT ID Phase
1 Randomized Clinical Trial of Posterior Retroperitoneoscopic Adrenalectomy Versus Lateral Laparoscopic Adrenalectomy Completed NCT01959711 Phase 4
2 Effect of 5 Years of GH Replacement on Atherosclerosis Completed NCT00462475 Phase 4
3 Testosterone for Men With Insulin Treated Type 2 Diabetes Completed NCT00349362 Phase 4
4 Phenoxybenzamine Versus Doxazosin in PCC Patients Recruiting NCT01379898 Phase 4
5 Stereotactic Body Radiotherapy for Head and Neck Tumors Active, not recruiting NCT01344356 Phase 4
6 Atherosclerosis in High Risk Population Groups: An Assessment by Magnetic Resonance Imaging Enrolling by invitation NCT02114697 Phase 4
7 Assessment of Dapagliflozin Effect on Diabetic Endothelial Dysfunction of Brachial Artery Not yet recruiting NCT02919345 Phase 4
8 123I-MIBG Scintigraphy in Patients Being Evaluated for Neuroendocrine Tumors Unknown status NCT01373736 Phase 3
9 Safety and Efficacy Study of In-111 Pentetreotide to Treat Neuroendocrine Tumors Completed NCT00442533 Phase 2, Phase 3
10 Meta-Iodobenzylguanidine (123I mIBG) Scintigraphy in Patients Being Evaluated for Phaeochromocytoma or Neuroblastoma Completed NCT00126412 Phase 3
11 Surgery With or Without Combination Chemotherapy in Treating Patients With Lung Metastases From Soft Tissue Sarcoma Completed NCT00002764 Phase 3
12 Surgery With or Without Chemotherapy in Treating Patients With Soft Tissue Sarcoma Completed NCT00002641 Phase 3
13 Preoperative Alpha Blockade for Pheochromocytoma Recruiting NCT03176693 Phase 3
14 A Study of CBT-1 and Paclitaxel With Carboplatin in Patients With Advanced Inoperable Non-small Cell Lung Cancer Terminated NCT00437749 Phase 3
15 Effect of Vitamin D Supplement on Inflammation Markers in High-Risk Cardiovascular Patients With Chronic Kidney Disease Terminated NCT01012414 Phase 3
16 RAD001 and Erlotinib in Patients With Neuroendocrine Tumors Unknown status NCT00843531 Phase 2
17 Study Of Sunitinib In Patients With Recurrent Paraganglioma/Pheochromocytoma Completed NCT00843037 Phase 2
18 Phase 1 Study of Iobenguane (MIBG) I 131 in Patients With Malignant Pheochromocytoma/Paraganglioma Completed NCT00458952 Phase 1, Phase 2
19 RAD001 in Pheochromocytoma or Nonfunctioning Carcinoid Completed NCT01152827 Phase 2
20 A Phase II Study of 131I- Metaiodobenzylguanidine (MIBG) for Treatment of Metastatic or Unresectable Pheochromocytoma and Related Tumors Completed NCT01413503 Phase 2
21 Linsitinib in Treating Patients With Gastrointestinal Stromal Tumors Completed NCT01560260 Phase 2
22 Leprosy Skin Test Antigens Trial Completed NCT00128193 Phase 2
23 131MIBG to Treat Malignant Pheochromocytoma Completed NCT00028106 Phase 2
24 A Broad Multi-histology Phase II Study of the Multi-Kinase Inhibitor R935788 (Fostamatinib Disodium) in Advanced Colorectal, Non-small Cell Lung, Head and Neck Hepatocellular and Renal Cell Carcinomas, and Pheochromocytoma and Thyroid Tumors (Multi-H... Completed NCT00923481 Phase 2
25 Combination Chemotherapy and Tamoxifen in Treating Patients With Solid Tumors Completed NCT00002608 Phase 2
26 Getting Physical on Cigarettes - Smoking Cessation & Relapse Prevention Completed NCT01305447 Phase 2
27 First International Randomized Study in Malignant Progressive Pheochromocytoma and Paraganglioma Recruiting NCT01371201 Phase 2
28 Effects of Cabozantinib in Patients With Unresectable Metastatic Pheochromocytomas and Paragangliomas Recruiting NCT02302833 Phase 2
29 Lenvatinib in Treating Patients With Metastatic or Advanced Pheochromocytoma or Paraganglioma That Cannot Be Removed by Surgery Recruiting NCT03008369 Phase 2
30 Iodine I 131 Metaiodobenzylguanidine in Treating Patients With Recurrent, Progressive, or Refractory Neuroblastoma or Malignant Pheochromocytoma or Paraganglioma Recruiting NCT00107289 Phase 2
31 Evaluation of Gallium-68 DOTA-TOC Imaging of Somatostatin Receptor Positive Malignancies Recruiting NCT02177773 Phase 2
32 PEN-221 in Somatostatin Receptor 2 Expressing Advanced Cancers Including Neuroendocrine and Small Cell Lung Cancers Recruiting NCT02936323 Phase 1, Phase 2
33 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
34 Study for the Evaluation of Efficacy of Pembrolizumab (MK-3475) in Patients With Rare Tumors Recruiting NCT02721732 Phase 2
35 Phase II Study of Axitinib (AG-013736) With Evaluation of the VEGF-pathway in Metastatic, Recurrent or Primary Unresectable Pheochromocytoma/Paraganglioma Active, not recruiting NCT01967576 Phase 2
36 A Study Evaluating Ultratrace Iobenguane I131 in Patients With Malignant Relapsed/Refractory Pheochromocytoma/Paraganglioma Active, not recruiting NCT00874614 Phase 2
37 Dovitinib in Neuroendocrine Tumors Active, not recruiting NCT01635907 Phase 2
38 177Lutetium-DOTA-Octreotate Therapy in Somatostatin Receptor-Expressing Neuroendocrine Neoplasms Active, not recruiting NCT01237457 Phase 2
39 A Phase II Trial of the DNA Methyl Transferase Inhibitor, Guadecitabine (SGI-110), in Children and Adults With Wild Type GIST,Pheochromocytoma and Paraganglioma Associated With Succinate Dehydrogenase Deficiency and HLRCC-associated Kidney Cancer Not yet recruiting NCT03165721 Phase 2
40 Phase 2 Study of ONC201 in Neuroendocrine Tumors Not yet recruiting NCT03034200 Phase 2
41 Pazopanib Hydrochloride in Treating Patients With Advanced or Progressive Malignant Pheochromocytoma or Paraganglioma Terminated NCT01340794 Phase 2
42 Internal Radiation Therapy in Treating Patients With Liver Metastases From Neuroendocrine Tumors Terminated NCT00466856 Phase 2
43 ULTRATRACE Iobenguane I 131 in Patients With Malignant Pheochromocytoma, Paraganglioma, or Metastatic Carcinoid Completed NCT00339131 Phase 1
44 Cognitive Behavioral Therapy for Insomnia in Chronic Pain Patients Completed NCT00133601 Phase 1
45 Temsirolimus and Vinorelbine Ditartrate in Treating Patients With Unresectable or Metastatic Solid Tumors Completed NCT01155258 Phase 1
46 Cixutumumab, Everolimus, and Octreotide Acetate in Treating Patients With Advanced Low to Intermediate Grade Neuroendocrine Carcinoma Completed NCT01204476 Phase 1
47 Vorinostat and Temozolomide in Treating Young Patients With Relapsed or Refractory Primary Brain Tumors or Spinal Cord Tumors Completed NCT01076530 Phase 1
48 Radiolabeled Octreotide in Treating Children With Advanced or Refractory Solid Tumors Completed NCT00049023 Phase 1
49 Everolimus and Vatalanib in Treating Patients With Advanced Solid Tumors Active, not recruiting NCT00655655 Phase 1
50 Veliparib, Capecitabine, and Temozolomide in Patients With Advanced, Metastatic, and Recurrent Neuroendocrine Tumor Not yet recruiting NCT02831179 Phase 1

Search 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:

66
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 29)
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.443delG (p.Gly148Alafs) deletion Pathogenic rs587776646 GRCh37 Chromosome 11, 111965657: 111965657
5 SDHD NM_003002.3(SDHD): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs80338844 GRCh37 Chromosome 11, 111959663: 111959663
6 SDHD NM_003002.3(SDHD): c.274G> T (p.Asp92Tyr) single nucleotide variant Pathogenic rs80338845 GRCh37 Chromosome 11, 111959695: 111959695
7 SDHD NM_003002.3(SDHD): c.305A> T (p.His102Leu) single nucleotide variant Pathogenic rs104894302 GRCh37 Chromosome 11, 111959726: 111959726
8 SDHD NM_003002.3(SDHD): c.337_338insT (p.Asp113Valfs) insertion Pathogenic rs587776645 GRCh38 Chromosome 11, 112094827: 112094828
9 SDHD NM_003002.3(SDHD): c.341A> G (p.Tyr114Cys) single nucleotide variant Pathogenic rs104894304 GRCh37 Chromosome 11, 111965555: 111965555
10 SDHD NM_003002.3(SDHD): c.95C> A (p.Ser32Ter) single nucleotide variant Pathogenic rs104894305 GRCh37 Chromosome 11, 111958623: 111958623
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 GRCh38 Chromosome 11, 112088870: 112088870
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 GRCh38 Chromosome 11, 112094851: 112094851
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
29 SDHD NM_003002.3(SDHD): c.298delA (p.Thr100Leufs) deletion Likely pathogenic GRCh37 Chromosome 11, 111959719: 111959719

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 mast cell granule GO:0042629 9.16 CHGA KIT
2 respiratory chain complex II GO:0045273 8.96 SDHB SDHC
3 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.92 SDHA SDHB SDHC SDHD

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.71 KIT MEN1 NF1 RET
2 negative regulation of osteoclast differentiation GO:0045671 9.52 CALCA NF1
3 response to pain GO:0048265 9.51 CALCA RET
4 respiratory electron transport chain GO:0022904 9.49 SDHA SDHB
5 regulation of long-term neuronal synaptic plasticity GO:0048169 9.48 NF1 SYP
6 mast cell degranulation GO:0043303 9.46 CHGA KIT
7 positive regulation of adenylate cyclase activity GO:0045762 9.43 CALCA NF1
8 succinate metabolic process GO:0006105 9.37 SDHA SDHB
9 mast cell chemotaxis GO:0002551 9.32 CHGA KIT
10 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.26 SDHA SDHD
11 mast cell cytokine production GO:0032762 9.16 CHGA KIT
12 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.13 NF1 PPP2R1B RET
13 tricarboxylic acid cycle GO:0006099 9.02 FH SDHA SDHB SDHC 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 hormone activity GO:0005179 9.5 CALCA SST TG
2 electron carrier activity GO:0009055 9.46 SDHA SDHB SDHC SDHD
3 ubiquinone binding GO:0048039 9.26 SDHB SDHD
4 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.13 SDHA SDHB SDHD
5 succinate dehydrogenase activity GO:0000104 8.8 SDHA 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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