MCID: PRG094
MIFTS: 20

Paragangliomas 5

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

Aliases & Classifications for Paragangliomas 5

MalaCards integrated aliases for Paragangliomas 5:

Name: Paragangliomas 5 57 75 29 13 6 73
Pgl5 57 75
Paragangliomas, Type 5 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable locations


HPO:

32
paragangliomas 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614165
MedGen 42 C3279992
MeSH 44 D010235
UMLS 73 C3279992

Summaries for Paragangliomas 5

UniProtKB/Swiss-Prot : 75 Paragangliomas 5: 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 5, also known as pgl5, is related to hepatitis and paraganglioma. An important gene associated with Paragangliomas 5 is SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A). Related phenotype is paraganglioma.

Description from OMIM: 614165

Related Diseases for Paragangliomas 5

Diseases in the Paraganglioma family:

Paragangliomas 4 Paragangliomas 1
Paragangliomas 2 Paragangliomas 3
Paragangliomas 5 Nonsyndromic Paraganglioma

Diseases related to Paragangliomas 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hepatitis 9.7
2 paraganglioma 9.7
3 mitochondrial complex ii deficiency 9.1 CCDC127 SDHA
4 leigh syndrome 8.9 CCDC127 SDHA

Symptoms & Phenotypes for Paragangliomas 5

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
paraganglioma


Clinical features from OMIM:

614165

Human phenotypes related to Paragangliomas 5:

32
# Description HPO Frequency HPO Source Accession
1 paraganglioma 32 HP:0002668

Drugs & Therapeutics for Paragangliomas 5

Search Clinical Trials , NIH Clinical Center for Paragangliomas 5

Genetic Tests for Paragangliomas 5

Genetic tests related to Paragangliomas 5:

# Genetic test Affiliating Genes
1 Paragangliomas 5 29 SDHA

Anatomical Context for Paragangliomas 5

Publications for Paragangliomas 5

Articles related to Paragangliomas 5:

# Title Authors Year
1
Hepatic metastasis of a carotid body paraganglioma 5 years after resection of the primary tumor. ( 23635567 )
2013

Variations for Paragangliomas 5

UniProtKB/Swiss-Prot genetic disease variations for Paragangliomas 5:

75
# Symbol AA change Variation ID SNP ID
1 SDHA p.Arg589Trp VAR_065975 rs387906780

ClinVar genetic disease variations for Paragangliomas 5:

6
(show top 50) (show all 938)
# Gene Variation Type Significance SNP ID Assembly Location
1 SDHA NM_004168.3(SDHA): c.667delG (p.Asp223Ilefs) deletion Pathogenic rs587782077 GRCh37 Chromosome 5, 228345: 228345
2 SDHA NM_004168.3(SDHA): c.667delG (p.Asp223Ilefs) deletion Pathogenic rs587782077 GRCh38 Chromosome 5, 228230: 228230
3 SDHA NM_004168.3(SDHA): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs142441643 GRCh37 Chromosome 5, 223624: 223624
4 SDHA NM_004168.3(SDHA): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs142441643 GRCh38 Chromosome 5, 223509: 223509
5 SDHA NM_004168.3(SDHA): c.1753C> T (p.Arg585Trp) single nucleotide variant Uncertain significance rs200397144 GRCh38 Chromosome 5, 251427: 251427
6 SDHA NM_004168.3(SDHA): c.1753C> T (p.Arg585Trp) single nucleotide variant Uncertain significance rs200397144 GRCh37 Chromosome 5, 251542: 251542
7 SDHA NM_004168.3(SDHA): c.1549A> G (p.Lys517Glu) single nucleotide variant Uncertain significance rs786205210 GRCh38 Chromosome 5, 240474: 240474
8 SDHA NM_004168.3(SDHA): c.1549A> G (p.Lys517Glu) single nucleotide variant Uncertain significance rs786205210 GRCh37 Chromosome 5, 240589: 240589
9 SDHA NM_004168.3(SDHA): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs781764920 GRCh37 Chromosome 5, 224547: 224547
10 SDHA NM_004168.3(SDHA): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs781764920 GRCh38 Chromosome 5, 224432: 224432
11 SDHA NM_004168.3(SDHA): c.1591G> A (p.Val531Met) single nucleotide variant Uncertain significance rs371056571 GRCh37 Chromosome 5, 251146: 251146
12 SDHA NM_004168.3(SDHA): c.1591G> A (p.Val531Met) single nucleotide variant Uncertain significance rs371056571 GRCh38 Chromosome 5, 251031: 251031
13 SDHA NM_004168.3(SDHA): c.994C> G (p.Pro332Ala) single nucleotide variant Uncertain significance rs373509391 GRCh37 Chromosome 5, 233690: 233690
14 SDHA NM_004168.3(SDHA): c.994C> G (p.Pro332Ala) single nucleotide variant Uncertain significance rs373509391 GRCh38 Chromosome 5, 233575: 233575
15 SDHA NM_004168.3(SDHA): c.550G> A (p.Gly184Arg) single nucleotide variant Benign/Likely benign rs148246073 GRCh38 Chromosome 5, 225976: 225976
16 SDHA NM_004168.3(SDHA): c.550G> A (p.Gly184Arg) single nucleotide variant Benign/Likely benign rs148246073 GRCh37 Chromosome 5, 226091: 226091
17 SDHA NM_004168.3(SDHA): c.704T> C (p.Ile235Thr) single nucleotide variant Uncertain significance rs144513891 GRCh37 Chromosome 5, 228382: 228382
18 SDHA NM_004168.3(SDHA): c.704T> C (p.Ile235Thr) single nucleotide variant Uncertain significance rs144513891 GRCh38 Chromosome 5, 228267: 228267
19 SDHA NM_004168.3(SDHA): c.1951G> A (p.Glu651Lys) single nucleotide variant Uncertain significance rs375396913 GRCh38 Chromosome 5, 256376: 256376
20 SDHA NM_004168.3(SDHA): c.1951G> A (p.Glu651Lys) single nucleotide variant Uncertain significance rs375396913 GRCh37 Chromosome 5, 256491: 256491
21 SDHA NM_004168.3(SDHA): c.830C> T (p.Thr277Met) single nucleotide variant Uncertain significance rs367721665 GRCh37 Chromosome 5, 231050: 231050
22 SDHA NM_004168.3(SDHA): c.830C> T (p.Thr277Met) single nucleotide variant Uncertain significance rs367721665 GRCh38 Chromosome 5, 230935: 230935
23 SDHA NM_004168.3(SDHA): c.133G> A (p.Ala45Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140736646 GRCh38 Chromosome 5, 223551: 223551
24 SDHA NM_004168.3(SDHA): c.133G> A (p.Ala45Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140736646 GRCh37 Chromosome 5, 223666: 223666
25 SDHA NM_004168.3(SDHA): c.1368G> A (p.Ser456=) single nucleotide variant Likely benign rs149875171 GRCh38 Chromosome 5, 236535: 236535
26 SDHA NM_004168.3(SDHA): c.1368G> A (p.Ser456=) single nucleotide variant Likely benign rs149875171 GRCh37 Chromosome 5, 236650: 236650
27 SDHA NM_004168.3(SDHA): c.1886A> T (p.Tyr629Phe) single nucleotide variant Benign/Likely benign rs6960 GRCh38 Chromosome 5, 254484: 254484
28 SDHA NM_004168.3(SDHA): c.1886A> T (p.Tyr629Phe) single nucleotide variant Benign/Likely benign rs6960 GRCh37 Chromosome 5, 254599: 254599
29 SDHA NM_004168.3(SDHA): c.136A> G (p.Lys46Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs144599870 GRCh38 Chromosome 5, 223554: 223554
30 SDHA NM_004168.3(SDHA): c.136A> G (p.Lys46Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs144599870 GRCh37 Chromosome 5, 223669: 223669
31 SDHA NM_004168.3(SDHA): c.17G> A (p.Gly6Asp) single nucleotide variant Benign/Likely benign rs187964306 GRCh38 Chromosome 5, 218372: 218372
32 SDHA NM_004168.3(SDHA): c.17G> A (p.Gly6Asp) single nucleotide variant Benign/Likely benign rs187964306 GRCh37 Chromosome 5, 218487: 218487
33 SDHA NM_004168.3(SDHA): c.822C> T (p.Gly274=) single nucleotide variant Benign/Likely benign rs34771391 GRCh38 Chromosome 5, 230927: 230927
34 SDHA NM_004168.3(SDHA): c.822C> T (p.Gly274=) single nucleotide variant Benign/Likely benign rs34771391 GRCh37 Chromosome 5, 231042: 231042
35 SDHA NM_004168.3(SDHA): c.1305G> T (p.Leu435=) single nucleotide variant Benign/Likely benign rs35964044 GRCh38 Chromosome 5, 236472: 236472
36 SDHA NM_004168.3(SDHA): c.1305G> T (p.Leu435=) single nucleotide variant Benign/Likely benign rs35964044 GRCh37 Chromosome 5, 236587: 236587
37 SDHA NM_004168.3(SDHA): c.1911C> T (p.Val637=) single nucleotide variant Benign/Likely benign rs11557098 GRCh38 Chromosome 5, 256336: 256336
38 SDHA NM_004168.3(SDHA): c.1911C> T (p.Val637=) single nucleotide variant Benign/Likely benign rs11557098 GRCh37 Chromosome 5, 256451: 256451
39 SDHA NM_004168.3(SDHA): c.1413C> T (p.Ile471=) single nucleotide variant Benign/Likely benign rs34779890 GRCh38 Chromosome 5, 236580: 236580
40 SDHA NM_004168.3(SDHA): c.1413C> T (p.Ile471=) single nucleotide variant Benign/Likely benign rs34779890 GRCh37 Chromosome 5, 236695: 236695
41 SDHA NM_004168.3(SDHA): c.113A> T (p.Asp38Val) single nucleotide variant Benign/Likely benign rs34635677 GRCh38 Chromosome 5, 223531: 223531
42 SDHA NM_004168.3(SDHA): c.113A> T (p.Asp38Val) single nucleotide variant Benign/Likely benign rs34635677 GRCh37 Chromosome 5, 223646: 223646
43 SDHA NM_004168.3(SDHA): c.64-3C> T single nucleotide variant Uncertain significance rs772607568 GRCh37 Chromosome 5, 223594: 223594
44 SDHA NM_004168.3(SDHA): c.64-3C> T single nucleotide variant Uncertain significance rs772607568 GRCh38 Chromosome 5, 223479: 223479
45 SDHA NM_004168.3(SDHA): c.106A> G (p.Thr36Ala) single nucleotide variant Uncertain significance rs750500173 GRCh37 Chromosome 5, 223639: 223639
46 SDHA NM_004168.3(SDHA): c.106A> G (p.Thr36Ala) single nucleotide variant Uncertain significance rs750500173 GRCh38 Chromosome 5, 223524: 223524
47 SDHA NM_004168.3(SDHA): c.476C> T (p.Pro159Leu) single nucleotide variant Uncertain significance rs759827541 GRCh37 Chromosome 5, 226017: 226017
48 SDHA NM_004168.3(SDHA): c.476C> T (p.Pro159Leu) single nucleotide variant Uncertain significance rs759827541 GRCh38 Chromosome 5, 225902: 225902
49 SDHA NM_004168.3(SDHA): c.739A> G (p.Ile247Val) single nucleotide variant Uncertain significance rs571292356 GRCh37 Chromosome 5, 228417: 228417
50 SDHA NM_004168.3(SDHA): c.739A> G (p.Ile247Val) single nucleotide variant Uncertain significance rs571292356 GRCh38 Chromosome 5, 228302: 228302

Expression for Paragangliomas 5

Search GEO for disease gene expression data for Paragangliomas 5.

Pathways for Paragangliomas 5

GO Terms for Paragangliomas 5

Sources for Paragangliomas 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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