MCID: SDH002
MIFTS: 8

Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases, Endocrine diseases

Aliases & Classifications for Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

MalaCards integrated aliases for Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome:

Name: Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 24
Paragangliomas 5 24 69

Classifications:



Summaries for Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

MalaCards based summary : Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome, also known as paragangliomas 5, is related to paragangliomas 5 and hepatitis. An important gene associated with Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome is SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A).

Related Diseases for Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

Diseases in the Hereditary Paraganglioma-Pheochromocytoma Syndromes family:

Max-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

Diseases related to Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 paragangliomas 5 12.3
2 hepatitis 9.6
3 paraganglioma 9.6

Symptoms & Phenotypes for Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

Drugs & Therapeutics for Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

Search Clinical Trials , NIH Clinical Center for Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

Genetic Tests for Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

Genetic tests related to Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome:

id Genetic test Affiliating Genes
1 Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 24 SDHA

Anatomical Context for Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

Publications for Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

Variations for Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

ClinVar genetic disease variations for Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SDHA NM_004168.3(SDHA): c.1765C> T (p.Arg589Trp) single nucleotide variant Pathogenic rs387906780 GRCh37 Chromosome 5, 251554: 251554
2 SDHA NM_004168.3(SDHA): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic/Likely pathogenic rs142441643 GRCh37 Chromosome 5, 223624: 223624
3 SDHA NM_004168.3(SDHA): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs781764920 GRCh37 Chromosome 5, 224547: 224547
4 SDHA NM_004168.3(SDHA): c.1663+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs766667009 GRCh37 Chromosome 5, 251219: 251219
5 SDHA NM_004168.3(SDHA): c.1054C> T (p.Arg352Ter) single nucleotide variant Pathogenic rs746165168 GRCh38 Chromosome 5, 233635: 233635
6 SDHA NM_004168.3(SDHA): c.1534C> T (p.Arg512Ter) single nucleotide variant Pathogenic/Likely pathogenic rs748089700 GRCh37 Chromosome 5, 240574: 240574
7 SDHA NM_004168.3(SDHA): c.1615dupA (p.Ile539Asnfs) duplication Pathogenic GRCh38 Chromosome 5, 251055: 251055
8 SDHA NM_004168.3(SDHA): c.985C> T (p.Arg329Ter) single nucleotide variant Pathogenic rs771328239 GRCh38 Chromosome 5, 233566: 233566

Expression for Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

Search GEO for disease gene expression data for Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome.

Pathways for Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

GO Terms for Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

Sources for Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

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
Content
Loading form....