MCID: HRD193
MIFTS: 12

Hereditary Alpha Tryptasemia Syndrome

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Hereditary Alpha Tryptasemia Syndrome

MalaCards integrated aliases for Hereditary Alpha Tryptasemia Syndrome:

Name: Hereditary Alpha Tryptasemia Syndrome 12 20 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0080714

Summaries for Hereditary Alpha Tryptasemia Syndrome

GARD : 20 Hereditary alpha tryptasemia syndrome is a condition characterized by high blood tryptase levels, and by several symptoms associated with multiple organ systems. These symptoms may include allergic-like symptoms (skin itching, flushing, hives, or anaphylaxis); gastrointestinal symptoms such as bloating, abdominal pain, diarrhea and/or constipation (often diagnosed as irritable bowel syndrome), heartburn, reflux, and difficulty swallowing; connective tissue symptoms such as hypermobile joints and scoliosis (often diagnosed as Ehlers-Danlos syndrome, hypermobile type ); heart symptoms such as a racing or pounding heartbeat or blood pressure swings sometimes with fainting (frequently diagnosed as postural orthostatic tachycardia syndrome (POTS) ; as well as behavioral problems. The term " hereditary alpha tryptasemia" refers to the trait of having inherited extra copies of the alpha tryptase gene ( TPSAB1 ), which leads to increased blood levels of trypase. Tryptase is a protein made primarily by mast cells (cells that contribute to allergic responses). When people with hereditary alpha tryptasemia have symptoms the conditions is known as "hereditary alpha tryptasemia syndrome". People who have few or no symptoms are said to have the trait, and not the syndrome. Treatment is aimed at addressing the specific symptoms and may include anti-allergy medications. Please visit the National Institute of Allergy and Infectious Diseases to learn more: Hereditary Alpha Tryptasemia and Hereditary Alpha Tryptasemia Syndrome FAQ

MalaCards based summary : Hereditary Alpha Tryptasemia Syndrome An important gene associated with Hereditary Alpha Tryptasemia Syndrome is TPSG1 (Tryptase Gamma 1). Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Disease Ontology : 12 A syndrome that has material basis in inherited extra copies of the alpha tryptase gene and that is characterized by high blood tryptase levels.

Related Diseases for Hereditary Alpha Tryptasemia Syndrome

Symptoms & Phenotypes for Hereditary Alpha Tryptasemia Syndrome

GenomeRNAi Phenotypes related to Hereditary Alpha Tryptasemia Syndrome according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.5 TPSD1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.5 TPSG1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.5 TPSD1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.5 TPSD1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.5 TPSD1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.5 TPSG1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.5 TPSG1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.5 TPSG1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.5 TPSD1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.5 TPSG1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.5 TPSG1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-38 9.5 TPSG1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.5 TPSG1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.5 TPSD1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.5 TPSD1

MGI Mouse Phenotypes related to Hereditary Alpha Tryptasemia Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 8.92 AP3B1 CACNA1H OGA TPSG1

Drugs & Therapeutics for Hereditary Alpha Tryptasemia Syndrome

Search Clinical Trials , NIH Clinical Center for Hereditary Alpha Tryptasemia Syndrome

Genetic Tests for Hereditary Alpha Tryptasemia Syndrome

Anatomical Context for Hereditary Alpha Tryptasemia Syndrome

Publications for Hereditary Alpha Tryptasemia Syndrome

Articles related to Hereditary Alpha Tryptasemia Syndrome:

# Title Authors PMID Year
1
Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number. 20
27749843 2016

Variations for Hereditary Alpha Tryptasemia Syndrome

Expression for Hereditary Alpha Tryptasemia Syndrome

Search GEO for disease gene expression data for Hereditary Alpha Tryptasemia Syndrome.

Pathways for Hereditary Alpha Tryptasemia Syndrome

GO Terms for Hereditary Alpha Tryptasemia Syndrome

Biological processes related to Hereditary Alpha Tryptasemia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 8.8 TPSG1 TPSD1 TPSAB1

Molecular functions related to Hereditary Alpha Tryptasemia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.56 TPSG1 TPSD1 TPSAB1 OGA
2 peptidase activity GO:0008233 9.33 TPSG1 TPSD1 TPSAB1
3 serine-type endopeptidase activity GO:0004252 9.13 TPSG1 TPSD1 TPSAB1
4 serine-type peptidase activity GO:0008236 8.8 TPSG1 TPSD1 TPSAB1

Sources for Hereditary Alpha Tryptasemia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....