TREHD
MCID: TRH001
MIFTS: 22

Trehalase Deficiency (TREHD)

Categories: Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Trehalase Deficiency

MalaCards integrated aliases for Trehalase Deficiency:

Name: Trehalase Deficiency 58 54 60 76 38 13
Trehalose Intolerance 58 54 76
Alpha, Alpha-Trehalase Deficiency 74
Isolated Trehalose Intolerance 60
Trehalase 13
Trehd 76

Characteristics:

Orphanet epidemiological data:

60
trehalase deficiency
Inheritance: Autosomal dominant; Prevalence: >1/1000 (Greenland);

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
trehalase activity is decreased in patients with untreated celiac disease, and recovers to normal on a gluten-free diet
trehalase activity correlates with duodenal histology, with statistically significant lower values in partial and total villous atrophy compared to normal histology


HPO:

33
trehalase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 612119
KEGG 38 H02090
ICD10 via Orphanet 35 E74.3
UMLS via Orphanet 75 C0268187
Orphanet 60 ORPHA103909
MedGen 43 C0268187
UMLS 74 C0268187

Summaries for Trehalase Deficiency

NIH Rare Diseases : 54 Trehalase deficiency is a metabolic condition in which the body lacks an enzyme called trehalase and is not able to convert trehalose, a disaccharide (sugar composed of two monosaccharides) into glucose (sugar composed of one monosaccharide). Trehalose is found naturally in mushrooms, algae and insects. Trehalose may additionally be found in manufactured food products, medications, and cosmetics. For trehalose to be digested and absorbed by the digestive system, it must be broken down into glucose. Individuals with this deficiency are therefore unable to breakdown and absorb trehalose. This may lead to vomiting, abdominal discomfort and diarrhea after eating foods containing trehalose. Trehalase deficiency is caused by mutations in the TREH gene. Both autosomal recessive and autosomal dominant inheritance patterns have been described in the medical literature. Treatment involves avoidance or restriction of products that contain trehalose.

MalaCards based summary : Trehalase Deficiency, also known as trehalose intolerance, is related to candida glabrata and diabetes mellitus, and has symptoms including diarrhea An important gene associated with Trehalase Deficiency is TREH (Trehalase), and among its related pathways/superpathways is Starch and sucrose metabolism. Affiliated tissues include colon, and related phenotypes are abdominal pain and diarrhea

OMIM : 58 Trehalose is a disaccharide found in mushrooms, algae, and insect hemolymph; mushrooms and products containing baker's yeast are thus the only sources of trehalose in the human diet. The high concentration of trehalose in cryptobiotic plants is responsible for their remarkable ability to go through cycles of desiccation and rehydration without injury. This led to interest by the food industry in the addition of trehalose to foodstuffs to improve the longevity and quality of dried food. However, ingestion of a disaccharide in an individual who cannot digest it results in osmotic diarrhea, abdominal pain, and increased rectal flatulence (summary by Murray et al., 2000). Isolated trehalose intolerance due to deficiency of trehalase (TREH; 275360) is probably rare in adult white Americans (Welsh et al., 1978), but has been estimated at 8% in Greenlanders (Gudmand-Hoyer et al., 1988). (612119)

UniProtKB/Swiss-Prot : 76 Trehalase deficiency: An autosomal recessive condition characterized by the inability to digest trehalose, a disaccharide found in mushrooms, products containing baker's yeast, and dried food. Individuals with trehalase deficiency suffer from abdominal pain, increased rectal flatulence, and diarrhea due to osmotic water flow into the colon.

Related Diseases for Trehalase Deficiency

Diseases related to Trehalase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 candida glabrata 10.3
2 diabetes mellitus 10.0
3 glomerulonephritis 10.0
4 nephrotic syndrome 10.0
5 intestinal volvulus 10.0
6 congenital nephrotic syndrome finnish type 10.0

Graphical network of the top 20 diseases related to Trehalase Deficiency:



Diseases related to Trehalase Deficiency

Symptoms & Phenotypes for Trehalase Deficiency

Human phenotypes related to Trehalase Deficiency:

33
# Description HPO Frequency HPO Source Accession
1 abdominal pain 33 HP:0002027
2 diarrhea 33 HP:0002014

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
abdominal pain
increased flatulence
osmotic diarrhea

Clinical features from OMIM:

612119

UMLS symptoms related to Trehalase Deficiency:


diarrhea

Drugs & Therapeutics for Trehalase Deficiency

Search Clinical Trials , NIH Clinical Center for Trehalase Deficiency

Genetic Tests for Trehalase Deficiency

Anatomical Context for Trehalase Deficiency

MalaCards organs/tissues related to Trehalase Deficiency:

42
Colon

Publications for Trehalase Deficiency

Articles related to Trehalase Deficiency:

# Title Authors Year
1
Trehalase deficiency in Greenland. ( 3227291 )
1988
2
Trehalase deficiency. Prevalence and relation to single-cell protein food. ( 7137952 )
1982
3
Trehalase deficiency in a family. ( 4737205 )
1973

Variations for Trehalase Deficiency

ClinVar genetic disease variations for Trehalase Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TREH NM_007180.2(TREH): c.90-9_106del deletion Pathogenic rs527655595 GRCh37 Chromosome 11, 118534132: 118534157
2 TREH NM_007180.2(TREH): c.90-9_106del deletion Pathogenic rs527655595 GRCh38 Chromosome 11, 118663423: 118663448

Expression for Trehalase Deficiency

Search GEO for disease gene expression data for Trehalase Deficiency.

Pathways for Trehalase Deficiency

Pathways related to Trehalase Deficiency according to KEGG:

38
# Name Kegg Source Accession
1 Starch and sucrose metabolism hsa00500

GO Terms for Trehalase Deficiency

Sources for Trehalase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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