HYPTRP
MCID: HYP187
MIFTS: 19

Hypertryptophanemia (HYPTRP)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Hypertryptophanemia

MalaCards integrated aliases for Hypertryptophanemia:

Name: Hypertryptophanemia 58 77 54 60 76 74
Hypertryptophanemia, Familial 58 76 6
Hyptrp 58 76

Characteristics:

Orphanet epidemiological data:

60
hypertryptophanemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 patient (last curated september 2017)


HPO:

33
hypertryptophanemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


External Ids:

OMIM 58 600627
MeSH 45 D000592
MESH via Orphanet 46 C538393
ICD10 via Orphanet 35 E70.8
UMLS via Orphanet 75 C2931837
Orphanet 60 ORPHA2224
UMLS 74 C2931837

Summaries for Hypertryptophanemia

NIH Rare Diseases : 54 Hypertryptophanemia is a rare condition that likely occurs due to abnormalities in the body's ability to process the amino acid (a building block of proteins), tryptophan. People affected by this condition may experience intellectual disability and behavioral problems (i.e. periodic mood swings, exaggerated emotional responses and abnormal sexual behavior). The underlying genetic cause of hypertryptophanemia is currently unknown; however, it appears to be inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Hypertryptophanemia, is also known as hypertryptophanemia, familial. An important gene associated with Hypertryptophanemia is TDO2 (Tryptophan 2,3-Dioxygenase). Related phenotypes are hypertelorism and emotional lability

OMIM : 58 Congenital hypertryptophanemia, which is accompanied by hyperserotonemia, does not appear to have significant clinical consequences (Ferreira et al., 2017). (600627)

UniProtKB/Swiss-Prot : 76 Hypertryptophanemia: An autosomal recessive condition characterized by persistent hypertryptophanemia and hyperserotoninemia.

Wikipedia : 77 Hypertryptophanemia, is a rare autosomal recessivemetabolic disorder that results in a massive buildup... more...

Related Diseases for Hypertryptophanemia

Symptoms & Phenotypes for Hypertryptophanemia

Human phenotypes related to Hypertryptophanemia:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 emotional lability 33 HP:0000712
3 depressivity 33 HP:0000716
4 global developmental delay 33 HP:0001263
5 pes planus 33 HP:0001763
6 sensorineural hearing impairment 33 HP:0000407
7 visual impairment 33 HP:0000505
8 strabismus 33 HP:0000486
9 myopia 33 HP:0000545
10 intellectual disability, moderate 33 HP:0002342
11 aggressive behavior 33 HP:0000718
12 hypersexuality 33 HP:0030214
13 adducted thumb 33 HP:0001181
14 camptodactyly of finger 33 HP:0100490
15 limited elbow extension 33 HP:0001377
16 generalized joint laxity 33 HP:0002761
17 stuttering 33 HP:0025268
18 tryptophanuria 33 HP:0003361
19 hypertryptophanemia 33 HP:0500134

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
hypertryptophanemia
hyperserotonemia
normal to high urinary 5-hydroxyindoleacetic acid (5-hiaa) levels
normal plasma melatonin level

Clinical features from OMIM:

600627

Drugs & Therapeutics for Hypertryptophanemia

Search Clinical Trials , NIH Clinical Center for Hypertryptophanemia

Genetic Tests for Hypertryptophanemia

Anatomical Context for Hypertryptophanemia

Publications for Hypertryptophanemia

Articles related to Hypertryptophanemia:

# Title Authors Year
1
Hypertryptophanemia due to tryptophan 2,3-dioxygenase deficiency. ( 28285122 )
2017
2
Creatine and pyruvate prevent behavioral and oxidative stress alterations caused by hypertryptophanemia in rats. ( 22081291 )
2012
3
Familial hypertryptophanemia in two siblings. ( 7628119 )
1995
4
Familial hypertryptophanemia, tryptophanuria and indoleketonuria. ( 6883719 )
1983
5
Hypertryptophanemia and indoleketonuria in two mentally subnormal siblings. ( 7133092 )
1982

Variations for Hypertryptophanemia

UniProtKB/Swiss-Prot genetic disease variations for Hypertryptophanemia:

76
# Symbol AA change Variation ID SNP ID
1 TDO2 p.Met108Ile VAR_080251

ClinVar genetic disease variations for Hypertryptophanemia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TDO2 NM_005651.3(TDO2): c.491dup (p.Ile165Aspfs) duplication Pathogenic rs767123432 GRCh38 Chromosome 4, 155910084: 155910084
2 TDO2 NM_005651.3(TDO2): c.491dup (p.Ile165Aspfs) duplication Pathogenic rs767123432 GRCh37 Chromosome 4, 156831236: 156831236
3 TDO2 NM_005651.3(TDO2): c.324G> C (p.Met108Ile) single nucleotide variant Pathogenic rs1553957997 GRCh38 Chromosome 4, 155908907: 155908907
4 TDO2 NM_005651.3(TDO2): c.324G> C (p.Met108Ile) single nucleotide variant Pathogenic rs1553957997 GRCh37 Chromosome 4, 156830059: 156830059

Expression for Hypertryptophanemia

Search GEO for disease gene expression data for Hypertryptophanemia.

Pathways for Hypertryptophanemia

GO Terms for Hypertryptophanemia

Sources for Hypertryptophanemia

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
Content
Loading form....