MCID: HYP187
MIFTS: 21

Hypertryptophanemia

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Hypertryptophanemia

MalaCards integrated aliases for Hypertryptophanemia:

Name: Hypertryptophanemia 57 76 53 59 75 73
Hypertryptophanemia, Familial 57 75 6
Hyptrp 57 75

Characteristics:

Orphanet epidemiological data:

59
hypertryptophanemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
hypertryptophanemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 600627
Orphanet 59 ORPHA2224
MESH via Orphanet 45 C538393
UMLS via Orphanet 74 C2931837
ICD10 via Orphanet 34 E70.8
MeSH 44 D000592
UMLS 73 C2931837

Summaries for Hypertryptophanemia

NIH Rare Diseases : 53 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 sensorineural hearing impairment

OMIM : 57 Congenital hypertryptophanemia, which is accompanied by hyperserotonemia, does not appear to have significant clinical consequences (Ferreira et al., 2017). (600627)

UniProtKB/Swiss-Prot : 75 Hypertryptophanemia: An autosomal recessive condition characterized by persistent hypertryptophanemia and hyperserotoninemia.

Wikipedia : 76 Hypertryptophanemia, also called familial hypertryptophanemia, is a rare autosomal recessivemetabolic... more...

Related Diseases for Hypertryptophanemia

Symptoms & Phenotypes for Hypertryptophanemia

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
hypertryptophanemia
hyperserotonemia
normal to high urinary 5-hydroxyindoleacetic acid (5-hiaa) levels
normal plasma melatonin level


Clinical features from OMIM:

600627

Human phenotypes related to Hypertryptophanemia:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 sensorineural hearing impairment 32 HP:0000407
3 strabismus 32 HP:0000486
4 visual impairment 32 HP:0000505
5 myopia 32 HP:0000545
6 emotional lability 32 HP:0000712
7 depressivity 32 HP:0000716
8 aggressive behavior 32 HP:0000718
9 adducted thumb 32 HP:0001181
10 global developmental delay 32 HP:0001263
11 limited elbow extension 32 HP:0001377
12 pes planus 32 HP:0001763
13 intellectual disability, moderate 32 HP:0002342
14 generalized joint laxity 32 HP:0002761
15 tryptophanuria 32 HP:0003361
16 stuttering 32 HP:0025268
17 hypersexuality 32 HP:0030214
18 camptodactyly of finger 32 HP:0100490

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:

75
# 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 GRCh38 Chromosome 4, 155908907: 155908907
4 TDO2 NM_005651.3(TDO2): c.324G> C (p.Met108Ile) single nucleotide variant Pathogenic 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 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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