HYPTRP
MCID: HYP187
MIFTS: 40

Hypertryptophanemia (HYPTRP)

Categories: Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Hypertryptophanemia

MalaCards integrated aliases for Hypertryptophanemia:

Name: Hypertryptophanemia 57 74 20 58 73 71
Hypertryptophanemia, Familial 57 73 6 44
Hyptrp 57 12 73
Familial Hypertryptophanemia 12 15

Characteristics:

Orphanet epidemiological data:

58
hypertryptophanemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

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


HPO:

31
hypertryptophanemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111703
OMIM® 57 600627
SNOMED-CT 67 721838005
MESH via Orphanet 45 C538393
ICD10 via Orphanet 33 E70.8
UMLS via Orphanet 72 C2931837
Orphanet 58 ORPHA2224
UMLS 71 C2931837

Summaries for Hypertryptophanemia

GARD : 20 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, also known as hypertryptophanemia, familial, is related to barbiturate dependence and tic disorder. An important gene associated with Hypertryptophanemia is TDO2 (Tryptophan 2,3-Dioxygenase), and among its related pathways/superpathways are Neuroscience and Circadian rythm related genes. Affiliated tissues include cortex and brain, and related phenotypes are emotional lability and depressivity

Disease Ontology : 12 An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has material basis in homozygous or compound heterozygous mutation in TDO2 on chromosome 4q32.1.

OMIM® : 57 Congenital hypertryptophanemia, which is accompanied by hyperserotonemia, does not appear to have significant clinical consequences (Ferreira et al., 2017). (600627) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Hypertryptophanemia: An autosomal recessive condition characterized by persistent hypertryptophanemia and hyperserotoninemia.

Wikipedia : 74 Hypertryptophanemia, is a rare autosomal recessive metabolic disorder that results in a massive buildup... more...

Related Diseases for Hypertryptophanemia

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

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 barbiturate dependence 10.1 TPH1 SLC6A4
2 tic disorder 10.1 TPH2 SLC6A4
3 brunner syndrome 10.1 TPH1 SLC6A4
4 pathological gambling 10.1 TPH1 SLC6A4
5 oppositional defiant disorder 10.0 TPH2 SLC6A4
6 autoimmune polyendocrine syndrome type 1 10.0 TPH2 TPH1
7 opiate dependence 10.0 TPH1 SLC6A4
8 breast rhabdomyosarcoma 10.0 NES NCAM1
9 somatoform disorder 10.0 TPH1 SLC6A4
10 endogenous depression 9.9 TPH2 TPH1 SLC6A4
11 bipolar i disorder 9.9 TPH2 SLC6A4
12 depression 9.9 TPH2 TPH1 SLC6A4
13 paranoid schizophrenia 9.9 TPH2 TPH1 SLC6A4
14 borderline personality disorder 9.9 TPH2 TPH1 SLC6A4
15 personality disorder 9.9 TPH2 TPH1 SLC6A4
16 mental depression 9.9 TPH2 TPH1 SLC6A4
17 myopia 9.9
18 inherited metabolic disorder 9.9
19 rubella 9.9
20 pseudobulbar affect 9.9
21 panic disorder 9.9 TPH2 TPH1 SLC6A4
22 psychotic disorder 9.9 TPH2 TPH1 SLC6A4
23 obsessive-compulsive disorder 9.9 TPH2 TPH1 SLC6A4
24 lung combined type small cell carcinoma 9.9 NCAM1 GFAP
25 cerebellopontine angle primitive neuroectodermal tumor 9.9 NCAM1 GFAP
26 spinal cord oligodendroglioma 9.9 RBFOX3 GFAP
27 chordoid meningioma 9.9 NCAM1 GFAP
28 olfactory nerve neoplasm 9.9 NCAM1 GFAP
29 cranial nerve malignant neoplasm 9.9 NCAM1 GFAP
30 gangliocytoma 9.9 RBFOX3 GFAP
31 cranial nerve neoplasm 9.9 NCAM1 GFAP
32 occlusion precerebral artery 9.8 RBFOX3 GFAP
33 myxopapillary ependymoma 9.8 NCAM1 GFAP
34 supratentorial primitive neuroectodermal tumor 9.8 NCAM1 GFAP
35 anaplastic ganglioglioma 9.8 NES GFAP
36 ganglioglioma 9.8 NES GFAP
37 central nervous system immature teratoma 9.8 NES GFAP
38 cerebral neuroblastoma 9.8 NES GFAP
39 sudden infant death syndrome 9.8 TPH2 TPH1 SLC6A4
40 perineurioma 9.8 NCAM1 GFAP
41 epilepsy, familial temporal lobe, 8 9.8 RBFOX3 GFAP
42 anxiety 9.8 TPH2 TPH1 SLC6A4
43 central nervous system primitive neuroectodermal neoplasm 9.8 NES GFAP
44 encephalomalacia 9.8 RBFOX3 GFAP
45 mixed glioma 9.8 NES GFAP
46 carotid artery occlusion 9.8 RBFOX3 GFAP
47 optic nerve glioma 9.8 NES GFAP
48 ependymoblastoma 9.8 NES GFAP
49 medulloepithelioma 9.8 NES GFAP
50 focal cortical dysplasia, type ii 9.8 RBFOX3 GFAP

Graphical network of the top 20 diseases related to Hypertryptophanemia:



Diseases related to Hypertryptophanemia

Symptoms & Phenotypes for Hypertryptophanemia

Human phenotypes related to Hypertryptophanemia:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 emotional lability 31 HP:0000712
2 depressivity 31 HP:0000716
3 global developmental delay 31 HP:0001263
4 hypertelorism 31 HP:0000316
5 pes planus 31 HP:0001763
6 sensorineural hearing impairment 31 HP:0000407
7 visual impairment 31 HP:0000505
8 strabismus 31 HP:0000486
9 myopia 31 HP:0000545
10 intellectual disability, moderate 31 HP:0002342
11 adducted thumb 31 HP:0001181
12 camptodactyly of finger 31 HP:0100490
13 aggressive behavior 31 HP:0000718
14 hypersexuality 31 HP:0030214
15 generalized joint laxity 31 HP:0002761
16 limited elbow extension 31 HP:0001377
17 stuttering 31 HP:0025268
18 tryptophanuria 31 HP:0003361
19 hypertryptophanemia 31 HP:0500134

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Laboratory Abnormalities:
hypertryptophanemia
hyperserotonemia
normal to high urinary 5-hydroxyindoleacetic acid (5-hiaa) levels
normal plasma melatonin level

Clinical features from OMIM®:

600627 (Updated 05-Mar-2021)

Drugs & Therapeutics for Hypertryptophanemia

Search Clinical Trials , NIH Clinical Center for Hypertryptophanemia

Cochrane evidence based reviews: hypertryptophanemia, familial

Genetic Tests for Hypertryptophanemia

Anatomical Context for Hypertryptophanemia

MalaCards organs/tissues related to Hypertryptophanemia:

40
Cortex, Brain

Publications for Hypertryptophanemia

Articles related to Hypertryptophanemia:

# Title Authors PMID Year
1
Hypertryptophanemia due to tryptophan 2,3-dioxygenase deficiency. 6 57 61
28285122 2017
2
Familial hypertryptophanemia in two siblings. 57 61
7628119 1995
3
Familial hypertryptophanemia, tryptophanuria and indoleketonuria. 57 61
6883719 1983
4
Hypertryptophanemia and indoleketonuria in two mentally subnormal siblings. 61 57
7133092 1982
5
Creatine and pyruvate prevent behavioral and oxidative stress alterations caused by hypertryptophanemia in rats. 61
22081291 2012
6
Tryptophan administration induces oxidative stress in brain cortex of rats. 61
18425567 2008
7
Promotion of oxidative stress by L-tryptophan in cerebral cortex of rats. 61
16497412 2006
8
Tryptophan reduces creatine kinase activity in the brain cortex of rats. 61
15036384 2004
9
Alanine prevents the inhibition of pyruvate kinase activity caused by tryptophan in cerebral cortex of rats. 61
12822831 2003

Variations for Hypertryptophanemia

ClinVar genetic disease variations for Hypertryptophanemia:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TDO2 NM_005651.4(TDO2):c.324G>C (p.Met108Ile) SNV Pathogenic 440855 rs1553957997 4:156830059-156830059 4:155908907-155908907
2 TDO2 NM_005651.4(TDO2):c.491dup (p.Ile165fs) Duplication Pathogenic 440854 rs767123432 4:156831234-156831235 4:155910082-155910083

UniProtKB/Swiss-Prot genetic disease variations for Hypertryptophanemia:

73
# Symbol AA change Variation ID SNP ID
1 TDO2 p.Met108Ile VAR_080251 rs155395799

Expression for Hypertryptophanemia

Search GEO for disease gene expression data for Hypertryptophanemia.

Pathways for Hypertryptophanemia

Pathways related to Hypertryptophanemia according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1 12.09 TPH2 TPH1 RBFOX3 NCAM1 GFAP
3
Show member pathways
11.92 TDO2 QPRT AFMID
4
Show member pathways
11.86 TDO2 QPRT AFMID
5 11.82 TPH2 TPH1 SLC6A4
6 11.64 TPH2 TPH1 SLC6A4
7 11.44 NES NCAM1 GFAP
8
Show member pathways
11.22 TPH2 TPH1 TDO2 AFMID
9
Show member pathways
11.14 TPH2 TPH1
10
Show member pathways
11.13 TPH2 TDO2 SLC6A4
11
Show member pathways
10.97 TPH2 TPH1
12
Show member pathways
10.95 TPH2 TPH1 TDO2 QPRT AFMID
13 10.88 TPH2 TPH1 SLC6A4
14
Show member pathways
10.84 TPH2 SLC6A4

GO Terms for Hypertryptophanemia

Cellular components related to Hypertryptophanemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament cytoskeleton GO:0045111 8.96 NES GFAP
2 neuron projection GO:0043005 8.92 TPH2 TPH1 SLC6A4 NCAM1

Biological processes related to Hypertryptophanemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 circadian rhythm GO:0007623 9.43 TPH2 TPH1 SLC6A4
2 NAD biosynthetic process GO:0009435 9.4 QPRT AFMID
3 tryptophan catabolic process GO:0006569 9.37 TDO2 AFMID
4 aromatic amino acid family metabolic process GO:0009072 9.32 TPH2 TPH1
5 indolalkylamine biosynthetic process GO:0046219 9.16 TPH2 TPH1
6 tryptophan catabolic process to kynurenine GO:0019441 8.96 TDO2 AFMID
7 serotonin biosynthetic process GO:0042427 8.62 TPH2 TPH1

Molecular functions related to Hypertryptophanemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.55 TDO2 SLC6A4 QPRT NCAM1 GFAP
2 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen GO:0016714 8.96 TPH2 TPH1
3 tryptophan 5-monooxygenase activity GO:0004510 8.62 TPH2 TPH1

Sources for Hypertryptophanemia

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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