HYPTRP
MCID: HYP187
MIFTS: 41

Hypertryptophanemia (HYPTRP)

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

Aliases & Classifications for Hypertryptophanemia

MalaCards integrated aliases for Hypertryptophanemia:

Name: Hypertryptophanemia 56 74 52 58 73 71
Hypertryptophanemia, Familial 56 73 6 43
Hyptrp 56 12 73
Familial Hypertryptophanemia 12 15

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 56 600627
SNOMED-CT 67 721838005
MESH via Orphanet 44 C538393
ICD10 via Orphanet 33 E70.8
UMLS via Orphanet 72 C2931837
Orphanet 58 ORPHA2224
UMLS 71 C2931837

Summaries for Hypertryptophanemia

NIH Rare Diseases : 52 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 joint laxity, short stature, and myopia and myopia. An important gene associated with Hypertryptophanemia is TDO2 (Tryptophan 2,3-Dioxygenase), and among its related pathways/superpathways are Neuroscience and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Affiliated tissues include cortex and brain, and related phenotypes are global developmental delay and hypertelorism

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

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 57)
# Related Disease Score Top Affiliating Genes
1 joint laxity, short stature, and myopia 10.2
2 myopia 10.2
3 allergic hypersensitivity disease 10.2
4 inherited metabolic disorder 10.2
5 rubella 10.2
6 pseudobulbar affect 10.2
7 avoidant personality disorder 10.2 TPH1 SLC6A4
8 retrograde amnesia 10.1 TNFRSF10C SLC6A4
9 paranoid schizophrenia 10.1 TPH2 TPH1 SLC6A4
10 borderline personality disorder 10.1 TPH2 TPH1 SLC6A4
11 personality disorder 10.1 TPH2 TPH1 SLC6A4
12 mental depression 10.1 TPH2 TPH1 SLC6A4
13 depression 10.1 TPH2 TPH1 SLC6A4
14 barbiturate dependence 10.1 TPH1 TNFRSF10C SLC6A4
15 brunner syndrome 10.0 TPH1 SLC6A4
16 anaplastic ganglioglioma 9.9 NES GFAP
17 central nervous system immature teratoma 9.9 NES GFAP
18 spinal cord oligodendroglioma 9.9 RBFOX3 GFAP
19 clear cell ependymoma 9.9 RBFOX3 GFAP
20 lung combined type small cell carcinoma 9.9 NCAM1 GFAP
21 cerebellopontine angle primitive neuroectodermal tumor 9.9 NCAM1 GFAP
22 gangliocytoma 9.9 RBFOX3 GFAP
23 chordoid meningioma 9.9 NCAM1 GFAP
24 olfactory nerve neoplasm 9.9 NCAM1 GFAP
25 cranial nerve malignant neoplasm 9.9 NCAM1 GFAP
26 central nervous system primitive neuroectodermal neoplasm 9.9 NES GFAP
27 mixed glioma 9.8 NES GFAP
28 ependymoblastoma 9.8 NES GFAP
29 cranial nerve neoplasm 9.8 NCAM1 GFAP
30 optic nerve glioma 9.8 NES GFAP
31 occlusion precerebral artery 9.8 RBFOX3 GFAP
32 supratentorial primitive neuroectodermal tumor 9.8 NCAM1 GFAP
33 astroblastoma 9.7 NES GFAP
34 attention deficit-hyperactivity disorder 9.7 TPH2 TPH1 TDO2 SLC6A4 PRKG1
35 x-linked recessive disease 9.7 RBFOX3 PRKG1 GFAP
36 pick disease of brain 9.7 RBFOX3 GFAP ATP7A
37 myxopapillary ependymoma 9.7 NCAM1 GFAP
38 mood disorder 9.7 TPH2 TPH1 SLC6A4 GFAP
39 medulloepithelioma 9.7 NES GFAP
40 cerebrum cancer 9.6 RBFOX3 NES GFAP
41 cerebral ventricle cancer 9.6 RBFOX3 NES GFAP
42 supratentorial cancer 9.6 RBFOX3 NES GFAP
43 dysembryoplastic neuroepithelial tumor 9.6 RBFOX3 NES GFAP
44 central neurocytoma 9.6 RBFOX3 NES GFAP
45 ectodermal dysplasia 1, hypohidrotic, x-linked 9.6 RBFOX3 NES GFAP
46 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.6 RBFOX3 NES GFAP
47 subependymoma 9.6 NES NCAM1 GFAP
48 cerebral degeneration 9.6 RBFOX3 NES GFAP
49 subependymal giant cell astrocytoma 9.5 NES NCAM1 GFAP
50 perineurioma 9.5 NCAM1 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 global developmental delay 31 HP:0001263
2 hypertelorism 31 HP:0000316
3 pes planus 31 HP:0001763
4 sensorineural hearing impairment 31 HP:0000407
5 visual impairment 31 HP:0000505
6 strabismus 31 HP:0000486
7 myopia 31 HP:0000545
8 depressivity 31 HP:0000716
9 intellectual disability, moderate 31 HP:0002342
10 adducted thumb 31 HP:0001181
11 camptodactyly of finger 31 HP:0100490
12 emotional lability 31 HP:0000712
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:

56
Laboratory Abnormalities:
hypertryptophanemia
hyperserotonemia
normal to high urinary 5-hydroxyindoleacetic acid (5-hiaa) levels
normal plasma melatonin level

Clinical features from OMIM:

600627

MGI Mouse Phenotypes related to Hypertryptophanemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.36 AFMID ATP7A CAT CYP27A1 GFAP PRKG1

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. 56 6 61
28285122 2017
2
Familial hypertryptophanemia in two siblings. 61 56
7628119 1995
3
Familial hypertryptophanemia, tryptophanuria and indoleketonuria. 61 56
6883719 1983
4
Hypertryptophanemia and indoleketonuria in two mentally subnormal siblings. 61 56
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.491dup (p.Ile165fs)duplication Pathogenic 440854 rs767123432 4:156831234-156831235 4:155910082-155910083
2 TDO2 NM_005651.4(TDO2):c.324G>C (p.Met108Ile)SNV Pathogenic 440855 rs1553957997 4:156830059-156830059 4:155908907-155908907

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

GO Terms for Hypertryptophanemia

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

# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.02 TPH2 TPH1 SLC6A4 NCAM1 ATP7A

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.88 TPH2 TPH1 TDO2 CYP27A1 CAT
2 circadian rhythm GO:0007623 9.58 TPH2 TPH1 SLC6A4
3 response to lead ion GO:0010288 9.46 CAT ATP7A
4 NAD biosynthetic process GO:0009435 9.43 QPRT AFMID
5 tryptophan catabolic process GO:0006569 9.37 TDO2 AFMID
6 aromatic amino acid family metabolic process GO:0009072 9.32 TPH2 TPH1
7 indolalkylamine biosynthetic process GO:0046219 9.26 TPH2 TPH1
8 tryptophan catabolic process to kynurenine GO:0019441 9.16 TDO2 AFMID
9 serotonin biosynthetic process GO:0042427 8.96 TPH2 TPH1
10 tryptophan metabolic process GO:0006568 8.62 TDO2 ATP7A

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.65 TPH2 TPH1 TDO2 CYP27A1 CAT
2 heme binding GO:0020037 9.54 TDO2 CYP27A1 CAT
3 iron ion binding GO:0005506 9.5 TPH2 TPH1 CYP27A1
4 monooxygenase activity GO:0004497 9.33 TPH2 TPH1 CYP27A1
5 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
6 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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