MCID: TRY006
MIFTS: 11

Tryptophanuria with Dwarfism

Categories: Rare diseases

Aliases & Classifications for Tryptophanuria with Dwarfism

MalaCards integrated aliases for Tryptophanuria with Dwarfism:

Name: Tryptophanuria with Dwarfism 56 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
tryptophanuria with dwarfism:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Tryptophanuria with Dwarfism

MalaCards based summary : Tryptophanuria with Dwarfism is related to aminoaciduria and dwarfism. Related phenotypes are intellectual disability and gait disturbance

More information from OMIM: 276100

Related Diseases for Tryptophanuria with Dwarfism

Diseases related to Tryptophanuria with Dwarfism via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aminoaciduria 10.3
2 dwarfism 10.3

Symptoms & Phenotypes for Tryptophanuria with Dwarfism

Human phenotypes related to Tryptophanuria with Dwarfism:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 gait disturbance 31 HP:0001288
3 ataxia 31 HP:0001251
4 cutaneous photosensitivity 31 HP:0000992
5 conjunctival telangiectasia 31 HP:0000524
6 severe short stature 31 HP:0003510
7 tryptophanuria 31 HP:0003361

Symptoms via clinical synopsis from OMIM:

56
Neuro:
gait disturbance
ataxia
mental retardation

Eyes:
conjunctival telangiectasia

Growth:
dwarfism

Skin:
cutaneous photosensitivity

Lab:
tryptophanuria
no excess indican or indole acetic acid excretion
tryptophane to kynurenine conversion defect

Clinical features from OMIM:

276100

Drugs & Therapeutics for Tryptophanuria with Dwarfism

Search Clinical Trials , NIH Clinical Center for Tryptophanuria with Dwarfism

Genetic Tests for Tryptophanuria with Dwarfism

Anatomical Context for Tryptophanuria with Dwarfism

Publications for Tryptophanuria with Dwarfism

Articles related to Tryptophanuria with Dwarfism:

# Title Authors PMID Year
1
CONGENITAL TRYPTOPHANURIA WITH DWARFISM ("H" DISEASE-LIKE CLINICAL FEATURES WITHOUT INDICANURIA AND GENERALIZED AMINOACIDURIA):--A PROBABLY NEW INBORN ERROR OF TRYPTOPHAN METABOLISM. 61 56
14055140 1963

Variations for Tryptophanuria with Dwarfism

Expression for Tryptophanuria with Dwarfism

Search GEO for disease gene expression data for Tryptophanuria with Dwarfism.

Pathways for Tryptophanuria with Dwarfism

GO Terms for Tryptophanuria with Dwarfism

Sources for Tryptophanuria with Dwarfism

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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