Tryptophanuria with Dwarfism disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 276100

MedGen ⁴¹ C0268473

SNOMED-CT via HPO ⁶⁸ 18789002 22325002 228156007 more

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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

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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

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Symptoms & Phenotypes for Tryptophanuria with Dwarfism

Human phenotypes related to Tryptophanuria with Dwarfism:

³¹ (show all 7)

#	Description	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

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Drugs & Therapeutics for Tryptophanuria with Dwarfism

Search Clinical Trials , NIH Clinical Center for Tryptophanuria with Dwarfism

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Genetic Tests for Tryptophanuria with Dwarfism

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Anatomical Context for Tryptophanuria with Dwarfism

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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	TADA K...ARAKAWA T	14055140	1963

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Genes for Tryptophanuria with Dwarfism

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Variations for Tryptophanuria with Dwarfism

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Expression for Tryptophanuria with Dwarfism

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

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Pathways for Tryptophanuria with Dwarfism

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GO Terms for Tryptophanuria with Dwarfism

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Sources for Tryptophanuria with Dwarfism

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