Xylosidase Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Xylosidase Deficiency

MalaCards integrated aliases for Xylosidase Deficiency:

Name: Xylosidase Deficiency ⁵⁶ ⁷¹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

HPO:

³¹

xylosidase deficiency:
Inheritance autosomal recessive inheritance

External Ids:

OMIM ⁵⁶ 278900

MedGen ⁴¹ C1848407

SNOMED-CT via HPO ⁶⁸ 103276001 128613002 15188001 more

UMLS ⁷¹ C1848407

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Summaries for Xylosidase Deficiency

MalaCards based summary : Xylosidase Deficiency Related phenotypes are hearing impairment and muscular hypotonia

More information from OMIM: 278900

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Related Diseases for Xylosidase Deficiency

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Symptoms & Phenotypes for Xylosidase Deficiency

Human phenotypes related to Xylosidase Deficiency:

³¹ (show all 10)

#	Description	HPO Source Accession
1	hearing impairment ³¹	HP:0000365
2	muscular hypotonia ³¹	HP:0001252
3	microcephaly ³¹	HP:0000252
4	blindness ³¹	HP:0000618
5	abnormality of metabolism/homeostasis ³¹	HP:0001939
6	ventriculomegaly ³¹	HP:0002119
7	choreoathetosis ³¹	HP:0001266
8	generalized hypotonia ³¹	HP:0001290
9	hypsarrhythmia ³¹	HP:0002521
10	seizure ³¹	HP:0001250

Symptoms via clinical synopsis from OMIM:

⁵⁶

Neuro:
seizures
choreoathetosis
hypotonia

Eyes:
blindness

Radiology:
dilated ventricles by air encephalography

Head:
microcephaly

Ears:
deafness

Lab:
hypsarrhythmia by eeg
very low beta-xylosidase in short-term lymphocyte culture

Clinical features from OMIM:

278900

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Drugs & Therapeutics for Xylosidase Deficiency

Search Clinical Trials , NIH Clinical Center for Xylosidase Deficiency

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Genetic Tests for Xylosidase Deficiency

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Anatomical Context for Xylosidase Deficiency

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Publications for Xylosidase Deficiency

Articles related to Xylosidase Deficiency:

#	Title	Authors	PMID	Year
1	A case of beta-xylosidase deficiency. ⁵⁶ ⁶¹	Payling-Wright CR...Evans PR	4193777	1970

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Genes for Xylosidase Deficiency

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Variations for Xylosidase Deficiency

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Expression for Xylosidase Deficiency

Search GEO for disease gene expression data for Xylosidase Deficiency.

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Pathways for Xylosidase Deficiency

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GO Terms for Xylosidase Deficiency

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Sources for Xylosidase Deficiency

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