MCID: XYL002
MIFTS: 10

Xylosidase Deficiency

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


Summaries for Xylosidase Deficiency

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

More information from OMIM: 278900

Related Diseases for Xylosidase Deficiency

Symptoms & Phenotypes for Xylosidase Deficiency

Human phenotypes related to Xylosidase Deficiency:

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

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

Drugs & Therapeutics for Xylosidase Deficiency

Search Clinical Trials , NIH Clinical Center for Xylosidase Deficiency

Genetic Tests for Xylosidase Deficiency

Anatomical Context for Xylosidase Deficiency

Publications for Xylosidase Deficiency

Articles related to Xylosidase Deficiency:

# Title Authors PMID Year
1
A case of beta-xylosidase deficiency. 61 56
4193777 1970

Variations for Xylosidase Deficiency

Expression for Xylosidase Deficiency

Search GEO for disease gene expression data for Xylosidase Deficiency.

Pathways for Xylosidase Deficiency

GO Terms for Xylosidase Deficiency

Sources for Xylosidase Deficiency

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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