MANNOSE 6-PHOSPHATE RECEPTOR RECOGNITION DEFECT, LEBANESE TYPE

General Information (adopted from Orphanet):

Synonyms, Signs: PHOSPHODIESTER GLYCOSIDE DEFICIENCY
Number of Symptoms 6
OrphanetNr:
OMIM Id: 154570
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0004356) Abnormality of lysosomal metabolism 6 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
3
(OMIM) Normal urinary and CSF lysosoal enzymes 1 / 7739
4
(OMIM) Mannose 6-phosphate receptor recognition defect 1 / 7739
5
(OMIM) Normal levels of acid phosphatase, alkaline phosphatase and beta-glucuronidase 1 / 7739
6
(OMIM) Elevated plasma lysosomal enzymes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Beginning with an infant screened for Sandhoff disease, Alexander et al. (1984) found 5 healthy persons in 3 generations of a Lebanese family with high levels of lysosomal enzymes in the plasma comparable to those found in mucolipidoses ...