Acid phosphatase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr: 35121
OMIM Id: 200950
ICD-10: E83.3
UMLs: C0268410
MeSH:
MedDRA:
Snomed: 57863006

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Lysosomal disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0002179) Opisthotonus 35 / 7739
2
(HPO:0002013) Vomiting 191 / 7739
3
(HPO:0001892) Abnormal bleeding 85 / 7739
4
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
5
(HPO:0001252) Muscular hypotonia 990 / 7739
6
(HPO:0001324) Muscle weakness 859 / 7739
7
(HPO:0010547) Muscle flaccidity 466 / 7739
8
(OMIM) Acid phosphatase deficiency 1 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Nadler and Egan (1970) reported 5 children of first-cousin parents with a disorder characterized by intermittent vomiting, hypotonia, lethargy, opisthotonos, terminal bleeding, and death in early infancy. Essentially no acid phosphatase could be detected in lysates of cultured ...