Galactosialidosis

General Information (adopted from Orphanet):

Synonyms, Signs: CATHEPSIN A DEFICIENCY
NEURAMINIDASE/BETA-GALACTOSIDASE EXPRESSION
PPCA DEFICIENCY
PROTECTIVE PROTEIN/CATHEPSIN A DEFICIENCY
LYSOSOMAL PROTECTIVE PROTEIN DEFICIENCY
NGBE
GSL
goldberg syndrome
neuraminidase deficiency with beta-galactosidase deficiency
Number of Symptoms 32
OrphanetNr: 351
OMIM Id: 256540
ICD-10: E77.1
UMLs: C0268233
MeSH: C536411
MedDRA:
Snomed: 35691006

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Lysosomal storage disease with skeletal involvement
 -Rare bone disease
 -Rare genetic disease
Metabolic disease with corneal opacity
 -Rare eye disease
 -Rare genetic disease
Metabolic disease with macular cherry-red spot
 -Rare eye disease
 -Rare genetic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease
Oligosaccharidosis
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Unclassified primitive or secondary maculopathy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
2
(HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 124 / 7739
3
(HPO:0010729) Cherry red spot of the macula 10 / 7739
4
(HPO:0000524) Conjunctival telangiectasia 17 / 7739
5
(HPO:0008002) Abnormality of macular pigmentation Very frequent [Orphanet] 20 / 7739
6
(HPO:0007759) Opacification of the corneal stroma 77 / 7739
7
(HPO:0007957) Corneal opacity 84 / 7739
8
(HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
9
(HPO:0001249) Intellectual disability 1089 / 7739
10
(HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
11
(HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
12
(HPO:0000943) Dysostosis multiplex 22 / 7739
13
(HPO:0003468) Abnormality of the vertebrae Very frequent [Orphanet] 77 / 7739
14
(HPO:0001433) Hepatosplenomegaly Occasional [HPO:probinson] 78 / 7739
15
(HPO:0003510) Severe short stature 90 / 7739
16
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
17
(HPO:0001028) Hemangioma 23 / 7739
18
(HPO:0008166) Decreased beta-galactosidase activity 6 / 7739
19
(OMIM) Vacuolated Kupffer cells 1 / 7739
20
(OMIM) Decreased carboxypeptidase-L/protective protein activity 1 / 7739
21
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
22
(OMIM) Occasionally hepatosplenomegaly 1 / 7739
23
(OMIM) Elevated urine sialyloligosaccharides but no free sialic acid 1 / 7739
24
(OMIM) EM of skin biopsy and peripheral blood lymphocytes shows membrane-bound fibrillogranular inclusions 1 / 7739
25
(OMIM) Neuraminidase deficiency 2 / 7739
26
(OMIM) Widespread hemangiomas 1 / 7739
27
(OMIM) Mitral valvular disease 1 / 7739
28
(OMIM) Beta-galactosidase deficiency 1 / 7739
29
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
30
(OMIM) Macular cherry red spot 2 / 7739
31
(OMIM) Usually no organomegaly 1 / 7739
32
(OMIM) Aortic valvular disease 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Galactosialidosis is a lysosomal storage disease associated with a combined deficiency of beta-galactosidase (611458) and neuraminidase (608272), secondary to a defect in protective protein/cathepsin A (PPCA). All patients have clinical manifestations typical of a lysosomal disorder, such as ...
Diagnosis OMIM - Prenatal Diagnosis

Kleijer et al. (1979) made the prenatal diagnosis of galactosialidosis by measuring beta-galactosidase and neuraminidase activities in cultured amniotic fluid cells.
Clinical Description OMIM Goldberg et al. (1971) described 3 children (2 boys and a girl), in a Mexican family with first-cousin parents, who had a disorder characterized by dwarfism, gargoyle facies, mental retardation, seizures, corneal clouding, macular cherry red spot, beta-galactosidase ...
Molecular genetics OMIM In a clinical and molecular analysis of 19 Japanese galactosialidosis patients from 15 unrelated families, Takano et al. (1991) found only 2 cases with generalized and severe manifestations of neonatal onset; the other 17 cases had late onset ...