Alpha-N-acetylgalactosaminidase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: Schindler disease
NAGA deficiency
Number of Symptoms 41
OrphanetNr: 3137
OMIM Id: 609241
609242
ICD-10: E77.1
UMLs: C0342850
MeSH:
MedDRA:
Snomed: 238048001

Prevalence, inheritance and age of onset:

Prevalence: < 20 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Lysosomal disease with epilepsy
 -Rare neurologic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease
Oligosaccharidosis
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000280) Coarse facial features Frequent [Orphanet] 189 / 7739
2
 (HPO:0012471) Thick vermilion border Occasional [Orphanet] 115 / 7739
3
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
4
 (HPO:0100704) Cortical visual impairment 28 / 7739
5
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
6
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
7
 (HPO:0000648) Optic atrophy 238 / 7739
8
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
9
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
10
 (HPO:0001347) Hyperreflexia 363 / 7739
11
 (HPO:0001263) Global developmental delay 853 / 7739
12
 (HPO:0002376) Developmental regression 74 / 7739
13
 (HPO:0001336) Myoclonus 115 / 7739
14
 (HPO:0004305) Involuntary movements Frequent [Orphanet] 50 / 7739
15
 (HPO:0010864) Intellectual disability, severe 120 / 7739
16
 (HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
17
 (HPO:0004374) Hemiplegia/hemiparesis Frequent [Orphanet] 158 / 7739
18
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
19
 (HPO:0001257) Spasticity 251 / 7739
20
 (HPO:0009830) Peripheral neuropathy Frequent [Orphanet] 206 / 7739
21
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
22
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
23
 (HPO:0002141) Gait imbalance Frequent [Orphanet] 55 / 7739
24
 (HPO:0000938) Osteopenia 138 / 7739
25
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
26
 (HPO:0002019) Constipation Occasional [Orphanet] 194 / 7739
27
 (HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
28
 (HPO:0011276) Vascular skin abnormality Very frequent [Orphanet] 24 / 7739
29
 (HPO:0001640) Cardiomegaly Occasional [Orphanet] 81 / 7739
30
 (HPO:0003461) Increased urinary O-linked sialopeptides 5 / 7739
31
 (HPO:0010471) Oligosacchariduria Very frequent [Orphanet] 4 / 7739
32
 (HPO:0001004) Lymphedema Occasional [Orphanet] 62 / 7739
33
 (HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 254 / 7739
34
 (HPO:0003700) Generalized amyotrophy 39 / 7739
35
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
36
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
37
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
38
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
39
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
40
 (HPO:0003593) Infantile onset 249 / 7739
41
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: