ORPHA:3137
Alpha-N-acetylgalactosaminidase deficiency
Synonyms: NAGA deficiency · Schindler disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult, Childhood, Infancy
- Status
- active
A very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alpha-N-acetylgalactosaminidase deficiency | NAGA deficiency · Schindler disease |
| fr | Déficit en alpha-N-acétylgalactosaminidase | Déficit en NAGA · Maladie de Schindler |
| de | Alpha-N-Acetylgalactosaminidase-Mangel | NAGA-Mangel · Schindler-Krankheit |
| es | Deficiencia de N-acetil-alfa-D-galactosaminidasa | Deficiencia de NAGA · Enfermedad de Schindler |
| it | Deficit di alfa-N-acetilgalattosaminidasi | Deficit di NAGA · Malattia di Schindler |
| nl | Deficiëntie van alfa-N-acetylgalactosaminidase | NAGA-deficiëntie · Ziekte van Schindler |
| pt | Deficiência de N-acetil-alfa-D-galactosaminidase | Deficiência de NAGA |
| pl | Niedobór alfa-N-acetylgalaktozoaminidazy | Choroba Schindlera · Niedobór NAGA |
| cs | Deficit alfa-N-acetylgalaktosaminidázy | NAGA deficit · Schindlerova nemoc |
| uk | Дефіцит альфа-N-ацетилгалактозамінідази | Дефіцит NAGA · Хвороба Шиндлера |
| zh | α-N-乙酰半乳糖胺酶缺乏症 | Schindler病 |
| tr | Alfa-N-asetilgalaktozaminidaz eksikliği | NAGA eksikliği · Schindler hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609241 | BTNT | validated | |
| OMIM | 609242 | BTNT | validated | |
| ICD-10 | E77.1 | NTBT | attributed | validated |
| ICD-11 | 5C56.21 | NTBT | index | validated |
| MONDO | 0017779 | E | validated | |
| UMLS | C5848084 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:225681Lysosomal disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:79215Oligosaccharidosis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
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Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| NAGA | ORPHA:79279Alpha-N-acetylgalactosaminidase deficiency type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7631 | ENSG00000198951 | 104170 | 22q13.2 | alpha-N-acetylgalactosaminidase | |
| NAGA | ORPHA:79280Alpha-N-acetylgalactosaminidase deficiency type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:7631 | ENSG00000198951 | 104170 | 22q13.2 | alpha-N-acetylgalactosaminidase | |
| NAGA | ORPHA:79281Alpha-N-acetylgalactosaminidase deficiency type 3 | Disease-causing germline mutation(s) in | Assessed | HGNC:7631 | ENSG00000198951 | 104170 | 22q13.2 | alpha-N-acetylgalactosaminidase |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
28 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000618 | Blindness | |
| HP:0002376 | Developmental regression | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0010471 | Oligosacchariduria | |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0000518 | Cataract | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0002169 | Clonus | |
| HP:0000280 | Coarse facial features | |
| HP:0000639 | Nystagmus | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0001250 | Seizure | |
| HP:0002445 | Tetraplegia | |
| HP:0011276 | Vascular skin abnormality | |
| HP:0002321 | Vertigo | |
| Occasional (29-5%) | ||
| HP:0000717 | Autism | |
| HP:0001640 | Cardiomegaly | |
| HP:0002019 | Constipation | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001004 | Lymphedema | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0002650 | Scoliosis | |
| HP:0000486 | Strabismus | |
| HP:0012471 | Thick vermilion border | |
Run the differential on the 8 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3137
- This record as JSON: /data/d/3137.json