ORPHA:79281
Alpha-N-acetylgalactosaminidase deficiency type 3
Synonyms: NAGA deficiency type 3 · Schindler disease type 3
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alpha-N-acetylgalactosaminidase deficiency type 3 | NAGA deficiency type 3 · Schindler disease type 3 |
| fr | Déficit en alpha-N-acétyl-galactosaminidase type 3 | Déficit en NAGA type 3 · Maladie de Schindler type 3 |
| de | Alpha-N-Acetylgalactosaminidase-Mangel Typ 3 | NAGA-Mangel Typ 3 · Schindler-Krankheit Typ 3 |
| es | Deficiencia de alfa-N-acetilgalactosaminidasa tipo 3 | Deficiencia de NAGA tipo 3 · Enfermedad de Schindler tipo 3 |
| it | Deficit di alfa-N-acetilgalattosaminidasi, tipo 3 | Deficit di NAGA, tipo 3 · Malattia di Schindler, tipo 3 |
| nl | Deficiëntie van alfa-N-acetylgalactosaminidase type 3 | NAGA-deficiëntie type 3 · Ziekte van Schindler type 3 |
| pt | Deficiência de alfa-N-acetilgalactosaminidase tipo 3 | |
| pl | Niedobór alfa-N-galaktozoaminidazy typu 3 | Choroba Schindlera typu 3 · Niedobór NAGA typu 3 |
| cs | Deficit alfa-N-acetylgalaktosaminidázy, typ 3 | Deficit NAGA, typ 3 · Schindlerova nemoc, typ 3 |
| uk | Дефіцит альфа-N-ацетилгалактозамінідази, тип 3 | Дефіцит NAGA типу 3 · Хвороба Шиндлера, тип 3 |
| zh | α-N-乙酰半乳糖胺酶缺陷症3型 | Schindler病3型 |
| tr | Alfa-N-asetilgalaktozaminidaz eksikliği tip 3 | NAGA eksikliği tip 3 · Schindler hastalığı tip 3 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609241 | NTBT | validated | |
| ICD-10 | E77.1 | NTBT | attributed | validated |
| ICD-11 | 5C56.21 | NTBT | index | validated |
| MONDO | 0019264 | E | validated | |
| UMLS | C5437471 | E | validated | |
| GARD | 3903 | 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 (4):
- ORPHA:3137Alpha-N-acetylgalactosaminidase deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders - ORPHA:98644Metabolic disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NAGA | 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 | 10 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
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000717 | Autism | |
| HP:0000518 | Cataract | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0002240 | Hepatomegaly | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79281
- This record as JSON: /data/d/79281.json