ORPHA:79280
Alpha-N-acetylgalactosaminidase deficiency type 2
Synonyms: Adult-onset Alpha-N-acetylgalactosaminidase deficiency · Kanzaki disease · NAGA deficiency type 2 · Schindler disease type 2
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alpha-N-acetylgalactosaminidase deficiency type 2 | Adult-onset Alpha-N-acetylgalactosaminidase deficiency · Kanzaki disease · NAGA deficiency type 2 · Schindler disease type 2 |
| fr | Déficit en alpha-N-acétyl-galactosaminidase de l'adulte | Déficit en NAGA type 2 · Déficit en alpha-N-acétyl-galactosaminidase type 2 · Maladie de Kanzaki · Maladie de Schindler type 2 |
| de | Alpha-N-Acetylgalactosaminidase-Mangel Typ 2 | Alpha-N-Acetylgalactosaminidase-Mangel, adulter · Kanzaki-Krankheit · NAGA-Mangel Typ 2 · Schindler-Krankheit Typ 2 |
| es | Deficiencia de alfa-N-acetilgalactosaminidasa tipo 2 | Deficiencia de NAGA tipo 2 · Deficiencia de alfa-N-acetilgalactosaminidasa de inicio en el adulto · Enfermedad de Kanzaki · Enfermedad de Schindler tipo 2 |
| it | Deficit di alfa-N-acetilgalattosaminidasi, tipo 2 | Deficit di NAGA, tipo 2 · Deficit di alfa-N-acetilgalattosaminidasi, a esordio nell'adulto · Malattia di Kanzaki · Malattia di Schindler, tipo 2 |
| nl | Deficiëntie van alfa-N-acetylgalactosaminidase type 2 | Deficiëntie van alfa-N-acetylgalactosaminidase met aanvang in de volwassenheid · NAGA-deficiëntie type 2 · Ziekte van Kanzaki · Ziekte van Schindler type 2 |
| pt | Deficiência de alfa-N-acetilgalactosaminidase tipo 2 | |
| pl | Niedobór alfa-N-galaktozoaminidazy typu 2 | Choroba Kanzaki · Choroba Schindlera typu 2 · Niedobór alfa-N-galaktozoaminidazy dorosłych · Niedobór NAGA typu 2 |
| cs | Deficit alfa-N-acetylgalaktosaminidázy, typ 2 | Kanzakiho choroba · Deficit NAGA, typ 2 · Schindlerova nemoc, typ 2 · Deficit alfa-N-acetylgalaktosaminidázy s počátkem v dospělosti |
| uk | Дефіцит альфа-N-ацетилгалактозамінідази, тип 2 | Дефіцит альфа-N-ацетилгалактозамінідази у дорослих · Хвороба Канзакі · Дефіцит NAGA типу 2 · Хвороба Шиндлера, тип 2 |
| zh | α-N-乙酰半乳糖胺酶缺陷症2型 | 成人型α-N-乙酰半乳糖胺酶缺乏 |
| tr | Alfa-N-asetilgalaktozaminidaz eksikliği tip 2 | Kanzaki hastalığı · NAGA eksikliği tip 2 · Schindler hastalığı tip 2 · Erişkin başlangıçlı Alfa-N-asetilgalaktozaminidaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609242 | E | validated | |
| ICD-10 | E77.1 | NTBT | attributed | validated |
| ICD-11 | 5C56.21 | NTBT | index | validated |
| MONDO | 0012222 | E | validated | |
| UMLS | C1836522 | E | validated | |
| GARD | 9161 | 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 (1):
- ORPHA:3137Alpha-N-acetylgalactosaminidase deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
No children.
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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
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001071 | Angiokeratoma corporis diffusum | |
| HP:0000962 | Hyperkeratosis | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000214 | Lip telangiectasia | |
| HP:0200034 | Papule | |
| HP:0001482 | Subcutaneous nodule | |
| HP:0007428 | Telangiectasia of the oral mucosa | |
| HP:0100585 | Telangiectasia of the skin | |
| HP:0002321 | Vertigo | |
| Frequent (79-30%) | ||
| HP:0001640 | Cardiomegaly | |
| HP:0000280 | Coarse facial features | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000365 | Hearing impairment | |
| HP:0001004 | Lymphedema | |
| HP:0007759 | Opacification of the corneal stroma | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0012471 | Thick vermilion border | |
| HP:0000360 | Tinnitus | |
Run the differential on the 9 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79280
- This record as JSON: /data/d/79280.json