ORPHA:79279

Alpha-N-acetylgalactosaminidase deficiency type 1

Synonyms: NAGA deficiency type 1 · Schindler disease type 1

A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Alpha-N-acetylgalactosaminidase deficiency type 1	NAGA deficiency type 1 · Schindler disease type 1
fr	Déficit en alpha-N-acétyl-galactosaminidase type 1	Déficit en NAGA type 1 · Maladie de Schindler type 1
de	Alpha-N-Acetylgalactosaminidase-Mangel Typ 1	NAGA-Mangel Typ 1 · Schindler-Krankheit Typ 1
es	Deficiencia de alfa-N-acetilgalactosaminidasa tipo 1	Deficiencia de NAGA tipo 1 · Enfermedad de Schindler tipo 1
it	Deficit di alfa-N-acetilgalattosaminidasi, tipo 1	Deficit di NAGA, tipo 1 · Malattia di Schindler, tipo 1
nl	Deficiëntie van alfa-N-acetylgalactosaminidase type 1	NAGA-deficiëntie type 1 · Ziekte van Schindler type 1
pt	Deficiência de alfa-N-acetilgalactosaminidase tipo 1
pl	Niedobór alfa-N-galaktozoaminidazy typu 1	Choroba Schindlera typu 1 · Deficyt NAGA typu 1
cs	Deficit alfa-N-acetylgalaktosaminidázy, typ 1	NAGA deficit, typ 1 · Schindlerova nemoc, typ 1
uk	Дефіцит альфа-N-ацетилгалактозамінідази, тип 1	Дефіцит NAGA типу 1 · Хвороба Шиндлера, тип 1
zh	α-N-乙酰半乳糖胺酶缺陷症1型	Schindler病1型
tr	Alfa-N-asetilgalaktozaminidaz eksikliği tip 1	NAGA eksikliği tip 1 · Schindler hastalığı tip 1

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	609241	E		validated
ICD-10	E77.1	NTBT	attributed	validated
ICD-11	5C56.21	NTBT	index	validated
MONDO	0012221	E		validated
MeSH	C536631	E		validated
UMLS	C1836544	E		validated
GARD	116	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

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.

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

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.

30 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0002363	Abnormal brainstem morphology
HP:0007256	Abnormal pyramidal sign
HP:0100704	Cerebral visual impairment
HP:0002376	Developmental regression
HP:0003700	Generalized amyotrophy
HP:0001263	Global developmental delay
HP:0000365	Hearing impairment
HP:0001252	Hypotonia
HP:0010864	Intellectual disability, severe
HP:0001324	Muscle weakness
HP:0001250	Seizure
HP:0001257	Spasticity
Frequent (79-30%)
HP:0002071	Abnormality of extrapyramidal motor function
HP:0000717	Autism
HP:0004374	Hemiplegia/hemiparesis
HP:0000962	Hyperkeratosis
HP:0001336	Myoclonus
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000763	Sensory neuropathy
HP:0000486	Strabismus
HP:0001009	Telangiectasia
HP:0100585	Telangiectasia of the skin
HP:0002321	Vertigo
Occasional (29-5%)
HP:0007360	Aplasia/Hypoplasia of the cerebellum
HP:0002240	Hepatomegaly
HP:0001639	Hypertrophic cardiomyopathy
HP:0001004	Lymphedema
HP:0003401	Paresthesia
HP:0009830	Peripheral neuropathy