ORPHA:79272

Sanfilippo syndrome type D

Synonyms: GNS deficiency · Glucosamine N-acetyl-6-sulfatase deficiency · MPS3D · MPSIIID · Mucopolysaccharidosis type 3D · Mucopolysaccharidosis type IIID

Type: Etiological subtype
Group: Subtype of disorder
Inheritance: Autosomal recessive
Status: active

This disease is described under Mucopolysaccharidosis type 3

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Sanfilippo syndrome type D	GNS deficiency · Glucosamine N-acetyl-6-sulfatase deficiency · MPS3D · MPSIIID · Mucopolysaccharidosis type 3D · Mucopolysaccharidosis type IIID
fr	Maladie de Sanfilippo type D	Déficit en GNS · Déficit en glucosamine N-acétyl-6-sulfatase · MPS3D · MPSIIID · Mucopolysaccharidose type 3D · Mucopolysaccharidose type IIID
de	Sanfilippo-Krankheit Typ D	GNS-Mangel · Glucosamin N-Acetyl-6-Sulfatase-Mangel · MPS3D · MPSIIID · Mukopolysaccharidose Typ 3D · Mukopolysaccharidose Typ IIID
es	Síndrome de Sanfilippo tipo D	Deficiencia de GNS · Deficiencia de N-acetil-glucosamina-6-sulfatasa · MPS3D · MPSIIID · Mucopolisacaridosis tipo 3D · Mucopolisacaridosis tipo IIID
it	Sindrome di Sanfilippo, tipo D	Deficit di GNS · Deficit di glucosamina N-acetil-6-sulfatasi · MPS3D · MPSIIID · Mucopolisaccaridosi, tipo 3D · Mucopolisaccaridosi, tipo IIID
nl	Syndroom van Sanfilippo type D	GNS-deficiëntie · Glucosamine N-acetyl-6-sulfatasedeficiëntie · MPS3D · MPSIIID · Mucopolysacharidose type 3D · Mucopolysacharidose type IIID
pt	Síndrome Sanfilippo tipo D (Mucopolissacaridose tipo 3D)
pl	Zespół Sanfilippo typu D	MPS3D · MPSIIID · Mukopolisacharydoza typu 3D · Mukopolisacharydoza typu IIID · Niedobór GNS · Niedobór N-acetylo-6-sulfatazy glukozaminy
cs	Sanfilippův syndrom, typ D	Deficit GNS · Deficit glukosamin-N-acetyl-6-sulfatázy · MPS3D · MPSIIID · Mukopolysacharidóza, typ 3D · Mukopolysacharidóza, typ IIID
uk	Синдром Санфіліппо, тип D	Дефіцит глюкозамін-N-ацетил-6-сульфатази · Дефіцит GNS · MPS3D · MPSIIID · Мукополісахаридоз типу 3D · Мукополісахаридоз типу IIID
zh	Sanfilippo综合征D型	氨基葡萄糖N-乙酰-6-硫酸酯酶缺乏症
tr	Sanfilippo sendromu tip D	MPS3D · MPSIIID · GNS eksikliği · Mukopolisakkaridoz tipi 3D · Mukopolisakkaridoz tip IIID · Glukozamin N-asetil-6-sülfataz eksikliği

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	252940	E		validated
ICD-10	E76.2	NTBT	attributed	validated
ICD-11	5C56.3Y	NTBT	index	validated
MONDO	0009658	E		validated
UMLS	C0086650	E		validated
GARD	7074	E		validated

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

Classification

Preferential parent (Orphanet linearisation):

ORPHA:68367Rare inborn error of metabolism

Parents in the classifications (1):

ORPHA:581Mucopolysaccharidosis type 3
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders; rare bone diseases; rare transplant-related disorders

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
GNS	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:4422	ENSG00000135677	607664	12q14.3	glucosamine (N-acetyl)-6-sulfatase	12573255[PMID]_17998446[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Prevalence at birth	1-9 / 1 000 000	0.1 / 100 000	Netherlands	Value and class	Validated	10480370[PMID]
Prevalence at birth	1-9 / 1 000 000	0.1 / 100 000	Australia	Value and class	Validated	9918480[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/79272
This record as JSON: /data/d/79272.json