ORPHA:93
Aspartylglucosaminuria
Synonyms: Aspartylglucosaminidase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare oligosaccharidosis characterized by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aspartylglucosaminuria | Aspartylglucosaminidase deficiency |
| fr | Aspartylglucosaminurie | Déficit en aspartylglucosaminidase |
| de | Aspartylglukosaminurie | Aspartyl-Glukosaminidase-Mangel |
| es | Aspartilglucosaminuria | Deficiencia de aspartilglucosaminidasa |
| it | Aspartilglucosaminuria | Deficit di aspartilglucosaminidasi |
| nl | Aspartylglucosaminurie | AGA-deficiëntie · AGU · Aspartylglucosaminidasedeficiëntie |
| pt | Aspartilglicosaminúria | Deficiência de aspartilglucosaminidase |
| pl | Aspartyloglikozoaminuria | Niedobór aspartyloglukozoaminidazy |
| cs | Aspartylglukosaminourie | Deficit aspartylglukosaminidázy |
| uk | Аспартилглюкозамінурія | Дефіцит аспартаглюкозамінідази |
| zh | 天冬氨酰葡萄糖胺尿症 | 天冬氨酰葡糖胺酶缺乏症 |
| tr | Aspartilglukozaminüri | Aspartilglukozaminidaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 208400 | E | validated | |
| ICD-10 | E77.1 | NTBT | inclusion | validated |
| ICD-11 | 5C56.21 | NTBT | index | validated |
| MONDO | 0008830 | E | validated | |
| MeSH | D054880 | E | validated | |
| UMLS | C0268225 | E | validated | |
| GARD | 5854 | E | validated | |
| MedDRA | 10068220 | 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 (5):
- ORPHA:225681Lysosomal disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:93448Lysosomal storage disease with skeletal involvement
rare genetic diseases; rare bone 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
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AGA | Disease-causing germline mutation(s) in | Assessed | HGNC:318 | ENSG00000038002 | 613228 | 4q34.3 | aspartylglucosaminidase | 11309371[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 / 100 000 | Australia | Value and class | Validated | 9918480[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.62 / 100 000 | Sweden | Value and class | Validated | 25274184[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.35 / 100 000 | Finland | Value and class | Validated | 27906067[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.
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HPO phenotypes
43 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0004337 | Abnormality of amino acid metabolism | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0012068 | Aspartylglucosaminuria | |
| HP:0000750 | Delayed speech and language development | |
| HP:0100660 | Dyskinesia | |
| HP:0000212 | Gingival overgrowth | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0100729 | Large face | |
| HP:0000303 | Mandibular prognathia | |
| HP:0008551 | Microtia | |
| HP:0002650 | Scoliosis | |
| HP:0003196 | Short nose | |
| HP:0012471 | Thick vermilion border | |
| HP:0001537 | Umbilical hernia | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0003103 | Abnormal cortical bone morphology | |
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0008430 | Anterior beaking of lumbar vertebrae | |
| HP:0000670 | Carious teeth | |
| HP:0000280 | Coarse facial features | |
| HP:0000158 | Macroglossia | |
| HP:0000053 | Macroorchidism | |
| HP:0000768 | Pectus carinatum | |
| HP:0002684 | Thickened calvaria | |
| Occasional (29-5%) | ||
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0001369 | Arthritis | |
| HP:0000708 | Atypical behavior | |
| HP:0004568 | Beaking of vertebral bodies | |
| HP:0000389 | Chronic otitis media | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0002240 | Hepatomegaly | |
| HP:0000023 | Inguinal hernia | |
| HP:0001387 | Joint stiffness | |
| HP:0002024 | Malabsorption | |
| HP:0001763 | Pes planus | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0001250 | Seizure | |
| HP:0002360 | Sleep abnormality | |
| HP:0001744 | Splenomegaly | |
| HP:0011276 | Vascular skin abnormality | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93
- This record as JSON: /data/d/93.json