ORPHA:206583
Adult polyglucosan body disease
Synonyms: APBD
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adult polyglucosan body disease | APBD |
| fr | Maladie des corps de polyglucosane de l'adulte | = en |
| de | Polyglukosankörper-Krankheit, adulte | = en |
| es | Adult polyglucosan body disease | ECPA |
| it | Malattia da corpi di poliglucosano dell'adulto | = en |
| nl | Volwassen ziekte met polyglucosanlichaampjes | = en |
| pt | Doença de corpos de poliglucosano do adulto | |
| pl | Choroba ciał skrobiowatych u dorosłych | = en |
| cs | Adultní nemoc s polyglukosanovými tělísky | = en |
| uk | Хвороба з поліглюкозановими тільцями у дорослих | = en |
| zh | 成人葡聚糖多聚体神经病变 | = en |
| tr | Yetişkin poliglukozan vücut hastalığı | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 263570 | E | validated | |
| ICD-10 | E74.0 | NTBT | attributed | validated |
| ICD-11 | 5C51.3 | NTBT | attributed | validated |
| MONDO | 0009897 | E | validated | |
| MeSH | C564878 | E | validated | |
| UMLS | C1849722 | E | validated | |
| GARD | 108 | E | validated | |
| MedDRA | 10077946 | 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 (2):
- ORPHA:367Glycogen storage disease due to glycogen branching enzyme deficiency
rare cardiac diseases; rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare hepatic diseases; rare transplant-related disorders - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
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 |
|---|---|---|---|---|---|---|---|---|
| GBE1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4180 | ENSG00000114480 | 607839 | 3p12.2 | 1,4-alpha-glucan branching enzyme 1 | 10762170[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| 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:0007256 | Abnormal pyramidal sign | |
| HP:0001288 | Gait disturbance | |
| HP:0001269 | Hemiparesis | |
| HP:0001249 | Intellectual disability | |
| HP:0001324 | Muscle weakness | |
| HP:0000011 | Neurogenic bladder | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0001257 | Spasticity | |
| HP:0002839 | Urinary bladder sphincter dysfunction | |
| HP:0000020 | Urinary incontinence | |
| Frequent (79-30%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0002936 | Distal sensory impairment | |
| HP:0200042 | Skin ulcer | |
| Occasional (29-5%) | ||
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0001251 | Ataxia | |
| HP:0000726 | Dementia | |
| HP:0003457 | EMG abnormality | |
| HP:0001376 | Limitation of joint mobility | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/206583
- This record as JSON: /data/d/206583.json