ORPHA:34587
Danon disease
Synonyms: GSD due to LAMP-2 deficiency · GSD, type 2B · GSD, type IIb · Glycogen storage disease due to LAMP-2 deficiency · Glycogen storage disease, type 2B · Glycogen storage disease, type IIb · Glycogenosis due to LAMP-2 deficiency · Lysosomal glycogen storage disease with normal acid maltase activity
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Childhood
- Status
- active
A rare X-linked genetic condition due to deficiency of the lysosomal-associated membrane protein 2 (LAMP2) characterized by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficits (in males).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Danon disease | GSD due to LAMP-2 deficiency · GSD, type 2B · GSD, type IIb · Glycogen storage disease due to LAMP-2 deficiency · Glycogen storage disease, type 2B · Glycogen storage disease, type IIb · Glycogenosis due to LAMP-2 deficiency · Lysosomal glycogen storage disease with normal acid maltase activity |
| fr | Maladie de Danon | GSD type 2B · GSD type IIb · Glycogénose lysosomale à activité maltase acide normale · Glycogénose par déficit en LAMP-2 · Glycogénose type 2B · Glycogénose type IIb |
| de | Danon-Krankheit | Glykogen-Speicherkrankheit Typ 2B · Glykogen-Speicherkrankheit Typ IIb · Glykogen-Speicherkrankheit durch LAMP-2-Defizienz · Glykogenose Typ IIb · Glykogenose durch LAMP-2-Mangel · Lysosomale Glykogen-Speicherkrankheit mit normaler saure Maltase-Aktivität |
| es | Enfermedad de Danon | Enfermedad de almacenamiento de glucógeno por deficiencia de LAMP-2 · Enfermedad de almacenamiento de glucógeno tipo 2B · Enfermedad de almacenamiento de glucógeno tipo IIb · Enfermedad de depósito de glucógeno por deficiencia de LAMP-2 · Enfermedad de depósito lisosomal de glucógeno con actividad normal de maltasa ácida · GSD por deficiencia de LAMP-2 · GSD tipo 2B · GSD tipo IIb · Glucogenosis por deficiencia de LAMP-2 |
| it | Malattia di Danon | GSD da deficit di LAMP2 · GSD, tipo 2B · GSD, tipo IIb · Glicogenosi da deficit di LAMP2 · Malattia da accumulo di glicogeno da deficit di LAMP-2 · Malattia da accumulo di glicogeno, tipo 2B · Malattia da accumulo di glicogeno, tipo IIb · Malattia da accumulo lisosomiale di glicogeno con attività normale della maltasi acida |
| nl | Ziekte van Danon | GSD door deficiëntie van LAMP-2 · GSD type 2B · GSD type IIb · Glycogeenstapelingsziekte door deficiëntie van LAMP-2 · Glycogeenstapelingsziekte type 2B · Glycogeenstapelingsziekte type IIb · Glycogenose door deficiëntie van LAMP-2 · Lysosomale glycogeenstapelingsziekte met normale activiteit van zure maltase |
| pt | Doença Danon | Doença de Danon · Doença de armazenamento de glicogénio lisossomal com atividade normal da maltase ácida · Doença de armazenamento de glicogénio por deficiência de LAMP-2 · Doença de armazenamento de glicogénio, tipo 2B · Doença de armazenamento de glicogénio, tipo IIb · GSD por deficiência de LAMP-2 · GSD, tipo 2B · GSD, tipo IIb · Glicogenose por deficiência de LAMP-2 |
| pl | Choroba spichrzania glikogenu z powodu niedoboru LAMP-2 | Choroba Danona · Choroba spichrzania glikogenu z prawidłowym poziomem kwaśnej maltazy · Glikogenoza z powodu niedoboru LAMP-2 · GSD z powodu niedoboru LAMP-2 |
| cs | Glykogenóza způsobená deficitem LAMP2 | Danonova nemoc · Lysosomální glykogenóza s normální aktivitou kyselé maltázy · GSD způsobená deficitem LAMP2 |
| uk | Хвороба Данона | Хвороба накопичення глікогену через дефіцит LAMP-2 · Глікогенова хвороба, тип 2B · Глікогенова хвороба, тип IIb · Глікогеноз внаслідок дефіциту LAMP-2 · GSD через дефіцит LAMP-2 · GSD, тип 2B · GSD, тип IIb · Лізосомальна хвороба накопичення глікогену з нормальною активністю кислої мальтази |
| zh | LAMP2缺乏所致糖原贮积病 | 肝糖原贮积病伴正常酸性麦芽糖活性 |
| tr | LAMP-2 eksikliğine bağlı glikojen depo hastalığı | Danon hastalığı · LAMP-2 eksikliğine bağlı GSD · LAMP-2 eksikliğine bağlı glikojenoz · Normal asit maltaz aktivitesi ile seyreden lizozomal glikojen depo hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300257 | E | validated | |
| ICD-10 | E74.0 | NTBT | attributed | validated |
| ICD-11 | 5C51.3 | NTBT | index | validated |
| MONDO | 0010281 | E | validated | |
| UMLS | C0878677 | E | validated | |
| GARD | 9730 | 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 (6):
- ORPHA:217607Familial dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases - ORPHA:79201Glycogen storage disease
rare inborn errors of metabolism; rare genetic diseases - ORPHA:217572Glycogen storage disease with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:309337Lysosomal glycogen storage disease
rare inborn errors of metabolism; rare genetic diseases - ORPHA:206959Muscular glycogenosis
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LAMP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6501 | ENSG00000005893 | 309060 | Xq24 | lysosome associated membrane protein 2 |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 84 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | <1 / 1 000 000 | 0.05 / 100 000 | Sweden | Value and class | Validated | 25274184[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
32 annotations · validated 2026-02-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006543 | Cardiorespiratory arrest | |
| HP:0001288 | Gait disturbance | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0010547 | Muscle flaccidity | |
| HP:0001962 | Palpitations | |
| HP:0001279 | Syncope | |
| Frequent (79-30%) | ||
| HP:0000622 | Blurred vision | |
| HP:0100749 | Chest pain | |
| HP:0012735 | Cough | |
| HP:0002094 | Dyspnea | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001249 | Intellectual disability | |
| HP:0001324 | Muscle weakness | |
| HP:0000545 | Myopia | |
| HP:0009073 | Progressive proximal muscle weakness | |
| HP:0007663 | Reduced visual acuity | |
| HP:0003756 | Skeletal myopathy | |
| HP:0001328 | Specific learning disability | |
| HP:0030828 | Wheezing | |
| HP:0001716 | Wolff-Parkinson-White syndrome | |
| Occasional (29-5%) | ||
| HP:0000739 | Anxiety | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000708 | Atypical behavior | |
| HP:0000716 | Depression | |
| HP:0002240 | Hepatomegaly | |
| HP:0001270 | Motor delay | |
| HP:0000662 | Nyctalopia | |
| HP:0000613 | Photophobia | |
| HP:0000488 | Retinopathy | |
| Very rare (<4-1%) | ||
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0001310 | Dysmetria | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 41121270[PMID]_31424795[PMID]_31424795[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/34587
- This record as JSON: /data/d/34587.json