ORPHA:324
Fabry disease
Synonyms: Alpha-galactosidase A deficiency · Anderson-Fabry disease · FD
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant, X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare genetic, multisystemic lysosomal disease characterized by specific cutaneous (angiokeratoma), neurological (pain), renal (proteinuria, chronic kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular manifestations (transient ischemic attacks, strokes). The phenotypic expression depends on age of onset and, in females, the level of X-inactivation.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fabry disease | Alpha-galactosidase A deficiency · Anderson-Fabry disease · FD |
| fr | Maladie de Fabry | Déficit en alpha-galactosidase A · FD · Maladie d'Anderson-Fabry · Sphingolipidose héréditaire de Fabry · Thésaurismose lipoïdique héréditaire |
| de | Fabry-Syndrom | Alpha-Galaktosidase A-Mangel · Anderson-Fabry-Krankheit · FD · Fabry-Krankheit |
| es | Enfermedad de Fabry | Deficiencia de alfa-galactosidasa A · Enfermedad de Anderson-Fabry |
| it | Malattia di Fabry | Deficit di alfa-galattosidasi A · FD · Malattia di Anderson-Fabry |
| nl | Ziekte van Fabry | Alfa-galactosidase A-deficiëntie · FD · Ziekte van Anderson-Fabry |
| pt | Doença Fabry | Deficiência de alfa-galactosidase A · Doença Anderson-Fabry · FD |
| pl | Choroba Fabry'ego | Choroba Andersona i Fabry'ego · FD · Niedobór alfa-galaktozydazy A · Rogowiec naczyniowy rozlany · Rozsiane zmiany o charakterze angiokeratoma |
| cs | Fabryho nemoc | Deficit alfa-galaktosidázy A · Andersonova-Fabryho nemoc · Angiokeratoma corporis diffusum · Anderson-Fabryho nemoc |
| uk | Хвороба Фабрі | Дефіцит альфа-галактозидази А · Хвороба Андерсона-Фабрі · Ангіокератома дифузна (Angiokeratoma corporis diffusum) · Дифузна ангіокератома · FD |
| zh | 法布里病 | α-半乳糖苷酶A缺乏症 |
| tr | Fabry hastalığı | FD · Yaygın anjiyokeratom · Anderson-Fabry hastalığı · Anjiyokeratoma korporis diffusum · Alfa-galaktosidaz A eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301500 | E | validated | |
| ICD-10 | E75.2 | NTBT | inclusion | validated |
| ICD-11 | 5C56.01 | E | specific | validated |
| MONDO | 0010526 | E | validated | |
| MeSH | D000795 | E | validated | |
| UMLS | C0002986 | E | validated | |
| GARD | 6400 | E | validated | |
| MedDRA | 10016016 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (12):
- ORPHA:139009Developmental anomaly of metabolic origin
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:568047Disorder with multisystemic involvement and primary lymphedema
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare circulatory system diseases - ORPHA:183478Genetic skin vascular disorder
rare genetic diseases - ORPHA:217581Lysosomal disease with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:217638Lysosomal disease with restrictive cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:98644Metabolic disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:93593Nephropathy secondary to a storage or other metabolic disease
rare genetic diseases; rare renal diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:79379Skin vascular disease
rare skin diseases - ORPHA:79225Sphingolipidosis
rare inborn errors of metabolism; rare genetic diseases; rare transplant-related disorders - ORPHA:371442Sphingolipidosis with epilepsy
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GLA | Disease-causing germline mutation(s) in | Assessed | HGNC:4296 | ENSG00000102393 | 300644 | Xq22.1 | galactosidase alpha | 20301469[PMID] |
5
Prevalence and incidence
11 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 6.66 / 100 000 | Worldwide | Value and class | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 6.96 / 100 000 | Australia | Value and class | Validated | 35024668[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.21 / 100 000 | Netherlands | Value and class | Validated | 10480370[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.12 / 100 000 | Portugal | Value and class | Validated | 14685153[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.52 / 100 000 | Czech Republic | Value and class | Validated | 20490927[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.015 / 100 000 | Turkey | Value and class | Validated | 15275696[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.15 / 100 000 | United Kingdom | Value and class | Validated | 11732485[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.25 / 100 000 | Japan | Value and class | Validated | 22790789[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 1.11 / 100 000 | Sweden | Value and class | Validated | 25274184[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.118 / 100 000 | China | Value and class | Validated | 34103049[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.
6
HPO phenotypes
76 annotations · validated 2023-08-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0004343 | Abnormal glycosphingolipid metabolism | |
| HP:0001903 | Anemia | |
| HP:0001014 | Angiokeratoma | |
| HP:0002829 | Arthralgia | |
| HP:0001369 | Arthritis | |
| HP:0001635 | Congestive heart failure | |
| HP:0000524 | Conjunctival telangiectasia | |
| HP:0001131 | Corneal dystrophy | |
| HP:0007957 | Corneal opacity | |
| HP:0034864 | Decreased alpha-galactosidase A activity | |
| HP:0033595 | Elevated circulating globotriaosylceramide concentration | |
| HP:0012378 | Fatigue | |
| HP:0000365 | Hearing impairment | |
| HP:0000790 | Hematuria | |
| HP:0000962 | Hyperkeratosis | |
| HP:0000966 | Hypohidrosis | |
| HP:0002024 | Malabsorption | |
| HP:0100579 | Mucosal telangiectasiae | |
| HP:0003326 | Myalgia | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0000083 | Renal insufficiency | |
| HP:0001482 | Subcutaneous nodule | |
| HP:0100585 | Telangiectasia of the skin | |
| HP:0002326 | Transient ischemic attack | |
| Frequent (79-30%) | ||
| HP:0001646 | Abnormal aortic valve morphology | |
| HP:0003119 | Abnormal circulating lipid concentration | |
| HP:0000091 | Abnormal renal tubule morphology | |
| HP:0031006 | Acroparesthesia | |
| HP:0002039 | Anorexia | |
| HP:0001678 | Atrioventricular block | |
| HP:0000708 | Atypical behavior | |
| HP:0011710 | Bundle branch block | |
| HP:0000518 | Cataract | |
| HP:0012532 | Chronic pain | |
| HP:0000280 | Coarse facial features | |
| HP:0100543 | Cognitive impairment | |
| HP:0500008 | Cornea verticillata | |
| HP:0000823 | Delayed puberty | |
| HP:0002097 | Emphysema | |
| HP:0003546 | Exercise intolerance | |
| HP:0002046 | Heat intolerance | |
| HP:0003077 | Hyperlipidemia | |
| HP:0001653 | Mitral regurgitation | |
| HP:0002017 | Nausea and vomiting | |
| HP:0000112 | Nephropathy | |
| HP:0000648 | Optic atrophy | |
| HP:0000093 | Proteinuria | |
| HP:0004322 | Short stature | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0000360 | Tinnitus | |
| Occasional (29-5%) | ||
| HP:0001637 | Abnormal myocardium morphology | |
| HP:0002823 | Abnormality of femur morphology | |
| HP:0004306 | Abnormality of the endocardium | |
| HP:0002571 | Achalasia | |
| HP:0001681 | Angina pectoris | |
| HP:0000739 | Anxiety | |
| HP:0011675 | Arrhythmia | |
| HP:0006510 | Chronic pulmonary obstruction | |
| HP:0000716 | Depression | |
| HP:0002376 | Developmental regression | |
| HP:0000873 | Diabetes insipidus | |
| HP:0002094 | Dyspnea | |
| HP:0001945 | Fever | |
| HP:0100820 | Glomerulopathy | |
| HP:0000822 | Hypertension | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0001004 | Lymphedema | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001297 | Stroke | |
| HP:0002321 | Vertigo | |
| Very rare (<4-1%) | ||
| HP:0000975 | Hyperhidrosis | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20301469[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/324
- This record as JSON: /data/d/324.json