Fabry disease - CISMeF

Preferred Label : Fabry disease;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Angiokeratoma corporis diffusum; Anderson-fabry disease; Hereditary dystopic lipidosis; Alpha-galactosidase a deficiency; Gla deficiency; Ceramide trihexosidase deficiency;

Included titles and symbols : Fabry disease, cardiac variant;

Description : Fabry disease is an X-linked inborn error of glycosphingolipid catabolism resulting from deficient or absent activity of the lysosomal enzyme alpha-galactosidase A. This enzymatic defect leads to the systemic accumulation of globotriaoslyceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes of vessels, nerves, tissues, and organs throughout the body (Nance et al., 2006). The disorder is a systemic disease, manifest as progressive renal failure, cardiac disease, cerebrovascular disease, small-fiber peripheral neuropathy, and skin lesions, among other abnormalities (Schiffmann, 2009). An atypical variant of Fabry disease has been reported in which cardiac disease, specifically left ventricular hypertrophy, with or without renal failure, develops in the sixth decade of life. These patients have residual GLA activity (Nakao et al., 1995; Nakao et al., 2003). Although previously considered an X-linked recessive disorder, Wang et al. (2007) found that heterozygous women with Fabry disease experience significant life-threatening conditions requiring medical treatment and intervention. Thus, heterozygous Fabry women should not be called carriers, as this term underestimates the seriousness of the disease in these patients. Clarke (2007) and Schiffmann (2009) provided detailed reviews of Fabry disease.;

Inheritance : X-linked;

Molecular basis : Caused by mutation in alpha-galactosidase A gene (GLA, 300644.0001);

Laboratory abnormalities : Proteinuria; Increased plasma globotriaosylsphingosine (lyso-GB3); Increased level of globotriaosylceramide (GB3) in plasma and urinary sediment; Intracellular glycosphingolipid deposition in all tissues of the body; Alpha-galactosidase A deficiency in plasma, leukocytes, or fibroblasts;

Prefixed ID : #301500;

Details

Origin ID

301500;

UMLS CUI

C0002986;

Automatic exact mappings (from CISMeF team)
- fabry disease, cardiac variant [MeSH concept]
- fabry disease, cardiac variant [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Alpha galactosidase A deficiency [MedDRA LLT]
- Angiokeratoma corporis diffusum [HPO term]
- Angiokeratoma corporis diffusum universale [MedDRA LLT]
- Deficiency of alpha-galactosidase (disorder) [SNOMED CT concept]
- Fabry Disease [NCIt concept]
- Fabry disease [PASCAL descriptor]
- Fabry disease [DO Concept]
- Fabry disease [Disease (Nov.)]
- Fabry disease [ICD-11 Sub-sub category]
- Fabry disease [ORDO Disease]
- Fabry disease [LOINC component]
- Fabry's disease [MedDRA Preferred Term]
- Fabry's disease (disorder) [SNOMED CT concept]
- fabry disease [MeSH Descriptor]
- fabry disease [MeSH concept]
- fabry's disease [SNOMED Notion]
DO Cross reference
- Fabry disease [DO Concept]
Genes related to phenotype
- Galactosidase, alpha [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Abnormal autonomic nervous system physiology [HPO term]
- Abnormality of cardiac conduction [HPO term]
- Abnormality of the hand [HPO term]
- Airway obstruction [HPO term]
- Anemia [HPO term]
- Angina pectoris [HPO term]
- Angiokeratoma [HPO term]
- Arrhythmia [HPO term]
- Congestive heart failure [HPO term]
- Corneal dystrophy [HPO term]
- Delayed puberty [HPO term]
- Diarrhea [HPO term]
- Elevated circulating globotriaosylceramide concentration [HPO term]
- Fasciculations [HPO term]
- Hypertension [HPO term]
- Hypohidrosis [HPO term]
- Juvenile onset [HPO term]
- Left ventricular hypertrophy [HPO term]
- Left ventricular wall hypertrophy [HPO term]
- Lipiduria [HPO term]
- Lymphedema [HPO term]
- Mild obstructive lung disease [HPO term]
- Muscle spasm [HPO term]
- Myocardial infarction [HPO term]
- Nausea [HPO term]
- Paresthesia [HPO term]
- Proteinuria [HPO term]
- Renal insufficiency [HPO term]
- Seizure [HPO term]
- Tenesmus [HPO term]
- Transient ischemic attack [HPO term]
- Urinary mulberry cells [HPO term]
- Ventricular septal hypertrophy [HPO term]
- Vomiting [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Fabry disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alpha galactosidase A deficiency [MedDRA LLT]
- Angiokeratoma Corporis Diffusum [NCIt concept]
- Angiokeratoma corporis diffusum [HPO term]
- Angiokeratoma corporis diffusum universale [MedDRA LLT]
- Deficiency of alpha-galactosidase (disorder) [SNOMED CT concept]
- Fabry Disease [NCIt concept]
- Fabry disease [ORDO Disease]
- Fabry disease [LOINC component]
- Fabry disease [DO Concept]
- Fabry disease [PASCAL descriptor]
- Fabry disease [Disease (Nov.)]
- Fabry disease [ICD-11 Sub-sub category]
- Fabry's disease [MedDRA Preferred Term]
- Fabry's disease (disorder) [SNOMED CT concept]
- fabry disease [MeSH Descriptor]
- fabry disease [MeSH concept]
- fabry's disease [SNOMED Notion]
Validated automatic mappings to BTNT
- Angiokeratoma Corporis Diffusum [NCIt concept]
- Angiokeratoma corporis diffusum [ICD-11 More detail]

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