ORPHA:349
Fucosidosis
Synonyms: Alpha-L-fucosidase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare lysosomal storage disease characterized by widespread tissue buildup of glycolipids and oligosaccharides rich in fucose. Patients present with broad clinical characteristics such as intellectual disability, developmental delay associated with psychomotor regression and bone abnormalities, visceromegaly, hyperhidrosis, and dermatological abnormalities.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fucosidosis | Alpha-L-fucosidase deficiency |
| fr | Fucosidose | Déficit en alpha-L-fucosidase |
| de | Fukosidose | Alpha-L-Fucosidase-Mangel |
| es | Fucosidosis | Deficiencia de alfa-L-fucosidasa |
| it | Fucosidosi | Deficit di alfa-L-fucosidasi |
| nl | Fucosidose | Deficiëntie van alfa-L-fucosidase |
| pt | Fucosidose | Deficiência de alfa-L-fucosidase |
| pl | Fukozydoza | Niedobór alfa-L-fukozydazy |
| cs | Fukosidóza | Deficit alfa-L-fukosidázy |
| uk | Фукозидоз | Дефіцит альфа-L-фукозидази |
| zh | 岩藻糖苷贮积病 | α-L-岩藻糖苷酶缺乏症 |
| tr | Fukosidoz | Alfa-L-fukozidaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 230000 | E | validated | |
| ICD-10 | E77.1 | NTBT | inclusion | validated |
| ICD-11 | 5C56.21 | NTBT | index | validated |
| MONDO | 0009254 | E | validated | |
| MeSH | D005645 | E | validated | |
| UMLS | C0016788 | E | validated | |
| GARD | 6473 | 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 (5):
- ORPHA:217581Lysosomal disease with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - 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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FUCA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4006 | ENSG00000179163 | 612280 | 1p36.11 | alpha-L-fucosidase 1 | 10094192[PMID] |
5
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 161 cases | Worldwide | Case(s) | Validated | 36082656[PMID] | |
| Point prevalence | <1 / 1 000 000 | 0.06 / 100 000 | Worldwide | Value and class | Validated | 33266441[PMID]_31886074[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.1 / 100 000 | Sweden | Value and class | Validated | 25274184[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.63 / 100 000 | Cuba | Value and class | Validated | 27706744[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
31 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0008430 | Anterior beaking of lumbar vertebrae | |
| HP:0000248 | Brachycephaly | |
| HP:0000280 | Coarse facial features | |
| HP:0000943 | Dysostosis multiplex | |
| HP:0001508 | Failure to thrive | |
| HP:0005595 | Generalized hyperkeratosis | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0002240 | Hepatomegaly | |
| HP:0000975 | Hyperhidrosis | |
| HP:0000821 | Hypothyroidism | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002808 | Kyphosis | |
| HP:0100578 | Lipoatrophy | |
| HP:0008155 | Mucopolysacchariduria | |
| HP:0011220 | Prominent forehead | |
| Frequent (79-30%) | ||
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0005264 | Abnormality of the gallbladder | |
| HP:0007957 | Corneal opacity | |
| HP:0003199 | Decreased muscle mass | |
| HP:0001252 | Hypotonia | |
| HP:0001250 | Seizure | |
| HP:0002510 | Spastic tetraplegia | |
| HP:0001257 | Spasticity | |
| HP:0011276 | Vascular skin abnormality | |
| Occasional (29-5%) | ||
| HP:0001597 | Abnormal nail morphology | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001063 | Acrocyanosis | |
| HP:0001640 | Cardiomegaly | |
Run the differential on the 12 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/349
- This record as JSON: /data/d/349.json