ORPHA:487
Krabbe disease
Synonyms: GALC deficiency · Galactocerebrosidase deficiency · Galactosylceramidase deficiency · Globoid cell leukodystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
A rare lysosomal disorder that affects the white matter of the central and peripheral nervous systems characterized by neurodegeneration with severity depending on the age of onset (infantile, late-infantile, juvenile, adolescent and adulthood).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Krabbe disease | GALC deficiency · Galactocerebrosidase deficiency · Galactosylceramidase deficiency · Globoid cell leukodystrophy |
| fr | Maladie de Krabbe | Déficit en GALC · Déficit en galactocérébrosidase · Déficit en galactosylcéramidase · Leucodystrophie à cellules globoïdes |
| de | Krabbe-Syndrom | Galaktosylzeramidase-Mangel · Galaktozerebrosidase-Mangel · Globoidzell-Leukodystrophie · Krabbe-Krankheit |
| es | Enfermedad de Krabbe | Deficiencia de GALC · Deficiencia de galactocerebrosidasa · Deficiencia de galactosilceramidasa · Leucodistrofia de células caliciformes |
| it | Malattia di Krabbe | Deficit di GALC · Deficit di galattocerebrosidasi · Deficit di galattosilceramidasi · Leucodistrofia a cellule globoidi |
| nl | Ziekte van Krabbe | GALC-deficiëntie · Galactocerebrosidasedeficiëntie · Galactosylceramidasedeficiëntie · Globoïde cel leukodystrofie |
| pt | Doença de Krabbe | Leucodistrofia de células globóides · Deficiência de galactocerebrosidase |
| pl | Choroba Krabbego | Leukodystrofia globoidalna · Niedobór galaktocerebrydazy · Niedobór galaktozyloceramidazy · Niedobór GALC |
| cs | Krabbeho nemoc | Deficit GALC · Deficit galaktocerebrosidázy · Deficit galaktosylceramidázy · Globoidní leukodystrofie |
| uk | Хвороба Краббе | Дефіцит галактоцереброзидази · Дефіцит галактозилцерамідази · Дефіцит GALC · Глобоїдно-клітинна лейкодистрофія |
| zh | Krabbe病 | 半乳糖神经酰胺酶 |
| tr | Krabbe hastalığı | GALC eksikliği · Globoid hücre lökodistrofisi · Galaktoserebrosidaz eksikliği · Galaktozilseramidaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 245200 | E | validated | |
| OMIM | 611722 | BTNT | validated | |
| ICD-10 | E75.2 | NTBT | inclusion | validated |
| ICD-11 | 8A44.4 | E | specific | validated |
| MONDO | 0009499 | E | validated | |
| MeSH | D007965 | E | validated | |
| UMLS | C0023521 | E | validated | |
| GARD | 6844 | E | validated | |
| MedDRA | 10023492 | 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 (7):
- ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological 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 - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
4
Genes
0 direct · 4 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| GALC | ORPHA:206436Infantile Krabbe disease | Disease-causing germline mutation(s) in | Assessed | HGNC:4115 | ENSG00000054983 | 606890 | 14q31.3 | galactosylceramidase | 20301416[PMID]_23319190[PMID] |
| GALC | ORPHA:206443Late-infantile/juvenile Krabbe disease | Disease-causing germline mutation(s) in | Assessed | HGNC:4115 | ENSG00000054983 | 606890 | 14q31.3 | galactosylceramidase | 20301416[PMID]_23319190[PMID] |
| GALC | ORPHA:206448Adult Krabbe disease | Disease-causing germline mutation(s) in | Assessed | HGNC:4115 | ENSG00000054983 | 606890 | 14q31.3 | galactosylceramidase | 20301416[PMID]_23319190[PMID] |
| PSAP | ORPHA:206436Infantile Krabbe disease | Disease-causing germline mutation(s) in | Assessed | HGNC:9498 | ENSG00000197746 | 176801 | 10q22.1 | prosaposin | 15773042[PMID]_20301416[PMID] |
5
Prevalence and incidence
12 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.327 / 100 000 | United States | Value and class | Validated | 22991292[PMID]_26795590[PMID] |
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Not yet validated | 20301416[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 / 100 000 | France | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.71 / 100 000 | Australia | Value and class | Validated | 9918480[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.35 / 100 000 | Netherlands | Value and class | Validated | 10480370[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.21 / 100 000 | Portugal | Value and class | Validated | 14685153[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.6 / 100 000 | Germany | Value and class | Validated | 9286459[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Turkey | Value and class | Validated | 20490927[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 / 100 000 | Czech Republic | Value and class | Validated | 20490927[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.9 / 100 000 | Sweden | Value and class | Validated | 5409293[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
50 annotations · validated 2024-03-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001172 | Abnormal thumb morphology | |
| HP:0001939 | Abnormality of metabolism/homeostasis | |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | |
| HP:0001251 | Ataxia | |
| HP:0000708 | Atypical behavior | |
| HP:0002676 | Cloverleaf skull | |
| HP:0003457 | EMG abnormality | |
| HP:0011968 | Feeding difficulties | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0034322 | Reduced galactocerebrosidase activity | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000763 | Sensory neuropathy | |
| HP:0001257 | Spasticity | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0003134 | Abnormality of peripheral nerve conduction | |
| HP:0002376 | Developmental regression | |
| HP:0001508 | Failure to thrive | |
| HP:0001945 | Fever | |
| HP:0001288 | Gait disturbance | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0033031 | Hyperpyrexia | |
| HP:0000737 | Irritability | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0001250 | Seizure | |
| HP:0002313 | Spastic paraparesis | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0000618 | Blindness | |
| HP:0002312 | Clumsiness | |
| HP:0025013 | Decerebrate rigidity | |
| HP:0100639 | Erectile dysfunction | |
| HP:0002359 | Frequent falls | |
| HP:0001288 | Gait disturbance | |
| HP:0001188 | Hand clenching | |
| HP:0100963 | Hyperesthesia | |
| HP:0001265 | Hyporeflexia | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0001324 | Muscle weakness | |
| HP:0001336 | Myoclonus | |
| HP:0002179 | Opisthotonus | |
| HP:0000648 | Optic atrophy | |
| HP:0001761 | Pes cavus | |
| HP:0002421 | Poor head control | |
| HP:0002878 | Respiratory failure | |
| HP:0030211 | Slow pupillary light response | |
| HP:0002445 | Tetraplegia | |
| HP:0000020 | Urinary incontinence | |
| HP:0001824 | Weight loss | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 24384330[PMID]_28674989[PMID]_27638597[PMID]_20301416[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/487
- This record as JSON: /data/d/487.json