ORPHA:206448
Adult Krabbe disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
This disease is described under Krabbe disease
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adult Krabbe disease | |
| fr | Maladie de Krabbe de l'adulte | |
| de | Krabbe-Syndrom, mit Beginn im Erwachsenenalter | |
| es | Enfermedad de Krabbe del adulto | |
| it | Malattia di Krabbe a esordio nell'età adulta | |
| nl | Ziekte van Krabbe, volwassen vorm | |
| pt | Doença de Krabbe de apresentação no adulto | |
| pl | Choroba Krabbego dorosłych | |
| cs | Krabbeho choroba dospělých | Adultní Krabbeho choroba |
| uk | Хвороба Краббе у дорослих | |
| zh | 成年Krabbe病 | |
| tr | Yetişkin Krabbe hastalığı |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 245200 | NTBT | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | 8A44.4 | NTBT | index | validated |
| MONDO | 0016091 | E | validated | |
| UMLS | C5680793 | 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 (2):
- ORPHA:98544Cerebral lipidosis with dementia
rare genetic diseases; rare neurological diseases - ORPHA:487Krabbe disease
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GALC | Disease-causing germline mutation(s) in | Assessed | HGNC:4115 | ENSG00000054983 | 606890 | 14q31.3 | galactosylceramidase | 20301416[PMID]_23319190[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
44 annotations · validated 2024-03-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0034322 | Reduced galactocerebrosidase activity | |
| HP:0002493 | Upper motor neuron dysfunction | |
| Frequent (79-30%) | ||
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0002418 | Abnormality of midbrain morphology | |
| HP:0007361 | Abnormality of the pons | |
| HP:0001251 | Ataxia | |
| HP:0003487 | Babinski sign | |
| HP:0007305 | CNS demyelination | |
| HP:0031993 | Hoffmann sign | |
| HP:0006801 | Hyperactive deep tendon reflexes | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0007199 | Progressive spastic paraparesis | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0011441 | Abnormality of the medulla oblongata | |
| HP:0031006 | Acroparesthesia | |
| HP:0002312 | Clumsiness | |
| HP:0000726 | Dementia | |
| HP:0002353 | EEG abnormality | |
| HP:0002359 | Frequent falls | |
| HP:0004302 | Functional motor deficit | |
| HP:0001288 | Gait disturbance | |
| HP:0010830 | Impaired tactile sensation | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0001268 | Mental deterioration | |
| HP:0002062 | Morphological abnormality of the pyramidal tract | |
| HP:0011096 | Peripheral demyelination | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0002344 | Progressive neurologic deterioration | |
| HP:0004466 | Prolonged brainstem auditory evoked potentials | |
| HP:0002650 | Scoliosis | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0003484 | Upper limb muscle weakness | |
| HP:0000572 | Visual loss | |
| Very rare (<4-1%) | ||
| HP:0002136 | Broad-based gait | |
| HP:0100639 | Erectile dysfunction | |
| HP:0002301 | Hemiplegia | |
| HP:0002371 | Loss of speech | |
| HP:0002492 | Morphological abnormality of the corticospinal tract | |
| HP:0001761 | Pes cavus | |
| HP:0002273 | Tetraparesis | |
| HP:0000020 | Urinary incontinence | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 32965986[PMID]_24384330[PMID]_27638597[PMID]_20301416[PMID]_29951496[PMID]_31337714[PMID]_24384330[PMID]_30899093[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/206448
- This record as JSON: /data/d/206448.json