ORPHA:206443
Late-infantile/juvenile Krabbe disease
Synonyms: Krabbe disease, late-onset
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
This disease is described under Krabbe disease
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Late-infantile/juvenile Krabbe disease | Krabbe disease, late-onset |
| fr | Maladie de Krabbe infantile tardive/juvénile | Maladie de Krabbe à début tardif |
| de | Krabbe-Syndrom, spät-infantiles oder juveniles | Krabbe-Syndrom, spät beginnendes |
| es | Enfermedad de Krabbe infantil tardía/juvenil | Enfermedad de Krabbe de inicio tardío |
| it | Malattia di Krabbe tardo-infantile/giovanile | Malattia di Krabbe a esordio tardivo |
| nl | Ziekte van Krabbe, laat infantiele/juveniele vorm | Ziekte van Krabbe, late aanvang |
| pt | Doença de Krabbe da infância tardia/juvenil | |
| pl | Późnodziecięca/młodzieńcza choroba Krabbego | Choroba Krabbego o późnym początku |
| cs | Pozdně infantilní/juvenilní Krabbeho choroba | Krabbeho choroba s pozdním nástupem |
| uk | Пізня інфантильна/ювенільна хвороба Краббе | Хвороба Краббе, пізній початок |
| zh | 晚期婴儿/青少年Krabbe病 | 迟发型Krabbe |
| tr | Geç infantil/jüvenil Krabbe hastalığı | Krabbe hastalığı, geç başlangıçlı |
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 | 0016090 | E | validated | |
| UMLS | C0268252 | 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 (1):
- 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
46 annotations · validated 2024-03-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002922 | Increased CSF protein concentration | |
| HP:0034322 | Reduced galactocerebrosidase activity | |
| Frequent (79-30%) | ||
| HP:0011400 | Abnormal CNS myelination | |
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0000708 | Atypical behavior | |
| HP:0002312 | Clumsiness | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0002376 | Developmental regression | |
| HP:0010846 | EEG with persistent abnormal rhythmic activity | |
| HP:0000565 | Esotropia | |
| HP:0002359 | Frequent falls | |
| HP:0004302 | Functional motor deficit | |
| HP:0001288 | Gait disturbance | |
| HP:0000365 | Hearing impairment | |
| HP:0002505 | Loss of ambulation | |
| HP:0002371 | Loss of speech | |
| HP:0002061 | Lower limb spasticity | |
| HP:0001268 | Mental deterioration | |
| HP:0001270 | Motor delay | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0004466 | Prolonged brainstem auditory evoked potentials | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0001264 | Spastic diplegia | |
| HP:0002313 | Spastic paraparesis | |
| HP:0002493 | Upper motor neuron dysfunction | |
| HP:0000572 | Visual loss | |
| Occasional (29-5%) | ||
| HP:0031006 | Acroparesthesia | |
| HP:0001251 | Ataxia | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0008936 | Axial hypotonia | |
| HP:0000618 | Blindness | |
| HP:0001260 | Dysarthria | |
| HP:0000712 | Emotional lability | |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0011968 | Feeding difficulties | |
| HP:0002301 | Hemiplegia | |
| HP:0010830 | Impaired tactile sensation | |
| HP:0002068 | Neuromuscular dysphagia | |
| HP:0001761 | Pes cavus | |
| HP:0001250 | Seizure | |
| HP:0001350 | Slurred speech | |
| HP:0002445 | Tetraplegia | |
| HP:0001337 | Tremor | |
| HP:0003484 | Upper limb muscle weakness | |
| HP:0000505 | Visual impairment | |
| Very rare (<4-1%) | ||
| HP:0000737 | Irritability | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 20301416[PMID]_24384330[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/206443
- This record as JSON: /data/d/206443.json