ORPHA:206436
Infantile Krabbe disease
Synonyms: Krabbe disease, classic form · Krabbe disease, early-onset
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
This disease is described under Krabbe disease
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile Krabbe disease | Krabbe disease, classic form · Krabbe disease, early-onset |
| fr | Maladie de Krabbe infantile | Maladie de Krabbe classique · Maladie de Krabbe à début précoce |
| de | Krabbe-Syndrom, infantile Form | Krabbe-Syndrom, früh beginnendes · Krabbe-Syndrom, klassische Form |
| es | Enfermedad de Krabbe infantil | Enfermedad de Krabbe clásica · Enfermedad de Krabbe de inicio precoz |
| it | Malattia di Krabbe, forma infantile | Malattia di Krabbe a esordio precoce · Malattia di Krabbe, forma classica |
| nl | Ziekte van Krabbe, infantiele vorm | Ziekte van Krabbe, klassieke vorm · Ziekte van Krabbe, vroege aanvang |
| pt | Doença de Krabbe da infância | |
| pl | Dziecięca choroba Krabbego | Choroba Krabbego o wczesnym początku · Choroba Krabbego, forma klasyczna |
| cs | Infantilní Krabbeho choroba | Krabbeho choroba, klasická forma · Krabbeho choroba s časným nástupem |
| uk | Інфантильна хвороба Краббе | Хвороба Краббе, класична форма · Хвороба Краббе, ранній початок |
| zh | 婴儿Krabbe病 | 典型Krabbe病 |
| tr | İnfantil Krabbe hastalığı | Krabbe hastalığı, erken başlangıçlı · Krabbe hastalığı, klasik form |
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 | 0016089 | E | validated | |
| UMLS | C0751273 | 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
2 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] |
| PSAP | Disease-causing germline mutation(s) in | Assessed | HGNC:9498 | ENSG00000197746 | 176801 | 10q22.1 | prosaposin | 15773042[PMID]_20301416[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.254 / 100 000 | United States | Value and class | Validated | 26795590[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_29391017[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
70 annotations · validated 2024-03-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0004302 | Functional motor deficit | |
| HP:0033031 | Hyperpyrexia | |
| HP:0030215 | Inappropriate crying | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0000737 | Irritability | |
| HP:0001268 | Mental deterioration | |
| HP:0002344 | Progressive neurologic deterioration | |
| HP:0034322 | Reduced galactocerebrosidase activity | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0001257 | Spasticity | |
| HP:0001955 | Unexplained fevers | |
| Frequent (79-30%) | ||
| HP:0002518 | Abnormal periventricular white matter morphology | |
| HP:0008936 | Axial hypotonia | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0012706 | Elevated brain choline level by MRS | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001188 | Hand clenching | |
| HP:0002061 | Lower limb spasticity | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0004466 | Prolonged brainstem auditory evoked potentials | |
| HP:0002361 | Psychomotor deterioration | |
| HP:0012708 | Reduced brain N-acetyl aspartate level by MRS | |
| HP:0031161 | Reduced brain glutamate level by MRS | |
| Occasional (29-5%) | ||
| HP:0031860 | Abnormal heart rate variability | |
| HP:0011448 | Ankle clonus | |
| HP:0000618 | Blindness | |
| HP:0004326 | Cachexia | |
| HP:0025013 | Decerebrate rigidity | |
| HP:0011444 | Decorticate rigidity | |
| HP:0040195 | Decreased head circumference | |
| HP:0002506 | Diffuse cerebral atrophy | |
| HP:0001298 | Encephalopathy | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0000238 | Hydrocephalus | |
| HP:0100963 | Hyperesthesia | |
| HP:0001347 | Hyperreflexia | |
| HP:0007103 | Hypointensity of cerebral white matter on MRI | |
| HP:0001265 | Hyporeflexia | |
| HP:0040194 | Increased head circumference | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0003394 | Muscle spasm | |
| HP:0003552 | Muscle stiffness | |
| HP:0001324 | Muscle weakness | |
| HP:0001336 | Myoclonus | |
| HP:0011470 | Nasogastric tube feeding in infancy | |
| HP:0002179 | Opisthotonus | |
| HP:0000648 | Optic atrophy | |
| HP:0000613 | Photophobia | |
| HP:0002421 | Poor head control | |
| HP:0002719 | Recurrent infections | |
| HP:0002098 | Respiratory distress | |
| HP:0002878 | Respiratory failure | |
| HP:0001250 | Seizure | |
| HP:0003547 | Shoulder girdle muscle weakness | |
| HP:0030211 | Slow pupillary light response | |
| HP:0005968 | Temperature instability | |
| HP:0000572 | Visual loss | |
| HP:0002013 | Vomiting | |
| HP:0001824 | Weight loss | |
| Very rare (<4-1%) | ||
| HP:0010729 | Cherry red spot of the macula | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0001601 | Laryngomalacia | |
| HP:0000467 | Neck muscle weakness | |
| HP:0001264 | Spastic diplegia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 24384330[PMID]_27638597[PMID]_20301416[PMID]_29391017[PMID]_29933067[PMID]_31053700[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/206436
- This record as JSON: /data/d/206436.json