Krabbe disease

General Information (adopted from Orphanet):

Synonyms, Signs: GALC deficiency
Galactosylceramidase deficiency
Galactocerebrosidase deficiency
Globoid cell leukodystrophy
Number of Symptoms 45
OrphanetNr: 487
OMIM Id: 245200
611722
ICD-10: E75.2
UMLs:
MeSH:
MedDRA: 10023492
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
Childhood
Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic neurodegenerative disease
 -Rare genetic disease
Leukodystrophy
 -Rare genetic disease
 -Rare neurologic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease
Rare hereditary metabolic disease with peripheral neuropathy
 -Rare genetic disease
 -Rare neurologic disease
Rare neurodegenerative disease
 -Rare neurologic disease
Sphingolipidosis
 -Rare genetic disease
Sphingolipidosis with epilepsy
 -Rare neurologic disease
Unclassified primitive or secondary maculopathy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000639) Nystagmus 555 / 7739
2
 (HPO:0007928) Abnormal flash visual evoked potentials 2 / 7739
3
 (HPO:0000648) Optic atrophy 238 / 7739
4
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
5
 (HPO:0000618) Blindness 124 / 7739
6
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
7
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
8
 (HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
9
 (HPO:0002376) Developmental regression 74 / 7739
10
 (HPO:0002353) EEG abnormality 188 / 7739
11
 (HPO:0002191) Progressive spasticity 12 / 7739
12
 (HPO:0002333) Motor deterioration 7 / 7739
13
 (HPO:0009830) Peripheral neuropathy Very frequent [Orphanet] 206 / 7739
14
 (HPO:0000762) Decreased nerve conduction velocity 36 / 7739
15
 (HPO:0011442) Abnormality of central motor function Very frequent [Orphanet] 76 / 7739
16
 (HPO:0006801) Hyperactive deep tendon reflexes 21 / 7739
17
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
18
 (HPO:0007141) Sensorimotor neuropathy 27 / 7739
19
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
20
 (HPO:0011096) Peripheral demyelination 28 / 7739
21
 (HPO:0003474) Sensory impairment Very frequent [Orphanet] 54 / 7739
22
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
23
 (HPO:0004374) Hemiplegia/hemiparesis Frequent [Orphanet] 158 / 7739
24
 (HPO:0002922) Increased CSF protein 27 / 7739
25
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
26
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
27
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
28
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
29
 (HPO:0002013) Vomiting 191 / 7739
30
 (HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Very frequent [Orphanet] 55 / 7739
31
 (HPO:0001508) Failure to thrive 454 / 7739
32
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
33
 (HPO:0001973) Autoimmune thrombocytopenia 18 / 7739
34
 (HPO:0001954) Episodic fever 27 / 7739
35
 (HPO:0001939) Abnormality of metabolism/homeostasis Very frequent [Orphanet] 328 / 7739
36
 (HPO:0001945) Fever Frequent [Orphanet] 218 / 7739
37
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
38
 (HPO:0001252) Muscular hypotonia 990 / 7739
39
 (HPO:0003457) EMG abnormality Very frequent [Orphanet] 78 / 7739
40
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
41
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
42
 (HPO:0007305) CNS demyelination 21 / 7739
43
 (HPO:0002180) Neurodegeneration 31 / 7739
44
 (HPO:0002506) Diffuse cerebral atrophy 9 / 7739
45
 (HPO:0000238) Hydrocephalus 278 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: