PedAM

Pediatric Disease Annotations & Medicines


	krabbe disease

Disease ID	171
Disease	krabbe disease
Definition	An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.
Synonym	beta galactocerebrosidase deficiency beta-galactosidase deficiencies, galactosylceramide beta-galactosidase deficiency, galactosylceramide brain, sclerosis, globoid cell cell leukodystrophies, globoid cell leukodystrophy, globoid cell leukoencephalopathies, globoid cell leukoencephalopathy, globoid deficiencies, galactocerebrosidase deficiencies, galactosylceramide beta-galactosidase deficiencies, galc deficiency disease, galactosylceramidase deficiency disease, galactosylceramide-beta-galactosidase deficiency diseases, galactosylceramidase deficiency diseases, galactosylceramide-beta-galactosidase deficiency, galactocerebrosidase deficiency, galactosylceramide beta-galactosidase deficiency, galc diffuse globoid body sclerosis diffuse globoid cell cerebral sclerosis disease krabbe disease krabbes disease, galactosylceramidase deficiency disease, galactosylceramide-beta-galactosidase deficiency diseases krabbe diseases, galactosylceramidase deficiency diseases, galactosylceramide-beta-galactosidase deficiency galactocerebrosidase deficiencies galactocerebrosidase deficiency galactocerebroside beta-galactosidase deficiency galactosyl ceramide lipidosis galactosylceramidase defic dis galactosylceramidase deficiency disease galactosylceramidase deficiency diseases galactosylceramide beta galactosidase deficiency galactosylceramide beta galactosidase deficiency disease galactosylceramide beta-galactosidase deficiencies galactosylceramide beta-galactosidase deficiency galactosylceramide beta-galactosidase deficiency (disorder) galactosylceramide lipidosis galactosylceramide-beta-galactosidase deficiency disease galactosylceramide-beta-galactosidase deficiency diseases galactosylcerebrosidase deficiency galactosylsphingosine lipidosis galc galc deficiencies galc deficiency gcl gcl - globoid cell leucodystrophy gld globoid body sclerosis, diffuse globoid cell leucodystrophy globoid cell leukodystrophies globoid cell leukodystrophy globoid cell leukoencephalopathies globoid cell leukoencephalopathy globoid leukodystrophies globoid leukodystrophy krabbe dis krabbe leucodystrophy krabbe leukodystrophy krabbe's disease krabbe's leukodystrophy krabbes dis krabbes disease krabbes leukodystrophy leukodystrophies, globoid leukodystrophies, globoid cell leukodystrophy krabbe leukodystrophy, globoid leukodystrophy, globoid cell leukodystrophy, globoid cell [disease/finding] leukodystrophy, krabbe leukodystrophy, krabbe's leukoencephalopathies, globoid cell leukoencephalopathy, globoid cell psychosine lipidosis
Orphanet	ORPHANET:487
OMIM	OMIM:245200 OMIM:606890
DOID	DOID:10587
ICD10	ICD10CM:E75.23
UMLS	C0023521
MeSH	D007965
SNOMED-CT	SNOMEDCT_US_2016_09_01:192782005
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) GALC \| 2581 \| CLINVAR;CTD_human;OMIM;GHR;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2581 \| GALC \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:76) 4074 \| M6PR \| DISEASES 8935 \| SKAP2 \| DISEASES 84245 \| MRI1 \| DISEASES 4320 \| MMP11 \| DISEASES 410 \| ARSA \| DISEASES 3199 \| HOXA2 \| DISEASES 6348 \| CCL3 \| DISEASES 3196 \| TLX2 \| DISEASES 968 \| CD68 \| DISEASES 6351 \| CCL4 \| DISEASES 2670 \| GFAP \| DISEASES 4608 \| MYBPH \| DISEASES 3832 \| KIF11 \| DISEASES 2581 \| GALC \| DISEASES 7528 \| YY1 \| DISEASES 10133 \| OPTN \| DISEASES 3938 \| LCT \| DISEASES 175 \| AGA \| DISEASES 8477 \| GPR65 \| DISEASES 3073 \| HEXA \| DISEASES 285362 \| SUMF1 \| DISEASES 5921 \| RASA1 \| DISEASES 5018 \| OXA1L \| DISEASES 563 \| AZGP1 \| DISEASES 4760 \| NEUROD1 \| DISEASES 5354 \| PLP1 \| DISEASES 2548 \| GAA \| DISEASES 2720 \| GLB1 \| DISEASES 8061 \| FOSL1 \| DISEASES 23209 \| MLC1 \| DISEASES 836 \| CASP3 \| DISEASES 7368 \| UGT8 \| DISEASES 5319 \| PLA2G1B \| DISEASES 2629 \| GBA \| DISEASES 6448 \| SGSH \| DISEASES 2744 \| GLS \| DISEASES 3214 \| HOXB4 \| DISEASES 10227 \| MFSD10 \| DISEASES 3916 \| LAMP1 \| DISEASES 5329 \| PLAUR \| DISEASES 26503 \| SLC17A5 \| DISEASES 3482 \| IGF2R \| DISEASES 26151 \| NAT9 \| DISEASES 51592 \| TRIM33 \| DISEASES 1201 \| CLN3 \| DISEASES 2673 \| GFPT1 \| DISEASES 5688 \| PSMA7 \| DISEASES 5730 \| PTGDS \| DISEASES 5476 \| CTSA \| DISEASES 54209 \| TREM2 \| DISEASES 113452 \| TMEM54 \| DISEASES 5320 \| PLA2G2A \| DISEASES 1282 \| COL4A1 \| DISEASES 199 \| AIF1 \| DISEASES 6518 \| SLC2A5 \| DISEASES 1203 \| CLN5 \| DISEASES 3980 \| LIG3 \| DISEASES 833 \| CARS \| DISEASES 347527 \| ARSH \| DISEASES 4155 \| MBP \| DISEASES 4099 \| MAG \| DISEASES 2319 \| FLOT2 \| DISEASES 5660 \| PSAP \| DISEASES 64223 \| MLST8 \| DISEASES 25983 \| NGDN \| DISEASES 1052 \| CEBPD \| DISEASES 8399 \| PLA2G10 \| DISEASES 5538 \| PPT1 \| DISEASES 7124 \| TNF \| DISEASES 388372 \| CCL4L1 \| DISEASES 54900 \| LAX1 \| DISEASES 5830 \| PEX5 \| DISEASES 3920 \| LAMP2 \| DISEASES 627 \| BDNF \| DISEASES 3295 \| HSD17B4 \| DISEASES 5053 \| PAH \| DISEASES
Locus	(Waiting for update.)

Disease ID	171
Disease	krabbe disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:23) HP:0000407 \| Sensorineural hearing impairment HP:0001824 \| Weight loss HP:0002676 \| Cloverleaf skull HP:0000708 \| Behavioral abnormality HP:0009830 \| Peripheral neuropathy HP:0001263 \| Global developmental delay HP:0001945 \| Fever HP:0004374 \| Hemiplegia/hemiparesis HP:0001251 \| Ataxia HP:0001250 \| Seizures HP:0000365 \| Hearing impairment HP:0001257 \| Spasticity HP:0000737 \| Irritability HP:0000505 \| Visual impairment HP:0003457 \| EMG abnormality HP:0010318 \| Aplasia/Hypoplasia of the abdominal wall musculature HP:0011968 \| Feeding difficulties HP:0001172 \| Abnormality of the thumb HP:0001939 \| Abnormality of metabolism/homeostasis HP:0002123 \| Generalized myoclonic seizures HP:0002205 \| Recurrent respiratory infections HP:0000763 \| Sensory neuropathy HP:0001288 \| Gait disturbance
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0001257 \| Spasticity \| 1

Disease ID	171
Disease	krabbe disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C2718068 \| beta-galactosidase deficiency C0031117 \| peripheral neuropathy C0030214 \| palatal myoclonus C0014550 \| myoclonic seizures
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:26)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs11623	NA	2581	GALC	umls:C0023521	CLINVAR	NA	0.463006546	NA	GALC	14	87992996	C	T,A
rs121908010	NA	2581	GALC	umls:C0023521	CLINVAR	NA	0.463006546	NA	GALC	14	87963392	C	A
rs147313927	NA	2581	GALC	umls:C0023521	CLINVAR	NA	0.463006546	NA	GALC	14	87986597	T	C,G
rs199847983	NA	2581	GALC	umls:C0023521	CLINVAR	NA	0.463006546	NA	GALC	14	87968386	C	T
rs200378205	NA	2581	GALC	umls:C0023521	CLINVAR	NA	0.463006546	NA	GALC	14	87945631	C	T
rs34134328	10833326	2581	GALC	umls:C0023521	UNIPROT	Mutations in the gene for the lysosomal enzyme galactocerebrosidase (GALC) result in low enzymatic activity and decreased ability to degrade galactolipids found almost exclusively in myelin.	0.463006546	2000	GALC	14	87947814	G	C
rs374635469	NA	2581	GALC	umls:C0023521	CLINVAR	NA	0.463006546	NA	GALC	14	87986543	C	G,T
rs387906952	NA	2581	GALC	umls:C0023521	CLINVAR	NA	0.463006546	NA	GALC	14	87945593	C	T
rs387906953	NA	2581	GALC	umls:C0023521	CLINVAR	NA	0.463006546	NA	GALC	14	87941433	A	C
rs387906954	NA	2581	GALC	umls:C0023521	CLINVAR	NA	0.463006546	NA	GALC	14	87965585	G	C
rs387906955	NA	2581	GALC	umls:C0023521	CLINVAR	NA	0.463006546	NA	GALC	14	87993044	C	T
rs398123175	NA	2581	GALC	umls:C0023521	CLINVAR	NA	0.463006546	NA	GALC	14	87963382	A	C
rs398123177	NA	2581	GALC	umls:C0023521	CLINVAR	NA	0.463006546	NA	GALC	14	87968381	A	G
rs748573754	NA	2581	GALC	umls:C0023521	CLINVAR	NA	0.463006546	NA	GALC	14	87945566	C	T
rs749893889	NA	2581	GALC	umls:C0023521	CLINVAR	NA	0.463006546	NA	GALC	14	87945632	G	A
rs750524447	NA	2581	GALC	umls:C0023521	CLINVAR	NA	0.463006546	NA	GALC	14	87968334	C	T
rs752537626	NA	2581	GALC	umls:C0023521	CLINVAR	NA	0.463006546	NA	GALC	14	87941529	T	G
rs756690487	NA	2581	GALC	umls:C0023521	CLINVAR	NA	0.463006546	NA	GALC	14	87986600	C	T
rs761550284	NA	2581	GALC	umls:C0023521	CLINVAR	NA	0.463006546	NA	GALC	14	87984487	C	T
rs766310671	NA	2581	GALC	umls:C0023521	CLINVAR	NA	0.463006546	NA	GALC	14	87976452	G	A
rs771111145	NA	2581	GALC	umls:C0023521	CLINVAR	NA	0.463006546	NA	GALC	14	87988514	G	A
rs771489305	NA	2581	GALC	umls:C0023521	CLINVAR	NA	0.463006546	NA	GALC	14	87947745	T	-
rs775277935	NA	2581	GALC	umls:C0023521	CLINVAR	NA	0.463006546	NA	GALC	14	87986501	T	-
rs786204454	NA	2581	GALC	umls:C0023521	CLINVAR	NA	0.463006546	NA	GALC	14	87965583	A	-
rs786204618	NA	2581	GALC	umls:C0023521	CLINVAR	NA	0.463006546	NA	GALC	14	87982227	G	T
rs794727116	NA	2581	GALC	umls:C0023521	CLINVAR	NA	0.463006546	NA	GALC	14	87945680	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)