eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| krabbe disease | ||||
| Disease ID | 253 |
|---|---|
| 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 | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0023521 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0023521 | krabbe disease | 2 C0085078 | lysosomal storage disease | 2 C0023520 | leukodystrophy | 1 C0442874 | neuropathy | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:40) 199 | AIF1 | 1.572 | DISEASES 347527 | ARSH | 1.737 | DISEASES 627 | BDNF | 1.091 | DISEASES 833 | CARS | 1.12 | DISEASES 388372 | CCL4L1 | 1.586 | DISEASES 1052 | CEBPD | 1.333 | DISEASES 1201 | CLN3 | 1.65 | DISEASES 1203 | CLN5 | 1.547 | DISEASES 1282 | COL4A1 | 1.439 | DISEASES 5476 | CTSA | 2.523 | DISEASES 2319 | FLOT2 | 2.108 | DISEASES 2673 | GFPT1 | 1.06 | DISEASES 3214 | HOXB4 | 2.078 | DISEASES 3295 | HSD17B4 | 1.749 | DISEASES 3482 | IGF2R | 1.121 | DISEASES 3916 | LAMP1 | 2.287 | DISEASES 3920 | LAMP2 | 1.049 | DISEASES 54900 | LAX1 | 1.123 | DISEASES 3980 | LIG3 | 1.162 | DISEASES 4099 | MAG | 2.753 | DISEASES 4155 | MBP | 3.161 | DISEASES 10227 | MFSD10 | 2.898 | DISEASES 64223 | MLST8 | 1.915 | DISEASES 26151 | NAT9 | 1.199 | DISEASES 25983 | NGDN | 1.84 | DISEASES 5053 | PAH | 1.2 | DISEASES 5830 | PEX5 | 3.194 | DISEASES 8399 | PLA2G10 | 2.209 | DISEASES 5320 | PLA2G2A | 1.942 | DISEASES 5329 | PLAUR | 2.67 | DISEASES 5538 | PPT1 | 1.304 | DISEASES 5660 | PSAP | 3.946 | DISEASES 5688 | PSMA7 | 2.868 | DISEASES 5730 | PTGDS | 3.256 | DISEASES 26503 | SLC17A5 | 2.152 | DISEASES 6518 | SLC2A5 | 1.674 | DISEASES 113452 | TMEM54 | 1.686 | DISEASES 7124 | TNF | 2.005 | DISEASES 54209 | TREM2 | 1.181 | DISEASES 51592 | TRIM33 | 1.001 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 253 |
|---|---|
| Disease | krabbe disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:23) HP:0001263 | Global developmental delay HP:0000365 | Hearing impairment HP:0001824 | Weight loss HP:0002205 | Recurrent respiratory infections HP:0001257 | Spasticity HP:0001251 | Ataxia HP:0002676 | Cloverleaf skull HP:0009830 | Peripheral neuropathy HP:0001172 | Abnormality of the thumb HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature HP:0004374 | Hemiplegia/hemiparesis HP:0000407 | Sensorineural hearing impairment HP:0011968 | Feeding difficulties HP:0000708 | Behavioral abnormality HP:0001250 | Seizures HP:0000763 | Sensory neuropathy HP:0001288 | Gait disturbance HP:0003457 | EMG abnormality HP:0001945 | Fever HP:0001939 | Abnormality of metabolism/homeostasis HP:0000505 | Visual impairment HP:0000737 | Irritability HP:0002123 | Generalized myoclonic seizures |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 253 |
|---|---|
| Disease | krabbe disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total 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:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002123 | Generalized myoclonic seizures | MP:0009358 | environmentally induced seizures | seizure activity response due to changes in ambient habitat including room temperature, lighting, sounds, touching, and/ or moving cage |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| HP:0001172 | Abnormality of the thumb | MP:0006241 | abnormal placement of pupils | abnormal location of the pupil so that it is not in the center of the iris |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0002205 | Recurrent respiratory infections | MP:0014182 | decreased respiratory epithelial sodium ion transmembrane transport | decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:23) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002123 | Generalized myoclonic seizures | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0001172 | Abnormality of the thumb | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002205 | Recurrent respiratory infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000708 | Behavioral abnormality | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001288 | Gait disturbance | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0004374 | Hemiplegia/hemiparesis | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000407 | Sensorineural hearing impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001257 | Spasticity | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0011968 | Feeding difficulties | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0002676 | Cloverleaf skull | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000737 | Irritability | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001263 | Global developmental delay | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0003457 | EMG abnormality | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000505 | Visual impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000763 | Sensory neuropathy | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| Disease ID | 253 |
|---|---|
| Disease | krabbe disease |
| Case | (Waiting for update.) |