PEERB
MCID: ENC067
MIFTS: 35

Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis (PEERB)

Categories: Genetic diseases

Aliases & Classifications for Encephalopathy, Progressive, Early-Onset, with Episodic...

MalaCards integrated aliases for Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis:

Name: Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 58 76 6
Rhabdomyolysis 45 17
Peerb 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
progressive disorder
two unrelated patients have been reported (last curated february 2019)
episodic exacerbation associated with illness


Classifications:



External Ids:

OMIM 58 618331
MedGen 43 CN258216

Summaries for Encephalopathy, Progressive, Early-Onset, with Episodic...

UniProtKB/Swiss-Prot : 76 Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis: An autosomal recessive disease characterized by progressive encephalopathy exacerbated by febrile illness and associated with severe neurodevelopmental delay, episodes of rhabdomyolysis, developmental regression, epilepsy and tetraplegia.

MalaCards based summary : Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis, also known as rhabdomyolysis, is related to acyl-coa dehydrogenase, very long-chain, deficiency of and phosphoglycerate kinase deficiency. An important gene associated with Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis is TRAPPC2L (Trafficking Protein Particle Complex 2 Like), and among its related pathways/superpathways are Metabolism and AMPK Enzyme Complex Pathway. Affiliated tissues include prostate, thyroid and myeloid, and related phenotypes are Decreased viability and Decreased viability

Description from OMIM: 618331

Related Diseases for Encephalopathy, Progressive, Early-Onset, with Episodic...

Diseases related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 479, show less)
# Related Disease Score Top Affiliating Genes
1 acyl-coa dehydrogenase, very long-chain, deficiency of 32.4 ACADVL CPT2
2 phosphoglycerate kinase deficiency 31.9 PFKM PYGM
3 malignant hyperthermia 31.7 CPT2 MB PIK3C2A RYR1 SCN4A
4 neuroleptic malignant syndrome 31.5 CHKB MB PIK3C2A RYR1
5 myoglobinuria, recurrent 31.4 ACADVL CPT2 PYGM
6 myoglobinuria 30.8 ACADVL CPT2 MB PFKM PIK3C2A PYGM
7 muscle disorders 30.6 PIK3C2A RYR1
8 compartment syndrome 30.5 CHKB MB PIK3C2A
9 glycogen storage disease v 30.4 AMPD1 CHKB CPT2 MB PFKM PYGM
10 carnitine palmitoyltransferase ii deficiency, infantile 30.2 ACADVL CPT2
11 malignant hyperthermia susceptibility 30.1 RYR1 SCN4A
12 myositis 30.1 CHKB MB PIK3C2A
13 disseminated intravascular coagulation 30.0 MB PIK3C2A
14 plexopathy 30.0 MB PIK3C2A
15 gas gangrene 29.9 MB PIK3C2A
16 multiple acyl-coa dehydrogenase deficiency 29.7 ACADVL CPT2
17 pericardial effusion 29.6 ACADVL CHKB PIK3C2A
18 acute kidney failure 29.6 MB PIK3C2A
19 virus associated hemophagocytic syndrome 29.6 MB PIK3C2A
20 hypokalemic periodic paralysis, type 1 29.4 RYR1 SCN4A
21 acute myocardial infarction 29.3 CHKB MB PIK3C2A
22 coronary artery anomaly 29.0 HMGCR MB PIK3C2A
23 myocardial infarction 29.0 CHKB HMGCR MB PIK3C2A
24 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 12.5
25 tango2-related metabolic encephalopathy and arrhythmias 12.0
26 myoglobinuria, acute recurrent, autosomal recessive 11.8
27 mitochondrial trifunctional protein deficiency 11.6
28 hypophosphatemia 11.3
29 myopathy due to myoadenylate deaminase deficiency 11.3
30 marinesco-sjogren syndrome 11.3
31 congenital cataracts, facial dysmorphism, and neuropathy 11.3
32 glycogen storage disease xii 11.2
33 malignant hyperthermia 1 11.1
34 central core disease of muscle 10.9
35 malignant hyperthermia 2 10.9
36 malignant hyperthermia 3 10.9
37 carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced 10.9
38 myopathy with lactic acidosis, hereditary 10.9
39 phosphoglycerate kinase 1 deficiency 10.9
40 malignant hyperthermia 4 10.9
41 malignant hyperthermia 5 10.9
42 malignant hyperthermia 6 10.9
43 congenital disorder of glycosylation, type it 10.9
44 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 10.9
45 myopathy - thyrotoxic 10.9
46 influenza 10.4
47 myopathy 10.4
48 hypothyroidism 10.4
49 hypokalemia 10.3
50 carnitine deficiency, systemic primary 10.3 ACADVL CPT2
51 pneumonia 10.3
52 hepatitis 10.2
53 familial periodic paralysis 10.2 RYR1 SCN4A
54 carnitine palmitoyltransferase i deficiency 10.2 ACADVL CPT2
55 ocular motor apraxia 10.2
56 interstitial myocarditis 10.1 MB PIK3C2A
57 pancreatitis 10.1
58 neuropathy 10.1
59 posterior myocardial infarction 10.1 MB PIK3C2A
60 diabetes mellitus, ketosis-prone 10.1
61 leukemia 10.1
62 legionnaires' disease 10.1
63 encephalopathy 10.1
64 myositis fibrosa 10.1 MB PIK3C2A
65 acute kidney tubular necrosis 10.1
66 anuria 10.1 MB PIK3C2A
67 lactic acidosis 10.1
68 myocarditis 10.1
69 polymyositis 10.1
70 renal tubular acidosis 10.1
71 cardiac arrest 10.1
72 muscular dystrophy 10.1
73 malaria 10.1
74 status epilepticus 10.1
75 intermediate coronary syndrome 10.1 MB PIK3C2A
76 pheochromocytoma 10.0
77 dengue virus 10.0
78 legionnaire disease 10.0
79 diabetes mellitus 10.0
80 lymphoma 10.0
81 legionellosis 10.0
82 melanoma 10.0
83 acute pancreatitis 10.0
84 serotonin syndrome 10.0
85 acute mountain sickness 10.0 MB PIK3C2A
86 pseudohyperkalemia, familial, 2, due to red cell leak 10.0 MB PIK3C2A SCN4A
87 myeloma, multiple 10.0
88 adrenal gland pheochromocytoma 10.0
89 leptospirosis 10.0
90 human immunodeficiency virus infectious disease 10.0
91 mitochondrial myopathy 10.0
92 status asthmaticus 10.0
93 meningitis 10.0
94 encephalitis 10.0
95 rere-related disorders 10.0
96 head injury 10.0
97 cocaine intoxication 10.0
98 neuromuscular disease 10.0 AMPD1 RYR1 SCN4A
99 muscle tissue disease 10.0 MB PIK3C2A RYR1
100 schizophrenia 9.9
101 dengue disease 9.9
102 dermatomyositis 9.9
103 respiratory failure 9.9
104 gastroenteritis 9.9
105 purpura 9.9
106 cocaine abuse 9.9
107 cytomegalovirus infection 9.9
108 prostate cancer 9.9
109 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.9
110 prostate cancer, hereditary, 8 9.9
111 anorexia nervosa 9.9
112 prostate cancer, hereditary, 6 9.9
113 polyglucosan body myopathy 1 with or without immunodeficiency 9.9
114 alcohol abuse 9.9
115 hemolytic anemia 9.9
116 liver cirrhosis 9.9
117 thrombosis 9.9
118 pulmonary edema 9.9
119 myeloid leukemia 9.9
120 lupus erythematosus 9.9
121 diabetes insipidus 9.9
122 degos 'en cocarde' erythrokeratoderma 9.9
123 dipsogenic diabetes insipidus 9.9
124 exercise-induced malignant hyperthermia 9.9
125 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.9
126 muscular dystrophy, duchenne type 9.9
127 leukemia, acute myeloid 9.9
128 hepatitis b 9.9
129 spinal cord injury 9.9
130 purpura fulminans 9.9
131 endocarditis 9.9
132 hypoparathyroidism 9.9
133 tetanus 9.9
134 guillain-barre syndrome 9.9
135 typhoid fever 9.9
136 capillary leak syndrome 9.9
137 hepatitis c 9.9
138 myelitis 9.9
139 ischemia 9.9
140 hyperglycemia 9.9
141 peripheral nervous system disease 9.9
142 thyroiditis 9.9
143 chickenpox 9.9
144 renal tubular acidosis, distal 9.9
145 systemic capillary leak syndrome 9.9
146 transverse myelitis 9.9
147 depression 9.9
148 hepatocellular carcinoma 9.8
149 hashimoto thyroiditis 9.8
150 systemic lupus erythematosus 9.8
151 porphyria, acute intermittent 9.8
152 rheumatoid arthritis 9.8
153 sjogren syndrome 9.8
154 asthma 9.8
155 ventricular fibrillation, paroxysmal familial, 1 9.8
156 body mass index quantitative trait locus 1 9.8
157 bulimia nervosa 9.8
158 leukemia, acute lymphoblastic 9.8
159 acute liver failure 9.8
160 arthritis 9.8
161 chronic kidney failure 9.8
162 crohn's disease 9.8
163 epidemic typhus 9.8
164 metabolic acidosis 9.8
165 colitis 9.8
166 lymphocytic leukemia 9.8
167 meningoencephalitis 9.8
168 sciatic neuropathy 9.8
169 hemopericardium 9.8
170 conn's syndrome 9.8
171 pancytopenia 9.8
172 hemolytic-uremic syndrome 9.8
173 quadriplegia 9.8
174 porphyria 9.8
175 scrub typhus 9.8
176 polyneuropathy 9.8
177 toxic shock syndrome 9.8
178 severe acute respiratory syndrome 9.8
179 aortic aneurysm 9.8
180 anterior compartment syndrome 9.8
181 kidney disease 9.8
182 adenoma 9.8
183 hyperthyroidism 9.8
184 leishmaniasis 9.8
185 hypoglycemia 9.8
186 adenosine monophosphate deaminase 1 deficiency 9.8
187 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 9.8
188 hypoxia 9.8
189 seizure disorder 9.8
190 cardiogenic shock 9.8
191 glycogen storage disease vii 9.8 PFKM PIK3C2A PYGM
192 aortic aneurysm, familial abdominal, 1 9.7
193 pfeiffer syndrome 9.7
194 renal cell carcinoma, nonpapillary 9.7
195 strabismus 9.7
196 autism 9.7
197 lung cancer 9.7
198 celiac disease 1 9.7
199 familial mediterranean fever 9.7
200 horns in sheep 9.7
201 leukemia, chronic myeloid 9.7
202 human immunodeficiency virus type 1 9.7
203 hepatitis c virus 9.7
204 meconium ileus 9.7
205 pontocerebellar hypoplasia, type 2e 9.7
206 acute leukemia 9.7
207 cutaneous leishmaniasis 9.7
208 end stage renal failure 9.7
209 glomerulonephritis 9.7
210 hemangioma 9.7
211 hemophagocytic lymphohistiocytosis 9.7
212 peripheral t-cell lymphoma 9.7
213 bacterial sepsis 9.7
214 chikungunya 9.7
215 pontocerebellar hypoplasia 9.7
216 short bowel syndrome 9.7
217 methemoglobinemia 9.7
218 placenta praevia 9.7
219 brucellosis 9.7
220 q fever 9.7
221 sarcoma 9.7
222 cardiac tamponade 9.7
223 nephrotic syndrome 9.7
224 mononeuropathy 9.7
225 pica disease 9.7
226 graves' disease 9.7
227 dementia 9.7
228 diarrhea 9.7
229 hyperuricemia 9.7
230 tularemia 9.7
231 west nile encephalitis 9.7
232 glucosephosphate dehydrogenase deficiency 9.7
233 adenocarcinoma 9.7
234 inappropriate adh syndrome 9.7
235 ebola hemorrhagic fever 9.7
236 acquired immunodeficiency syndrome 9.7
237 measles 9.7
238 subacute delirium 9.7
239 vasculitis 9.7
240 amyloidosis 9.7
241 mechanical strabismus 9.7
242 hypopituitarism 9.7
243 sheehan syndrome 9.7
244 pulmonary embolism 9.7
245 myotonic dystrophy 9.7
246 dystrophinopathies 9.7
247 myotonia atrophica 9.7
248 wdha syndrome 9.7
249 myoclonus 9.7
250 viral myositis 9.7
251 arteries, anomalies of 9.6
252 atrial standstill 1 9.6
253 breast cancer 9.6
254 colorectal cancer 9.6
255 cardiac arrhythmia 9.6
256 cardiac conduction defect 9.6
257 diabetes insipidus, nephrogenic, autosomal 9.6
258 diabetes mellitus, noninsulin-dependent 9.6
259 multiple sclerosis 9.6
260 hemifacial atrophy, progressive 9.6
261 inclusion body myositis 9.6
262 neurofibromatosis, type i 9.6
263 neurofibromatosis, type iv, of riccardi 9.6
264 ovarian cancer 9.6
265 papillomatosis, confluent and reticulated 9.6
266 parkinson disease, late-onset 9.6
267 stiff-person syndrome 9.6
268 storage pool platelet disease 9.6
269 sturge-weber syndrome 9.6
270 triiodothyronine receptor auxiliary protein 9.6
271 down syndrome 9.6
272 albinism, oculocutaneous, type ia 9.6
273 ascites, chylous 9.6
274 crigler-najjar syndrome, type i 9.6
275 cystic fibrosis 9.6
276 neuropathy, hereditary sensory and autonomic, type iii 9.6
277 fanconi-like syndrome 9.6
278 gaucher disease, type ii 9.6
279 mitochondrial myopathy with lactic acidosis 9.6
280 myasthenia gravis 9.6
281 panencephalitis, subacute sclerosing 9.6
282 gitelman syndrome 9.6
283 rhabdomyosarcoma 2 9.6
284 thymoma, familial 9.6
285 graves disease 1 9.6
286 danon disease 9.6
287 muscular dystrophy, becker type 9.6
288 sarcoma, synovial 9.6
289 cardiomyopathy, dilated, 3b 9.6
290 stuve-wiedemann syndrome 9.6
291 hyperinsulinemic hypoglycemia, familial, 2 9.6
292 hyperinsulinemic hypoglycemia, familial, 3 9.6
293 pseudohypoparathyroidism, type ib 9.6
294 sickle cell anemia 9.6
295 reflex sympathetic dystrophy 9.6
296 tropical calcific pancreatitis 9.6
297 hyperinsulinemic hypoglycemia, familial, 5 9.6
298 hyperinsulinemic hypoglycemia, familial, 4 9.6
299 west nile virus 9.6
300 deafness-infertility syndrome 9.6
301 kawasaki disease 9.6
302 lung cancer susceptibility 3 9.6
303 muscular dystrophy, congenital, lmna-related 9.6
304 gastric cancer 9.6
305 aspergillosis 9.6
306 alpha-methylacyl-coa racemase deficiency 9.6
307 rigidity and multifocal seizure syndrome, lethal neonatal 9.6
308 peripartum cardiomyopathy 9.6
309 infantile liver failure syndrome 1 9.6
310 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.6
311 drug metabolism, altered, cyp2c8-related 9.6
312 pulmonary hypertension 9.6
313 autoimmune hepatitis 9.6
314 breast reconstruction 9.6
315 burns 9.6
316 cataract 9.6
317 cerebral palsy 9.6
318 congestive heart failure 9.6
319 dengue hemorrhagic fever 9.6
320 diabetic neuropathy 9.6
321 dilated cardiomyopathy 9.6
322 glycogen storage disease 9.6
323 hematopoietic stem cell transplantation 9.6
324 neuromyelitis optica 9.6
325 neutropenia 9.6
326 systemic scleroderma 9.6
327 thrombocytopenia 9.6
328 ulcerative colitis 9.6
329 human granulocytic anaplasmosis 9.6
330 dengue shock syndrome 9.6
331 cutaneous lupus erythematosus 9.6
332 alkhurma hemorrhagic fever 9.6
333 brugada syndrome 9.6
334 hyperphosphatemia 9.6
335 oculocutaneous albinism 9.6
336 paraganglioma 9.6
337 limb ischemia 9.6
338 adrenal cortical adenoma 9.6
339 mucosal melanoma 9.6
340 infective endocarditis 9.6
341 ischemic colitis 9.6
342 atrial fibrillation 9.6
343 salmonellosis 9.6
344 myofibrillar myopathy 9.6
345 acquired von willebrand syndrome 9.6
346 asymptomatic neurosyphilis 9.6
347 cysticercosis 9.6
348 osteomyelitis 9.6
349 pleural tuberculosis 9.6
350 interstitial nephritis 9.6
351 thrombotic thrombocytopenic purpura 9.6
352 hand, foot and mouth disease 9.6
353 spotted fever 9.6
354 pertussis 9.6
355 schizophreniform disorder 9.6
356 diphtheria 9.6
357 alternating exotropia 9.6
358 exotropia 9.6
359 horner's syndrome 9.6
360 listeria meningitis 9.6
361 listeriosis 9.6
362 gestational diabetes 9.6
363 ischemic neuropathy 9.6
364 allergic hypersensitivity disease 9.6
365 hemosiderosis 9.6
366 neurogenic bladder 9.6
367 radial nerve lesion 9.6
368 radial neuropathy 9.6
369 secondary hyperparathyroidism 9.6
370 von willebrand's disease 9.6
371 chronic progressive external ophthalmoplegia 9.6
372 pyloric stenosis 9.6
373 thyroid crisis 9.6
374 central nervous system leukemia 9.6
375 plasmodium vivax malaria 9.6
376 uveitis 9.6
377 mycoplasma pneumoniae pneumonia 9.6
378 hyperparathyroidism 9.6
379 algoneurodystrophy 9.6
380 plasmodium falciparum malaria 9.6
381 boutonneuse fever 9.6
382 adult-onset still's disease 9.6
383 suppurative cholangitis 9.6
384 cholera 9.6
385 panniculitis 9.6
386 urticaria 9.6
387 rheumatic disease 9.6
388 squamous cell carcinoma 9.6
389 facial hemiatrophy 9.6
390 thyroid cancer 9.6
391 pericarditis 9.6
392 calcinosis 9.6
393 urethral stricture 9.6
394 viral hepatitis 9.6
395 gaucher's disease 9.6
396 cholecystitis 9.6
397 leiomyosarcoma 9.6
398 hyperinsulinism 9.6
399 pharyngitis 9.6
400 cystadenoma 9.6
401 dermatitis 9.6
402 contact dermatitis 9.6
403 hairy cell leukemia 9.6
404 endometriosis 9.6
405 pulmonary tuberculosis 9.6
406 testicular cancer 9.6
407 substance abuse 9.6
408 lipid metabolism disorder 9.6
409 rhabdomyosarcoma 9.6
410 thymoma 9.6
411 liposarcoma 9.6
412 mixed connective tissue disease 9.6
413 craniopharyngioma 9.6
414 thrombophlebitis 9.6
415 acute myocarditis 9.6
416 mouth disease 9.6
417 pseudohypoparathyroidism 9.6
418 femoral neuropathy 9.6
419 spindle cell sarcoma 9.6
420 calciphylaxis 9.6
421 dystonia 9.6
422 vipoma 9.6
423 paraplegia 9.6
424 central pontine myelinolysis 9.6
425 connective tissue disease 9.6
426 amphetamine abuse 9.6
427 parathyroid adenoma 9.6
428 peritonitis 9.6
429 paralytic ileus 9.6
430 herpes simplex 9.6
431 bacterial pneumonia 9.6
432 mucocutaneous leishmaniasis 9.6
433 homocystinuria 9.6
434 exophthalmos 9.6
435 cholangitis 9.6
436 babesiosis 9.6
437 polyarteritis nodosa 9.6
438 albinism 9.6
439 caveolinopathies 9.6
440 dysferlinopathy 9.6
441 acute necrotizing encephalopathy 9.6
442 antisynthetase syndrome 9.6
443 aortic coarctation 9.6
444 bone marrow necrosis 9.6
445 bowenoid papulosis 9.6
446 broken heart syndrome 9.6
447 cold urticaria 9.6
448 encephalocele 9.6
449 fukuyama type muscular dystrophy 9.6
450 gestational diabetes insipidus 9.6
451 haemophilus influenzae 9.6
452 human t-cell leukemia virus type 1 9.6
453 kocher-debre-semelaigne syndrome 9.6
454 limbic encephalitis 9.6
455 meningococcemia 9.6
456 myasthenia gravis congenital 9.6
457 necrotizing autoimmune myopathy 9.6
458 neuromyelitis optica spectrum disorder 9.6
459 neurosyphilis 9.6
460 scleromyxedema 9.6
461 secondary adrenal insufficiency 9.6
462 syndrome of inappropriate antidiuretic hormone 9.6
463 weber syndrome 9.6
464 aldosterone-producing adenoma 9.6
465 myotonia 9.6
466 cerebral aneurysms 9.6
467 dysautonomia 9.6
468 extrapontine myelinolysis 9.6
469 hemophagocytic syndrome associated with an infection 9.6
470 autosomal dominant progressive external ophthalmoplegia 9.6
471 basal encephalocele 9.6
472 muscular pseudohypertrophy-hypothyroidism syndrome 9.6
473 paracetamol poisoning 9.6
474 pneumococcal meningitis 9.6
475 discoid lupus erythematosus 9.6
476 acute adrenal insufficiency 9.6
477 cytophagic histiocytic panniculitis 9.6
478 creatine phosphokinase, elevated serum 9.5 CHKB HMGCR MB PIK3C2A
479 muscular disease 8.8 ACADVL CHKB CPT2 HMGCR MB PIK3C2A

Graphical network of the top 20 diseases related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis:



Diseases related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis

Symptoms & Phenotypes for Encephalopathy, Progressive, Early-Onset, with Episodic...

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
developmental regression
tetraplegia
absent speech
inability to walk
more
Muscle Soft Tissue:
rhabdomyolysis, episodic

Laboratory Abnormalities:
increased serum creatine kinase, episodic

Head And Neck Head:
microcephaly, acquired

Head And Neck Eyes:
cortical visual impairment (1 patient)

Clinical features from OMIM:

618331

GenomeRNAi Phenotypes related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis according to GeneCards Suite gene sharing:

27 (showing 12, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10 PIK3C2A
2 Decreased viability GR00221-A-1 10 CHKB PFKM PIK3C2A
3 Decreased viability GR00221-A-2 10 CHKB CPT2 PFKM PIK3C2A
4 Decreased viability GR00221-A-3 10 CHKB PFKM
5 Decreased viability GR00221-A-4 10 CHKB CPT2 PIK3C2A
6 Decreased viability GR00240-S-1 10 PIK3C2A
7 Decreased viability GR00301-A 10 CHKB
8 Decreased viability GR00342-S-1 10 PIK3C2A
9 Decreased viability GR00342-S-2 10 PIK3C2A
10 Decreased viability GR00342-S-3 10 PIK3C2A
11 Decreased viability GR00402-S-2 10 CHKB CPT2 PFKM PIK3C2A
12 Reduced mammosphere formation GR00396-S 9.02 CHKB CPT2 HMGCR PIK3C2A PYGM

MGI Mouse Phenotypes related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis:

47 (showing 5, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.9 ACADVL AMPD1 CHKB CPT2 HMGCR MB
2 behavior/neurological MP:0005386 9.8 ACADVL CHKB PFKM PYGM RYR1 SCN4A
3 cardiovascular system MP:0005385 9.73 ACADVL CPT2 MB PFKM PIK3C2A RYR1
4 mortality/aging MP:0010768 9.61 ACADVL AMPD1 CPT2 HMGCR MB PFKM
5 muscle MP:0005369 9.23 ACADVL AMPD1 CHKB MB PFKM PYGM

Drugs & Therapeutics for Encephalopathy, Progressive, Early-Onset, with Episodic...

Search Clinical Trials , NIH Clinical Center for Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis

Cochrane evidence based reviews: rhabdomyolysis

Genetic Tests for Encephalopathy, Progressive, Early-Onset, with Episodic...

Anatomical Context for Encephalopathy, Progressive, Early-Onset, with Episodic...

MalaCards organs/tissues related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis:

42
Prostate, Thyroid, Myeloid, Brain, Kidney, Liver, Heart

Publications for Encephalopathy, Progressive, Early-Onset, with Episodic...

Articles related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis:

(showing 1, show less)
# Title Authors Year
1
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. ( 30120216 )
2018

Variations for Encephalopathy, Progressive, Early-Onset, with Episodic...

ClinVar genetic disease variations for Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis:

6 (showing 28, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN4A NM_000334.4(SCN4A): c.4343G> A (p.Arg1448His) single nucleotide variant Pathogenic rs121908545 GRCh37 Chromosome 17, 62019299: 62019299
2 SCN4A NM_000334.4(SCN4A): c.4343G> A (p.Arg1448His) single nucleotide variant Pathogenic rs121908545 GRCh38 Chromosome 17, 63941939: 63941939
3 CPT2 NM_000098.2(CPT2): c.338C> T (p.Ser113Leu) single nucleotide variant Pathogenic rs74315294 GRCh37 Chromosome 1, 53668099: 53668099
4 CPT2 NM_000098.2(CPT2): c.338C> T (p.Ser113Leu) single nucleotide variant Pathogenic rs74315294 GRCh38 Chromosome 1, 53202427: 53202427
5 AHCY NM_000687.3(AHCY): c.428A> G (p.Tyr143Cys) single nucleotide variant Likely pathogenic rs121918608 GRCh37 Chromosome 20, 32880181: 32880181
6 AHCY NM_000687.3(AHCY): c.428A> G (p.Tyr143Cys) single nucleotide variant Likely pathogenic rs121918608 GRCh38 Chromosome 20, 34292375: 34292375
7 PFKM NM_001166686.1(PFKM): c.450+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs202143236 GRCh37 Chromosome 12, 48525177: 48525177
8 PFKM NM_001166686.1(PFKM): c.450+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs202143236 GRCh38 Chromosome 12, 48131394: 48131394
9 ACADVL NM_000018.4(ACADVL): c.1376G> A (p.Arg459Gln) single nucleotide variant Pathogenic/Likely pathogenic rs751995154 GRCh37 Chromosome 17, 7127330: 7127330
10 ACADVL NM_000018.4(ACADVL): c.1376G> A (p.Arg459Gln) single nucleotide variant Pathogenic/Likely pathogenic rs751995154 GRCh38 Chromosome 17, 7224011: 7224011
11 MYH3 NM_002470.3(MYH3): c.875C> G (p.Ser292Cys) single nucleotide variant Uncertain significance rs139480342 GRCh37 Chromosome 17, 10550522: 10550522
12 MYH3 NM_002470.3(MYH3): c.875C> G (p.Ser292Cys) single nucleotide variant Uncertain significance rs139480342 GRCh38 Chromosome 17, 10647205: 10647205
13 ACADVL NM_001270447.1(ACADVL): c.1427G> A (p.Arg476Gln) single nucleotide variant Likely pathogenic rs138058572 GRCh38 Chromosome 17, 7223993: 7223993
14 ACADVL NM_001270447.1(ACADVL): c.1427G> A (p.Arg476Gln) single nucleotide variant Likely pathogenic rs138058572 GRCh37 Chromosome 17, 7127312: 7127312
15 AHCY NM_000687.3(AHCY): c.266C> T (p.Ala89Val) single nucleotide variant Uncertain significance rs755222515 GRCh38 Chromosome 20, 34294110: 34294110
16 AHCY NM_000687.3(AHCY): c.266C> T (p.Ala89Val) single nucleotide variant Uncertain significance rs755222515 GRCh37 Chromosome 20, 32881916: 32881916
17 CACNA1S NM_000069.2(CACNA1S): c.1678G> T (p.Ala560Ser) single nucleotide variant Likely pathogenic rs763794604 GRCh37 Chromosome 1, 201046197: 201046197
18 CACNA1S NM_000069.2(CACNA1S): c.1678G> T (p.Ala560Ser) single nucleotide variant Likely pathogenic rs763794604 GRCh38 Chromosome 1, 201077069: 201077069
19 PGAM2 NM_000290.3(PGAM2): c.637G> A (p.Gly213Arg) single nucleotide variant Likely pathogenic rs750422335 GRCh37 Chromosome 7, 44102488: 44102488
20 PGAM2 NM_000290.3(PGAM2): c.637G> A (p.Gly213Arg) single nucleotide variant Likely pathogenic rs750422335 GRCh38 Chromosome 7, 44062889: 44062889
21 RYR1 NM_000540.2(RYR1): c.179A> G (p.Asp60Gly) single nucleotide variant Likely pathogenic rs1555762532 GRCh38 Chromosome 19, 38442362: 38442362
22 RYR1 NM_000540.2(RYR1): c.179A> G (p.Asp60Gly) single nucleotide variant Likely pathogenic rs1555762532 GRCh37 Chromosome 19, 38933002: 38933002
23 HERC2 NM_004667.5(HERC2): c.5045A> G (p.Asn1682Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 28474681: 28474681
24 HERC2 NM_004667.5(HERC2): c.5045A> G (p.Asn1682Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 28229535: 28229535
25 RYR1 NM_000540.2(RYR1): c.1312G> C (p.Glu438Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 38943526: 38943526
26 RYR1 NM_000540.2(RYR1): c.1312G> C (p.Glu438Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 38452886: 38452886
27 TRAPPC2L NM_016209.4(TRAPPC2L): c.109G> T (p.Asp37Tyr) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 88858694: 88858694
28 TRAPPC2L NM_016209.4(TRAPPC2L): c.109G> T (p.Asp37Tyr) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 88925102: 88925102

Expression for Encephalopathy, Progressive, Early-Onset, with Episodic...

Search GEO for disease gene expression data for Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis.

Pathways for Encephalopathy, Progressive, Early-Onset, with Episodic...

Pathways related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis according to GeneCards Suite gene sharing:

(showing 3, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.4 ACADVL AMPD1 CHKB CPT2 HMGCR PFKM
2
Show member pathways
11.37 CPT2 HMGCR PFKM
3
Show member pathways
10.52 ACADVL CHKB CPT2

GO Terms for Encephalopathy, Progressive, Early-Onset, with Episodic...

Biological processes related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.26 ACADVL CHKB CPT2 HMGCR
2 fatty acid beta-oxidation GO:0006635 9.16 ACADVL CPT2
3 glycogen catabolic process GO:0005980 8.62 PFKM PYGM

Sources for Encephalopathy, Progressive, Early-Onset, with Episodic...

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