PGBM1
MCID: PLY118
MIFTS: 53

Polyglucosan Body Myopathy 1 with or Without Immunodeficiency (PGBM1)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

MalaCards integrated aliases for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency:

Name: Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 56 73 29 6 71
Polyglucosan Body Myopathy, Early-Onset, with or Without Immunodeficiency 56 73 39
Pgbm1 56 58 73
Autoinflammatory Syndrome with Pyogenic Bacterial Infection and Amylopectinosis 58 36
Pbmei 56 73
Polyglucosan Body Myopathy, Early-Onset, with or Without Immunodeficiency; Pbmei 56
Polyglucosan Body Myopathy Type 1 58
Muscle Weakness 43

Characteristics:

Orphanet epidemiological data:

58
autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
polyglucosan body myopathy type 1
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
onset in infancy or early childhood


HPO:

31
polyglucosan body myopathy 1 with or without immunodeficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare systemic and rhumatological diseases
Inborn errors of metabolism
Rare immunological diseases


Summaries for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

KEGG : 36 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis is a rare autosomal recessive disorder characterized by chronic autoinflammation, invasive bacterial infections, and muscular amylopectinosis. Patients carried biallelic loss-of-expression and loss-of-function mutations in HOIL1 (RBCK1) gene coding for a component of the linear ubiquitination chain assembly complex (LUBAC). The patients developed recurrent episodes of fever and systemic inflammation with higher concentrations of acute-phase markers, hepatosplenomegaly and lymphadenopathy very early in life. These features are commonly seen in the primary autoinflammatory diseases, although these HOIL-1-deficient patients failed to develop other cardinal features of the primary autoinflammatory diseases, such as pleuritis, pericarditis, peritonitis, or neutrophilic dermatoses.

MalaCards based summary : Polyglucosan Body Myopathy 1 with or Without Immunodeficiency, also known as polyglucosan body myopathy, early-onset, with or without immunodeficiency, is related to glycogen storage disease iv and glycogen storage disease ii, and has symptoms including myalgia An important gene associated with Polyglucosan Body Myopathy 1 with or Without Immunodeficiency is RBCK1 (RANBP2-Type And C3HC4-Type Zinc Finger Containing 1), and among its related pathways/superpathways is NOD-like receptor signaling pathway. The drugs Levobupivacaine and Magnesium oxide have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and testes, and related phenotypes are hepatomegaly and scoliosis

OMIM : 56 Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). (615895)

UniProtKB/Swiss-Prot : 73 Polyglucosan body myopathy 1 with or without immunodeficiency: A disease characterized by polyglucosan storage myopathy associated with early-onset progressive muscle weakness and progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. Some patients present with severe immunodeficiency, invasive bacterial infections and chronic autoinflammation.

Related Diseases for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

Diseases related to Polyglucosan Body Myopathy 1 with or Without Immunodeficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 983, show less)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease iv 31.8 RNF31 RBCK1
2 glycogen storage disease ii 31.7 FKRP DMD CAPN3
3 myofibrillar myopathy 31.7 DMD CAPN3
4 muscular dystrophy, congenital, lmna-related 31.6 FKRP DMD CAPN3
5 ullrich congenital muscular dystrophy 1 31.6 FKRP DMD CAPN3
6 muscular dystrophy-dystroglycanopathy , type a, 4 31.6 FKRP DMD
7 facioscapulohumeral muscular dystrophy 1 31.5 FKRP DMD CAPN3
8 muscular dystrophy, becker type 31.5 FKRP DMD CAPN3
9 muscular dystrophy, limb-girdle, autosomal dominant 2 31.5 FKRP CAPN3
10 bethlem myopathy 1 31.5 FKRP DMD CAPN3
11 tibial muscular dystrophy 31.4 DMD CAPN3
12 limb-girdle muscular dystrophy 31.4 FKRP DMD CAPN3
13 muscular dystrophy, limb-girdle, autosomal recessive 8 31.3 FKRP CAPN3
14 rigid spine muscular dystrophy 1 31.3 FKRP DMD CAPN3
15 creatine phosphokinase, elevated serum 31.2 DMD CAPN3
16 muscular dystrophy, congenital merosin-deficient, 1a 31.1 FKRP DMD
17 myopathy 31.0 RBCK1 FKRP DMD CAPN3
18 myopathy, myofibrillar, 1 31.0 DMD CAPN3
19 muscular dystrophy-dystroglycanopathy 31.0 FKRP DMD
20 muscular dystrophy-dystroglycanopathy , type c, 5 30.9 FKRP CAPN3
21 isolated elevated serum creatine phosphokinase levels 30.9 FKRP DMD CAPN3
22 congenital muscular dystrophy-dystroglycanopathy type a 30.9 FKRP DMD
23 incontinentia pigmenti 30.9 RNF31 RBCK1
24 walker-warburg syndrome 30.9 FKRP DMD CAPN3
25 muscular dystrophy, limb-girdle, autosomal recessive 7 30.8 FKRP DMD CAPN3
26 muscular dystrophy, limb-girdle, autosomal recessive 2 30.8 FKRP DMD CAPN3
27 myopathy, myofibrillar, 3 30.6 FKRP DMD CAPN3
28 paresthesia 29.7 FKRP CAPN3
29 neuromuscular disease 29.7 FKRP DMD CAPN3
30 autosomal recessive limb-girdle muscular dystrophy type 2l 29.4 FKRP CAPN3
31 atrial standstill 1 29.4 FKRP DMD
32 cobblestone lissencephaly 29.3 FKRP DMD
33 miyoshi muscular dystrophy 29.2 FKRP DMD CAPN3
34 ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness 12.7
35 episodic muscle weakness, x-linked 12.6
36 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome 12.4
37 neuropathy, ataxia, and retinitis pigmentosa 12.3
38 cardiomyopathy, dilated, 1x 11.9
39 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 11.8
40 spinal muscular atrophy 11.7
41 myasthenia gravis 11.6
42 central core disease of muscle 11.6
43 nemaline myopathy 11.6
44 guillain-barre syndrome 11.6
45 muscular dystrophy 11.6
46 hyperkalemic periodic paralysis 11.6
47 hypokalemic periodic paralysis, type 1 11.6
48 congenital fiber-type disproportion 11.6
49 dermatomyositis 11.5
50 inclusion body myositis 11.5
51 myositis 11.5
52 spinal muscular atrophy, type iii 11.5
53 congenital myasthenic syndrome 11.5
54 muscular dystrophy, duchenne type 11.5
55 miyoshi muscular dystrophy 1 11.5
56 lambert-eaton myasthenic syndrome 11.4
57 chronic progressive external ophthalmoplegia 11.4
58 myotonia congenita 11.4
59 myopathy, myofibrillar, 9, with early respiratory failure 11.4
60 centronuclear myopathy 11.4
61 nemaline myopathy 3 11.4
62 paramyotonia congenita of von eulenburg 11.4
63 nemaline myopathy 2 11.4
64 myasthenic syndrome, congenital, 1a, slow-channel 11.4
65 neutral lipid storage disease with myopathy 11.4
66 neuromyelitis optica 11.4
67 cap myopathy 11.4
68 hypotonia 11.4
69 poliomyelitis 11.4
70 myotonic dystrophy 11.4
71 kearns-sayre syndrome 11.4
72 camera-marugo-cohen syndrome 11.4
73 myotonic dystrophy 2 11.4
74 multiple sclerosis 11.4
75 camurati-engelmann disease 11.4
76 andersen cardiodysrhythmic periodic paralysis 11.4
77 mitochondrial complex iv deficiency 11.4
78 gitelman syndrome 11.4
79 acth-secreting pituitary adenoma 11.4
80 rickets 11.3
81 polymyositis 11.3
82 amyotrophic lateral sclerosis 1 11.3
83 osteomalacia 11.3
84 polyglucosan body myopathy 2 11.3
85 oculopharyngeal muscular dystrophy 11.3
86 hyperthyroidism 11.3
87 thyrotoxic periodic paralysis 11.3
88 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 11.3
89 tay-sachs disease 11.3
90 myopathy due to myoadenylate deaminase deficiency 11.3
91 glycogen storage disease 11.3
92 multifocal motor neuropathy 11.3
93 necrotizing autoimmune myopathy 11.3
94 amyotrophy, hereditary neuralgic 11.3
95 acyl-coa dehydrogenase, short-chain, deficiency of 11.3
96 glycogen storage disease iii 11.3
97 myopathy, distal, with rimmed vacuoles 11.3
98 narcolepsy 11.3
99 chiari malformation 11.3
100 nemaline myopathy 1 11.2
101 periodic paralysis 11.2
102 distal myopathy with vocal cord weakness 11.2
103 multiminicore disease 11.2
104 cerebral palsy 11.2
105 lateral sclerosis 11.2
106 spinal muscular atrophy with progressive myoclonic epilepsy 11.2
107 glycogen storage disease v 11.2
108 spinal and bulbar muscular atrophy, x-linked 1 11.2
109 mitochondrial dna depletion syndrome 11 11.2
110 triosephosphate isomerase deficiency 11.2
111 myopathy with extrapyramidal signs 11.2
112 hyaline body myopathy 11.2
113 myopathy, congenital 11.2
114 graves' disease 11.2
115 brittle bone disorder 11.2
116 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 11.1
117 myeloma, multiple 11.1
118 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 11.1
119 critical illness polyneuropathy 11.1
120 periodic paralyses 11.1
121 marinesco-sjogren syndrome 11.1
122 spinal muscular atrophy, type i 11.1
123 myopathy, centronuclear, x-linked 11.1
124 mitochondrial dna depletion syndrome 2 11.1
125 nemaline myopathy 9 11.1
126 nemaline myopathy 11, autosomal recessive 11.1
127 inclusion body myopathy with paget disease of bone and frontotemporal dementia 11.1
128 miller fisher syndrome 11.1
129 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 11.1
130 collagen vi-related myopathy 11.1
131 myotonic dystrophy 1 11.1
132 childhood type dermatomyositis 11.1
133 peripheral nervous system disease 11.1
134 familial periodic paralyses 11.1
135 metabolic myopathy 11.1
136 spinocerebellar ataxia 2 11.1
137 temporal arteritis 11.1
138 multiple acyl-coa dehydrogenase deficiency 11.1
139 schwartz-jampel syndrome, type 1 11.1
140 danon disease 11.1
141 mcleod syndrome 11.1
142 hereditary motor and sensory neuropathy, type iic 11.1
143 ehlers-danlos syndrome, classic-like 11.1
144 muscular dystrophy, limb-girdle, autosomal dominant 3 11.1
145 arthrogryposis, distal, with impaired proprioception and touch 11.1
146 foodborne botulism 11.1
147 west nile encephalitis 11.1
148 sleep disorder 11.1
149 encephalitis 11.1
150 dysferlinopathy 11.1
151 tango2-related metabolic encephalopathy and arrhythmias 11.1
152 foot drop 11.1
153 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 11.1
154 myopathy, distal, 1 11.1
155 carnitine deficiency, systemic primary 11.1
156 krabbe disease 11.1
157 muscular dystrophy, limb-girdle, autosomal recessive 1 11.1
158 spastic paraplegia 20, autosomal recessive 11.1
159 spinal muscular atrophy, x-linked 2 11.1
160 myopathy, x-linked, with excessive autophagy 11.1
161 spinal muscular atrophy, distal, autosomal recessive, 1 11.1
162 spinal muscular atrophy, distal, autosomal recessive, 2 11.1
163 myasthenic syndrome, congenital, 12 11.1
164 myasthenic syndrome, congenital, 13 11.1
165 myasthenic syndrome, congenital, 8 11.1
166 nemaline myopathy 10 11.1
167 myasthenic syndrome, congenital, 14 11.1
168 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 11.1
169 myasthenic syndrome, congenital, 18 11.1
170 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 11.1
171 myopathy, autosomal recessive, with rigid spine and distal joint contractures 11.1
172 spinal muscular atrophy with lower extremity predominance 11.1
173 postpoliomyelitis syndrome 11.1
174 muscular dystrophy, duchenne and becker type 11.1
175 stac3 disorder 11.1
176 reducing body myopathy 11.1
177 myopathy - thyrotoxic 11.1
178 myopathy, centronuclear, 1 11.0
179 neuropathy, hereditary, with liability to pressure palsies 11.0
180 oculopharyngodistal myopathy 1 11.0
181 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 11.0
182 myopathy, spheroid body 11.0
183 spinal muscular atrophy, late-onset, finkel type 11.0
184 stiff skin syndrome 11.0
185 sturge-weber syndrome 11.0
186 choreoacanthocytosis 11.0
187 sengers syndrome 11.0
188 glycogen storage disease vii 11.0
189 spinal muscular atrophy, type ii 11.0
190 myasthenic syndrome, congenital, 6, presynaptic 11.0
191 myasthenic syndrome, congenital, 10 11.0
192 spinal muscular atrophy, type iv 11.0
193 glycogen storage disease, type ixd 11.0
194 barth syndrome 11.0
195 muscular dystrophy, limb-girdle, autosomal dominant 1 11.0
196 congenital cataracts, facial dysmorphism, and neuropathy 11.0
197 neuropathy, hereditary motor and sensory, okinawa type 11.0
198 myasthenic syndrome, congenital, 4a, slow-channel 11.0
199 charcot-marie-tooth disease, axonal, type 2e 11.0
200 myasthenic syndrome, congenital, 1b, fast-channel 11.0
201 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 11.0
202 nemaline myopathy 6 11.0
203 nemaline myopathy 4 11.0
204 leukodystrophy, hypomyelinating, 5 11.0
205 mitochondrial complex i deficiency, nuclear type 20 11.0
206 cerebral creatine deficiency syndrome 3 11.0
207 myopathy, myofibrillar, 6 11.0
208 glycogen storage disease xv 11.0
209 mitochondrial dna depletion syndrome 4b 11.0
210 myopathy, areflexia, respiratory distress, and dysphagia, early-onset 11.0
211 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 11.0
212 neuropathy, hereditary sensory and autonomic, type vii 11.0
213 myasthenic syndrome, congenital, 15 11.0
214 myasthenic syndrome, congenital, 3a, slow-channel 11.0
215 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency 11.0
216 myasthenic syndrome, congenital, 4b, fast-channel 11.0
217 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 11.0
218 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 11.0
219 myasthenic syndrome, congenital, 19 11.0
220 myopathy, scapulohumeroperoneal 11.0
221 myopathy, myofibrillar, 8 11.0
222 muscular dystrophy, congenital, with cataracts and intellectual disability 11.0
223 neuronopathy, distal hereditary motor, type ix 11.0
224 muscular dystrophy, limb-girdle, autosomal dominant 4 11.0
225 muscular dystrophy, limb-girdle, autosomal recessive 23 11.0
226 myasthenic syndrome, congenital, 25, presynaptic 11.0
227 paralytic poliomyelitis 11.0
228 emery-dreifuss muscular dystrophy 11.0
229 conn's syndrome 11.0
230 spastic paraplegia 8 11.0
231 infantile-onset ascending hereditary spastic paralysis 11.0
232 limb-girdle muscular dystrophy type 1b 11.0
233 rigid spine muscular dystrophy 11.0
234 floppy infant syndrome 11.0
235 diaphyseal medullary stenosis with malignant fibrous histiocytoma 10.9
236 myopathy, tubular aggregate, 1 10.9
237 singleton-merten syndrome 1 10.9
238 abetalipoproteinemia 10.9
239 acyl-coa dehydrogenase, very long-chain, deficiency of 10.9
240 amyotonia congenita 10.9
241 agenesis of the corpus callosum with peripheral neuropathy 10.9
242 lysinuric protein intolerance 10.9
243 friedreich ataxia 10.9
244 achalasia-addisonianism-alacrima syndrome 10.9
245 hypoadrenocorticism, familial 10.9
246 hypophosphatemic rickets with hypercalciuria, hereditary 10.9
247 mitochondrial myopathy with lactic acidosis 10.9
248 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 10.9
249 myopathy, centronuclear, 2 10.9
250 minicore myopathy with external ophthalmoplegia 10.9
251 proteasome-associated autoinflammatory syndrome 1 10.9
252 multiple pterygium syndrome, escobar variant 10.9
253 refsum disease, classic 10.9
254 renal tubular acidosis, distal, with progressive nerve deafness 10.9
255 chanarin-dorfman syndrome 10.9
256 phosphoglycerate kinase 1 deficiency 10.9
257 combined oxidative phosphorylation deficiency 6 10.9
258 cardiomyopathy, dilated, 3b 10.9
259 wieacker-wolff syndrome 10.9
260 neuronopathy, distal hereditary motor, type va 10.9
261 myasthenic syndrome, congenital, 5 10.9
262 welander distal myopathy 10.9
263 neuropathy, congenital hypomyelinating, 1, autosomal recessive 10.9
264 nemaline myopathy 5 10.9
265 charcot-marie-tooth disease, axonal, type 2b2 10.9
266 amyotrophic lateral sclerosis 21 10.9
267 charcot-marie-tooth disease, axonal, type 2f 10.9
268 spinal muscular atrophy, distal, autosomal recessive, 3 10.9
269 charcot-marie-tooth disease, axonal, type 2k 10.9
270 myotonia, potassium-aggravated 10.9
271 myopathy, myofibrillar, 2 10.9
272 spastic paraplegia 26, autosomal recessive 10.9
273 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 10.9
274 muscular dystrophy, congenital, merosin-positive 10.9
275 giant axonal neuropathy 2, autosomal dominant 10.9
276 nemaline myopathy 7 10.9
277 spinal muscular atrophy, distal, autosomal recessive, 4 10.9
278 salih myopathy 10.9
279 mitochondrial dna depletion syndrome 5 10.9
280 mitochondrial dna depletion syndrome 8a 10.9
281 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy 10.9
282 myopathy, congenital, compton-north 10.9
283 glycogen storage disease xiii 10.9
284 miyoshi muscular dystrophy 3 10.9
285 myopathy, lactic acidosis, and sideroblastic anemia 2 10.9
286 muscular dystrophy, limb-girdle, autosomal recessive 17 10.9
287 myopathy, distal, 4 10.9
288 psoriasis 14, pustular 10.9
289 neuropathy, hereditary sensory, type iic 10.9
290 peripheral neuropathy, myopathy, hoarseness, and hearing loss 10.9
291 pontocerebellar hypoplasia, type 1b 10.9
292 amyotrophic lateral sclerosis 17 10.9
293 brown-vialetto-van laere syndrome 2 10.9
294 neuronopathy, distal hereditary motor, type vb 10.9
295 spinal muscular atrophy, distal, autosomal recessive, 5 10.9
296 charcot-marie-tooth disease, demyelinating, type 4f 10.9
297 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant 10.9
298 muscular dystrophy-dystroglycanopathy , type b, 14 10.9
299 muscular dystrophy-dystroglycanopathy , type c, 14 10.9
300 muscular dystrophy, limb-girdle, autosomal recessive 18 10.9
301 mitochondrial dna depletion syndrome 12b , autosomal recessive 10.9
302 ehlers-danlos syndrome, musculocontractural type, 2 10.9
303 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 10.9
304 myasthenic syndrome, congenital, 7, presynaptic 10.9
305 pontocerebellar hypoplasia, type 1c 10.9
306 charcot-marie-tooth disease, axonal, type 2u 10.9
307 myasthenic syndrome, congenital, 2a, slow-channel 10.9
308 myasthenic syndrome, congenital, 3b, fast-channel 10.9
309 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 10.9
310 charcot-marie-tooth disease, axonal, type 2x 10.9
311 charcot-marie-tooth disease, axonal, type 2z 10.9
312 combined oxidative phosphorylation deficiency 28 10.9
313 muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue 10.9
314 charcot-marie-tooth disease, axonal, type 2cc 10.9
315 charcot-marie-tooth disease, axonal, autosomal recessive, type 2a2b 10.9
316 myopathy, myofibrillar, 7 10.9
317 myasthenic syndrome, congenital, 20, presynaptic 10.9
318 mitochondrial dna depletion syndrome 12a , autosomal dominant 10.9
319 myopathy, centronuclear, 6, with fiber-type disproportion 10.9
320 charcot-marie-tooth disease, axonal, type 2dd 10.9
321 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 10.9
322 neuropathy, congenital hypomyelinating, 2 10.9
323 charcot-marie-tooth disease, demyelinating, type 1g 10.9
324 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 10.9
325 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 10.9
326 charcot-marie-tooth disease, axonal, type 2ee 10.9
327 myopathy, congenital, with fast-twitch fiber atrophy 10.9
328 neuropathy, hereditary motor and sensory, type vic, with optic atrophy 10.9
329 myopathy, congenital, with tremor 10.9
330 myopathy, distal, 6, adult-onset, autosomal dominant 10.9
331 congenital generalized lipodystrophy 10.9
332 mitochondrial dna depletion syndrome 10.9
333 cylindrical spirals myopathy 10.9
334 mixed connective tissue disease 10.9
335 bartter disease 10.9
336 episodic ataxia 10.9
337 adult polyglucosan body disease 10.9
338 giant axonal neuropathy 10.9
339 lama2-related muscular dystrophy 10.9
340 phosphorylase kinase deficiency 10.9
341 polymicrogyria 10.9
342 spastic paraplegia 4 10.9
343 spastic paraplegia 11 10.9
344 childhood-onset nemaline myopathy 10.9
345 proximal spinal muscular atrophy 10.9
346 actin-accumulation myopathy 10.9
347 intranuclear rod myopathy 10.9
348 myopathy with deficiency of iron-sulfur cluster assembly enzyme 10.9
349 neurological manifestations of pompe disease 10.9
350 werdnig-hoffman disease 10.9
351 axial osteomalacia 10.8
352 charcot-marie-tooth disease, axonal, type 2a1 10.8
353 charcot-marie-tooth disease and deafness 10.8
354 mitochondrial complex iii deficiency, nuclear type 1 10.8
355 lateral meningocele syndrome 10.8
356 neuromyotonia and axonal neuropathy, autosomal recessive 10.8
357 hyperparathyroidism 2 with jaw tumors 10.8
358 migraine with or without aura 1 10.8
359 moebius syndrome 10.8
360 facioscapulohumeral muscular dystrophy 2 10.8
361 myotonia congenita, autosomal dominant 10.8
362 spinocerebellar ataxia 1 10.8
363 liddle syndrome 1 10.8
364 renal tubular acidosis, distal, autosomal dominant 10.8
365 roussy-levy hereditary areflexic dystasia 10.8
366 scapuloperoneal syndrome, neurogenic, kaeser type 10.8
367 scapuloperoneal spinal muscular atrophy 10.8
368 spastic paraplegia 4, autosomal dominant 10.8
369 stormorken syndrome 10.8
370 long qt syndrome 1 10.8
371 wolff-parkinson-white syndrome 10.8
372 chiari malformation type ii 10.8
373 fazio-londe disease 10.8
374 brown-vialetto-van laere syndrome 1 10.8
375 citrullinemia, classic 10.8
376 3-hydroxyacyl-coa dehydrogenase deficiency 10.8
377 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.8
378 leprosy 3 10.8
379 mannosidosis, alpha b, lysosomal 10.8
380 mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy 10.8
381 mitochondrial complex ii deficiency 10.8
382 muscular dystrophy-dystroglycanopathy , type a, 3 10.8
383 carey-fineman-ziter syndrome 10.8
384 carnitine palmitoyltransferase i deficiency 10.8
385 myopathy, myosin storage, autosomal recessive 10.8
386 myotonia congenita, autosomal recessive 10.8
387 neurodegeneration with brain iron accumulation 2a 10.8
388 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 10.8
389 gyrate atrophy of choroid and retina 10.8
390 pseudohypoaldosteronism, type i, autosomal recessive 10.8
391 pyruvate carboxylase deficiency 10.8
392 sandhoff disease 10.8
393 spastic paraplegia 5a, autosomal recessive 10.8
394 immunoneurologic disorder, x-linked 10.8
395 allan-herndon-dudley syndrome 10.8
396 scapuloperoneal myopathy, x-linked dominant 10.8
397 myopathy, x-linked, with postural muscle atrophy 10.8
398 mental retardation, x-linked, syndromic, wu type 10.8
399 wieacker-wolff syndrome, female-restricted 10.8
400 glycogen storage disease ixa1 10.8
401 leber optic atrophy 10.8
402 menkes disease 10.8
403 partington x-linked mental retardation syndrome 10.8
404 pelizaeus-merzbacher disease 10.8
405 cyclic vomiting syndrome 10.8
406 mitochondrial myopathy, infantile, transient 10.8
407 myopathy, lactic acidosis, and sideroblastic anemia 3 10.8
408 neuronopathy, distal hereditary motor, type viii 10.8
409 spinocerebellar ataxia 4 10.8
410 tibial muscular dystrophy, tardive 10.8
411 hereditary motor and sensory neuropathy v 10.8
412 myopathy, lactic acidosis, and sideroblastic anemia 1 10.8
413 charcot-marie-tooth disease, axonal, type 2b 10.8
414 neurofibromatosis-noonan syndrome 10.8
415 charcot-marie-tooth disease, type 4d 10.8
416 charcot-marie-tooth disease, axonal, type 2d 10.8
417 ribbing disease 10.8
418 friedreich ataxia 2 10.8
419 amyotrophy, monomelic 10.8
420 muscular dystrophy, congenital, megaconial type 10.8
421 long qt syndrome 3 10.8
422 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 10.8
423 muscular dystrophy, congenital, 1b 10.8
424 neuropathy, hereditary motor and sensory, russe type 10.8
425 charcot-marie-tooth disease, axonal, type 2b1 10.8
426 hyperaldosteronism, familial, type ii 10.8
427 myopathy, proximal, with ophthalmoplegia 10.8
428 primary lateral sclerosis, juvenile 10.8
429 charcot-marie-tooth disease, dominant intermediate b 10.8
430 camurati-engelmann disease, type 2 10.8
431 amyotrophic lateral sclerosis 3 10.8
432 spastic paraplegia 7, autosomal recessive 10.8
433 bartter syndrome, type 3 10.8
434 charcot-marie-tooth disease, axonal, type 2i 10.8
435 charcot-marie-tooth disease, axonal, type 2j 10.8
436 charcot-marie-tooth disease, recessive intermediate a 10.8
437 charcot-marie-tooth disease, axonal, type 2l 10.8
438 neuropathy, hereditary, with or without age-related macular degeneration 10.8
439 posterior column ataxia with retinitis pigmentosa 10.8
440 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 10.8
441 tukel syndrome 10.8
442 myopathy, myofibrillar, 4 10.8
443 2-methylbutyryl-coa dehydrogenase deficiency 10.8
444 heart-hand syndrome, slovenian type 10.8
445 3-methylglutaconic aciduria, type v 10.8
446 mevalonic aciduria 10.8
447 koolen-de vries syndrome 10.8
448 charcot-marie-tooth disease, type 4j 10.8
449 primary lateral sclerosis, adult, 1 10.8
450 congenital arthrogryposis with anterior horn cell disease 10.8
451 porphyria, acute hepatic 10.8
452 immunodeficiency 9 10.8
453 muscular dystrophy-dystroglycanopathy , type c, 15 10.8
454 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 10.8
455 muscular dystrophy-dystroglycanopathy , type b, 1 10.8
456 muscular dystrophy-dystroglycanopathy , type c, 2 10.8
457 muscular dystrophy, congenital, due to integrin alpha-7 deficiency 10.8
458 charcot-marie-tooth disease, axonal, type 2n 10.8
459 miyoshi muscular dystrophy 2 10.8
460 hypokalemic periodic paralysis, type 2 10.8
461 muscular dystrophy, limb-girdle, type 1h 10.8
462 neuropathy, hereditary sensory and autonomic, type ic 10.8
463 long qt syndrome 2 10.8
464 mitochondrial complex v deficiency, nuclear type 3 10.8
465 myasthenic syndrome, congenital, 16 10.8
466 charcot-marie-tooth disease, axonal, type 2o 10.8
467 neurodegeneration with brain iron accumulation 4 10.8
468 myopathy, distal, tateyama type 10.8
469 charcot-marie-tooth disease, axonal, type 2p 10.8
470 charcot-marie-tooth disease, dominant intermediate e 10.8
471 pseudohypoaldosteronism, type iie 10.8
472 facial paresis, hereditary congenital, 3 10.8
473 myopathy, centronuclear, 4 10.8
474 congenital disorder of glycosylation, type it 10.8
475 charcot-marie-tooth disease, axonal, type 2q 10.8
476 mitochondrial complex iii deficiency, nuclear type 2 10.8
477 mitochondrial complex iii deficiency, nuclear type 3 10.8
478 mitochondrial complex iii deficiency, nuclear type 4 10.8
479 muscular dystrophy-dystroglycanopathy , type a, 11 10.8
480 muscular dystrophy-dystroglycanopathy , type a, 12 10.8
481 nemaline myopathy 8 10.8
482 muscular dystrophy-dystroglycanopathy , type a, 14 10.8
483 charcot-marie-tooth disease, recessive intermediate c 10.8
484 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 10.8
485 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 10.8
486 mitochondrial dna depletion syndrome 13 10.8
487 charcot-marie-tooth disease, axonal, type 2r 10.8
488 mitochondrial complex iii deficiency, nuclear type 8 10.8
489 combined oxidative phosphorylation deficiency 20 10.8
490 myopathy, centronuclear, 5 10.8
491 2,4-dienoyl-coa reductase deficiency 10.8
492 muscular dystrophy-dystroglycanopathy , type c, 12 10.8
493 myasthenic syndrome, congenital, 22 10.8
494 singleton-merten syndrome 2 10.8
495 myasthenic syndrome, congenital, 17 10.8
496 ullrich congenital muscular dystrophy 2 10.8
497 charcot-marie-tooth disease, axonal, type 2v 10.8
498 charcot-marie-tooth disease, axonal, type 2w 10.8
499 yuan-harel-lupski syndrome 10.8
500 charcot-marie-tooth disease, type 4k 10.8
501 charcot-marie-tooth disease, axonal, type 2t 10.8
502 myopathy, distal, 5 10.8
503 muscular dystrophy, congenital, davignon-chauveau type 10.8
504 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 10.8
505 spastic paraplegia 78, autosomal recessive 10.8
506 muscular dystrophy, limb-girdle, autosomal recessive 21 10.8
507 myasthenic syndrome, congenital, 21, presynaptic 10.8
508 neurodevelopmental disorder with hypotonia, neuropathy, and deafness 10.8
509 birk-landau-perez syndrome 10.8
510 spinocerebellar ataxia, autosomal recessive 26 10.8
511 myopathy, mitochondrial, and ataxia 10.8
512 neurodevelopmental disorder with microcephaly, ataxia, and seizures 10.8
513 amyotrophic lateral sclerosis 25 10.8
514 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 10.8
515 mitochondrial complex v deficiency, nuclear type 5 10.8
516 peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 10.8
517 neuropathy, congenital hypomyelinating, 3 10.8
518 myasthenic syndrome, congenital, 23, presynaptic 10.8
519 myasthenic syndrome, congenital, 24, presynaptic 10.8
520 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 10.8
521 arthrogryposis, distal, type 2b3 10.8
522 spastic ataxia 9, autosomal recessive 10.8
523 myopathy, congenital, progressive, with scoliosis 10.8
524 myopathy, congenital, with structured cores and z-line abnormalities 10.8
525 myopathy, congenital proximal, with minicore lesions 10.8
526 diabetes mellitus, permanent neonatal 2 10.8
527 sorbitol dehydrogenase deficiency with peripheral neuropathy 10.8
528 sydenham chorea 10.8
529 infant botulism 10.8
530 familial partial lipodystrophy 10.8
531 hypermethioninemia 10.8
532 hereditary sensory neuropathy 10.8
533 coenzyme q10 deficiency disease 10.8
534 fragile x-associated tremor/ataxia syndrome 10.8
535 spinal muscular atrophy with lower extremity predominance 2a 10.8
536 mitochondrial dna depletion syndrome 12b 10.8
537 giant axonal neuropathy 2 10.8
538 dopamine beta-hydroxylase deficiency 10.8
539 alpha thalassemia-x-linked intellectual disability syndrome 10.8
540 mitochondrial complex iii deficiency 10.8
541 distal hereditary motor neuronopathy type 2 10.8
542 charcot-marie-tooth disease type 1g 10.8
543 thyroid crisis 10.8
544 porphyria 10.8
545 spondylosis 10.8
546 long qt syndrome 10.8
547 spinal cord disease 10.8
548 neurilemmoma 10.8
549 intraneural perineurioma 10.8
550 spinal cancer 10.8
551 nerve compression syndrome 10.8
552 meningitis 10.8
553 biotin-thiamine-responsive basal ganglia disease 10.8
554 acute flaccid myelitis 10.8
555 autosomal dominant charcot-marie-tooth disease type 2 with giant axons 10.8
556 autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 10.8
557 canomad syndrome 10.8
558 epidermolysa bullosa simplex with muscular dystrophy 10.8
559 facial onset sensory and motor neuronopathy 10.8
560 fibrocartilaginous embolism 10.8
561 fukuyama type muscular dystrophy 10.8
562 hansen's disease 10.8
563 hereditary sensorimotor neuropathy with hyperelastic skin 10.8
564 hyperadrenalism 10.8
565 hypertrophic olivary degeneration 10.8
566 hypoaldosteronism 10.8
567 internal carotid agenesis 10.8
568 juvenile polymyositis 10.8
569 l-arginine:glycine amidinotransferase deficiency 10.8
570 late-onset distal myopathy, markesbery-griggs type 10.8
571 localized hypertrophic neuropathy 10.8
572 macrophagic myofasciitis 10.8
573 mercury poisoning 10.8
574 metatarsus adductus 10.8
575 mitochondrial dna-associated leigh syndrome 10.8
576 muscle eye brain disease 10.8
577 muscular phosphorylase kinase deficiency 10.8
578 pontocerebellar hypoplasia type 1 10.8
579 primary melanoma of the central nervous system 10.8
580 secondary adrenal insufficiency 10.8
581 singleton-merten syndrome 10.8
582 spastic paraplegia 15 10.8
583 tarlov cysts 10.8
584 typical congenital nemaline myopathy 10.8
585 x-linked charcot-marie-tooth disease 10.8
586 childhood myocerebrohepatopathy spectrum 10.8
587 corticosterone methyloxidase deficiency 10.8
588 lattice corneal dystrophy type ii 10.8
589 myoclonic epilepsy myopathy sensory ataxia 10.8
590 generalized gangliosidoses 10.8
591 infantile hypotonia 10.8
592 meningitis and encephalitis 10.8
593 vasculitis syndromes of the central and peripheral nervous systems 10.8
594 qualitative or quantitative defects of sarcoglycan 10.8
595 muscular atrophy 10.4
596 respiratory failure 10.4
597 polyneuropathy 10.4
598 osteoarthritis 10.4
599 hypokalemia 10.3
600 ataxia and polyneuropathy, adult-onset 10.3
601 exanthem 10.3
602 neuropathy 10.3
603 pulmonary disease, chronic obstructive 10.3
604 myotonia 10.2
605 congestive heart failure 10.2
606 dysphagia 10.2
607 autoimmune disease 10.2
608 hypophosphatemia 10.2
609 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
610 heart disease 10.2
611 ptosis 10.1
612 sarcoidosis 1 10.1
613 graves disease 1 10.1
614 aging 10.1
615 charcot-marie-tooth disease 10.1
616 tooth disease 10.1
617 hyperparathyroidism 10.1
618 renal tubular acidosis 10.1
619 hypothyroidism 10.1
620 spasticity 10.1
621 spinal cord injury 10.1
622 retinitis pigmentosa 10.0
623 thymoma, familial 10.0
624 alacrima, achalasia, and mental retardation syndrome 10.0
625 neuroretinitis 10.0
626 quadriplegia 10.0
627 thymoma 10.0
628 retinitis 10.0
629 kidney disease 10.0
630 mitochondrial myopathy 10.0
631 diabetic neuropathy 10.0
632 hypoglycemia 10.0
633 tremor 10.0
634 autoinflammation, panniculitis, and dermatosis syndrome 10.0 RNF31 RBCK1
635 small cell carcinoma 10.0
636 metabolic acidosis 10.0
637 scoliosis 10.0
638 bone disease 10.0
639 motor neuron disease 10.0
640 systemic scleroderma 10.0
641 radiculopathy 10.0
642 end stage renal disease 10.0
643 cataract 10.0
644 lung disease 10.0
645 malignant hyperthermia 10.0
646 back pain 10.0
647 encephalopathy 10.0
648 autosomal recessive limb-girdle muscular dystrophy type 2j 10.0 FKRP CAPN3
649 autosomal recessive limb-girdle muscular dystrophy type 2h 9.9 FKRP CAPN3
650 cardiac arrhythmia 9.9
651 rheumatoid arthritis 9.9
652 branchiootic syndrome 1 9.9
653 alkuraya-kucinskas syndrome 9.9
654 bone resorption disease 9.9
655 tetanus 9.9
656 secondary hyperparathyroidism 9.9
657 diabetic polyneuropathy 9.9
658 interstitial lung disease 9.9
659 lactic acidosis 9.9
660 uremia 9.9
661 movement disease 9.9
662 chronic inflammatory demyelinating polyradiculoneuropathy 9.9
663 demyelinating polyneuropathy 9.9
664 dystonia 9.9
665 axonal neuropathy 9.9
666 vasculitis 9.9
667 paraneoplastic syndromes 9.9
668 congenital amyoplasia 9.9
669 autosomal recessive limb-girdle muscular dystrophy type 2g 9.9 FKRP CAPN3
670 muscular dystrophy-dystroglycanopathy , type c, 4 9.9 FKRP CAPN3
671 systemic lupus erythematosus 9.8
672 osteoporosis 9.8
673 renal tubular acidosis, proximal 9.8
674 down syndrome 9.8
675 celiac disease 1 9.8
676 cystic fibrosis 9.8
677 ocular motor apraxia 9.8
678 stroke, ischemic 9.8
679 nonaka myopathy 9.8
680 body mass index quantitative trait locus 1 9.8
681 bone mineral density quantitative trait locus 8 9.8
682 thyrotoxic periodic paralysis 2 9.8
683 fanconi renotubular syndrome 2 9.8
684 bone mineral density quantitative trait locus 15 9.8
685 pulmonary hypertension 9.8
686 distal arthrogryposis 9.8
687 spastic cerebral palsy 9.8
688 autosomal recessive disease 9.8
689 pain agnosia 9.8
690 myoglobinuria 9.8
691 short bowel syndrome 9.8
692 fanconi syndrome 9.8
693 hemiplegia 9.8
694 primary hyperparathyroidism 9.8
695 cauda equina syndrome 9.8
696 visual epilepsy 9.8
697 primary biliary cirrhosis 9.8
698 dilated cardiomyopathy 9.8
699 diarrhea 9.8
700 ehlers-danlos syndrome 9.8
701 agammaglobulinemia 9.8
702 bilirubin metabolic disorder 9.8
703 pustulosis of palm and sole 9.8
704 thoracic cancer 9.8
705 connective tissue disease 9.8
706 neurofibromatosis 9.8
707 lupus erythematosus 9.8
708 psoriasis 9.8
709 mitochondrial encephalomyopathy 9.8
710 amyloidosis 9.8
711 speech disorder 9.8
712 dystrophinopathies 9.8
713 mitochondrial disorders 9.8
714 anca-associated vasculitis 9.8
715 congenital muscular dystrophy due to dystroglycanopathy 9.8
716 autonomic dysfunction 9.8
717 hypertonia 9.8
718 hypoxia 9.8
719 seizure disorder 9.8
720 qualitative or quantitative defects of dystrophin 9.8
721 qualitative or quantitative defects of alpha-dystroglycan 9.8
722 hereditary late-onset parkinson disease 9.8
723 argyria 9.8
724 muscular dystrophy-dystroglycanopathy , type a, 1 9.8 FKRP DMD
725 headache 9.7 FKRP BRCA2
726 pfeiffer syndrome 9.7
727 alcohol dependence 9.7
728 spondyloarthropathy 1 9.7
729 arthrogryposis, distal, type 1a 9.7
730 hepatocellular carcinoma 9.7
731 carpal tunnel syndrome 9.7
732 charcot-marie-tooth disease, demyelinating, type 1a 9.7
733 chiari malformation type i 9.7
734 cone-rod dystrophy 2 9.7
735 fibrosis of extraocular muscles, congenital, 1 9.7
736 hypertelorism 9.7
737 trichorhinophalangeal syndrome, type ii 9.7
738 leukemia, chronic lymphocytic 9.7
739 macroglossia 9.7
740 cowden syndrome 1 9.7
741 noonan syndrome 1 9.7
742 ovarian cancer 9.7
743 parkinson disease, late-onset 9.7
744 prader-willi syndrome 9.7
745 spondylolisthesis 9.7
746 syringomyelia, noncommunicating isolated 9.7
747 tetralogy of fallot 9.7
748 arachnoid cysts, intracranial 9.7
749 arthropathy, progressive pseudorheumatoid, of childhood 9.7
750 costello syndrome 9.7
751 pituitary adenoma 4, acth-secreting 9.7
752 l-2-hydroxyglutaric aciduria 9.7
753 immune deficiency disease 9.7
754 macrocephaly/megalencephaly syndrome, autosomal recessive 9.7
755 marden-walker syndrome 9.7
756 mitochondrial complex i deficiency, nuclear type 1 9.7
757 leigh syndrome 9.7
758 abnormal hair, joint laxity, and developmental delay 9.7
759 pituitary hormone deficiency, combined, 2 9.7
760 insulin-like growth factor i 9.7
761 sudden infant death syndrome 9.7
762 body mass index quantitative trait locus 11 9.7
763 hypophosphatemic rickets, x-linked recessive 9.7
764 pyruvate dehydrogenase e1-alpha deficiency 9.7
765 mitochondrial complex v deficiency, mitochondrial type 1 9.7
766 diabetes and deafness, maternally inherited 9.7
767 frontotemporal dementia 9.7
768 charcot-marie-tooth disease, type 4b1 9.7
769 body mass index quantitative trait locus 9 9.7
770 homocysteinemia 9.7
771 body mass index quantitative trait locus 8 9.7
772 microvascular complications of diabetes 1 9.7
773 anorexia nervosa 9.7
774 bone mineral density quantitative trait locus 3 9.7
775 body mass index quantitative trait locus 4 9.7
776 body mass index quantitative trait locus 10 9.7
777 body mass index quantitative trait locus 7 9.7
778 myocardial infarction 9.7
779 human immunodeficiency virus type 1 9.7
780 west nile virus 9.7
781 muscular dystrophy, limb-girdle, autosomal recessive 12 9.7
782 kawasaki disease 9.7
783 congenital disorder of glycosylation, type in 9.7
784 diabetes mellitus, ketosis-prone 9.7
785 body mass index quantitative trait locus 12 9.7
786 body mass index quantitative trait locus 14 9.7
787 microvascular complications of diabetes 2 9.7
788 microvascular complications of diabetes 5 9.7
789 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 9.7
790 aspergillosis 9.7
791 graft-versus-host disease 9.7
792 steel syndrome 9.7
793 body mass index quantitative trait locus 18 9.7
794 carbonic anhydrase va deficiency, hyperammonemia due to 9.7
795 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
796 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 9.7
797 spinal muscular atrophy with congenital bone fractures 2 9.7
798 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 9.7
799 body mass index quantitative trait locus 19 9.7
800 mitochondrial complex i deficiency, nuclear type 29 9.7
801 body mass index quantitative trait locus 20 9.7
802 speech and communication disorders 9.7
803 tendinopathy 9.7
804 tendinitis 9.7
805 wound botulism 9.7
806 restless legs syndrome 9.7
807 lissencephaly 9.7
808 2-hydroxyglutaric aciduria 9.7
809 brachydactyly 9.7
810 atrioventricular block 9.7
811 first-degree atrioventricular block 9.7
812 sleep apnea 9.7
813 ovarian serous carcinoma 9.7
814 sexual disorder 9.7
815 estrogen-receptor negative breast cancer 9.7
816 familial hemiplegic migraine 9.7
817 crest syndrome 9.7
818 3-methylglutaconic aciduria 9.7
819 spinal disease 9.7
820 osteomyelitis 9.7
821 familial periodic paralysis 9.7
822 monocular esotropia 9.7
823 amyotrophic neuralgia 9.7
824 meningoencephalitis 9.7
825 protein-losing enteropathy 9.7
826 microcephaly 9.7
827 hypoparathyroidism 9.7
828 ornithosis 9.7
829 tick paralysis 9.7
830 erysipelas 9.7
831 pyelonephritis 9.7
832 alternating exotropia 9.7
833 exotropia 9.7
834 horner's syndrome 9.7
835 diabetic autonomic neuropathy 9.7
836 autonomic neuropathy 9.7
837 infant gynecomastia 9.7
838 accommodative spasm 9.7
839 lyme disease 9.7
840 multicentric reticulohistiocytosis 9.7
841 hypertrophic cardiomyopathy 9.7
842 cryptococcosis 9.7
843 inflammatory spondylopathy 9.7
844 low compliance bladder 9.7
845 plica syndrome 9.7
846 neutropenia 9.7
847 hepatic coma 9.7
848 acute kidney tubular necrosis 9.7
849 gynecomastia 9.7
850 telangiectasis 9.7
851 renal osteodystrophy 9.7
852 acute cystitis 9.7
853 hepatic encephalopathy 9.7
854 sick sinus syndrome 9.7
855 facial paralysis 9.7
856 neonatal myasthenia gravis 9.7
857 alcoholic neuropathy 9.7
858 frozen shoulder 9.7
859 adult dermatomyositis 9.7
860 hypophosphatasia 9.7
861 autosomal dominant cerebellar ataxia 9.7
862 46 xx gonadal dysgenesis 9.7
863 pneumothorax 9.7
864 status epilepticus 9.7
865 impotence 9.7
866 hypogonadism 9.7
867 hyperinsulinism 9.7
868 autoimmune hepatitis 9.7
869 dental caries 9.7
870 ankylosis 9.7
871 keratopathy 9.7
872 iron metabolism disease 9.7
873 relapsing-remitting multiple sclerosis 9.7
874 sensory peripheral neuropathy 9.7
875 transitional cell carcinoma 9.7
876 synovitis 9.7
877 bursitis 9.7
878 acute kidney failure 9.7
879 serous cystadenocarcinoma 9.7
880 lipid metabolism disorder 9.7
881 syringomyelia 9.7
882 central nervous system disease 9.7
883 osteitis fibrosa 9.7
884 bone inflammation disease 9.7
885 skin carcinoma 9.7
886 central core myopathy 9.7
887 empty sella syndrome 9.7
888 pulmonary fibrosis 9.7
889 bladder urothelial carcinoma 9.7
890 liver disease 9.7
891 hyperglycemia 9.7
892 neuromuscular junction disease 9.7
893 avian influenza 9.7
894 lymph node tuberculosis 9.7
895 liver cirrhosis 9.7
896 chronic polyneuropathy 9.7
897 pneumonia 9.7
898 acute pyelonephritis 9.7
899 bronchitis 9.7
900 acquired immunodeficiency syndrome 9.7
901 spondylitis 9.7
902 spinal stenosis 9.7
903 compartment syndrome 9.7
904 mitochondrial metabolism disease 9.7
905 thyroiditis 9.7
906 monoclonal gammopathy of uncertain significance 9.7
907 neuroblastoma 9.7
908 chronic kidney disease 9.7
909 peritonitis 9.7
910 whipple disease 9.7
911 arthritis 9.7
912 fundus dystrophy 9.7
913 herpes zoster 9.7
914 measles 9.7
915 nervous system disease 9.7
916 pyomyositis 9.7
917 crohn's disease 9.7
918 degenerative disc disease 9.7
919 macroglobulinemia 9.7
920 status asthmaticus 9.7
921 lipid storage disease 9.7
922 pulmonary embolism 9.7
923 fasciitis 9.7
924 pathologic nystagmus 9.7
925 pulmonary emphysema 9.7
926 esotropia 9.7
927 hypereosinophilic syndrome 9.7
928 morquio syndrome 9.7
929 charcot-marie-tooth hereditary neuropathy 9.7
930 congenital disorders of n-linked glycosylation and multiple pathway 9.7
931 hypermobile ehlers-danlos syndrome 9.7
932 mitochondrial dna-associated leigh syndrome and narp 9.7
933 polg-related disorders 9.7
934 trichorhinophalangeal syndrome 9.7
935 al amyloidosis 9.7
936 carcinoid syndrome 9.7
937 chromosomal triplication 9.7
938 chronic thromboembolic pulmonary hypertension 9.7
939 congenital contractures 9.7
940 cytokine deficiency 9.7
941 fasting hypoglycemia 9.7
942 growth hormone deficiency 9.7
943 idiopathic spinal cord herniation 9.7
944 nondystrophic myotonia 9.7
945 ovarian epithelial cancer 9.7
946 pseudo-turner syndrome 9.7
947 slc4a1-associated distal renal tubular acidosis 9.7
948 small cell carcinoma of the bladder 9.7
949 subependymoma 9.7
950 west nile virus infection 9.7
951 raynaud phenomenon 9.7
952 cerebral atrophy 9.7
953 chronic pain 9.7
954 megalencephaly 9.7
955 myoclonus 9.7
956 swallowing disorders 9.7
957 whiplash 9.7
958 familial isolated dilated cardiomyopathy 9.7
959 paroxysmal dystonia 9.7
960 overlapping connective tissue disease 9.7
961 autosomal dominant progressive external ophthalmoplegia 9.7
962 muscular lipidosis 9.7
963 progressive muscular dystrophy 9.7
964 qualitative or quantitative defects of dysferlin 9.7
965 viral myositis 9.7
966 acyl-coa dehydrogenase deficiency 9.7
967 avascular necrosis 9.7
968 autoimmune hepatitis type 2 9.7
969 methotrexate toxicity 9.7
970 inherited retinal disorder 9.7
971 cardiogenic shock 9.7
972 presynaptic congenital myasthenic syndromes 9.7
973 acute motor and sensory axonal neuropathy 9.7
974 autosomal recessive limb-girdle muscular dystrophy 9.6 FKRP DMD CAPN3
975 autosomal recessive limb-girdle muscular dystrophy type 2c 9.6 FKRP DMD CAPN3
976 autosomal recessive limb-girdle muscular dystrophy type 2f 9.6 FKRP DMD CAPN3
977 muscular dystrophy, limb-girdle, autosomal recessive 6 9.6 FKRP DMD CAPN3
978 autosomal recessive limb-girdle muscular dystrophy type 2a 9.6 FKRP DMD CAPN3
979 autosomal recessive limb-girdle muscular dystrophy type 2b 9.6 FKRP DMD CAPN3
980 autosomal recessive limb-girdle muscular dystrophy type 2d 9.6 FKRP DMD CAPN3
981 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.6 FKRP DMD CAPN3
982 muscle tissue disease 9.6 FKRP DMD CAPN3
983 muscular disease 9.6 FKRP DMD CAPN3

Graphical network of the top 20 diseases related to Polyglucosan Body Myopathy 1 with or Without Immunodeficiency:



Diseases related to Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

Symptoms & Phenotypes for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

Human phenotypes related to Polyglucosan Body Myopathy 1 with or Without Immunodeficiency:

31 (showing 14, show less)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 31 occasional (7.5%) HP:0002240
2 scoliosis 31 occasional (7.5%) HP:0002650
3 immunodeficiency 31 occasional (7.5%) HP:0002721
4 elevated hepatic transaminase 31 occasional (7.5%) HP:0002910
5 ptosis 31 occasional (7.5%) HP:0000508
6 eczema 31 occasional (7.5%) HP:0000964
7 lymphadenopathy 31 occasional (7.5%) HP:0002716
8 recurrent infections 31 occasional (7.5%) HP:0002719
9 failure to thrive 31 HP:0001508
10 elevated serum creatine kinase 31 HP:0003236
11 myalgia 31 HP:0003326
12 growth delay 31 HP:0001510
13 dilated cardiomyopathy 31 HP:0001644
14 proximal muscle weakness 31 HP:0003701

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive
poor growth

Cardiovascular Heart:
dilated cardiomyopathy
amylopectinosis seen on biopsy
polyglucosan accumulation

Immunology:
recurrent infections (in some patients)
decreased memory b cells (in some patients)
lymphadenopathy (in some patients)
immunodeficiency (in some patients)
hyperinflammatory state (in some patients)
more
Abdomen Liver:
hepatomegaly (in some patients)
polyglucosan accumulation (in some patients)

Skin Nails Hair Skin:
eczema (in some patients)

Muscle Soft Tissue:
myalgia
proximal muscle weakness
polyglucosan accumulation

Skeletal Spine:
scoliosis (in some patients)

Laboratory Abnormalities:
increased serum creatine kinase
abnormal liver enzymes (in some patients)

Head And Neck Eyes:
ptosis (in some patients)

Neurologic Central Nervous System:
impaired ambulation due to muscle weakness

Clinical features from OMIM:

615895

UMLS symptoms related to Polyglucosan Body Myopathy 1 with or Without Immunodeficiency:


myalgia

Drugs & Therapeutics for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

Drugs for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 384, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
2
Magnesium oxide Approved Phase 4 1309-48-4 14792
3
Dinoprostone Approved Phase 4 363-24-6 5280360
4
Acetaminophen Approved Phase 4 103-90-2 1983
5
Fosinopril Approved Phase 4 98048-97-6 55891
6
Chloroprocaine Approved Phase 4 133-16-4 8612
7
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
8
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
9
Azathioprine Approved Phase 4 446-86-6 2265
10
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
11
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
12
Remifentanil Approved Phase 4 132875-61-7 60815
13
Methylcobalamin Approved, Investigational Phase 4 13422-55-4
14
Hydroxocobalamin Approved Phase 4 13422-51-0 15589840 11953898
15
Vincristine Approved, Investigational Phase 4 57-22-7, 2068-78-2 5978
16
Succinylcholine Approved Phase 4 306-40-1 5314
17
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
18
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
19
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
20
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
21
Mannitol Approved, Investigational Phase 4 69-65-8 6251 453
22
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
23
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
24
Clonidine Approved Phase 4 4205-90-7 2803
25
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
26
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
27
Atorvastatin Approved Phase 4 134523-00-5 60823
28
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
29
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
30
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
31
Valine Approved, Nutraceutical Phase 4 72-18-4 6287
32
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
33
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
34
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
35
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731 6433735
36
Cobalamin Experimental Phase 4 13408-78-1 6857388
37 Epoetin alfa Phase 4 113427-24-0
38 Antacids Phase 4