APBN
MCID: PLY158
MIFTS: 39

Polyglucosan Body Neuropathy, Adult Form (APBN)

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Polyglucosan Body Neuropathy, Adult Form

MalaCards integrated aliases for Polyglucosan Body Neuropathy, Adult Form:

Name: Polyglucosan Body Neuropathy, Adult Form 57 20 72
Polyglucosan Body Disease, Adult Form 57 20 43 72 13 70
Adult Polyglucosan Body Disease 20 43 58 72 29 6
Apbd 57 20 43 58 72
Apbn 57 20 72
Polyglucosan Body Disease, Adult Form; Apbd 57
Polyglucosan Body Disease, Adult 39

Characteristics:

Orphanet epidemiological data:

58
adult polyglucosan body disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: elderly;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset after age 40 years
loss of ambulation in mid-sixties
high frequency among individuals of ashkenazi jewish descent


HPO:

31
polyglucosan body neuropathy, adult form:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare hepatic diseases
Inborn errors of metabolism


Summaries for Polyglucosan Body Neuropathy, Adult Form

MedlinePlus Genetics : 43 Adult polyglucosan body disease (APBD) is a condition that affects the nervous system. People with APBD typically first experience signs and symptoms related to the condition between ages 35 and 60. Initial symptoms of the disorder include numbness and tingling in the legs (peripheral neuropathy) and progressive muscle weakness and stiffness (spasticity). As a result, affected individuals can have an unsteady gait, poor balance, and an increased risk of falling.Damage to the nerves that control bladder function, a condition called neurogenic bladder, is another feature that often occurs early in the course of APBD. Affected individuals have increasing difficulty starting or stopping the flow of urine.Eventually, most people with APBD lose the ability to control their bladder and bowel functions and their limbs. Damage to the autonomic nervous system, which controls body functions that are mostly involuntary, leads to problems with blood pressure, heart rate, breathing rate, digestion, temperature regulation, and sexual response, and results in daily bouts of exhaustion. About half of people with APBD experience a decline in intellectual function (dementia).

MalaCards based summary : Polyglucosan Body Neuropathy, Adult Form, also known as polyglucosan body disease, adult form, is related to gbe1 adult polyglucosan body disease and neurogenic bladder, and has symptoms including difficulty passing urine and upper motor neuron signs. An important gene associated with Polyglucosan Body Neuropathy, Adult Form is GBE1 (1,4-Alpha-Glucan Branching Enzyme 1). Affiliated tissues include liver, spinal cord and skeletal muscle, and related phenotypes are intellectual disability and spasticity

GARD : 20 Adult polyglucosan body disease (APBD) affects the nervous system. People with this disease usually begin to show signs after the age of 40. Signs and symptoms include trouble walking due to peripheral neuropathy and muscle weakness and stiffness. People with APBD also develop problems with bladder control due to damage to the bladder's nerves ( neurogenic bladder ). About half of people with APBD also develop dementia. APBD can be caused by mutations in the GBE1 gene and inheritance is autosomal recessive. In some cases, the cause is not known. Treatment aims to improve quality of life by controlling each symptom of the disease. APBD likely shortens life expectancy, but with symptom management and supportive care, people with APBD can have years of productive life.

OMIM® : 57 Adult polyglucosan body neuropathy is a late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of the disorder is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes (summary by Lossos et al., 1998). (263570) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Polyglucosan body neuropathy, adult form: A late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of APBN is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes.

Wikipedia : 73 Adult polyglucosan body disease (APBD) is an orphan disease and a glycogen storage disorder that is... more...

Related Diseases for Polyglucosan Body Neuropathy, Adult Form

Diseases related to Polyglucosan Body Neuropathy, Adult Form via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 gbe1 adult polyglucosan body disease 11.4
2 neurogenic bladder 10.6
3 neuropathy 10.6
4 peripheral nervous system disease 10.6
5 leukodystrophy 10.5
6 glycogen storage disease 10.5
7 polyneuropathy 10.4
8 axonal neuropathy 10.4
9 spastic paraparesis 10.4
10 amyotrophic lateral sclerosis 1 10.3
11 autosomal recessive disease 10.3
12 lateral sclerosis 10.3
13 autonomic dysfunction 10.3
14 mild cognitive impairment 10.2
15 motor peripheral neuropathy 10.2
16 paraplegia 10.2
17 pure autonomic failure 10.2
18 spasticity 10.2
19 alzheimer disease 10.1
20 parkinson disease, late-onset 10.1
21 triiodothyronine receptor auxiliary protein 10.1
22 myoclonic epilepsy of lafora 10.1
23 tay-sachs disease 10.1
24 proteinuria, chronic benign 10.1
25 parkinsonism 10.1
26 anhidrosis 10.1
27 respiratory failure 10.1
28 dementia 10.1
29 constipation 10.1
30 motor neuron disease 10.1
31 plexopathy 10.1
32 liver disease 10.1
33 muscular atrophy 10.1
34 cataract 10.1
35 vascular dementia 10.1
36 pathologic nystagmus 10.1
37 autosomal dominant leukodystrophy with autonomic disease 10.1
38 progressive myoclonus epilepsy, lafora type 10.1
39 athetosis 10.1
40 myoclonus epilepsy 10.1
41 cerebral atrophy 10.1
42 dysautonomia 10.1
43 myoclonus 10.1
44 tremor 10.1
45 glycogen storage disease iv 9.9
46 glycogen storage disease due to glycogen branching enzyme deficiency 9.9

Graphical network of the top 20 diseases related to Polyglucosan Body Neuropathy, Adult Form:



Diseases related to Polyglucosan Body Neuropathy, Adult Form

Symptoms & Phenotypes for Polyglucosan Body Neuropathy, Adult Form

Human phenotypes related to Polyglucosan Body Neuropathy, Adult Form:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
3 abnormal pyramidal sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0007256
4 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
5 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
6 hemiparesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001269
7 urinary incontinence 58 31 hallmark (90%) Very frequent (99-80%) HP:0000020
8 neurogenic bladder 58 31 hallmark (90%) Very frequent (99-80%) HP:0000011
9 urinary bladder sphincter dysfunction 58 31 hallmark (90%) Very frequent (99-80%) HP:0002839
10 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000708
11 skin ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0200042
12 distal sensory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002936
13 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
14 emg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0003457
15 abnormality of extrapyramidal motor function 58 31 occasional (7.5%) Occasional (29-5%) HP:0002071
16 limitation of joint mobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0001376
17 dementia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000726
18 orthostatic hypotension 31 occasional (7.5%) HP:0001278
19 cognitive impairment 31 HP:0100543
20 paresthesia 31 HP:0003401
21 peripheral neuropathy 58 Very frequent (99-80%)
22 spastic paraplegia 31 HP:0001258
23 abnormality of metabolism/homeostasis 31 HP:0001939
24 tetraparesis 31 HP:0002273
25 abnormality of the cerebral white matter 31 HP:0002500
26 peripheral axonal neuropathy 31 HP:0003477
27 abnormal upper motor neuron morphology 31 HP:0002127

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
gait disturbance
cognitive impairment
spastic paraplegia
neurogenic bladder
upper motor neuron signs
more
Genitourinary Bladder:
neurogenic bladder
micturition difficulties

Head And Neck Eyes:
saccadic movements (in some patients)

Neurologic Peripheral Nervous System:
distal sensory impairment
peripheral axonal neuropathy
paresthesias

Cardiovascular Vascular:
orthostatic hypotension (in some patients)

Laboratory Abnormalities:
decreased or absent glycogen branching enzyme activity

Clinical features from OMIM®:

263570 (Updated 20-May-2021)

UMLS symptoms related to Polyglucosan Body Neuropathy, Adult Form:


difficulty passing urine; upper motor neuron signs

Drugs & Therapeutics for Polyglucosan Body Neuropathy, Adult Form

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Treatment Trial of Triheptanoin in Patients With Adult Polyglucosan Body Disease - A Randomized Controlled Study Completed NCT00947960 Phase 2 Triheptanoin

Search NIH Clinical Center for Polyglucosan Body Neuropathy, Adult Form

Genetic Tests for Polyglucosan Body Neuropathy, Adult Form

Genetic tests related to Polyglucosan Body Neuropathy, Adult Form:

# Genetic test Affiliating Genes
1 Adult Polyglucosan Body Disease 29 GBE1

Anatomical Context for Polyglucosan Body Neuropathy, Adult Form

MalaCards organs/tissues related to Polyglucosan Body Neuropathy, Adult Form:

40
Liver, Spinal Cord, Skeletal Muscle, Brain, Skin

Publications for Polyglucosan Body Neuropathy, Adult Form

Articles related to Polyglucosan Body Neuropathy, Adult Form:

(show top 50) (show all 84)
# Title Authors PMID Year
1
A novel mouse model that recapitulates adult-onset glycogenosis type 4. 61 57
26385640 2015
2
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease. 57 61
25665141 2015
3
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. 61 57
23034915 2012
4
Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. 61 57
10762170 2000
5
Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. 57 61
9851430 1998
6
Dementia of adult polyglucosan body disease. Evidence of cortical and subcortical dysfunction. 57 61
8274116 1994
7
Glycogen branching enzyme deficiency in adult polyglucosan body disease. 61 57
8494336 1993
8
Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients. 61 57
1763891 1991
9
A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora's disease and normal ageing. 57 61
6249438 1980
10
Adult polysaccharidosis. Clinicopathological, ultrastructural, and biochemical features. 57
508148 1979
11
Presenile dementia with "Lafora-like" intraneuronal inclusions. 57
4111956 1971
12
Adult polyglucosan body disease: an acute presentation leading to unmasking of this rare disorder. 61
33412965 2021
13
Adult polyglucosan body disease-an atypical compound heterozygous with a novel GBE1 mutation. 61
33517539 2021
14
GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes. 61
33141444 2020
15
GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease. 61
33034425 2020
16
Adult polyglucosan body disease - Management and evolution in an intensive rehabilitation program. 61
33139012 2020
17
Triheptanoin Supplementation Does not Affect Nutritional Status: A Case Report of Two Siblings With Adult Polyglucosan Body Disease. 61
31860384 2020
18
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies. 61
31829048 2020
19
Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases. 61
31042462 2019
20
Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review. 61
30228975 2018
21
A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome. 61
29110179 2018
22
Guaiacol as a drug candidate for treating adult polyglucosan body disease. 61
30185673 2018
23
Adulthood leukodystrophies. 61
29302065 2018
24
A novel image-based high-throughput screening assay discovers therapeutic candidates for adult polyglucosan body disease. 61
28827282 2017
25
Triacylglycerol mimetics regulate membrane interactions of glycogen branching enzyme: implications for therapy. 61
28630259 2017
26
Teaching NeuroImages: Prominent spinal cord atrophy and white matter changes in adult polyglucosan body disease. 61
28507268 2017
27
Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease. 61
28265589 2017
28
Neural correlates of adaptive working memory training in a glycogen storage disease type-IV patient. 61
28275655 2017
29
Adult polyglucosan body disease presenting as a unilateral progressive plexopathy. 61
26789422 2016
30
Polyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease. 61
26670585 2016
31
Frequent misdiagnosis of adult polyglucosan body disease. 61
26194201 2015
32
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design. 61
26199317 2015
33
Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family. 61
25728520 2015
34
A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease. 61
25544507 2015
35
Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration. 61
24750115 2014
36
Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease. 61
24380807 2014
37
Branching enzyme deficiency: expanding the clinical spectrum. 61
24248152 2014
38
Adult-Onset Genetic Leukoencephalopathies. Focus on the More Recently Defined Forms. 61
25323877 2014
39
Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase. 61
23607684 2013
40
Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease. 61
23266647 2013
41
Childhood presentation of "adult" polyglucosan body disease: normal GBE1 sequence with no glycogen branching enzyme activity. 61
23526558 2013
42
Acute but transient neurological deterioration revealing adult polyglucosan body disease. 61
23146612 2013
43
Coexisting adult polyglucosan body disease with frontotemporal lobar degeneration with transactivation response DNA-binding protein-43 (TDP-43)-positive neuronal inclusions. 61
22506890 2013
44
The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background. 61
22943850 2012
45
Adult polyglucosan body disease masquerading as "ALS with dementia of the Alzheimer type": an exceptional phenotype in a rare pathology. 61
21572310 2012
46
Progress and problems in muscle glycogenoses. 61
22106711 2011
47
Adult polyglucosan body disease: a rare presentation with chronic liver disease and ground-glass hepatocellular inclusions. 61
21538287 2011
48
Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways. 61
20655781 2010
49
Parahippocampal corpora amylacea: case report. 61
20495392 2010
50
GBE1 Adult Polyglucosan Body Disease 61
20301758 2009

Variations for Polyglucosan Body Neuropathy, Adult Form

ClinVar genetic disease variations for Polyglucosan Body Neuropathy, Adult Form:

6 (show top 50) (show all 77)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GBE1 NM_000158.4(GBE1):c.784C>T (p.Arg262Cys) SNV Pathogenic 2791 rs137852893 GRCh37: 3:81692140-81692140
GRCh38: 3:81642989-81642989
2 GBE1 NM_000158.4(GBE1):c.785G>A (p.Arg262His) SNV Pathogenic 437422 rs369574719 GRCh37: 3:81692139-81692139
GRCh38: 3:81642988-81642988
3 GBE1 NM_000158.4(GBE1):c.691+2T>C SNV Pathogenic 208584 rs192044702 GRCh37: 3:81698005-81698005
GRCh38: 3:81648854-81648854
4 GBE1 NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) SNV Pathogenic 2777 rs80338671 GRCh37: 3:81691938-81691938
GRCh38: 3:81642787-81642787
5 GBE1 NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) SNV Pathogenic 2777 rs80338671 GRCh37: 3:81691938-81691938
GRCh38: 3:81642787-81642787
6 GBE1 NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) SNV Likely pathogenic 425301 rs552094593 GRCh37: 3:81586172-81586172
GRCh38: 3:81537021-81537021
7 GBE1 NM_000158.4(GBE1):c.*545G>C SNV Uncertain significance 903581 GRCh37: 3:81539013-81539013
GRCh38: 3:81489862-81489862
8 GBE1 NM_000158.4(GBE1):c.*44T>A SNV Uncertain significance 903646 GRCh37: 3:81539514-81539514
GRCh38: 3:81490363-81490363
9 GBE1 NM_000158.4(GBE1):c.*226T>C SNV Uncertain significance 901695 GRCh37: 3:81539332-81539332
GRCh38: 3:81490181-81490181
10 GBE1 NM_000158.4(GBE1):c.1454T>C (p.Val485Ala) SNV Uncertain significance 901759 GRCh37: 3:81627240-81627240
GRCh38: 3:81578089-81578089
11 GBE1 NM_000158.4(GBE1):c.692-6A>G SNV Uncertain significance 901280 GRCh37: 3:81695639-81695639
GRCh38: 3:81646488-81646488
12 GBE1 NM_000158.4(GBE1):c.665A>G (p.Asn222Ser) SNV Uncertain significance 901828 GRCh37: 3:81698033-81698033
GRCh38: 3:81648882-81648882
13 GBE1 NM_000158.4(GBE1):c.45G>A (p.Glu15=) SNV Uncertain significance 515221 rs370326965 GRCh37: 3:81810624-81810624
GRCh38: 3:81761473-81761473
14 GBE1 NM_000158.4(GBE1):c.23C>T (p.Ala8Val) SNV Uncertain significance 901896 GRCh37: 3:81810646-81810646
GRCh38: 3:81761495-81761495
15 GBE1 NM_000158.4(GBE1):c.1070A>G (p.Asp357Gly) SNV Uncertain significance 902665 GRCh37: 3:81643097-81643097
GRCh38: 3:81593946-81593946
16 GBE1 NM_000158.4(GBE1):c.556-6C>T SNV Uncertain significance 902732 GRCh37: 3:81698148-81698148
GRCh38: 3:81648997-81648997
17 GBE1 NM_000158.4(GBE1):c.15G>A (p.Met5Ile) SNV Uncertain significance 441107 rs62267114 GRCh37: 3:81810654-81810654
GRCh38: 3:81761503-81761503
18 GBE1 NM_000158.4(GBE1):c.-6C>G SNV Uncertain significance 902798 GRCh37: 3:81810674-81810674
GRCh38: 3:81761523-81761523
19 GBE1 NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) SNV Uncertain significance 577677 rs772802187 GRCh37: 3:81584455-81584455
GRCh38: 3:81535304-81535304
20 GBE1 NM_000158.4(GBE1):c.969T>C (p.Asp323=) SNV Uncertain significance 756651 rs555689284 GRCh37: 3:81691955-81691955
GRCh38: 3:81642804-81642804
21 GBE1 NM_000158.4(GBE1):c.292G>C (p.Val98Leu) SNV Uncertain significance 520678 rs762945205 GRCh37: 3:81754616-81754616
GRCh38: 3:81705465-81705465
22 GBE1 NM_000158.4(GBE1):c.1521T>C (p.Thr507=) SNV Uncertain significance 211070 rs372821643 GRCh37: 3:81627173-81627173
GRCh38: 3:81578022-81578022
23 GBE1 NM_000158.4(GBE1):c.1874T>G (p.Phe625Cys) SNV Uncertain significance 346784 rs769567764 GRCh37: 3:81584406-81584406
GRCh38: 3:81535255-81535255
24 GBE1 NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys) SNV Uncertain significance 346789 rs760661724 GRCh37: 3:81630356-81630356
GRCh38: 3:81581205-81581205
25 GBE1 NM_000158.4(GBE1):c.1392C>T (p.Leu464=) SNV Uncertain significance 346790 rs563241317 GRCh37: 3:81630370-81630370
GRCh38: 3:81581219-81581219
26 GBE1 NM_000158.4(GBE1):c.1286G>C (p.Gly429Ala) SNV Uncertain significance 547847 rs745594101 GRCh37: 3:81635292-81635292
GRCh38: 3:81586141-81586141
27 GBE1 NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) SNV Uncertain significance 548007 rs201758548 GRCh37: 3:81627202-81627202
GRCh38: 3:81578051-81578051
28 GBE1 NM_000158.4(GBE1):c.15G>A (p.Met5Ile) SNV Uncertain significance 441107 rs62267114 GRCh37: 3:81810654-81810654
GRCh38: 3:81761503-81761503
29 GBE1 NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) SNV Uncertain significance 548007 rs201758548 GRCh37: 3:81627202-81627202
GRCh38: 3:81578051-81578051
30 GBE1 NM_000158.4(GBE1):c.*468G>A SNV Uncertain significance 899981 GRCh37: 3:81539090-81539090
GRCh38: 3:81489939-81489939
31 GBE1 NM_000158.4(GBE1):c.1842T>A (p.Ile614=) SNV Uncertain significance 900054 GRCh37: 3:81584438-81584438
GRCh38: 3:81535287-81535287
32 GBE1 NM_000158.4(GBE1):c.998A>G (p.Glu333Gly) SNV Uncertain significance 900115 GRCh37: 3:81643169-81643169
GRCh38: 3:81594018-81594018
33 GBE1 NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) SNV Uncertain significance 371439 rs80338671 GRCh37: 3:81691938-81691938
GRCh38: 3:81642787-81642787
34 GBE1 NM_000158.4(GBE1):c.313+15G>A SNV Uncertain significance 390895 rs184391304 GRCh37: 3:81754580-81754580
GRCh38: 3:81705429-81705429
35 GBE1 NM_000158.4(GBE1):c.203A>T (p.Lys68Met) SNV Uncertain significance 900179 GRCh37: 3:81754705-81754705
GRCh38: 3:81705554-81705554
36 GBE1 NM_000158.4(GBE1):c.*460C>T SNV Uncertain significance 901149 GRCh37: 3:81539098-81539098
GRCh38: 3:81489947-81489947
37 GBE1 NM_000158.4(GBE1):c.*388T>A SNV Uncertain significance 901150 GRCh37: 3:81539170-81539170
GRCh38: 3:81490019-81490019
38 GBE1 NM_000158.4(GBE1):c.1676G>T (p.Ser559Ile) SNV Uncertain significance 901210 GRCh37: 3:81586189-81586189
GRCh38: 3:81537038-81537038
39 GBE1 NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) SNV Uncertain significance 374517 rs770427750 GRCh37: 3:81695565-81695565
GRCh38: 3:81646414-81646414
40 GBE1 NM_000158.4(GBE1):c.1581G>A (p.Thr527=) SNV Uncertain significance 346788 rs140571802 GRCh37: 3:81627113-81627113
GRCh38: 3:81577962-81577962
41 GBE1 NM_000158.4(GBE1):c.*598G>C SNV Uncertain significance 346774 rs886058898 GRCh37: 3:81538960-81538960
GRCh38: 3:81489809-81489809
42 GBE1 NM_000158.4(GBE1):c.144-7T>C SNV Uncertain significance 346796 rs886058902 GRCh37: 3:81754771-81754771
GRCh38: 3:81705620-81705620
43 GBE1 NM_000158.4(GBE1):c.1803G>A (p.Gln601=) SNV Uncertain significance 346786 rs368793136 GRCh37: 3:81586062-81586062
GRCh38: 3:81536911-81536911
44 GBE1 NM_000158.4(GBE1):c.*494A>C SNV Uncertain significance 346777 rs145934828 GRCh37: 3:81539064-81539064
GRCh38: 3:81489913-81489913
45 GBE1 NM_000158.4(GBE1):c.647A>G (p.Tyr216Cys) SNV Uncertain significance 346794 rs886058901 GRCh37: 3:81698051-81698051
GRCh38: 3:81648900-81648900
46 GBE1 NM_000158.4(GBE1):c.1237-15C>T SNV Uncertain significance 346791 rs376809475 GRCh37: 3:81635356-81635356
GRCh38: 3:81586205-81586205
47 GBE1 NM_000158.4(GBE1):c.721A>G (p.Met241Val) SNV Uncertain significance 346793 rs747155575 GRCh37: 3:81695604-81695604
GRCh38: 3:81646453-81646453
48 GBE1 NM_000158.4(GBE1):c.*395A>G SNV Uncertain significance 346779 rs138608612 GRCh37: 3:81539163-81539163
GRCh38: 3:81490012-81490012
49 GBE1 NM_000158.4(GBE1):c.*558T>C SNV Uncertain significance 346775 rs886058899 GRCh37: 3:81539000-81539000
GRCh38: 3:81489849-81489849
50 GBE1 NM_000158.3(GBE1):c.-195G>T SNV Uncertain significance 346798 rs886058904 GRCh37: 3:81810862-81810862
GRCh38: 3:81761711-81761711

UniProtKB/Swiss-Prot genetic disease variations for Polyglucosan Body Neuropathy, Adult Form:

72
# Symbol AA change Variation ID SNP ID
1 GBE1 p.Arg515His VAR_022433 rs201958741
2 GBE1 p.Arg524Gln VAR_022434 rs80338673

Expression for Polyglucosan Body Neuropathy, Adult Form

Search GEO for disease gene expression data for Polyglucosan Body Neuropathy, Adult Form.

Pathways for Polyglucosan Body Neuropathy, Adult Form

GO Terms for Polyglucosan Body Neuropathy, Adult Form

Sources for Polyglucosan Body Neuropathy, Adult Form

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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29 GTR
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