MCID: ADL060
MIFTS: 31

Adult Polyglucosan Body Disease

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Adult Polyglucosan Body Disease

MalaCards integrated aliases for Adult Polyglucosan Body Disease:

Name: Adult Polyglucosan Body Disease 24 53 25
Polyglucosan Body Disease, Adult Form 53 25 73
Polyglucosan Body Disease, Adult 29 6 40
Apbd 53 25
Polyglucosan Body Neuropathy, Adult Form 53
Apbn 53

Classifications:



Summaries for Adult Polyglucosan Body Disease

NIH Rare Diseases : 53 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.

MalaCards based summary : Adult Polyglucosan Body Disease, also known as polyglucosan body disease, adult form, is related to polyglucosan body neuropathy, adult form and dementia, and has symptoms including difficulty passing urine and upper motor neuron signs. An important gene associated with Adult Polyglucosan Body Disease is GBE1 (1,4-Alpha-Glucan Branching Enzyme 1). Affiliated tissues include skin, spinal cord and brain, and related phenotypes are neurogenic bladder and urinary incontinence

Genetics Home Reference : 25 Adult polyglucosan body disease is a condition that affects the nervous system. People with this condition have problems walking due to reduced sensation in their legs (peripheral neuropathy) and progressive muscle weakness and stiffness (spasticity). Damage to the nerves that control bladder function, a condition called neurogenic bladder, causes affected individuals to have progressive difficulty controlling the flow of urine. About half of people with adult polyglucosan body disease experience a decline in intellectual function (dementia).

GeneReviews: NBK5300

Related Diseases for Adult Polyglucosan Body Disease

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

# Related Disease Score Top Affiliating Genes
1 polyglucosan body neuropathy, adult form 11.8
2 dementia 10.2
3 neuronitis 10.1
4 aging 9.9
5 liver disease 9.9
6 plexopathy 9.9
7 tremor 9.9

Graphical network of the top 20 diseases related to Adult Polyglucosan Body Disease:



Diseases related to Adult Polyglucosan Body Disease

Symptoms & Phenotypes for Adult Polyglucosan Body Disease

Human phenotypes related to Adult Polyglucosan Body Disease:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 neurogenic bladder 32 hallmark (90%) HP:0000011
2 urinary incontinence 32 hallmark (90%) HP:0000020
3 behavioral abnormality 32 frequent (33%) HP:0000708
4 dementia 32 occasional (7.5%) HP:0000726
5 intellectual disability 32 hallmark (90%) HP:0001249
6 ataxia 32 occasional (7.5%) HP:0001251
7 spasticity 32 hallmark (90%) HP:0001257
8 hemiparesis 32 hallmark (90%) HP:0001269
9 gait disturbance 32 hallmark (90%) HP:0001288
10 muscle weakness 32 hallmark (90%) HP:0001324
11 limitation of joint mobility 32 occasional (7.5%) HP:0001376
12 abnormality of extrapyramidal motor function 32 occasional (7.5%) HP:0002071
13 urinary bladder sphincter dysfunction 32 hallmark (90%) HP:0002839
14 distal sensory impairment 32 frequent (33%) HP:0002936
15 emg abnormality 32 occasional (7.5%) HP:0003457
16 abnormal pyramidal signs 32 hallmark (90%) HP:0007256
17 skin ulcer 32 frequent (33%) HP:0200042

UMLS symptoms related to Adult Polyglucosan Body Disease:


difficulty passing urine, upper motor neuron signs

MGI Mouse Phenotypes related to Adult Polyglucosan Body Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.62 TARDBP GBE1

Drugs & Therapeutics for Adult Polyglucosan Body Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease Completed NCT00947960 Phase 2 Triheptanoin

Search NIH Clinical Center for Adult Polyglucosan Body Disease

Genetic Tests for Adult Polyglucosan Body Disease

Genetic tests related to Adult Polyglucosan Body Disease:

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

Anatomical Context for Adult Polyglucosan Body Disease

MalaCards organs/tissues related to Adult Polyglucosan Body Disease:

41
Skin, Spinal Cord, Brain, Liver

Publications for Adult Polyglucosan Body Disease

Articles related to Adult Polyglucosan Body Disease:

(show all 47)
# Title Authors Year
1
Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease. ( 28265589 )
2017
2
A novel image-based high-throughput screening assay discovers therapeutic candidates for adult polyglucosan body disease. ( 28827282 )
2017
3
Teaching NeuroImages: Prominent spinal cord atrophy and white matter changes in adult polyglucosan body disease. ( 28507268 )
2017
4
A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome. ( 29110179 )
2017
5
Polyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease. ( 26670585 )
2016
6
Adult polyglucosan body disease presenting as a unilateral progressive plexopathy. ( 26789422 )
2016
7
Frequent misdiagnosis of adult polyglucosan body disease. ( 26194201 )
2015
8
A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease. ( 25544507 )
2015
9
Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family. ( 25728520 )
2015
10
Deep Intronic GBE1 Mutation in Manifesting Heterozygous Patients With Adult Polyglucosan Body Disease. ( 25665141 )
2015
11
Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration. ( 24750115 )
2014
12
Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease. ( 23266647 )
2013
13
Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease. ( 24380807 )
2013
14
Coexisting adult polyglucosan body disease with frontotemporal lobar degeneration with transactivation response DNA-binding protein-43 (TDP-43)-positive neuronal inclusions. ( 22506890 )
2013
15
Acute but transient neurological deterioration revealing adult polyglucosan body disease. ( 23146612 )
2013
16
Adult polyglucosan body disease masquerading as "ALS with dementia of the Alzheimer type": an exceptional phenotype in a rare pathology. ( 21572310 )
2012
17
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. ( 23034915 )
2012
18
The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background. ( 22943850 )
2012
19
Adult polyglucosan body disease: a rare presentation with chronic liver disease and ground-glass hepatocellular inclusions. ( 21538287 )
2011
20
Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways. ( 20655781 )
2010
21
Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene. ( 17994551 )
2008
22
Immunohistochemical and ultrastructural changes in the brain in probable adult glycogenosis type IV: adult polyglucosan body disease. ( 18825592 )
2008
23
Stable neuropsychological deficits in adult polyglucosan body disease. ( 16730990 )
2007
24
A case of adult polyglucosan body disease. ( 17722245 )
2007
25
Adult polyglucosan body disease: a case report of a manifesting heterozygote. ( 16007674 )
2005
26
Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome. ( 14755501 )
2004
27
Adult polyglucosan body disease: a postmortem correlation study. ( 12874416 )
2003
28
Adult polyglucosan body disease associated with lewy bodies and tremor. ( 12756142 )
2003
29
Adult polyglucosan body disease. ( 11260627 )
2001
30
Extensive white-matter changes in case of adult polyglucosan body disease. ( 11305757 )
2001
31
Probable adult polyglucosan body disease. ( 11126844 )
2000
32
Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. ( 10762170 )
2000
33
Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. ( 9851430 )
1998
34
Adult polyglucosan body disease associated with an extrapyramidal syndrome. ( 9810960 )
1998
35
Familial dementia due to adult polyglucosan body disease. ( 9266150 )
1997
36
Sevoflurane anaesthesia for a patient with adult polyglucosan body disease. ( 8955978 )
1996
37
Dementia of frontal lobe type due to adult polyglucosan body disease. ( 8530979 )
1995
38
Adult polyglucosan body disease. ( 7922101 )
1994
39
Dementia of adult polyglucosan body disease. Evidence of cortical and subcortical dysfunction. ( 8274116 )
1994
40
Glycogen branching enzyme deficiency in adult polyglucosan body disease. ( 8494336 )
1993
41
Adult Polyglucosan Body Disease ( 20301758 )
1993
42
Spinal cord MRI in adult polyglucosan body disease. ( 1522280 )
1992
43
Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients. ( 1763891 )
1991
44
Adult polyglucosan body disease: the diagnostic value of axilla skin biopsy. ( 1656844 )
1991
45
Adult polyglucosan body disease: clinical and nerve biopsy findings in two cases. ( 6301360 )
1983
46
A type of adult polyglucosan body disease. ( 6814164 )
1982
47
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. ( 6249438 )
1980

Variations for Adult Polyglucosan Body Disease

ClinVar genetic disease variations for Adult Polyglucosan Body Disease:

6
(show top 50) (show all 70)
# Gene Variation Type Significance SNP ID Assembly Location
1 GBE1 NM_000158.3(GBE1): c.986A> C (p.Tyr329Ser) single nucleotide variant Pathogenic rs80338671 GRCh37 Chromosome 3, 81691938: 81691938
2 GBE1 NM_000158.3(GBE1): c.986A> C (p.Tyr329Ser) single nucleotide variant Pathogenic rs80338671 GRCh38 Chromosome 3, 81642787: 81642787
3 GBE1 NM_000158.3(GBE1): c.784C> T (p.Arg262Cys) single nucleotide variant Pathogenic rs137852893 GRCh37 Chromosome 3, 81692140: 81692140
4 GBE1 NM_000158.3(GBE1): c.784C> T (p.Arg262Cys) single nucleotide variant Pathogenic rs137852893 GRCh38 Chromosome 3, 81642989: 81642989
5 GBE1 NM_000158.3(GBE1): c.1544G> A (p.Arg515His) single nucleotide variant Pathogenic/Likely pathogenic rs201958741 GRCh37 Chromosome 3, 81627150: 81627150
6 GBE1 NM_000158.3(GBE1): c.1544G> A (p.Arg515His) single nucleotide variant Pathogenic/Likely pathogenic rs201958741 GRCh38 Chromosome 3, 81577999: 81577999
7 GBE1 NM_000158.3(GBE1): c.568A> G (p.Arg190Gly) single nucleotide variant Benign rs2229519 GRCh37 Chromosome 3, 81698130: 81698130
8 GBE1 NM_000158.3(GBE1): c.568A> G (p.Arg190Gly) single nucleotide variant Benign rs2229519 GRCh38 Chromosome 3, 81648979: 81648979
9 GBE1 NM_000158.3(GBE1): c.1716C> T (p.Asp572=) single nucleotide variant Benign/Likely benign rs2229520 GRCh37 Chromosome 3, 81586149: 81586149
10 GBE1 NM_000158.3(GBE1): c.1716C> T (p.Asp572=) single nucleotide variant Benign/Likely benign rs2229520 GRCh38 Chromosome 3, 81536998: 81536998
11 GBE1 NM_000158.3(GBE1): c.1519A> G (p.Thr507Ala) single nucleotide variant Benign/Likely benign rs2228389 GRCh37 Chromosome 3, 81627175: 81627175
12 GBE1 NM_000158.3(GBE1): c.1519A> G (p.Thr507Ala) single nucleotide variant Benign/Likely benign rs2228389 GRCh38 Chromosome 3, 81578024: 81578024
13 GBE1 NM_000158.3(GBE1): c.839G> A (p.Gly280Asp) single nucleotide variant Benign/Likely benign rs28763902 GRCh37 Chromosome 3, 81692085: 81692085
14 GBE1 NM_000158.3(GBE1): c.839G> A (p.Gly280Asp) single nucleotide variant Benign/Likely benign rs28763902 GRCh38 Chromosome 3, 81642934: 81642934
15 GBE1 NM_000158.3(GBE1): c.579G> A (p.Lys193=) single nucleotide variant Benign rs17019144 GRCh37 Chromosome 3, 81698119: 81698119
16 GBE1 NM_000158.3(GBE1): c.579G> A (p.Lys193=) single nucleotide variant Benign rs17019144 GRCh38 Chromosome 3, 81648968: 81648968
17 GBE1 NM_000158.3(GBE1): c.342C> T (p.Tyr114=) single nucleotide variant Benign rs13320194 GRCh37 Chromosome 3, 81720076: 81720076
18 GBE1 NM_000158.3(GBE1): c.342C> T (p.Tyr114=) single nucleotide variant Benign rs13320194 GRCh38 Chromosome 3, 81670925: 81670925
19 GBE1 NM_000158.3(GBE1): c.176T> C (p.Ile59Thr) single nucleotide variant Benign/Likely benign rs28763904 GRCh37 Chromosome 3, 81754732: 81754732
20 GBE1 NM_000158.3(GBE1): c.176T> C (p.Ile59Thr) single nucleotide variant Benign/Likely benign rs28763904 GRCh38 Chromosome 3, 81705581: 81705581
21 GBE1 NM_000158.3(GBE1): c.143+10G> T single nucleotide variant Benign/Likely benign rs9820490 GRCh37 Chromosome 3, 81810516: 81810516
22 GBE1 NM_000158.3(GBE1): c.143+10G> T single nucleotide variant Benign/Likely benign rs9820490 GRCh38 Chromosome 3, 81761365: 81761365
23 GBE1 NM_000158.3(GBE1): c.1581G> A (p.Thr527=) single nucleotide variant Uncertain significance rs140571802 GRCh38 Chromosome 3, 81577962: 81577962
24 GBE1 NM_000158.3(GBE1): c.1581G> A (p.Thr527=) single nucleotide variant Uncertain significance rs140571802 GRCh37 Chromosome 3, 81627113: 81627113
25 GBE1 NM_000158.3(GBE1): c.1406A> G (p.Tyr469Cys) single nucleotide variant Uncertain significance rs760661724 GRCh38 Chromosome 3, 81581205: 81581205
26 GBE1 NM_000158.3(GBE1): c.1406A> G (p.Tyr469Cys) single nucleotide variant Uncertain significance rs760661724 GRCh37 Chromosome 3, 81630356: 81630356
27 GBE1 NM_000158.3(GBE1): c.647A> G (p.Tyr216Cys) single nucleotide variant Uncertain significance rs886058901 GRCh38 Chromosome 3, 81648900: 81648900
28 GBE1 NM_000158.3(GBE1): c.647A> G (p.Tyr216Cys) single nucleotide variant Uncertain significance rs886058901 GRCh37 Chromosome 3, 81698051: 81698051
29 GBE1 NM_000158.3(GBE1): c.-102C> T single nucleotide variant Likely benign rs886058903 GRCh38 Chromosome 3, 81761618: 81761618
30 GBE1 NM_000158.3(GBE1): c.-102C> T single nucleotide variant Likely benign rs886058903 GRCh37 Chromosome 3, 81810769: 81810769
31 GBE1 NM_000158.3(GBE1): c.*558T> C single nucleotide variant Uncertain significance rs886058899 GRCh38 Chromosome 3, 81489849: 81489849
32 GBE1 NM_000158.3(GBE1): c.*558T> C single nucleotide variant Uncertain significance rs886058899 GRCh37 Chromosome 3, 81539000: 81539000
33 GBE1 NM_000158.3(GBE1): c.*466G> A single nucleotide variant Uncertain significance rs571158601 GRCh38 Chromosome 3, 81489941: 81489941
34 GBE1 NM_000158.3(GBE1): c.*466G> A single nucleotide variant Uncertain significance rs571158601 GRCh37 Chromosome 3, 81539092: 81539092
35 GBE1 NM_000158.3(GBE1): c.*176G> A single nucleotide variant Benign rs846 GRCh38 Chromosome 3, 81490231: 81490231
36 GBE1 NM_000158.3(GBE1): c.*176G> A single nucleotide variant Benign rs846 GRCh37 Chromosome 3, 81539382: 81539382
37 GBE1 NM_000158.3(GBE1): c.1874T> G (p.Phe625Cys) single nucleotide variant Uncertain significance rs769567764 GRCh38 Chromosome 3, 81535255: 81535255
38 GBE1 NM_000158.3(GBE1): c.1874T> G (p.Phe625Cys) single nucleotide variant Uncertain significance rs769567764 GRCh37 Chromosome 3, 81584406: 81584406
39 GBE1 NM_000158.3(GBE1): c.1392C> T (p.Leu464=) single nucleotide variant Uncertain significance rs563241317 GRCh38 Chromosome 3, 81581219: 81581219
40 GBE1 NM_000158.3(GBE1): c.1392C> T (p.Leu464=) single nucleotide variant Uncertain significance rs563241317 GRCh37 Chromosome 3, 81630370: 81630370
41 GBE1 NM_000158.3(GBE1): c.*395A> G single nucleotide variant Uncertain significance rs138608612 GRCh38 Chromosome 3, 81490012: 81490012
42 GBE1 NM_000158.3(GBE1): c.*395A> G single nucleotide variant Uncertain significance rs138608612 GRCh37 Chromosome 3, 81539163: 81539163
43 GBE1 NM_000158.3(GBE1): c.1803G> A (p.Gln601=) single nucleotide variant Uncertain significance rs368793136 GRCh38 Chromosome 3, 81536911: 81536911
44 GBE1 NM_000158.3(GBE1): c.1803G> A (p.Gln601=) single nucleotide variant Uncertain significance rs368793136 GRCh37 Chromosome 3, 81586062: 81586062
45 GBE1 NM_000158.3(GBE1): c.859G> C (p.Val287Leu) single nucleotide variant Uncertain significance rs116899644 GRCh38 Chromosome 3, 81642914: 81642914
46 GBE1 NM_000158.3(GBE1): c.859G> C (p.Val287Leu) single nucleotide variant Uncertain significance rs116899644 GRCh37 Chromosome 3, 81692065: 81692065
47 GBE1 NM_000158.3(GBE1): c.144-7T> C single nucleotide variant Uncertain significance rs886058902 GRCh38 Chromosome 3, 81705620: 81705620
48 GBE1 NM_000158.3(GBE1): c.144-7T> C single nucleotide variant Uncertain significance rs886058902 GRCh37 Chromosome 3, 81754771: 81754771
49 GBE1 NM_000158.3(GBE1): c.*598G> C single nucleotide variant Uncertain significance rs886058898 GRCh38 Chromosome 3, 81489809: 81489809
50 GBE1 NM_000158.3(GBE1): c.*598G> C single nucleotide variant Uncertain significance rs886058898 GRCh37 Chromosome 3, 81538960: 81538960

Expression for Adult Polyglucosan Body Disease

Search GEO for disease gene expression data for Adult Polyglucosan Body Disease.

Pathways for Adult Polyglucosan Body Disease

GO Terms for Adult Polyglucosan Body Disease

Sources for Adult Polyglucosan Body Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
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31 HMDB
32 HPO
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34 ICD10 via Orphanet
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45 MESH via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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