APBD
MCID: ADL060
MIFTS: 33

Adult Polyglucosan Body Disease (APBD) malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Adult Polyglucosan Body Disease

Aliases & Descriptions for Adult Polyglucosan Body Disease:

Name: Adult Polyglucosan Body Disease 23 24 25
Polyglucosan Body Disease, Adult Form 50 25 69
Apbd 50 24 25
Polyglucosan Body Disease, Adult 50 29

Classifications:



Summaries for Adult Polyglucosan Body Disease

NIH Rare Diseases : 50 polyglucosan body disease affects the nervous system. individuals with this condition usually begin to show signs of the disorder after the age of 40. signs and symptoms include trouble walking due to decreased sensation in the legs (peripheral neuropathy) and muscle weakness and stiffness (spasticity). individuals may also have trouble controlling bladder function as a result of damage to the nerves of the bladder (neurogenic bladder). approximately half of the individuals with adult polyglucosan body disease also experience some degree of intellectual impairment. mutations in the gbe1 gene can cause adult polyglucosan body disease. in some cases, no mutation can be found and the cause of the disease is not known. adult polyglucosan body disease is thought to be inherited in an autosomal recessive manner. treatment usually involves a team of specialists who can address the specific symptoms such as walking difficulties, incontinence, and intellectual impairment. last updated: 9/22/2015

MalaCards based summary : Adult Polyglucosan Body Disease, also known as polyglucosan body disease, adult form, is related to polyglucosan body disease, adult form and dementia, and has symptoms including ataxia, abnormality of extrapyramidal motor function and muscle weakness. An important gene associated with Adult Polyglucosan Body Disease is GBE1 (1,4-Alpha-Glucan Branching Enzyme 1). The drugs Adjuvants, Immunologic and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and liver, and related phenotype is muscle.

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).

Wikipedia : 71 Adult polyglucosan body disease (APBD) is an orphan disease and a glycogen storage disorder that is... more...

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:

id Related Disease Score Top Affiliating Genes
1 polyglucosan body disease, adult form 11.3
2 dementia 10.1
3 neuronitis 10.0
4 bap1 tumor predisposition syndrome 9.8 GBE1 TARDBP
5 liver disease 9.8
6 plexopathy 9.8
7 tremor 9.8

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

UMLS symptoms related to Adult Polyglucosan Body Disease:


difficulty passing urine, upper motor neuron signs

MGI Mouse Phenotypes related to Adult Polyglucosan Body Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.62 GBE1 TARDBP

Drugs & Therapeutics for Adult Polyglucosan Body Disease

Drugs for Adult Polyglucosan Body Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Adjuvants, Immunologic Phase 1, Phase 2
2 Vaccines Phase 1, Phase 2
3 Immunoglobulins Phase 1, Phase 2
4 Keyhole-limpet hemocyanin Phase 1, Phase 2
5
QS 21 Phase 1, Phase 2 141256-04-4
6 Antibodies Phase 1, Phase 2
7
Vincristine Approved, Investigational Phase 1 2068-78-2, 57-22-7 5978
8
Topotecan Approved, Investigational Phase 1 119413-54-6, 123948-87-8 60700
9
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
10 Alkylating Agents Phase 1
11 topoisomerase I inhibitors Phase 1
12 Topoisomerase Inhibitors Phase 1
13 Immunosuppressive Agents Phase 1
14 Antimitotic Agents Phase 1
15 Antirheumatic Agents Phase 1
16 Antineoplastic Agents, Alkylating Phase 1
17 Antineoplastic Agents, Phytogenic Phase 1
18 insulin
19 Hypoglycemic Agents
20 Insulin, Globin Zinc

Interventional clinical trials:


id Name Status NCT ID Phase
1 Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease Completed NCT00947960 Phase 2
2 Bivalent Vaccine With Escalating Doses of the Immunological Adjuvant OPT-821, in Combination With Oral β-glucan for High-Risk Neuroblastoma Recruiting NCT00911560 Phase 1, Phase 2
3 Anti-GD2 3F8 Antibody and Allogeneic Natural Killer Cells for High-Risk Neuroblastoma Active, not recruiting NCT00877110 Phase 1
4 Ketogenic Diet in Lafora Disease Completed NCT00007124
5 Effects of (1,3), (1,6)-Beta-D-glucan on Insulin Sensitivity and Inflammatory Markers of the Metabolic Syndrome Completed NCT00403689

Search NIH Clinical Center for Adult Polyglucosan Body Disease

Genetic Tests for Adult Polyglucosan Body Disease

Genetic tests related to Adult Polyglucosan Body Disease:

id Genetic test Affiliating Genes
1 Polyglucosan Body Disease, Adult 29
2 Adult Polyglucosan Body Disease 24 GBE1

Anatomical Context for Adult Polyglucosan Body Disease

MalaCards organs/tissues related to Adult Polyglucosan Body Disease:

39
Skin, Brain, Liver, Spinal Cord

Publications for Adult Polyglucosan Body Disease

Articles related to Adult Polyglucosan Body Disease:

(show all 43)
id Title Authors Year
1
Polyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease. ( 26670585 )
2016
2
Adult polyglucosan body disease presenting as a unilateral progressive plexopathy. ( 26789422 )
2016
3
Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family. ( 25728520 )
2015
4
Deep Intronic GBE1 Mutation in Manifesting Heterozygous Patients With Adult Polyglucosan Body Disease. ( 25665141 )
2015
5
A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease. ( 25544507 )
2015
6
Frequent misdiagnosis of adult polyglucosan body disease. ( 26194201 )
2015
7
Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration. ( 24750115 )
2014
8
Acute but transient neurological deterioration revealing adult polyglucosan body disease. ( 23146612 )
2013
9
Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease. ( 24380807 )
2013
10
Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease. ( 23266647 )
2013
11
Coexisting adult polyglucosan body disease with frontotemporal lobar degeneration with transactivation response DNA-binding protein-43 (TDP-43)-positive neuronal inclusions. ( 22506890 )
2013
12
Adult polyglucosan body disease masquerading as "ALS with dementia of the Alzheimer type": an exceptional phenotype in a rare pathology. ( 21572310 )
2012
13
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. ( 23034915 )
2012
14
The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background. ( 22943850 )
2012
15
Adult polyglucosan body disease: a rare presentation with chronic liver disease and ground-glass hepatocellular inclusions. ( 21538287 )
2011
16
Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways. ( 20655781 )
2010
17
Immunohistochemical and ultrastructural changes in the brain in probable adult glycogenosis type IV: adult polyglucosan body disease. ( 18825592 )
2008
18
Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene. ( 17994551 )
2008
19
A case of adult polyglucosan body disease. ( 17722245 )
2007
20
Stable neuropsychological deficits in adult polyglucosan body disease. ( 16730990 )
2007
21
Adult polyglucosan body disease: a case report of a manifesting heterozygote. ( 16007674 )
2005
22
Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome. ( 14755501 )
2004
23
Adult polyglucosan body disease associated with lewy bodies and tremor. ( 12756142 )
2003
24
Adult polyglucosan body disease: a postmortem correlation study. ( 12874416 )
2003
25
Extensive white-matter changes in case of adult polyglucosan body disease. ( 11305757 )
2001
26
Adult polyglucosan body disease. ( 11260627 )
2001
27
Probable adult polyglucosan body disease. ( 11126844 )
2000
28
Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. ( 10762170 )
2000
29
Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. ( 9851430 )
1998
30
Adult polyglucosan body disease associated with an extrapyramidal syndrome. ( 9810960 )
1998
31
Familial dementia due to adult polyglucosan body disease. ( 9266150 )
1997
32
Sevoflurane anaesthesia for a patient with adult polyglucosan body disease. ( 8955978 )
1996
33
Dementia of frontal lobe type due to adult polyglucosan body disease. ( 8530979 )
1995
34
Dementia of adult polyglucosan body disease. Evidence of cortical and subcortical dysfunction. ( 8274116 )
1994
35
Adult polyglucosan body disease. ( 7922101 )
1994
36
Glycogen branching enzyme deficiency in adult polyglucosan body disease. ( 8494336 )
1993
37
Adult Polyglucosan Body Disease ( 20301758 )
1993
38
Spinal cord MRI in adult polyglucosan body disease. ( 1522280 )
1992
39
Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients. ( 1763891 )
1991
40
Adult polyglucosan body disease: the diagnostic value of axilla skin biopsy. ( 1656844 )
1991
41
Adult polyglucosan body disease: clinical and nerve biopsy findings in two cases. ( 6301360 )
1983
42
A type of adult polyglucosan body disease. ( 6814164 )
1982
43
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
id Gene Variation Type Significance SNP ID Assembly Location
1 GBE1 NM_000158.3(GBE1): c.1544G> A (p.Arg515His) single nucleotide variant Pathogenic rs201958741 GRCh37 Chromosome 3, 81627150: 81627150

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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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