MCID: ADL060
MIFTS: 36

Adult Polyglucosan Body Disease malady

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

Aliases & Classifications for Adult Polyglucosan Body Disease

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Aliases & Descriptions for Adult Polyglucosan Body Disease:

Name: Adult Polyglucosan Body Disease 21 22 23 51
Apbd 45 22 23 51
 
Polyglucosan Body Disease, Adult Form 45 23 65
Polyglucosan Body Disease, Adult 45 24

Characteristics:

Orphanet epidemiological data:

51
adult polyglucosan body disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: elderly

Classifications:



External Ids:

Orphanet51 206583
ICD10 via Orphanet28 E74.0
UMLS65 C1849722

Summaries for Adult Polyglucosan Body Disease

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NIH Rare Diseases:45 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 apbd, is related to polyglucosan body disease, adult form and dementia, and has symptoms including pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria, impotence/painful erection/priapism/erection troubles and peripheral neuropathy. An important gene associated with Adult Polyglucosan Body Disease is GBE1 (Glucan (1,4-Alpha-), Branching Enzyme 1). Affiliated tissues include liver, skin and lung, and related mouse phenotype muscle.

Genetics Home Reference:23 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 summary for NBK5300

Related Diseases for Adult Polyglucosan Body Disease

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

idRelated DiseaseScoreTop Affiliating Genes
1polyglucosan body disease, adult form11.2
2dementia10.3
3neuronitis10.1
4liver disease10.0
5plexopathy10.0
6tremor10.0
7alpha-thalassemia x-linked intellectual disability syndrome9.5GBE1, TARDBP

Graphical network of diseases related to Adult Polyglucosan Body Disease:



Diseases related to adult polyglucosan body disease

Symptoms for Adult Polyglucosan Body Disease

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Symptoms:

 51 (show all 20)
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • impotence/painful erection/priapism/erection troubles
  • peripheral neuropathy
  • sphincter dysfunction
  • motor deficit/trouble
  • abnormal gait
  • pyramidal syndrome
  • hypertonia/spasticity/rigidity/stiffness
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • muscle weakness/flaccidity
  • autosomal recessive inheritance
  • chronic skin infection/ulcerations/ulcers/cancrum
  • sensitive trouble/deficit
  • psychic/behavioural troubles
  • ataxia/incoordination/trouble of the equilibrium
  • extrapyramidal syndrome
  • psychic/psychomotor regression/dementia/intellectual decline
  • abnormal emg/electromyogram/electropmyography
  • restricted joint mobility/joint stiffness/ankylosis

UMLS symptoms related to Adult Polyglucosan Body Disease:


upper motor neuron signs, difficulty passing urine

Drugs & Therapeutics for Adult Polyglucosan Body Disease

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

(show all 21)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
QS 21Phase 1, Phase 238141256-04-4
Synonyms:
 
Stimulon
2Adjuvants, ImmunologicPhase 1, Phase 21783
3Keyhole-limpet hemocyaninPhase 1, Phase 243
4VaccinesPhase 1, Phase 26085
5AntibodiesPhase 1, Phase 24477
6ImmunoglobulinsPhase 1, Phase 24477
7Immunologic FactorsPhase 1, Phase 218483
8
Topotecanapproved, investigationalPhase 1330119413-54-660700
Synonyms:
(4S)-10-[(dimethylamino)methyl]-4-ethyl-4,9-dihydroxy-1H-pyrano[3',4':6,7]indolizino[1,2-b]quinoline-3,14(4H,12H)-dione
(S)-10-((Dimethylamino)methyl)-4-ethyl-4,9-dihydroxy-1H-pyrano(3',4':6,7)indolizino(1,2-b)quinoline-3,14(4H,12H)-dione
(S)-10-[(DIMETHYLAMINO)METHYL]-4-ETHYL-4,9-DIHYDROXY-1H-PYRANO[3',4':6,7]INOLIZINO[1,2-B]-QUINOLINE-3,14(4H,12H)-DIONE
(S)-10-[(Dimethylamino)methyl]-4-ethyl-4,9-dihydroxy-1H-pyrano[3',4':6,7]indolizino[1,2-b]-quinoline-3,14(4H,12H)-dione
(S)-10-[(Dimethylamino)methyl]-4-ethyl-4,9-dihydroxy-1H-pyrano[3',4':6,7]indolizino[1,2-b]quinoline-3,14(4H,12H)-dione
123948-87-8
9-Dimethylaminomethyl-10-hydroxycamptothecin
9-[(dimethylamino)Methyl]-10-hydroxy-(4S)-camptothecin
AC-11592
AC1L1TQZ
AC1Q6APZ
BSPBio_002348
C11158
C23H23N3O5
CCRIS 8163
CHEBI:107501
CHEBI:46035
CHEMBL84
CID60700
D08618
DB01030
HMS2090B20
HSCI1_000228
Hycamptamine
Hycamptin
Hycamtamine
Hycamtin
Hycamtin (TN)
LS-127395
MLS000759456
 
NCGC00178695-01
NCI60_004771
NCIStruc1_001659
NCIStruc2_001796
NChemBio.2007.10-comp24
NSC609699
SK&F-104864-A
SKF 104864
SKF-104864-A
SKF-S 104864
SMP2_000312
SMP2_000327
SMR000466344
TOPO
TOPOTECAN, HYCAMTIN
TPT
TTC
Topotecan
Topotecan (BAN)
Topotecan Hcl
Topotecan Hydrochloride
Topotecan Lactone
Topotecan Monohydrochloride, (S)-Isomer
Topotecan [INN:BAN]
Topotecan lactone
Topotecane
Topotecane [INN-French]
Topotecanum
Topotecanum [INN-Latin]
UNII-7M7YKX2N15
topotecan
9
Vincristineapproved, investigationalPhase 18632068-78-2, 57-22-75978
Synonyms:
22-Oxovincaleukoblastin
22-Oxovincaleukoblastine
28379-27-3
57-22-7
AC1L1LJC
C07204
C46H56N4O10
CCRIS 5763
CHEBI:28445
CID5978
D08679
DB00541
EINECS 200-318-1
HMS2090E19
HSDB 3199
Indole alkaloid
LCR
LS-228
Leurocristine
Lilly 37231 (1:1 sulfate salt)
Liposomal Vincristine
Marqibo
NCGC00163700-01
NCI-C04864
NCI60_026703
NSC-67574
Onco TCS
 
Oncovin
Oncovin (1:1 sulfate salt)
Oncovine
Tecnocris
Tecnocris (TN)
UNII-5J49Q6B70F
VCR
VIN
Vincaleukoblastine, 22-oxo- 22-Oxovincaleukoblastine
Vincasar
Vincasar (1:1 sulfate salt)
Vincasar PFS
Vincrex
Vincrex (1:1 sulfate salt)
Vincristin
Vincristina
Vincristina [DCIT]
Vincristine (INN)
Vincristine Sulfate
Vincristine Sulfate PFS
Vincristine [INN:BAN]
Vincristinum
Vincristinum [INN-Latin]
Vincrstine
Vincrystine
Vinkristin
Z-D-Val-Lys(Z)-OH
vincristine
10
Cyclophosphamideapproved, investigationalPhase 1264350-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
DB00531
 
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
11Topoisomerase InhibitorsPhase 14081
12Tubulin ModulatorsPhase 14279
13topoisomerase I inhibitorsPhase 11131
14Antineoplastic Agents, PhytogenicPhase 14294
15Alkylating AgentsPhase 13582
16Immunosuppressive AgentsPhase 110422
17Antimitotic AgentsPhase 14296
18Antineoplastic Agents, AlkylatingPhase 13406
19Antirheumatic AgentsPhase 18496
20Insulin, Globin Zinc4278
21insulin4278

Interventional clinical trials:

idNameStatusNCT IDPhase
1Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body DiseaseCompletedNCT00947960Phase 2
2Bivalent Vaccine With Escalating Doses of the Immunological Adjuvant OPT-821, in Combination With Oral β-glucan for High-Risk NeuroblastomaRecruitingNCT00911560Phase 1, Phase 2
3Anti-GD2 3F8 Antibody and Allogeneic Natural Killer Cells for High-Risk NeuroblastomaRecruitingNCT00877110Phase 1
4Ketogenic Diet in Lafora DiseaseCompletedNCT00007124

Search NIH Clinical Center for Adult Polyglucosan Body Disease

Genetic Tests for Adult Polyglucosan Body Disease

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Genetic tests related to Adult Polyglucosan Body Disease:

id Genetic test Affiliating Genes
1 Adult Polyglucosan Body Disease22 GBE1

Anatomical Context for Adult Polyglucosan Body Disease

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MalaCards organs/tissues related to Adult Polyglucosan Body Disease:

33
Liver, Skin, Lung, Brain, Prostate, Colon, Placenta

Animal Models for Adult Polyglucosan Body Disease or affiliated genes

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MGI Mouse Phenotypes related to Adult Polyglucosan Body Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1GBE1, TARDBP

Publications for Adult Polyglucosan Body Disease

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Articles related to Adult Polyglucosan Body Disease:

(show all 43)
idTitleAuthorsYear
1
Adult polyglucosan body disease presenting as a unilateral progressive plexopathy. (26789422)
2016
2
Polyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease. (26670585)
2016
3
A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease. (25544507)
2015
4
Frequent misdiagnosis of adult polyglucosan body disease. (26194201)
2015
5
Deep Intronic GBE1 Mutation in Manifesting Heterozygous Patients With Adult Polyglucosan Body Disease. (25665141)
2015
6
Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family. (25728520)
2015
7
Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration. (24750115)
2014
8
Coexisting adult polyglucosan body disease with frontotemporal lobar degeneration with transactivation response DNA-binding protein-43 (TDP-43)-positive neuronal inclusions. (22506890)
2013
9
Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease. (24380807)
2013
10
Acute but transient neurological deterioration revealing adult polyglucosan body disease. (23146612)
2013
11
Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease. (23266647)
2013
12
Adult polyglucosan body disease masquerading as &quot;ALS with dementia of the Alzheimer type&quot;: 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&gt;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
Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. (10762170)
2000
28
Probable adult polyglucosan body disease. (11126844)
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
Adult Polyglucosan Body Disease (20301758)
1993
37
Glycogen branching enzyme deficiency in adult polyglucosan body disease. (8494336)
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

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Expression for genes affiliated with Adult Polyglucosan Body Disease

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

Pathways for genes affiliated with Adult Polyglucosan Body Disease

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GO Terms for genes affiliated with Adult Polyglucosan Body Disease

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Sources for Adult Polyglucosan Body Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet