MCID: ADL060
MIFTS: 34

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 hepatitis, 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 skin, liver and brain, 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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Graphical network of the top 20 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

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
Skin, Liver, Brain, Colon, Lung, Prostate, 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 41)
idTitleAuthorsYear
1
Immunoglobulin D Multiple Myeloma, Plasma Cell Leukemia and Chronic Myelogenous Leukemia in a Single Patient Treated Simultaneously with Lenalidomide, Bortezomib, Dexamethasone and Imatinib. (27103978)
2016
2
Pharmacologic Management of Pediatric Hypertension. (26597490)
2016
3
Nasal fluid release of eotaxin-3 and eotaxin-2 in persistent sinonasal eosinophilic inflammation. (24989688)
2014
4
Autosomal dominant hereditary optic neuropathy (ADOA): a review of the genetics and clinical manifestations of ADOA and ADOA+. (24138050)
2013
5
Safety and efficacy of pharmacologic thromboprophylaxis following blunt head injury: a systematic review. (24064878)
2013
6
Utility of serum DNA and pyrosequencing for the detection of EGFR mutations in non-small cell lung cancer. (23491080)
2013
7
Social communication mediates the relationship between emotion perception and externalizing behaviors in young adult survivors of pediatric traumatic brain injury (TBI). (24140241)
2013
8
Long-term follow-up of the &quot;wait and see&quot; approach to localized perinatal adrenal neuroblastoma. (23135423)
2013
9
Introduction to the special issue on organizational dynamics within substance abuse treatment: a complex human activity system. (22154828)
2012
10
Factors given by birth and oxygen therapy in relation to development of retinopathy of prematurity. (22924254)
2012
11
Early onset HER2-positive breast cancer is associated with germline TP53 mutations. (21761402)
2012
12
POTEH hypomethylation, a new epigenetic biomarker for glioma prognosis. (21439273)
2011
13
Genetic polymorphisms of CYP17A1, vitamin D receptor and androgen receptor in Italian heredo-familial and sporadic prostate cancers. (21094112)
2011
14
Role of Kupffer cells in vascular stress genes during trauma and sepsis. (19500797)
2010
15
Glucagon-like peptide-1 receptor gene polymorphism (Leu260Phe) is associated with morning cortisol in preschoolers. (20483198)
2010
16
Higher placental anti-inflammatory IL-10 cytokine expression in HIV-1 infected women receiving longer zidovudine prophylaxis associated with nevirapine. (19275589)
2009
17
Role of the syncytium in placenta-mediated complications of preeclampsia. (19535132)
2009
18
Levels of brain related proteins in cerebrospinal fluid: an aid in the differential diagnosis of parkinsonian disorders. (18562238)
2009
19
HFE modulates transferrin receptor 2 levels in hepatoma cells via interactions that differ from transferrin receptor 1-HFE interactions. (17956864)
2007
20
A new form of Oculocutaneous albinism, OCA4]. (16963427)
2006
21
Biotransformation of fluticasone: in vitro characterization. (16565171)
2006
22
Use of B-type natriuretic peptide in the management of acute dyspnea in patients with pulmonary disease. (16442916)
2006
23
Paget's disease of bone]. (16972687)
2006
24
Recent studies on vitamin D metabolizing enzymes]. (16816472)
2006
25
Association of tumor necrosis factor polymorphisms with asthma and serum total IgE. (14681301)
2004
26
Lambert-Eaton myasthenic syndrome. (15034474)
2004
27
Sensitive noninvasive monitoring of tumor perfusion during antiangiogenic therapy by intermittent bolus-contrast power Doppler sonography. (14678984)
2003
28
Human DNA polymerase mu (Pol mu) exhibits an unusual replication slippage ability at AAF lesion. (11972346)
2002
29
Structural varieties of small proteoglycans in human spinal ligament. (11913492)
2001
30
Serine proteinase inhibition by the active site titrant N alpha-(N, N-dimethylcarbamoyl)-alpha-azaornithine p-nitrophenyl ester. A comparative study. (10672036)
2000
31
Expression, processing, and immunogenicity of the structural proteins of Venezuelan equine encephalitis virus from recombinant baculovirus vectors. (10195627)
1999
32
Projections of nitric oxide synthase and vasoactive intestinal polypeptide-reactive submucosal neurons in the human colon. (10634154)
1999
33
A new set of primers for mutation analysis of the human PAX6 gene. (9671274)
1998
34
Concerted evolution of mammalian cardiac myosin heavy chain genes. (7563114)
1995
35
RAS and FMS mutations following cytotoxic therapy for childhood acute lymphoblastic leukaemia. (7885045)
1995
36
DNA polymorphisms in the alpha 2- and beta 2-adrenoceptor genes and regional fat distribution in humans: association and linkage studies. (7627773)
1995
37
Correlation of proteolytic cleavage of F protein precursors in paramyxoviruses with expression of the fur, PACE4 and PC6 genes in mammalian cells. (7931173)
1994
38
Molecular mechanisms of posterior vitreous detachment. (8104849)
1993
39
Expression of integrins and basement membrane components by wound keratinocytes. (8376596)
1993
40
Review of mupirocin ointment in the treatment of impetigo. (1468173)
1992
41
Surgery of chagasic megacolon. (1903231)
1991

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