APBD
MCID: ADL060
MIFTS: 38

Adult Polyglucosan Body Disease (APBD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Liver diseases categories
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Summaries for Adult Polyglucosan Body Disease

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Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Polyglucosan body disease is a slowly progressive metabolic disorder. it is caused by excessive accumulation of polyglucosan bodies in tissues, including nerve, muscle, liver, kidney, and lung. the disease can cause neurogenic bladder, dementia, loss of feeling in the lower limbs, and upper and lower motor neuron dysfunction. a variety of different biochemical defects may cause polyglucosan body disease. glycogen branching enzyme (gbe) deficiency has been identified as the cause in some patients. treatment of people with polyglucosan body disease is generally supportive, addressing symptoms such as walking impairment, incontinence, and dementia. last updated: 12/2/2008

MalaCards: Adult Polyglucosan Body Disease, also known as polyglucosan body disease, adult form, is related to dementia and neuronitis, and has symptoms including psychic/behavioural troubles, ataxia/incoordination/trouble of the equilibrium and extrapyramidal syndrome. An important gene associated with Adult Polyglucosan Body Disease is GBE1 (glucan (1,4-alpha-), branching enzyme 1). Affiliated tissues include liver, lung and kidney, and related mouse phenotypes are nervous system and muscle.

Genetics Home Reference:21 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).

Description from OMIM:47 263570

GeneReviews summary for apbd

Aliases & Classifications for Adult Polyglucosan Body Disease

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Sources:
62UMLS, 19GeneReviews, 21Genetics Home Reference, 49Orphanet, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Liver diseases


Characteristics (Orphanet epidemiological data):

49
adult polyglucosan body disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Adulthood; Age of death: Elderly


Aliases & Descriptions:

adult polyglucosan body disease 19 21 49
polyglucosan body disease, adult form 43 21 47 62
polyglucosan body disease, adult 43 20 22
apbd 43 21 49
adenosine deaminase deficiency 62


External Ids:

OMIM47 263570
ICD10 via Orphanet26 E74.0

Related Diseases for Adult Polyglucosan Body Disease

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Adult Polyglucosan Body Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dementia10.6
2neuronitis10.4
3liver disease10.3
4tremor10.3

Symptoms for Adult Polyglucosan Body Disease

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

263570

Clinical features from OMIM:

263570

Symptoms:

49 (show all 20)
  • 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
  • sensitive trouble/deficit
  • chronic skin infection/ulcerations/ulcers/cancrum
  • 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
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria

Drugs & Therapeutics for Adult Polyglucosan Body Disease

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Adult Polyglucosan Body Disease

Search NIH Clinical Center for Adult Polyglucosan Body Disease

Genetic Tests for Adult Polyglucosan Body Disease

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Adult Polyglucosan Body Disease:

id Genetic test Affiliating Genes
1 Adult Polyglucosan Body Disease20 GBE1
2 Polyglucosan Body Disease, Adult22

Anatomical Context for Adult Polyglucosan Body Disease

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33MalaCards
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MalaCards organs/tissues related to Adult Polyglucosan Body Disease:

33
Liver, Lung, Kidney, Skin, Brain, Spinal cord

Animal Models for Adult Polyglucosan Body Disease or affiliated genes

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Sources:
37MGI
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MGI Mouse Phenotypes related to Adult Polyglucosan Body Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036319.1TARDBP, GBE1
2MP:00053699.0TARDBP, GBE1
3MP:00053848.8TARDBP, GBE1

Publications for Adult Polyglucosan Body Disease

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Sources:
52PubMed
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Articles related to Adult Polyglucosan Body Disease:

(show all 36)
idTitleAuthorsYear
1
Coexisting adult polyglucosan body disease with frontotemporal lobar degeneration with transactivation response DNA-binding protein-43 (TDP-43)-positive neuronal inclusions. (22506890)
2013
2
Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease. (24380807)
2013
3
Acute but transient neurological deterioration revealing adult polyglucosan body disease. (23146612)
2013
4
Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease. (23266647)
2013
5
Adult polyglucosan body disease masquerading as &quot;ALS with dementia of the Alzheimer type&quot;: an exceptional phenotype in a rare pathology. (21572310)
2012
6
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. (23034915)
2012
7
The adult polyglucosan body disease mutation GBE1 c.1076A&gt;C occurs at high frequency in persons of Ashkenazi Jewish background. (22943850)
2012
8
Adult polyglucosan body disease: a rare presentation with chronic liver disease and ground-glass hepatocellular inclusions. (21538287)
2011
9
Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways. (20655781)
2010
10
Immunohistochemical and ultrastructural changes in the brain in probable adult glycogenosis type IV: adult polyglucosan body disease. (18825592)
2008
11
Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene. (17994551)
2008
12
A case of adult polyglucosan body disease. (17722245)
2007
13
Stable neuropsychological deficits in adult polyglucosan body disease. (16730990)
2007
14
Adult polyglucosan body disease: a case report of a manifesting heterozygote. (16007674)
2005
15
Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome. (14755501)
2004
16
Adult polyglucosan body disease associated with lewy bodies and tremor. (12756142)
2003
17
Adult polyglucosan body disease: a postmortem correlation study. (12874416)
2003
18
Extensive white-matter changes in case of adult polyglucosan body disease. (11305757)
2001
19
Adult polyglucosan body disease. (11260627)
2001
20
Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. (10762170)
2000
21
Probable adult polyglucosan body disease. (11126844)
2000
22
Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. (9851430)
1998
23
Adult polyglucosan body disease associated with an extrapyramidal syndrome. (9810960)
1998
24
Familial dementia due to adult polyglucosan body disease. (9266150)
1997
25
Sevoflurane anaesthesia for a patient with adult polyglucosan body disease. (8955978)
1996
26
Dementia of frontal lobe type due to adult polyglucosan body disease. (8530979)
1995
27
Dementia of adult polyglucosan body disease. Evidence of cortical and subcortical dysfunction. (8274116)
1994
28
Adult polyglucosan body disease. (7922101)
1994
29
Adult Polyglucosan Body Disease (20301758)
1993
30
Glycogen branching enzyme deficiency in adult polyglucosan body disease. (8494336)
1993
31
Spinal cord MRI in adult polyglucosan body disease. (1522280)
1992
32
Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients. (1763891)
1991
33
Adult polyglucosan body disease: the diagnostic value of axilla skin biopsy. (1656844)
1991
34
Adult polyglucosan body disease: clinical and nerve biopsy findings in two cases. (6301360)
1983
35
A type of adult polyglucosan body disease. (6814164)
1982
36
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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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Adult Polyglucosan Body Disease:

64
id Symbol AA change Variation ID SNP ID
1GBE1p.Arg515HisVAR_022433
2GBE1p.Arg524GlnVAR_022434

Clinvar genetic disease variations for Adult Polyglucosan Body Disease:

1
id Gene Name Type Significance SNP ID Assembly Location
1GBE1NM_000158.3(GBE1): c.986A> C (p.Tyr329Ser)single nucleotide variantPathogenicrs80338671GRCh37Chr 3, 81691938: 81691938
2GBE1NM_000158.3(GBE1): c.1543C> T (p.Arg515Cys)single nucleotide variantPathogenicrs80338672GRCh37Chr 3, 81627151: 81627151
3GBE1NM_000158.3(GBE1): c.1571G> A (p.Arg524Gln)single nucleotide variantPathogenicrs80338673GRCh37Chr 3, 81627123: 81627123

Expression for genes affiliated with Adult Polyglucosan Body Disease

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Adult Polyglucosan Body Disease

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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Compounds 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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Products for genes affiliated with Adult Polyglucosan Body Disease

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Sources for Adult Polyglucosan Body Disease

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet