APBD
MCID: ADL060
MIFTS: 39

Adult Polyglucosan Body Disease (APBD) malady

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

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NIH Rare Diseases:42 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 based summary: Adult Polyglucosan Body Disease, also known as polyglucosan body disease, adult form, is related to dementia and neuronitis, 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, kidney and lung, 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:46 263570

GeneReviews summary for apbd

Aliases & Classifications for Adult Polyglucosan Body Disease

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Adult Polyglucosan Body Disease, Aliases & Descriptions:

Name: Adult Polyglucosan Body Disease 19 21 48 62
Polyglucosan Body Disease, Adult Form 42 21 46 62
 
Polyglucosan Body Disease, Adult 42 20 22
Apbd 42 21 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
adult polyglucosan body disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Adulthood; Age of death: Elderly


External Ids:

OMIM46 263570
ICD10 via Orphanet26 E74.0

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/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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Symptoms by clinical synopsis from OMIM:

263570

Clinical features from OMIM:

263570

Symptoms:

48 (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

HPO human phenotypes related to Adult Polyglucosan Body Disease:

(show all 28)
id Description Frequency HPO Source Accession
1 hypertonia hallmark (90%) HP:0001276
2 gait disturbance hallmark (90%) HP:0001288
3 muscle weakness hallmark (90%) HP:0001324
4 hemiplegia/hemiparesis hallmark (90%) HP:0004374
5 peripheral neuropathy hallmark (90%) HP:0009830
6 abnormal renal physiology hallmark (90%) HP:0012211
7 cognitive impairment hallmark (90%) HP:0100543
8 erectile abnormalities hallmark (90%) HP:0100639
9 behavioral abnormality typical (50%) HP:0000708
10 skin ulcer typical (50%) HP:0200042
11 limitation of joint mobility occasional (7.5%) HP:0001376
12 abnormality of extrapyramidal motor function occasional (7.5%) HP:0002071
13 incoordination occasional (7.5%) HP:0002311
14 developmental regression occasional (7.5%) HP:0002376
15 emg abnormality occasional (7.5%) HP:0003457
16 autosomal recessive inheritance HP:0000007
17 neurogenic bladder HP:0000011
18 neurogenic bladder HP:0000011
19 gait disturbance HP:0001288
20 abnormality of metabolism/homeostasis HP:0001939
21 upper motor neuron abnormality HP:0002127
22 tetraparesis HP:0002273
23 abnormality of the cerebral white matter HP:0002500
24 distal sensory impairment HP:0002936
25 paresthesia HP:0003401
26 adult onset HP:0003581
27 slow progression HP:0003677
28 cognitive impairment HP:0100543

Drugs & Therapeutics for Adult Polyglucosan Body Disease

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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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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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MalaCards organs/tissues related to Adult Polyglucosan Body Disease:

32
Liver, Kidney, Lung, Skin, Brain, Spinal cord

Animal Models for Adult Polyglucosan Body Disease or affiliated genes

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MGI Mouse Phenotypes related to Adult Polyglucosan Body Disease:

36
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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Articles related to Adult Polyglucosan Body Disease:

(show all 37)
idTitleAuthorsYear
1
Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration. (24750115)
2014
2
Coexisting adult polyglucosan body disease with frontotemporal lobar degeneration with transactivation response DNA-binding protein-43 (TDP-43)-positive neuronal inclusions. (22506890)
2013
3
Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease. (24380807)
2013
4
Acute but transient neurological deterioration revealing adult polyglucosan body disease. (23146612)
2013
5
Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease. (23266647)
2013
6
Adult polyglucosan body disease masquerading as &quot;ALS with dementia of the Alzheimer type&quot;: an exceptional phenotype in a rare pathology. (21572310)
2012
7
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. (23034915)
2012
8
The adult polyglucosan body disease mutation GBE1 c.1076A&gt;C occurs at high frequency in persons of Ashkenazi Jewish background. (22943850)
2012
9
Adult polyglucosan body disease: a rare presentation with chronic liver disease and ground-glass hepatocellular inclusions. (21538287)
2011
10
Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways. (20655781)
2010
11
Immunohistochemical and ultrastructural changes in the brain in probable adult glycogenosis type IV: adult polyglucosan body disease. (18825592)
2008
12
Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene. (17994551)
2008
13
A case of adult polyglucosan body disease. (17722245)
2007
14
Stable neuropsychological deficits in adult polyglucosan body disease. (16730990)
2007
15
Adult polyglucosan body disease: a case report of a manifesting heterozygote. (16007674)
2005
16
Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome. (14755501)
2004
17
Adult polyglucosan body disease associated with lewy bodies and tremor. (12756142)
2003
18
Adult polyglucosan body disease: a postmortem correlation study. (12874416)
2003
19
Extensive white-matter changes in case of adult polyglucosan body disease. (11305757)
2001
20
Adult polyglucosan body disease. (11260627)
2001
21
Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. (10762170)
2000
22
Probable adult polyglucosan body disease. (11126844)
2000
23
Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. (9851430)
1998
24
Adult polyglucosan body disease associated with an extrapyramidal syndrome. (9810960)
1998
25
Familial dementia due to adult polyglucosan body disease. (9266150)
1997
26
Sevoflurane anaesthesia for a patient with adult polyglucosan body disease. (8955978)
1996
27
Dementia of frontal lobe type due to adult polyglucosan body disease. (8530979)
1995
28
Dementia of adult polyglucosan body disease. Evidence of cortical and subcortical dysfunction. (8274116)
1994
29
Adult polyglucosan body disease. (7922101)
1994
30
Adult Polyglucosan Body Disease (20301758)
1993
31
Glycogen branching enzyme deficiency in adult polyglucosan body disease. (8494336)
1993
32
Spinal cord MRI in adult polyglucosan body disease. (1522280)
1992
33
Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients. (1763891)
1991
34
Adult polyglucosan body disease: the diagnostic value of axilla skin biopsy. (1656844)
1991
35
Adult polyglucosan body disease: clinical and nerve biopsy findings in two cases. (6301360)
1983
36
A type of adult polyglucosan body disease. (6814164)
1982
37
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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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:

6
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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Expression patterns in normal tissues for genes affiliated with Adult Polyglucosan Body Disease

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet