MCID: PLY120
MIFTS: 27

Polyglucosan Body Disease, Adult Form malady

Genetic diseases, Rare diseases, Neuronal diseases, Liver diseases, Metabolic diseases categories

Aliases & Classifications for Polyglucosan Body Disease, Adult Form

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Polyglucosan Body Disease, Adult Form, Aliases & Descriptions:

Name: Polyglucosan Body Disease, Adult Form 45 10 41 21 60
Adult Polyglucosan Body Disease 19 41 21 47
Polyglucosan Body Disease, Adult 41 20 22
 
Apbd 41 21 47
Polyglucosan Body Neuropathy, Adult Form 45


Classifications:



Characteristics (Orphanet epidemiological data):

47
adult polyglucosan body disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: elderly


External Ids:

OMIM45 263570
Orphanet47 206583
ICD10 via Orphanet26 E74.0

Summaries for Polyglucosan Body Disease, Adult Form

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NIH Rare Diseases:41 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: Polyglucosan Body Disease, Adult Form, also known as adult polyglucosan body disease, is related to dementia and neuronitis, and has symptoms including hypertonia, gait disturbance and muscle weakness. An important gene associated with Polyglucosan Body Disease, Adult Form is GBE1 (glucan (1,4-alpha-), branching enzyme 1). Affiliated tissues include liver, kidney and lung.

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).

OMIM:45 Adult polyglucosan body neuropathy is a late-onset, slowly progressive disorder affecting the central and peripheral... (263570) more...

GeneReviews summary for apbd

Related Diseases for Polyglucosan Body Disease, Adult Form

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

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

Symptoms for Polyglucosan Body Disease, Adult Form

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Symptoms by clinical synopsis from OMIM:

263570

Clinical features from OMIM:

263570

Symptoms:

 47 (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 Polyglucosan Body Disease, Adult Form:

(show all 27)
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 gait disturbance HP:0001288
19 abnormality of metabolism/homeostasis HP:0001939
20 upper motor neuron abnormality HP:0002127
21 tetraparesis HP:0002273
22 abnormality of the cerebral white matter HP:0002500
23 distal sensory impairment HP:0002936
24 paresthesia HP:0003401
25 adult onset HP:0003581
26 slow progression HP:0003677
27 cognitive impairment HP:0100543

Drugs & Therapeutics for Polyglucosan Body Disease, Adult Form

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Drug clinical trials:

Search ClinicalTrials for Polyglucosan Body Disease, Adult Form

Search NIH Clinical Center for Polyglucosan Body Disease, Adult Form

Genetic Tests for Polyglucosan Body Disease, Adult Form

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Genetic tests related to Polyglucosan Body Disease, Adult Form:

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

Anatomical Context for Polyglucosan Body Disease, Adult Form

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MalaCards organs/tissues related to Polyglucosan Body Disease, Adult Form:

31
Liver, Kidney, Lung, Skin

Animal Models for Polyglucosan Body Disease, Adult Form or affiliated genes

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Publications for Polyglucosan Body Disease, Adult Form

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Variations for Polyglucosan Body Disease, Adult Form

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UniProtKB/Swiss-Prot genetic disease variations for Polyglucosan Body Disease, Adult Form:

62
id Symbol AA change Variation ID SNP ID
1GBE1p.Arg515HisVAR_022433
2GBE1p.Arg524GlnVAR_022434

Clinvar genetic disease variations for Polyglucosan Body Disease, Adult Form:

6
id Gene Variation 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 Polyglucosan Body Disease, Adult Form

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

Pathways for genes affiliated with Polyglucosan Body Disease, Adult Form

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Compounds for genes affiliated with Polyglucosan Body Disease, Adult Form

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GO Terms for genes affiliated with Polyglucosan Body Disease, Adult Form

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Products for genes affiliated with Polyglucosan Body Disease, Adult Form

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Sources for Polyglucosan Body Disease, Adult Form

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet