MCID: PLY120
MIFTS: 24

Polyglucosan Body Disease, Adult Form malady

Genetic diseases (common), Neuronal diseases categories

Aliases & Classifications for Polyglucosan Body Disease, Adult Form

About this section

Aliases & Descriptions for Polyglucosan Body Disease, Adult Form:

Name: Polyglucosan Body Disease, Adult Form 49 11 65 67
Polyglucosan Body Neuropathy, Adult Form 67
Adult Polyglucosan Body Disease 67
 
Apbd 67
Apbn 67


Classifications:



External Ids:

OMIM49 263570
MedGen34 C1849722
MeSH36 D009422

Summaries for Polyglucosan Body Disease, Adult Form

About this section
OMIM:49 Adult polyglucosan body neuropathy is a late-onset, slowly progressive disorder affecting the central and peripheral... (263570) more...

MalaCards based summary: Polyglucosan Body Disease, Adult Form, also known as polyglucosan body neuropathy, adult form, is related to dementia and adult polyglucosan body disease, 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 skin.

UniProtKB/Swiss-Prot:67 Polyglucosan body neuropathy, adult form: A late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of APBN is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes.

Related Diseases for Polyglucosan Body Disease, Adult Form

About this section

Graphical network of the top 20 diseases related to Polyglucosan Body Disease, Adult Form:



Diseases related to polyglucosan body disease, adult form

Symptoms for Polyglucosan Body Disease, Adult Form

About this section

Symptoms by clinical synopsis from OMIM:

263570

Clinical features from OMIM:

263570

HPO human phenotypes related to Polyglucosan Body Disease, Adult Form:

(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 abnormal pyramidal signs hallmark (90%) HP:0007256
6 peripheral neuropathy hallmark (90%) HP:0009830
7 abnormal renal physiology hallmark (90%) HP:0012211
8 cognitive impairment hallmark (90%) HP:0100543
9 erectile abnormalities hallmark (90%) HP:0100639
10 behavioral abnormality typical (50%) HP:0000708
11 skin ulcer typical (50%) HP:0200042
12 limitation of joint mobility occasional (7.5%) HP:0001376
13 abnormality of extrapyramidal motor function occasional (7.5%) HP:0002071
14 incoordination occasional (7.5%) HP:0002311
15 developmental regression occasional (7.5%) HP:0002376
16 emg abnormality occasional (7.5%) HP:0003457
17 autosomal recessive inheritance HP:0000007
18 neurogenic bladder HP:0000011
19 gait disturbance HP:0001288
20 abnormality of metabolism/homeostasis HP:0001939
21 abnormal upper motor neuron morphology 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 Polyglucosan Body Disease, Adult Form

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body DiseaseCompletedNCT00947960Phase 2

Search NIH Clinical Center for Polyglucosan Body Disease, Adult Form

Genetic Tests for Polyglucosan Body Disease, Adult Form

About this section

Anatomical Context for Polyglucosan Body Disease, Adult Form

About this section

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

33
Skin

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

About this section

Publications for Polyglucosan Body Disease, Adult Form

About this section

Variations for Polyglucosan Body Disease, Adult Form

About this section

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

67
id Symbol AA change Variation ID SNP ID
1GBE1p.Arg515HisVAR_022433
2GBE1p.Arg524GlnVAR_022434

Expression for genes affiliated with Polyglucosan Body Disease, Adult Form

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

Pathways for genes affiliated with Polyglucosan Body Disease, Adult Form

About this section

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

About this section

Sources for Polyglucosan Body Disease, Adult Form

About this section
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