MCID: PLY120
MIFTS: 22

Polyglucosan Body Disease, Adult Form

Categories: Genetic diseases, Neuronal diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Polyglucosan Body Disease, Adult Form

MalaCards integrated aliases for Polyglucosan Body Disease, Adult Form:

Name: Polyglucosan Body Disease, Adult Form 54 71 13 69
Adult Polyglucosan Body Disease 56 71
Apbd 56 71
Polyglucosan Body Neuropathy, Adult Form 71
Apbn 71

Characteristics:

Orphanet epidemiological data:

56
adult polyglucosan body disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: elderly;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset after age 40 years
loss of ambulation in mid-sixties
high frequency among individuals of ashkenazi jewish descent


HPO:

32
polyglucosan body disease, adult form:
Onset and clinical course adult onset slow progression
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 263570
Orphanet 56 ORPHA206583
UMLS via Orphanet 70 C1849722
ICD10 via Orphanet 34 E74.0
MedGen 40 C1849722
MeSH 42 D009422

Summaries for Polyglucosan Body Disease, Adult Form

OMIM : 54
Adult polyglucosan body neuropathy is 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 the disorder is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes (summary by Lossos et al., 1998). (263570)

MalaCards based summary : Polyglucosan Body Disease, Adult Form, also known as adult polyglucosan body disease, is related to adult polyglucosan body disease, and has symptoms including distal sensory impairment, neurogenic bladder and gait disturbance. An important gene associated with Polyglucosan Body Disease, Adult Form is GBE1 (1,4-Alpha-Glucan Branching Enzyme 1). Affiliated tissues include liver, skin and spinal cord.

UniProtKB/Swiss-Prot : 71 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

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

id Related Disease Score Top Affiliating Genes
1 adult polyglucosan body disease 11.4

Symptoms & Phenotypes for Polyglucosan Body Disease, Adult Form

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Peripheral Nervous System:
distal sensory impairment
paresthesias
peripheral axonal neuropathy

Genitourinary- Bladder:
neurogenic bladder
micturition difficulties

Cardiovascular- Vascular:
orthostatic hypotension (in some patients)

Neurologic- Central Nervous System:
cognitive impairment
spastic paraplegia
neurogenic bladder
upper motor neuron signs
gait disturbance
more
Head And Neck- Eyes:
saccadic movements (in some patients)

Laboratory- Abnormalities:
decreased or absent glycogen branching enzyme activity


Clinical features from OMIM:

263570

Human phenotypes related to Polyglucosan Body Disease, Adult Form:

56 32 (show all 24)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 distal sensory impairment 56 32 Frequent (79-30%) HP:0002936
2 neurogenic bladder 56 32 Very frequent (99-80%) HP:0000011
3 gait disturbance 56 32 Very frequent (99-80%) HP:0001288
4 ataxia 56 Occasional (29-5%)
5 spasticity 56 Very frequent (99-80%)
6 cognitive impairment 32 HP:0100543
7 peripheral neuropathy 56 Very frequent (99-80%)
8 muscle weakness 56 Very frequent (99-80%)
9 intellectual disability 56 Very frequent (99-80%)
10 urinary incontinence 56 Very frequent (99-80%)
11 tetraparesis 32 HP:0002273
12 hemiparesis 56 Very frequent (99-80%)
13 dementia 56 Occasional (29-5%)
14 paresthesia 32 HP:0003401
15 abnormal pyramidal signs 56 Very frequent (99-80%)
16 behavioral abnormality 56 Frequent (79-30%)
17 abnormality of metabolism/homeostasis 32 HP:0001939
18 emg abnormality 56 Occasional (29-5%)
19 limitation of joint mobility 56 Occasional (29-5%)
20 urinary bladder sphincter dysfunction 56 Very frequent (99-80%)
21 skin ulcer 56 Frequent (79-30%)
22 abnormality of extrapyramidal motor function 56 Occasional (29-5%)
23 abnormal upper motor neuron morphology 32 HP:0002127
24 abnormality of the cerebral white matter 32 HP:0002500

UMLS symptoms related to Polyglucosan Body Disease, Adult Form:


difficulty passing urine, upper motor neuron signs

Drugs & Therapeutics for Polyglucosan Body Disease, Adult Form

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease Completed NCT00947960 Phase 2 Triheptanoin

Search NIH Clinical Center for Polyglucosan Body Disease, Adult Form

Genetic Tests for Polyglucosan Body Disease, Adult Form

Anatomical Context for Polyglucosan Body Disease, Adult Form

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

39
Liver, Skin, Spinal Cord

Publications for Polyglucosan Body Disease, Adult Form

Variations for Polyglucosan Body Disease, Adult Form

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

71
id Symbol AA change Variation ID SNP ID
1 GBE1 p.Arg515His VAR_022433 rs201958741
2 GBE1 p.Arg524Gln VAR_022434 rs80338673

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GBE1 NM_000158.3(GBE1): c.784C> T (p.Arg262Cys) single nucleotide variant Pathogenic rs137852893 GRCh37 Chromosome 3, 81692140: 81692140
2 GBE1 NM_000158.3(GBE1): c.1544G> A (p.Arg515His) single nucleotide variant Pathogenic rs201958741 GRCh37 Chromosome 3, 81627150: 81627150
3 GBE1 NM_000158.3(GBE1): c.785G> A (p.Arg262His) single nucleotide variant Pathogenic rs369574719 GRCh37 Chromosome 3, 81692139: 81692139

Expression for Polyglucosan Body Disease, Adult Form

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

Pathways for Polyglucosan Body Disease, Adult Form

GO Terms for Polyglucosan Body Disease, Adult Form

Sources for Polyglucosan Body Disease, Adult Form

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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