RPIAD
MCID: RBS005
MIFTS: 35

Ribose 5-Phosphate Isomerase Deficiency (RPIAD)

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

Aliases & Classifications for Ribose 5-Phosphate Isomerase Deficiency

MalaCards integrated aliases for Ribose 5-Phosphate Isomerase Deficiency:

Name: Ribose 5-Phosphate Isomerase Deficiency 57 73 36 13 71
Deficiency of Ribose-5-Phosphate Isomerase 29 6
Rpiad 57 73
Ribose-5-Phosphate Isomerase Deficiency 39
Ribose-5-P Isomerase Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
ribose-5-p isomerase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on two reports of one patient each (last curated june 2019)


HPO:

31
ribose 5-phosphate isomerase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

OMIM® 57 608611
KEGG 36 H01135
MeSH 44 D002239
UMLS via Orphanet 72 C1291609
Orphanet 58 ORPHA440706
MedGen 41 C1291609
UMLS 71 C1291609

Summaries for Ribose 5-Phosphate Isomerase Deficiency

KEGG : 36 Ribose 5-phosphate isomerase (RPI) deficiency is a very rare enzymopathy of the pentose phosphate pathway with one sole diagnosed case. The patient presented with progressive leukoencephalopathy and peripheral neuropathy. Systematic metabolic profiling identified elevated levels of arabitol and ribitol in affected brain regions and body fluids. RPI gene-sequence analysis revealed a frameshift and a missense mutation.

MalaCards based summary : Ribose 5-Phosphate Isomerase Deficiency, also known as deficiency of ribose-5-phosphate isomerase, is related to peripheral nervous system disease and neuropathy, and has symptoms including seizures, muscle spasticity and cerebellar ataxia. An important gene associated with Ribose 5-Phosphate Isomerase Deficiency is RPIA (Ribose 5-Phosphate Isomerase A), and among its related pathways/superpathways are Pentose phosphate pathway and Glycosaminoglycan metabolism. Affiliated tissues include cortex and prefrontal cortex, and related phenotypes are spasticity and nystagmus

UniProtKB/Swiss-Prot : 73 Ribose 5-phosphate isomerase deficiency: An autosomal recessive inborn error of polyols metabolism characterized by highly elevated level of ribitol and arabitol in brain and body fluids. Clinical features include leukoencephalopathy, psychomotor retardation from early life, neurologic regression, and a mild sensorimotor neuropathy.

Wikipedia : 74 Ribose-5-phosphate isomerasedeficiency is a human disorder caused by mutations in the pentose phosphate... more...

More information from OMIM: 608611

Related Diseases for Ribose 5-Phosphate Isomerase Deficiency

Diseases related to Ribose 5-Phosphate Isomerase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 peripheral nervous system disease 10.3
2 neuropathy 10.3
3 abdominal obesity-metabolic syndrome 1 10.2
4 liver cirrhosis 10.2

Symptoms & Phenotypes for Ribose 5-Phosphate Isomerase Deficiency

Human phenotypes related to Ribose 5-Phosphate Isomerase Deficiency:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 nystagmus 31 HP:0000639
3 ataxia 31 HP:0001251
4 dysarthria 31 HP:0001260
5 global developmental delay 31 HP:0001263
6 optic atrophy 31 HP:0000648
7 leukoencephalopathy 31 HP:0002352
8 psychomotor retardation 31 HP:0025356
9 polyneuropathy 31 HP:0001271
10 sensorimotor neuropathy 31 HP:0007141
11 incoordination 31 HP:0002311
12 elevated circulating ribitol concentration 31 HP:0025550
13 increased level of ribose in urine 31 HP:0410072
14 seizure 31 HP:0001250
15 decreased level of erythritol in urine 31 HP:0410055
16 decreased level of erythritol in csf 31 HP:0410056
17 increased level of d-threitol in plasma 31 HP:0410057
18 increased level of d-threitol in csf 31 HP:0410058
19 increased level of d-threitol in urine 31 HP:0410059
20 increased level of ribitol in urine 31 HP:0410070
21 increased level of ribitol in csf 31 HP:0410071
22 increased level of ribose in csf 31 HP:0410073
23 increased level of xylitol in urine 31 HP:0410074
24 increased level of xylitol in csf 31 HP:0410075

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
spasticity
global developmental delay
leukoencephalopathy
psychomotor retardation
more
Laboratory Abnormalities:
elevated urinary and csf ribitol and d-arabitol
deficient ribose-s-phosphate isomerase (rpi) in fibroblasts

Head And Neck Eyes:
optic atrophy
tapetoretinal degeneration
nystagmus on lateral gaze

Clinical features from OMIM®:

608611 (Updated 05-Mar-2021)

UMLS symptoms related to Ribose 5-Phosphate Isomerase Deficiency:


seizures, muscle spasticity, cerebellar ataxia

Drugs & Therapeutics for Ribose 5-Phosphate Isomerase Deficiency

Search Clinical Trials , NIH Clinical Center for Ribose 5-Phosphate Isomerase Deficiency

Genetic Tests for Ribose 5-Phosphate Isomerase Deficiency

Genetic tests related to Ribose 5-Phosphate Isomerase Deficiency:

# Genetic test Affiliating Genes
1 Deficiency of Ribose-5-Phosphate Isomerase 29 RPIA

Anatomical Context for Ribose 5-Phosphate Isomerase Deficiency

MalaCards organs/tissues related to Ribose 5-Phosphate Isomerase Deficiency:

40
Cortex, Prefrontal Cortex

Publications for Ribose 5-Phosphate Isomerase Deficiency

Articles related to Ribose 5-Phosphate Isomerase Deficiency:

(show all 11)
# Title Authors PMID Year
1
The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency. 6 57 61
20499043 2010
2
Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. 61 6 57
14988808 2004
3
Exome Sequencing in Children. 6 57
31056085 2019
4
Leukoencephalopathy associated with a disturbance in the metabolism of polyols. 6 57
10589548 1999
5
Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA. 61
31247379 2019
6
Further Delineation of Ribose-5-phosphate Isomerase Deficiency: Report of a Third Case. 61
30088433 2018
7
Rare case of ribose 5 phosphate isomerase deficiency with slowly progressive leukoencephalopathy. 61
28801340 2017
8
Polyols accumulated in ribose-5-phosphate isomerase deficiency increase mitochondrial superoxide production and improve antioxidant defenses in rats' prefrontal cortex. 61
24970317 2014
9
A framework for application of metabolic modeling in yeast to predict the effects of nsSNV in human orthologs. 61
24894379 2014
10
The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: a review. 61
18987987 2008
11
Analysis of polyols in urine by liquid chromatography-tandem mass spectrometry: a useful tool for recognition of inborn errors affecting polyol metabolism. 61
16435188 2005

Variations for Ribose 5-Phosphate Isomerase Deficiency

ClinVar genetic disease variations for Ribose 5-Phosphate Isomerase Deficiency:

6 (show all 38)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RPIA NM_144563.3(RPIA):c.762del (p.Asn255fs) Deletion Pathogenic 13007 rs730880316 2:89037515-89037515 2:88737998-88737998
2 RPIA NM_144563.3(RPIA):c.404C>T (p.Ala135Val) SNV Pathogenic 13008 rs121918591 2:89028797-89028797 2:88729279-88729279
3 RPIA NM_144563.3(RPIA):c.627G>C (p.Trp209Cys) SNV Pathogenic 635118 rs1558699183 2:89036082-89036082 2:88736565-88736565
4 RPIA NM_144563.3(RPIA):c.347-1G>A SNV Pathogenic 928791 2:88999526-88999526 2:88700008-88700008
5 RPIA NM_144563.3(RPIA):c.253G>A (p.Ala85Thr) SNV Likely pathogenic 928792 2:88991469-88991469 2:88691951-88691951
6 RPIA NM_144563.3(RPIA):c.596+3A>G SNV Uncertain significance 976162 2:89035257-89035257 2:88735740-88735740
7 RPIA NM_144563.3(RPIA):c.738+18del Deletion Uncertain significance 337435 rs750253754 2:89036209-89036209 2:88736692-88736692
8 RPIA NM_144563.3(RPIA):c.57C>T (p.Pro19=) SNV Uncertain significance 897555 2:88991273-88991273 2:88691755-88691755
9 RPIA NM_144563.3(RPIA):c.177C>T (p.Ser59=) SNV Uncertain significance 897556 2:88991393-88991393 2:88691875-88691875
10 RPIA NM_144563.3(RPIA):c.443A>G (p.Asp148Gly) SNV Uncertain significance 898708 2:89028836-89028836 2:88729318-88729318
11 RPIA NM_144563.3(RPIA):c.789C>T (p.Asp263=) SNV Uncertain significance 898709 2:89037544-89037544 2:88738027-88738027
12 RPIA NM_144563.3(RPIA):c.790C>T (p.Arg264Trp) SNV Uncertain significance 898710 2:89037545-89037545 2:88738028-88738028
13 RPIA NM_144563.3(RPIA):c.*281A>G SNV Uncertain significance 895737 2:89049876-89049876 2:88750359-88750359
14 RPIA NM_144563.3(RPIA):c.*558G>A SNV Uncertain significance 896016 2:89050153-89050153 2:88750636-88750636
15 RPIA NM_144563.3(RPIA):c.*591G>T SNV Uncertain significance 896017 2:89050186-89050186 2:88750669-88750669
16 RPIA NM_144563.3(RPIA):c.*635A>G SNV Uncertain significance 896018 2:89050230-89050230 2:88750713-88750713
17 RPIA NM_144563.3(RPIA):c.*728T>C SNV Uncertain significance 896019 2:89050323-89050323 2:88750806-88750806
18 RPIA NM_144563.3(RPIA):c.*783A>G SNV Uncertain significance 896020 2:89050378-89050378 2:88750861-88750861
19 RPIA NM_144563.3(RPIA):c.-17C>A SNV Uncertain significance 897553 2:88991200-88991200 2:88691682-88691682
20 RPIA NM_144563.3(RPIA):c.493G>A (p.Val165Ile) SNV Uncertain significance 337430 rs886056422 2:89034099-89034099 2:88734582-88734582
21 RPIA NM_144563.3(RPIA):c.*712T>C SNV Uncertain significance 337442 rs886056425 2:89050307-89050307 2:88750790-88750790
22 RPIA NM_144563.3(RPIA):c.*291del Deletion Uncertain significance 337439 rs113052379 2:89049875-89049875 2:88750358-88750358
23 RPIA NM_144563.3(RPIA):c.55C>A (p.Pro19Thr) SNV Uncertain significance 337428 rs756750653 2:88991271-88991271 2:88691753-88691753
24 RPIA NM_144563.3(RPIA):c.*15G>A SNV Uncertain significance 337437 rs375899017 2:89049610-89049610 2:88750093-88750093
25 RPIA NM_144563.3(RPIA):c.706G>A (p.Val236Met) SNV Uncertain significance 337434 rs752477415 2:89036161-89036161 2:88736644-88736644
26 RPIA NM_144563.3(RPIA):c.527+11T>C SNV Uncertain significance 337431 rs777127840 2:89034144-89034144 2:88734627-88734627
27 RPIA NM_144563.3(RPIA):c.*807C>G SNV Uncertain significance 337443 rs886056426 2:89050402-89050402 2:88750885-88750885
28 RPIA NM_144563.3(RPIA):c.596+5A>C SNV Uncertain significance 337432 rs200342264 2:89035259-89035259 2:88735742-88735742
29 RPIA NM_144563.3(RPIA):c.218C>G (p.Ser73Cys) SNV Uncertain significance 337429 rs372920523 2:88991434-88991434 2:88691916-88691916
30 RPIA NM_144563.3(RPIA):c.*256C>T SNV Uncertain significance 337438 rs574766296 2:89049851-89049851 2:88750334-88750334
31 RPIA NM_144563.3(RPIA):c.*29T>G SNV Uncertain significance 895734 2:89049624-89049624 2:88750107-88750107
32 RPIA NM_144563.3(RPIA):c.*134A>C SNV Uncertain significance 895735 2:89049729-89049729 2:88750212-88750212
33 RPIA NM_144563.3(RPIA):c.*241A>G SNV Likely benign 895736 2:89049836-89049836 2:88750319-88750319
34 RPIA NM_144563.3(RPIA):c.*599_*601GTT[1] Microsatellite Likely benign 337441 rs371885783 2:89050193-89050195 2:88750676-88750678
35 RPIA NM_144563.3(RPIA):c.858A>G (p.Leu286=) SNV Benign 337436 rs142341148 2:89049517-89049517 2:88750000-88750000
36 RPIA NM_144563.3(RPIA):c.633G>A (p.Lys211=) SNV Benign 337433 rs72930711 2:89036088-89036088 2:88736571-88736571
37 RPIA NM_144563.3(RPIA):c.*531T>G SNV Benign 337440 rs6974 2:89050126-89050126 2:88750609-88750609
38 RPIA NM_144563.3(RPIA):c.5A>G (p.Gln2Arg) SNV Benign 897554 2:88991221-88991221 2:88691703-88691703

UniProtKB/Swiss-Prot genetic disease variations for Ribose 5-Phosphate Isomerase Deficiency:

73
# Symbol AA change Variation ID SNP ID
1 RPIA p.Ala135Val VAR_019122 rs121918591

Expression for Ribose 5-Phosphate Isomerase Deficiency

Search GEO for disease gene expression data for Ribose 5-Phosphate Isomerase Deficiency.

Pathways for Ribose 5-Phosphate Isomerase Deficiency

Pathways related to Ribose 5-Phosphate Isomerase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Pentose phosphate pathway hsa00030

GO Terms for Ribose 5-Phosphate Isomerase Deficiency

Cellular components related to Ribose 5-Phosphate Isomerase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 8.62 TALDO1 RPIA

Biological processes related to Ribose 5-Phosphate Isomerase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pentose-phosphate shunt GO:0006098 8.96 TALDO1 RPIA
2 pentose-phosphate shunt, non-oxidative branch GO:0009052 8.62 TALDO1 RPIA

Molecular functions related to Ribose 5-Phosphate Isomerase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate binding GO:0030246 8.96 TALDO1 RPIA
2 monosaccharide binding GO:0048029 8.62 TALDO1 RPIA

Sources for Ribose 5-Phosphate Isomerase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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