MCID: RBS005
MIFTS: 27

Ribose 5-Phosphate Isomerase Deficiency

Categories: Genetic diseases, Neuronal diseases, Metabolic 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 75 13 73
Deficiency of Ribose-5-Phosphate Isomerase 29 6
Ribose 5-Phosphate Isomerase Deficiency 37
Ribose-5-Phosphate Isomerase Deficiency 40
Ribose-5-P Isomerase Deficiency 59
Rpid 75

Characteristics:

Orphanet epidemiological data:

59
ribose-5-p isomerase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on one patient (last curated february 2015)


HPO:

32
ribose 5-phosphate isomerase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ribose 5-Phosphate Isomerase Deficiency

UniProtKB/Swiss-Prot : 75 Ribose 5-phosphate isomerase deficiency: A patient has been described with a deficiency of ribose 5-phosphate isomerase who presented with leukoencephalopathy and peripheral neuropathy. Proton magnetic resonance spectroscopy of the brain revealed a highly elevated level of the polyols ribitol and D- arabitol, which were subsequently also found in high concentrations in body fluids. Deficient activity of RPIA, one of the pentose phosphate pathway enzymes, has been demonstrated in fibroblasts.

MalaCards based summary : Ribose 5-Phosphate Isomerase Deficiency, is also known as deficiency of ribose-5-phosphate isomerase, and has symptoms including cerebellar ataxia, muscle spasticity and seizures. 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 brain, and related phenotypes are optic atrophy and seizures

Wikipedia : 76 Ribose-5-phosphate isomerase (Rpi) encoded by the RPIA gene is an enzyme that catalyzes the conversion... more...

Description from OMIM: 608611

Related Diseases for Ribose 5-Phosphate Isomerase Deficiency

Symptoms & Phenotypes for Ribose 5-Phosphate Isomerase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
spasticity
polyneuropathy
leukoencephalopathy
cerebellar ataxia
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
nystagmus on lateral gaze


Clinical features from OMIM:

608611

Human phenotypes related to Ribose 5-Phosphate Isomerase Deficiency:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 optic atrophy 32 HP:0000648
2 seizures 32 HP:0001250
3 ataxia 32 HP:0001251
4 spasticity 32 HP:0001257
5 global developmental delay 32 HP:0001263
6 polyneuropathy 32 HP:0001271
7 leukoencephalopathy 32 HP:0002352
8 sensorimotor neuropathy 32 HP:0007141
9 elevated circulating ribitol concentration 32 HP:0025550
10 decreased level of erythritol in urine 32 HP:0410055
11 decreased level of erythritol in csf 32 HP:0410056
12 increased level of d-threitol in plasma 32 HP:0410057
13 increased level of d-threitol in csf 32 HP:0410058
14 increased level of d-threitol in urine 32 HP:0410059
15 increased level of ribitol in urine 32 HP:0410070
16 increased level of ribitol in csf 32 HP:0410071
17 increased level of ribose in urine 32 HP:0410072
18 increased level of ribose in csf 32 HP:0410073
19 increased level of xylitol in urine 32 HP:0410074
20 increased level of xylitol in csf 32 HP:0410075

UMLS symptoms related to Ribose 5-Phosphate Isomerase Deficiency:


cerebellar ataxia, muscle spasticity, seizures

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:

41
Brain

Publications for Ribose 5-Phosphate Isomerase Deficiency

Articles related to Ribose 5-Phosphate Isomerase Deficiency:

# Title Authors Year
1
The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency. ( 20499043 )
2010

Variations for Ribose 5-Phosphate Isomerase Deficiency

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

75
# Symbol AA change Variation ID SNP ID
1 RPIA p.Ala135Val VAR_019122 rs121918591

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

6
(show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 RPIA NM_144563.2(RPIA): c.762delG (p.Asn255Ilefs) deletion Pathogenic rs730880316 GRCh37 Chromosome 2, 89037517: 89037517
2 RPIA NM_144563.2(RPIA): c.762delG (p.Asn255Ilefs) deletion Pathogenic rs730880316 GRCh38 Chromosome 2, 88738000: 88738000
3 RPIA NM_144563.2(RPIA): c.404C> T (p.Ala135Val) single nucleotide variant Pathogenic rs121918591 GRCh37 Chromosome 2, 89028797: 89028797
4 RPIA NM_144563.2(RPIA): c.404C> T (p.Ala135Val) single nucleotide variant Pathogenic rs121918591 GRCh38 Chromosome 2, 88729279: 88729279
5 RPIA NM_144563.2(RPIA): c.55C> A (p.Pro19Thr) single nucleotide variant Uncertain significance rs756750653 GRCh38 Chromosome 2, 88691753: 88691753
6 RPIA NM_144563.2(RPIA): c.55C> A (p.Pro19Thr) single nucleotide variant Uncertain significance rs756750653 GRCh37 Chromosome 2, 88991271: 88991271
7 RPIA NM_144563.2(RPIA): c.218C> G (p.Ser73Cys) single nucleotide variant Uncertain significance rs372920523 GRCh38 Chromosome 2, 88691916: 88691916
8 RPIA NM_144563.2(RPIA): c.218C> G (p.Ser73Cys) single nucleotide variant Uncertain significance rs372920523 GRCh37 Chromosome 2, 88991434: 88991434
9 RPIA NM_144563.2(RPIA): c.706G> A (p.Val236Met) single nucleotide variant Uncertain significance rs752477415 GRCh38 Chromosome 2, 88736644: 88736644
10 RPIA NM_144563.2(RPIA): c.706G> A (p.Val236Met) single nucleotide variant Uncertain significance rs752477415 GRCh37 Chromosome 2, 89036161: 89036161
11 RPIA NM_144563.2(RPIA): c.858A> G (p.Leu286=) single nucleotide variant Likely benign rs142341148 GRCh38 Chromosome 2, 88750000: 88750000
12 RPIA NM_144563.2(RPIA): c.858A> G (p.Leu286=) single nucleotide variant Likely benign rs142341148 GRCh37 Chromosome 2, 89049517: 89049517
13 RPIA NM_144563.2(RPIA): c.493G> A (p.Val165Ile) single nucleotide variant Uncertain significance rs886056422 GRCh38 Chromosome 2, 88734582: 88734582
14 RPIA NM_144563.2(RPIA): c.493G> A (p.Val165Ile) single nucleotide variant Uncertain significance rs886056422 GRCh37 Chromosome 2, 89034099: 89034099
15 RPIA NM_144563.2(RPIA): c.596+5A> C single nucleotide variant Uncertain significance rs200342264 GRCh38 Chromosome 2, 88735742: 88735742
16 RPIA NM_144563.2(RPIA): c.596+5A> C single nucleotide variant Uncertain significance rs200342264 GRCh37 Chromosome 2, 89035259: 89035259
17 RPIA NM_144563.2(RPIA): c.*291delA deletion Uncertain significance rs886056424 GRCh38 Chromosome 2, 88750369: 88750369
18 RPIA NM_144563.2(RPIA): c.*291delA deletion Uncertain significance rs886056424 GRCh37 Chromosome 2, 89049886: 89049886
19 RPIA NM_144563.2(RPIA): c.*531T> G single nucleotide variant Benign rs6974 GRCh38 Chromosome 2, 88750609: 88750609
20 RPIA NM_144563.2(RPIA): c.*531T> G single nucleotide variant Benign rs6974 GRCh37 Chromosome 2, 89050126: 89050126
21 RPIA NM_144563.2(RPIA): c.*712T> C single nucleotide variant Uncertain significance rs886056425 GRCh37 Chromosome 2, 89050307: 89050307
22 RPIA NM_144563.2(RPIA): c.*712T> C single nucleotide variant Uncertain significance rs886056425 GRCh38 Chromosome 2, 88750790: 88750790
23 RPIA NM_144563.2(RPIA): c.*256C> T single nucleotide variant Uncertain significance rs574766296 GRCh37 Chromosome 2, 89049851: 89049851
24 RPIA NM_144563.2(RPIA): c.*256C> T single nucleotide variant Uncertain significance rs574766296 GRCh38 Chromosome 2, 88750334: 88750334
25 RPIA NM_144563.2(RPIA): c.*602_*604delGTT deletion Likely benign rs371885783 GRCh38 Chromosome 2, 88750680: 88750682
26 RPIA NM_144563.2(RPIA): c.*602_*604delGTT deletion Likely benign rs371885783 GRCh37 Chromosome 2, 89050197: 89050199
27 RPIA NM_144563.2(RPIA): c.527+11T> C single nucleotide variant Uncertain significance rs777127840 GRCh38 Chromosome 2, 88734627: 88734627
28 RPIA NM_144563.2(RPIA): c.527+11T> C single nucleotide variant Uncertain significance rs777127840 GRCh37 Chromosome 2, 89034144: 89034144
29 RPIA NM_144563.2(RPIA): c.633G> A (p.Lys211=) single nucleotide variant Likely benign rs72930711 GRCh38 Chromosome 2, 88736571: 88736571
30 RPIA NM_144563.2(RPIA): c.633G> A (p.Lys211=) single nucleotide variant Likely benign rs72930711 GRCh37 Chromosome 2, 89036088: 89036088
31 RPIA NM_144563.2(RPIA): c.738+18delG deletion Uncertain significance rs886056423 GRCh38 Chromosome 2, 88736694: 88736694
32 RPIA NM_144563.2(RPIA): c.738+18delG deletion Uncertain significance rs886056423 GRCh37 Chromosome 2, 89036211: 89036211
33 RPIA NM_144563.2(RPIA): c.*15G> A single nucleotide variant Uncertain significance rs375899017 GRCh38 Chromosome 2, 88750093: 88750093
34 RPIA NM_144563.2(RPIA): c.*15G> A single nucleotide variant Uncertain significance rs375899017 GRCh37 Chromosome 2, 89049610: 89049610
35 RPIA NM_144563.2(RPIA): c.*807C> G single nucleotide variant Uncertain significance rs886056426 GRCh38 Chromosome 2, 88750885: 88750885
36 RPIA NM_144563.2(RPIA): c.*807C> G single nucleotide variant Uncertain significance rs886056426 GRCh37 Chromosome 2, 89050402: 89050402

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:

37
# 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 RPIA TALDO1

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 RPIA TALDO1
2 pentose-phosphate shunt, non-oxidative branch GO:0009052 8.62 RPIA TALDO1

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 RPIA TALDO1
2 monosaccharide binding GO:0048029 8.62 RPIA TALDO1

Sources for Ribose 5-Phosphate Isomerase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....