Ribose 5-Phosphate Isomerase Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare neurological diseases

Inborn errors of metabolism

External Ids:

OMIM ⁵⁷ 608611

Orphanet ⁵⁹ ORPHA440706

UMLS via Orphanet ⁷⁴ C1291609

MedGen ⁴² C1291609

KEGG ³⁷ H01135

SNOMED-CT via HPO ⁶⁹ 258211005 76976005 128613002 more

UMLS ⁷³ C1291609

Sources

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

Sources

Related Diseases for Ribose 5-Phosphate Isomerase Deficiency

Sources

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 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

Sources

Drugs & Therapeutics for Ribose 5-Phosphate Isomerase Deficiency

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

Sources

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

Sources

Anatomical Context for Ribose 5-Phosphate Isomerase Deficiency

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

⁴¹

Brain

Sources

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 )	Wamelink M.M....Ralser M.	2010

Sources

Genes for Ribose 5-Phosphate Isomerase Deficiency

Genes related to Ribose 5-Phosphate Isomerase Deficiency (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RPIA	Ribose 5-Phosphate Isomerase A	Protein Coding	1748.96	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	14988808 10589548 20499043
2	TALDO1	Transaldolase 1	Protein Coding	17.42	GeneCards inferred via : Publications (show sections)

Sources

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

Sources

Expression for Ribose 5-Phosphate Isomerase Deficiency

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

Sources

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

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

#	Super pathways	Score	Top Affiliating Genes
1	Glycosaminoglycan metabolism ⁶⁶ Show member pathways chondroitin sulfate biosynthesis ¹ chondroitin sulfate biosynthesis (late stages) ¹ Heparan sulfate/heparin (HS-GAG) metabolism ⁶⁶ HS-GAG biosynthesis ⁶⁶ Hyaluronan biosynthesis and export ⁶⁶ Hyaluronan metabolism ⁶⁶ Hyaluronan uptake and degradation ⁶⁶ Metabolism of carbohydrates ⁶⁶	11.91	RPIA TALDO1
2	Carbon metabolism ³⁷ Show member pathways 2-Oxocarboxylic acid metabolism ³⁷ Biosynthesis of amino acids ³⁷ formaldehyde oxidation ¹	11.28	RPIA TALDO1
3	Pentose phosphate pathway ³⁷ ¹ ¹ Show member pathways 5-Phosphoribose 1-diphosphate biosynthesis ⁶⁶ Insulin effects increased synthesis of Xylulose-5-Phosphate ⁶⁶ Pentose phosphate pathway (hexose monophosphate shunt) ⁶⁶ pentose phosphate pathway (non-oxidative branch) ¹ PRPP biosynthesis ¹	10.42	RPIA TALDO1

Sources

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

Sources for Ribose 5-Phosphate Isomerase Deficiency

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia