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 ⁵⁶ ⁷³ ³⁶ ¹³ ⁷¹

Deficiency of Ribose-5-Phosphate Isomerase ²⁹ ⁶

Ribose-5-Phosphate Isomerase Deficiency ³⁹

Ribose-5-P Isomerase Deficiency ⁵⁸

Rpiad ⁵⁶

Rpid ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

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:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

Inborn errors of metabolism

External Ids:

OMIM ⁵⁶ 608611

KEGG ³⁶ H01135

UMLS via Orphanet ⁷² C1291609

Orphanet ⁵⁸ ORPHA440706

MedGen ⁴¹ C1291609

UMLS ⁷¹ C1291609

Sources

Summaries for Ribose 5-Phosphate Isomerase Deficiency

UniProtKB/Swiss-Prot : ⁷³ 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, 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 brain, cortex and prefrontal cortex, and related phenotypes are global developmental delay and optic atrophy

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.

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

More information from OMIM: 608611

Sources

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
1	peripheral nervous system disease	10.3
2	neuropathy	10.3
3	myocarditis	10.3
4	abdominal obesity-metabolic syndrome 1	10.2
5	liver cirrhosis	10.2

Graphical network of the top 20 diseases related to Ribose 5-Phosphate Isomerase Deficiency:

Sources

Symptoms & Phenotypes for Ribose 5-Phosphate Isomerase Deficiency

Human phenotypes related to Ribose 5-Phosphate Isomerase Deficiency:

³¹ (show all 24)

#	Description	HPO Source Accession
1	global developmental delay ³¹	HP:0001263
2	optic atrophy ³¹	HP:0000648
3	spasticity ³¹	HP:0001257
4	ataxia ³¹	HP:0001251
5	nystagmus ³¹	HP:0000639
6	dysarthria ³¹	HP:0001260
7	leukoencephalopathy ³¹	HP:0002352
8	polyneuropathy ³¹	HP:0001271
9	sensorimotor neuropathy ³¹	HP:0007141
10	incoordination ³¹	HP:0002311
11	psychomotor retardation ³¹	HP:0025356
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:

⁵⁶

Neurologic Central Nervous System:
global developmental delay
seizures
spasticity
leukoencephalopathy
polyneuropathy
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

UMLS symptoms related to Ribose 5-Phosphate Isomerase Deficiency:

seizures, muscle spasticity, cerebellar ataxia

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:

⁴⁰

Brain, Cortex, Prefrontal Cortex

Sources

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 ⁵⁶ ⁶¹	Wamelink MM...Ralser M	20499043	2010
2	Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. ⁶¹ ⁶ ⁵⁶	Huck JH...van der Knaap MS	14988808	2004
3	Exome Sequencing in Children. ⁶ ⁵⁶	Mahler EA...Hempel M	31056085	2019
4	Leukoencephalopathy associated with a disturbance in the metabolism of polyols. ⁵⁶ ⁶	van der Knaap MS...Jakobs C	10589548	1999
5	Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA. ⁶¹	Kaur P...Shukla A	31247379	2019
6	Further Delineation of Ribose-5-phosphate Isomerase Deficiency: Report of a Third Case. ⁶¹	Brooks SS...Botti C	30088433	2018
7	Rare case of ribose 5 phosphate isomerase deficiency with slowly progressive leukoencephalopathy. ⁶¹	Naik N...Hingwala D	28801340	2017
8	Polyols accumulated in ribose-5-phosphate isomerase deficiency increase mitochondrial superoxide production and improve antioxidant defenses in rats' prefrontal cortex. ⁶¹	Stone V...Matte C	24970317	2014
9	A framework for application of metabolic modeling in yeast to predict the effects of nsSNV in human orthologs. ⁶¹	Dingerdissen H...Mazumder R	24894379	2014
10	The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: a review. ⁶¹	Wamelink MM...Jakobs C	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	Wamelink MM...Verhoeven NM	16435188	2005

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	1687.96	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	14988808 10589548 31056085 (more) 20499043
2	TALDO1	Transaldolase 1	Protein Coding	6.82	GeneCards inferred via : Publications (show sections)

Sources

Variations for Ribose 5-Phosphate Isomerase Deficiency

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

⁶ (show all 35) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	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.-17C>A	SNV	Uncertain significance	897553		2:88991200-88991200	2:88691682-88691682
5	RPIA	NM_144563.3(RPIA):c.493G>A (p.Val165Ile)	SNV	Uncertain significance	337430	rs886056422	2:89034099-89034099	2:88734582-88734582
6	RPIA	NM_144563.3(RPIA):c.596+5A>C	SNV	Uncertain significance	337432	rs200342264	2:89035259-89035259	2:88735742-88735742
7	RPIA	NM_144563.3(RPIA):c.*291del	deletion	Uncertain significance	337439	rs113052379	2:89049875-89049875	2:88750358-88750358
8	RPIA	NM_144563.3(RPIA):c.*712T>C	SNV	Uncertain significance	337442	rs886056425	2:89050307-89050307	2:88750790-88750790
9	RPIA	NM_144563.3(RPIA):c.*256C>T	SNV	Uncertain significance	337438	rs574766296	2:89049851-89049851	2:88750334-88750334
10	RPIA	NM_144563.3(RPIA):c.527+11T>C	SNV	Uncertain significance	337431	rs777127840	2:89034144-89034144	2:88734627-88734627
11	RPIA	NM_144563.3(RPIA):c.738+18del	deletion	Uncertain significance	337435	rs750253754	2:89036209-89036209	2:88736692-88736692
12	RPIA	NM_144563.3(RPIA):c.*15G>A	SNV	Uncertain significance	337437	rs375899017	2:89049610-89049610	2:88750093-88750093
13	RPIA	NM_144563.3(RPIA):c.*807C>G	SNV	Uncertain significance	337443	rs886056426	2:89050402-89050402	2:88750885-88750885
14	RPIA	NM_144563.3(RPIA):c.55C>A (p.Pro19Thr)	SNV	Uncertain significance	337428	rs756750653	2:88991271-88991271	2:88691753-88691753
15	RPIA	NM_144563.3(RPIA):c.218C>G (p.Ser73Cys)	SNV	Uncertain significance	337429	rs372920523	2:88991434-88991434	2:88691916-88691916
16	RPIA	NM_144563.3(RPIA):c.706G>A (p.Val236Met)	SNV	Uncertain significance	337434	rs752477415	2:89036161-89036161	2:88736644-88736644
17	RPIA	NM_144563.3(RPIA):c.*281A>G	SNV	Uncertain significance	895737		2:89049876-89049876	2:88750359-88750359
18	RPIA	NM_144563.3(RPIA):c.*558G>A	SNV	Uncertain significance	896016		2:89050153-89050153	2:88750636-88750636
19	RPIA	NM_144563.3(RPIA):c.*591G>T	SNV	Uncertain significance	896017		2:89050186-89050186	2:88750669-88750669
20	RPIA	NM_144563.3(RPIA):c.*635A>G	SNV	Uncertain significance	896018		2:89050230-89050230	2:88750713-88750713
21	RPIA	NM_144563.3(RPIA):c.*728T>C	SNV	Uncertain significance	896019		2:89050323-89050323	2:88750806-88750806
22	RPIA	NM_144563.3(RPIA):c.*783A>G	SNV	Uncertain significance	896020		2:89050378-89050378	2:88750861-88750861
23	RPIA	NM_144563.3(RPIA):c.57C>T (p.Pro19=)	SNV	Uncertain significance	897555		2:88991273-88991273	2:88691755-88691755
24	RPIA	NM_144563.3(RPIA):c.177C>T (p.Ser59=)	SNV	Uncertain significance	897556		2:88991393-88991393	2:88691875-88691875
25	RPIA	NM_144563.3(RPIA):c.443A>G (p.Asp148Gly)	SNV	Uncertain significance	898708		2:89028836-89028836	2:88729318-88729318
26	RPIA	NM_144563.3(RPIA):c.789C>T (p.Asp263=)	SNV	Uncertain significance	898709		2:89037544-89037544	2:88738027-88738027
27	RPIA	NM_144563.3(RPIA):c.790C>T (p.Arg264Trp)	SNV	Uncertain significance	898710		2:89037545-89037545	2:88738028-88738028
28	RPIA	NM_144563.3(RPIA):c.*29T>G	SNV	Uncertain significance	895734		2:89049624-89049624	2:88750107-88750107
29	RPIA	NM_144563.3(RPIA):c.*134A>C	SNV	Uncertain significance	895735		2:89049729-89049729	2:88750212-88750212
30	RPIA	NM_144563.3(RPIA):c.*241A>G	SNV	Likely benign	895736		2:89049836-89049836	2:88750319-88750319
31	RPIA	NM_144563.3(RPIA):c.599_601GTT[1]	short repeat	Likely benign	337441	rs371885783	2:89050193-89050195	2:88750676-88750678
32	RPIA	NM_144563.3(RPIA):c.*531T>G	SNV	Benign	337440	rs6974	2:89050126-89050126	2:88750609-88750609
33	RPIA	NM_144563.3(RPIA):c.5A>G (p.Gln2Arg)	SNV	Benign	897554		2:88991221-88991221	2:88691703-88691703
34	RPIA	NM_144563.3(RPIA):c.633G>A (p.Lys211=)	SNV	Benign	337433	rs72930711	2:89036088-89036088	2:88736571-88736571
35	RPIA	NM_144563.3(RPIA):c.858A>G (p.Leu286=)	SNV	Benign	337436	rs142341148	2:89049517-89049517	2:88750000-88750000

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

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:

³⁶

#	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 ⁶⁵ Show member pathways chondroitin sulfate biosynthesis ¹ chondroitin sulfate biosynthesis (late stages) ¹ Heparan sulfate/heparin (HS-GAG) metabolism ⁶⁵ HS-GAG biosynthesis ⁶⁵ Hyaluronan biosynthesis and export ⁶⁵ Hyaluronan metabolism ⁶⁵ Hyaluronan uptake and degradation ⁶⁵ Metabolism of carbohydrates ⁶⁵	11.91	TALDO1 RPIA
2	Carbon metabolism ³⁶ Show member pathways 2-Oxocarboxylic acid metabolism ³⁶ Biosynthesis of amino acids ³⁶ formaldehyde oxidation ¹	11.28	TALDO1 RPIA
3	Pentose phosphate pathway ³⁶ ¹ ¹ Show member pathways 5-Phosphoribose 1-diphosphate biosynthesis ⁶⁵ Insulin effects increased synthesis of Xylulose-5-Phosphate ⁶⁵ Pentose phosphate pathway (hexose monophosphate shunt) ⁶⁵ pentose phosphate pathway (non-oxidative branch) ¹ PRPP biosynthesis ¹	10.42	TALDO1 RPIA

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	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

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 EFO

¹⁸ ExPASy

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 HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Ribose 5-Phosphate Isomerase Deficiency (RPIAD)

Aliases & Classifications for Ribose 5-Phosphate Isomerase Deficiency

MalaCards integrated aliases for Ribose 5-Phosphate Isomerase Deficiency:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Ribose 5-Phosphate Isomerase Deficiency

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:

Graphical network of the top 20 diseases related to Ribose 5-Phosphate Isomerase Deficiency:

Symptoms & Phenotypes for Ribose 5-Phosphate Isomerase Deficiency

Human phenotypes related to Ribose 5-Phosphate Isomerase Deficiency:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Ribose 5-Phosphate Isomerase Deficiency:

Drugs & Therapeutics for Ribose 5-Phosphate Isomerase Deficiency

Genetic Tests for Ribose 5-Phosphate Isomerase Deficiency

Genetic tests related to Ribose 5-Phosphate Isomerase Deficiency:

Anatomical Context for Ribose 5-Phosphate Isomerase Deficiency

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

Publications for Ribose 5-Phosphate Isomerase Deficiency

Articles related to Ribose 5-Phosphate Isomerase Deficiency:

Genes for Ribose 5-Phosphate Isomerase Deficiency

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

Variations for Ribose 5-Phosphate Isomerase Deficiency

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

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

Expression for Ribose 5-Phosphate Isomerase Deficiency

Pathways for Ribose 5-Phosphate Isomerase Deficiency

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

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

GO Terms for Ribose 5-Phosphate Isomerase Deficiency

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

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

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

Sources for Ribose 5-Phosphate Isomerase Deficiency