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

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Aliases & Classifications for Ribose 5-Phosphate Isomerase Deficiency

MalaCards integrated aliases for Ribose 5-Phosphate Isomerase Deficiency:

Name: Ribose 5-Phosphate Isomerase Deficiency ⁵⁷ ⁷² ³⁶ ¹³ ⁷⁰

Deficiency of Ribose-5-Phosphate Isomerase ²⁹ ⁶

Rpiad ⁵⁷ ⁷²

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-Apr-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:

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® ⁵⁷ 608611

KEGG ³⁶ H01135

MeSH ⁴⁴ D002239

UMLS via Orphanet ⁷¹ C1291609

Orphanet ⁵⁸ ORPHA440706

MedGen ⁴¹ C1291609

UMLS ⁷⁰ C1291609

Sources

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 : ⁷² 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 : ⁷³ Ribose-5-phosphate isomerase deficiency is a human disorder caused by mutations in ribose-5-phosphate... more...

More information from OMIM: 608611

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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	abdominal obesity-metabolic syndrome 1	10.2
4	liver cirrhosis	10.2

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	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-Apr-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-Apr-2021)

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

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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

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Anatomical Context for Ribose 5-Phosphate Isomerase Deficiency

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

⁴⁰

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. ⁶¹ ⁵⁷ ⁶	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. ⁶ ⁵⁷ ⁶¹	Huck JH...van der Knaap MS	14988808	2004
3	Exome Sequencing in Children. ⁶ ⁵⁷	Mahler EA...Hempel M	31056085	2019
4	Leukoencephalopathy associated with a disturbance in the metabolism of polyols. ⁵⁷ ⁶	van der Knaap MS...Jakobs C	10589548	1999
5	Further Delineation of Ribose-5-phosphate Isomerase Deficiency: Report of a Third Case. ⁶¹ ⁶	Brooks SS...Botti C	30088433	2018
6	Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA. ⁶¹	Kaur P...Shukla A	31247379	2019
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	PubMed IDs
1	RPIA	Ribose 5-Phosphate Isomerase A	Protein Coding	1713.34	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	10589548 14988808 20499043 (more) 30088433
2	TALDO1	Transaldolase 1	Protein Coding	7.31	GeneCards inferred via : Publications (show sections)

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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	Position
1	RPIA	NM_144563.3(RPIA):c.762del (p.Asn255fs)	Deletion	Pathogenic	13007	rs730880316	GRCh37: 2:89037515-89037515 GRCh38: 2:88737998-88737998
2	RPIA	NM_144563.3(RPIA):c.404C>T (p.Ala135Val)	SNV	Pathogenic	13008	rs121918591	GRCh37: 2:89028797-89028797 GRCh38: 2:88729279-88729279
3	RPIA	NM_144563.3(RPIA):c.627G>C (p.Trp209Cys)	SNV	Pathogenic	635118	rs1558699183	GRCh37: 2:89036082-89036082 GRCh38: 2:88736565-88736565
4	RPIA	NM_144563.3(RPIA):c.347-1G>A	SNV	Pathogenic	928791		GRCh37: 2:88999526-88999526 GRCh38: 2:88700008-88700008
5	RPIA	NM_144563.3(RPIA):c.253G>A (p.Ala85Thr)	SNV	Likely pathogenic	928792		GRCh37: 2:88991469-88991469 GRCh38: 2:88691951-88691951
6	RPIA	NM_144563.3(RPIA):c.738+18del	Deletion	Uncertain significance	337435	rs750253754	GRCh37: 2:89036209-89036209 GRCh38: 2:88736692-88736692
7	RPIA	NM_144563.3(RPIA):c.57C>T (p.Pro19=)	SNV	Uncertain significance	897555		GRCh37: 2:88991273-88991273 GRCh38: 2:88691755-88691755
8	RPIA	NM_144563.3(RPIA):c.177C>T (p.Ser59=)	SNV	Uncertain significance	897556		GRCh37: 2:88991393-88991393 GRCh38: 2:88691875-88691875
9	RPIA	NM_144563.3(RPIA):c.443A>G (p.Asp148Gly)	SNV	Uncertain significance	898708		GRCh37: 2:89028836-89028836 GRCh38: 2:88729318-88729318
10	RPIA	NM_144563.3(RPIA):c.789C>T (p.Asp263=)	SNV	Uncertain significance	898709		GRCh37: 2:89037544-89037544 GRCh38: 2:88738027-88738027
11	RPIA	NM_144563.3(RPIA):c.790C>T (p.Arg264Trp)	SNV	Uncertain significance	898710		GRCh37: 2:89037545-89037545 GRCh38: 2:88738028-88738028
12	RPIA	NM_144563.3(RPIA):c.596+3A>G	SNV	Uncertain significance	976162		GRCh37: 2:89035257-89035257 GRCh38: 2:88735740-88735740
13	RPIA	NM_144563.3(RPIA):c.*281A>G	SNV	Uncertain significance	895737		GRCh37: 2:89049876-89049876 GRCh38: 2:88750359-88750359
14	RPIA	NM_144563.3(RPIA):c.*558G>A	SNV	Uncertain significance	896016		GRCh37: 2:89050153-89050153 GRCh38: 2:88750636-88750636
15	RPIA	NM_144563.3(RPIA):c.*591G>T	SNV	Uncertain significance	896017		GRCh37: 2:89050186-89050186 GRCh38: 2:88750669-88750669
16	RPIA	NM_144563.3(RPIA):c.*635A>G	SNV	Uncertain significance	896018		GRCh37: 2:89050230-89050230 GRCh38: 2:88750713-88750713
17	RPIA	NM_144563.3(RPIA):c.*728T>C	SNV	Uncertain significance	896019		GRCh37: 2:89050323-89050323 GRCh38: 2:88750806-88750806
18	RPIA	NM_144563.3(RPIA):c.*783A>G	SNV	Uncertain significance	896020		GRCh37: 2:89050378-89050378 GRCh38: 2:88750861-88750861
19	RPIA	NM_144563.3(RPIA):c.-17C>A	SNV	Uncertain significance	897553		GRCh37: 2:88991200-88991200 GRCh38: 2:88691682-88691682
20	RPIA	NM_144563.3(RPIA):c.493G>A (p.Val165Ile)	SNV	Uncertain significance	337430	rs886056422	GRCh37: 2:89034099-89034099 GRCh38: 2:88734582-88734582
21	RPIA	NM_144563.3(RPIA):c.*712T>C	SNV	Uncertain significance	337442	rs886056425	GRCh37: 2:89050307-89050307 GRCh38: 2:88750790-88750790
22	RPIA	NM_144563.3(RPIA):c.*291del	Deletion	Uncertain significance	337439	rs113052379	GRCh37: 2:89049875-89049875 GRCh38: 2:88750358-88750358
23	RPIA	NM_144563.3(RPIA):c.55C>A (p.Pro19Thr)	SNV	Uncertain significance	337428	rs756750653	GRCh37: 2:88991271-88991271 GRCh38: 2:88691753-88691753
24	RPIA	NM_144563.3(RPIA):c.*15G>A	SNV	Uncertain significance	337437	rs375899017	GRCh37: 2:89049610-89049610 GRCh38: 2:88750093-88750093
25	RPIA	NM_144563.3(RPIA):c.706G>A (p.Val236Met)	SNV	Uncertain significance	337434	rs752477415	GRCh37: 2:89036161-89036161 GRCh38: 2:88736644-88736644
26	RPIA	NM_144563.3(RPIA):c.527+11T>C	SNV	Uncertain significance	337431	rs777127840	GRCh37: 2:89034144-89034144 GRCh38: 2:88734627-88734627
27	RPIA	NM_144563.3(RPIA):c.*807C>G	SNV	Uncertain significance	337443	rs886056426	GRCh37: 2:89050402-89050402 GRCh38: 2:88750885-88750885
28	RPIA	NM_144563.3(RPIA):c.596+5A>C	SNV	Uncertain significance	337432	rs200342264	GRCh37: 2:89035259-89035259 GRCh38: 2:88735742-88735742
29	RPIA	NM_144563.3(RPIA):c.218C>G (p.Ser73Cys)	SNV	Uncertain significance	337429	rs372920523	GRCh37: 2:88991434-88991434 GRCh38: 2:88691916-88691916
30	RPIA	NM_144563.3(RPIA):c.*256C>T	SNV	Uncertain significance	337438	rs574766296	GRCh37: 2:89049851-89049851 GRCh38: 2:88750334-88750334
31	RPIA	NM_144563.3(RPIA):c.*29T>G	SNV	Uncertain significance	895734		GRCh37: 2:89049624-89049624 GRCh38: 2:88750107-88750107
32	RPIA	NM_144563.3(RPIA):c.*134A>C	SNV	Uncertain significance	895735		GRCh37: 2:89049729-89049729 GRCh38: 2:88750212-88750212
33	RPIA	NM_144563.3(RPIA):c.*241A>G	SNV	Likely benign	895736		GRCh37: 2:89049836-89049836 GRCh38: 2:88750319-88750319
34	RPIA	NM_144563.3(RPIA):c.599_601GTT[1]	Microsatellite	Likely benign	337441	rs371885783	GRCh37: 2:89050193-89050195 GRCh38: 2:88750676-88750678
35	RPIA	NM_144563.3(RPIA):c.858A>G (p.Leu286=)	SNV	Benign	337436	rs142341148	GRCh37: 2:89049517-89049517 GRCh38: 2:88750000-88750000
36	RPIA	NM_144563.3(RPIA):c.633G>A (p.Lys211=)	SNV	Benign	337433	rs72930711	GRCh37: 2:89036088-89036088 GRCh38: 2:88736571-88736571
37	RPIA	NM_144563.3(RPIA):c.*531T>G	SNV	Benign	337440	rs6974	GRCh37: 2:89050126-89050126 GRCh38: 2:88750609-88750609
38	RPIA	NM_144563.3(RPIA):c.5A>G (p.Gln2Arg)	SNV	Benign	897554		GRCh37: 2:88991221-88991221 GRCh38: 2:88691703-88691703

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

⁷²

#	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.

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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 pentose phosphate pathway (oxidative branch) ¹ PRPP biosynthesis ¹	10.44	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

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¹⁶ DrugBank

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¹⁸ ExPASy

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²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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 MedlinePlus Genetics

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 NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

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 Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ 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:

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