Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCarbohydrate Metabolism, Inborn Errors (D002239)
Parent Node:
expandLeukoencephalopathies (D056784)
Parent Node:
expandPolyneuropathies (D011115)
..Starting node
..expandRibose 5-Phosphate Isomerase Deficiency (C563212)

       Child Nodes:



 Sister Nodes: 
..expand46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy (C567773)
..expandAlcoholic Neuropathy (D020269)
..expandAplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..expandAtaxia and Polyneuropathy, Adult-Onset (C564020)
..expandDeafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease (C565120)
..expandHereditary Sensory and Autonomic Neuropathies (D009477) Child12
..expandHereditary Sensory and Motor Neuropathy (D015417) Child164
..expandLaryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy (C565252)
..expandLEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)
..expandLeukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient (C566654)
..expandNeuropathy, Hereditary Sensory, Atypical (C564946)
..expandOptic atrophy polyneuropathy deafness (C537129)
..expandParaneoplastic Polyneuropathy (D020364)
..expandPeripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
..expandPOEMS Syndrome (D016878)
..expandPolyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..expandPolyradiculoneuropathy (D011129) Child18
..expandRibose 5-Phosphate Isomerase Deficiency (C563212)
..expandSevere infantile axonal neuropathy (C537593)
..expandTangier Disease (D013631)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:9857
Name:Ribose 5-Phosphate Isomerase Deficiency
Definition:
Alternative IDs:OMIM:608611
ParentIDs:MESH:D002239|MESH:D011115|MESH:D056784
TreeNumbers:C10.228.140.695/C563212 |C10.668.829.800/C563212 |C16.320.565.202/C563212 |C18.452.648.202/C563212
Synonyms:
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: C563212
MeSH: C563212
OMIM: 608611;

Genes: RPIA;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001251Ataxia
3 HP:0410056Decreased level of erythritol in CSF
4 HP:0410055Decreased level of erythritol in urine
5 HP:0025550Elevated circulating ribitol concentration
6 HP:0001263Global developmental delay
7 HP:0410058Increased level of D-threitol in CSF
8 HP:0410057Increased level of D-threitol in plasma
9 HP:0410059Increased level of D-threitol in urine
10 HP:0410071Increased level of ribitol in CSF
11 HP:0410070Increased level of ribitol in urine
12 HP:0410073Increased level of ribose in CSF
13 HP:0410072Increased level of ribose in urine
14 HP:0410075Increased level of xylitol in CSF
15 HP:0410074Increased level of xylitol in urine
16 HP:0002352Leukoencephalopathy
17 HP:0000648Optic atrophy
18 HP:0001271Polyneuropathy
19 HP:0001250Seizure
20 HP:0007141Sensorimotor neuropathy
21 HP:0001257Spasticity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_144563.2(RPIA):c.404C>T (p.Ala135Val)22934RPIAPathogenic121918591RCV000013882; NMedGen:C1291609,OMIM:608611,SNOMED CT:12466700428902879789028797NM_144563.2:c.404C>TNP_653164.2:p.Ala135ValNC_000002.11:g.89028797C>TOMIM Allelic Variant:180430.0002C1291609 608611 Deficiency of ribose-5-phosphate isomerase
NM_144563.2(RPIA):c.762delG (p.Asn255Ilefs)22934RPIAPathogenic730880316RCV000013881; NMedGen:C1291609,OMIM:608611,SNOMED CT:12466700428903751789037517NM_144563.2:c.762delGNP_653164.2:p.Asn255IlefsNC_000002.11:g.89037517delGOMIM Allelic Variant:180430.0001C1291609 608611 Deficiency of ribose-5-phosphate isomerase