MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
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Ataxia (D001259)
Parent Node:
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Deaf-Blind Disorders (D054062)
Parent Node:
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Genetic Diseases, X-Linked (D040181)
..Starting node
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Arts syndrome (C535388)

       Child Nodes:



 Sister Nodes: 
..expandAarskog Syndrome (C535331) Child1
..expandAbruzzo Erickson syndrome (C535559)
..expandAchromatopsia incomplete, X-linked (C538165)
..expandAdrenal Hypoplasia, Congenital, with Precocious Puberty (C564568)
..expandAgammaglobulinemia, X-linked, type 2 (C538057)
..expandAicardi Syndrome (D058540) Child1
..expandAland Island Eye Disease (C562664)
..expandAlpha-Thalassemia Myelodysplasia Syndrome (C563023)
..expandAlport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570)
..expandAlzheimer Disease 16 (C567463)
..expandAndrogen-Insensitivity Syndrome (D013734) Child2
..expandAnemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency (C567533)
..expandAnemia, sideroblastic spinocerebellar ataxia (C536358)
..expandAnemia, X-Linked, without Thrombocytopenia (C564429)
..expandAnencephaly and spina bifida X-linked (C536359)
..expandAneurysm, Intracranial Berry, 5 (C563670)
..expandAngioma serpiginosum, X-linked (C536366)
..expandArthrogryposis multiplex congenita, distal, X-linked (C535380)
..expandArthrogryposis, X-Linked, Type V (C564574)
..expandArts syndrome (C535388)
..expandAtypical Mycobacteriosis, Familial, X-Linked 1 (C567070)
..expandAtypical Mycobacteriosis, Familial, X-Linked 2 (C567068)
..expandBarth Syndrome (D056889) Child2  LSDB  L: 00399;
..expandBornholm Eye Disease (C564092)
..expandBrain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And (C564519)
..expandBranchial arch syndrome X-linked (C537102)
..expandBrunner Syndrome (C563156)
..expandBruton type agammaglobulinemia (C537409)
..expandBulbo-Spinal Atrophy, X-Linked (D055534) Child1
..expandBullous Dystrophy, Hereditary Macular Type (C563065)
..expandCardiac valvular dysplasia, X-linked (C535576)
..expandCardiomyopathy, Dilated, 3A (C564721)
..expandCataract, congenital, with microcornea or slight microphthalmia (C535338)
..expandChondrodysplasia punctata, brachytelephalangic (C535941)
..expandChoroideremia (D015794) Child2
..expandChromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
..expandChromosome Xq28 Duplication Syndrome (C567580)
..expandCleft Palate with Ankyloglossia (C564442)
..expandCleft palate X-linked (C536426)
..expandCone Dystrophy, X-Linked, 1 (C564439)
..expandCone dystrophy, x-linked, with tapetal-like sheen (C535975)
..expandCone-Rod Dystrophy, X-Linked, 2 (C564717)
..expandCone-Rod Dystrophy, X-Linked, 3 (C564507)
..expandCone-Rod Dystrophy, X-Linked, Type 1 (C564438)
..expandCongenital alopecia X-linked (C535981)
..expandCongenital Heart Defects, X-Linked (C567444)
..expandCongenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (C562515)
..expandCongenital idiopathic intestinal pseudoobstruction (C535532)
..expandCorpus Callosum, Partial Agenesis of, X-Linked (C564115)
..expandCraniofacioskeletal Syndrome (C567471)
..expandDeafness, High-Frequency Sensorineural, X-Linked (C564432)
..expandDeafness, X-Linked 1 (C564433)
..expandDeafness, X-Linked 3 (C564727)
..expandDeafness, X-Linked 4 (C564723)
..expandDeafness, X-Linked 5 (C564472)
..expandDent Disease (D057973) Child1
..expandDent disease 1 (C538212)
..expandDent Disease 2 (C564487)
..expandDyserythropoietic Anemia with Thrombocytopenia (C564525)
..expandDyskeratosis Congenita (D019871) Child3
..expandDystonia 3, Torsion, X-Linked (C564048)
..expandEctodermal Dysplasia 1, Anhidrotic (D053358) Child1
..expandEctodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..expandEctodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
..expandEhlers-Danlos syndrome type 5 (C536197)
..expandEpidermodysplasia Verruciformis, X-Linked (C564430)
..expandEpilepsy, Female-Restricted, with Mental Retardation (C564715)
..expandEpilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (C564505)
..expandEpisodic Muscle Weakness, X-Linked (C564565)
..expandExudative Vitreoretinopathy, Familial, X-Linked Recessive (C564428)
..expandFabry Disease (D000795) Child2
..expandFetal akinesia syndrome, X-linked (C537921)
..expandFg Syndrome 5 (C564480)
..expandFocal Dermal Hypoplasia (D005489) Child1
..expandGlycogen Storage Disease Type IIb (D052120)
..expandGlycogen Storage Disease Type VIII (D006015)
..expandGlycogen Storage Disease, Type IXA2 (C567579)
..expandGlycogen Storage Disease, Type IXD (C564485)
..expandGranulomatous Disease, Chronic (D006105) Child7
..expandHemophilia B (D002836)
..expandHeterotaxy, visceral, X-linked (C538116)
..expandHeterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia (C564725)
..expandHeterotopia, Periventricular, Ehlers-Danlos Variant (C564492)
..expandHodgkin disease, X-linked pseudoautosomal (C538326)
..expandHydrocephalus With Cerebellar Agenesis (C564407)
..expandHydrocephalus, X-linked (C536078)
..expandHydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction (C564408)
..expandHyper-IgM Immunodeficiency Syndrome, Type 1 (D053307) Child1
..expandHyperekplexia and Epilepsy (C564474)
..expandHypertrichosis congenital generalized X-linked (C538388)
..expandHypogammaglobulinemia and Isolated growth hormone deficiency, X-linked (C537149)
..expandHypogammaglobulinemia, X-Linked (C562478)
..expandHypoparathyroidism, X-Linked (C562782)
..expandHypospadias 1, X-Linked (C567482)
..expandHypospadias 2, X-Linked (C567462)
..expandIchthyosis, X-Linked (D016114) Child2
..expandIchthyosis, X-Linked, Complicated (C567443)
..expandImmune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (C580192)
..expandImmunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein (C564120)
..expandIsolated Noncompaction of the Ventricular Myocardium (D056830) Child5
..expandJoubert Syndrome 10 (C567582)
..expandKeratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..expandLeigh Syndrome, X-Linked (C564114)
..expandLeukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
..expandLiver Glycogenosis, X-Linked, Type II (C564421)
..expandLymphoproliferative Syndrome, X-Linked, 2 (C564469)
..expandMacrothrombocytopenia, X-Linked (C564526)
..expandMacular Dystrophy, X-Linked (C564110)
..expandMajor Affective Disorder 2 (C564108)
..expandMartin-Probst Deafness-Mental Retardation Syndrome (C564495)
..expandMASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome (C536029)
..expandMegalocornea (C562829)
..expandMembranoproliferative Glomerulonephritis, X-Linked (C564423)
..expandMental Retardation, Skeletal Dysplasia, and Abducens Palsy (C564101)
..expandMental Retardation, X-Linked (D038901) Child134  LSDB C:4
..expandMental Retardation, X-Linked, Syndromic 12 (C564106)
..expandMental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..expandMental Retardation, X-Linked, Syndromic, Turner Type (C567476)
..expandMental Retardation, X-Linked, Syndromic, Zdhhc9-Related (C567586)
..expandMental Retardation, X-Linked, With Panhypopituitarism (C567485)
..expandMental Retardation, X-Linked, Znf711-Related (C567583)
..expandMicrophthalmia, Isolated, with Coloboma 1 (C564531)
..expandMicrophthalmia, syndromic 7 (C537466)
..expandMidline Defects, X-Linked (C564054)
..expandModifier, X-Linked, for Neurofunctional Defects (C564098)
..expandMultiple Pterygium Syndrome, X-Linked (C564072)
..expandMuscular Dystrophy, Duchenne (D020388) Child1
..expandMuscular Dystrophy, Emery-Dreifuss (D020389) Child10
..expandMuscular Dystrophy, Progressive Pectorodorsal (C564095)
..expandMyopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
..expandMyopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
..expandMyopathy, X-Linked, with Excessive Autophagy (C564093)
..expandMyopia 1 (C564091)
..expandMyopia 13 (C564473)
..expandNance-Horan syndrome (C538336)
..expandNasodigitoacoustic syndrome (C538337)
..expandNEMO mutation with immunodeficiency (C538399)
..expandNephrogenic Syndrome of Inappropriate Antidiuresis (C564491)
..expandNephrolithiasis, X-Linked Recessive, with Renal Failure (C562901)
..expandNeural tube defects X-linked (C536410)
..expandNeuropathy, Hereditary Sensory, X-Linked (C564090)
..expandNeutropenia, Severe Congenital, X-Linked (C564539)
..expandNight blindness, congenital stationary (C536122) Child4
..expandNorrie disease (C537849)
..expandNystagmus 5, Infantile Periodic Alternating (C564478)
..expandOculocerebrorenal Syndrome (D009800) Child1
..expandOphthalmoplegia, External, and Myopia (C564087)
..expandOpitz GBBB Syndrome, X-Linked (C567932)
..expandOptic atrophy, X-linked (C537125)
..expandOrnithine Carbamoyltransferase Deficiency Disease (D020163) Child1
..expandOvarian Dysgenesis 2 (C564499)
..expandPanhypopituitarism X-linked (C538613)
..expandParathyroid Glands, Agenesis Of (C563238)
..expandParkinson Disease 12 (C564486)
..expandParkinsonism, early onset with mental retardation (C537179)
..expandPelizaeus-Merzbacher Disease (D020371) Child1
..expandPhosphoglycerate Kinase 1 Deficiency (C567067)
..expandPigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..expandPremature Ovarian Failure 2a (C564498)
..expandProgressive hearing loss stapes fixation (C536424)
..expandProperdin Deficiency, Type II (C564075)
..expandProperdin Deficiency, Type III (C564076)
..expandProperdin deficiency, X-linked (C537241)
..expandPROSTATE CANCER, HEREDITARY, X-LINKED 1 (OMIM:300147)
..expandProstate Cancer, Hereditary, X-Linked 2 (C567477)
..expandProtoporphyria, Erythropoietic, X-Linked Dominant (C567464)
..expandProud Syndrome (C563110)
..expandPtosis, Hereditary Congenital 2 (C564553)
..expandRadial Ray Deficiency, X-Linked (C564523)
..expandRadiation Sensitivity of Natural Killer Activity (C564066)
..expandRadius absent anogenital anomalies (C535281)
..expandReticuloendotheliosis, X-linked (C538362)
..expandRetinitis Pigmentosa 3 (C564520)
..expandRetinitis Pigmentosa 34 (C564475)
..expandRetinitis Pigmentosa 6 (C564065)
..expandRetinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..expandRolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked (C564467)
..expandRussell-Silver Syndrome, X-Linked (C562446)
..expandShort Stature, Idiopathic, X-Linked (C564479)
..expandSimpson-Golabi-Behmel syndrome (C537340)
..expandSimpson-Golabi-Behmel Syndrome, Type 2 (C564567)
..expandSketetal dysplasia coarse facies mental retardation (C536671)
..expandSpastic paraplegia 16, X-linked (C536643)
..expandSpastic paraplegia 2, X-linked (C536857)
..expandSpastic Paraplegia 34, X-Linked (C567465)
..expandSpina Bifida, X-Linked (C564459)
..expandSpinal Muscular Atrophy, Distal, X-Linked 3 (C564506)
..expandSpinocerebellar Ataxia, X-Linked 1 (C563134)
..expandSpinocerebellar Ataxia, X-Linked 5 (C567478)
..expandSpinocerebellar ataxia, X-linked, 3 (C537315)
..expandSplit-Hand Foot Malformation 2 (C564056) Child1
..expandSpondyloepimetaphyseal Dysplasia, X-Linked (C564714)
..expandSpondylometaphyseal Dysplasia, X-Linked (C563124)
..expandSurfactant Metabolism Dysfunction, Pulmonary, 4 (C567461)
..expandTERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..expandTerminal Osseous Dysplasia and Pigmentary Defects (C564554)
..expandTesticular Germ Cell Tumor 1 (C564559)
..expandThrombocytopenia 1 (C564052)
..expandThrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis (C564050)
..expandThrombocytopenia, X-Linked, Intermittent (C564053)
..expandThrombocytosis, Familial X-Linked (C564532)
..expandThrombophilia, X-Linked, Due To Factor Ix Defect (C567581)
..expandThyroxine-Binding Globulin Deficiency (C564049)
..expandTooth Agenesis, Selective, X-Linked, 1 (C567060)
..expandTorticollis keloids cryptorchidism renal dysplasia (C536970)
..expandVACTERL Association With Hydrocephalus (C564751)
..expandVasquez Hurst Sotos syndrome (C536533)
..expandVesicoureteral Reflux, X-Linked (C564042)
..expandVon Willebrand Disease, X-Linked Form (C564041)
..expandWells Jankovic syndrome (C536692)
..expandWieacker syndrome (C536703)
..expandWiskott-Aldrich Syndrome (D014923) Child1
..expandX Inactivation, Familial Skewed, 1 (C564716)
..expandX Inactivation, Familial Skewed, 2 (C564572)
..expandX-Linked Chondrodysplasia Punctata 1 (C580533)
..expandX-Linked Combined Immunodeficiency Diseases (D053632) Child1
..expandX-Linked Infantile Nystagmus (C580539)
..expandX-linked sideroblastic anemia (C536761)
..expandX-linked tetra-amelia (C536497)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:978
Name:Arts syndrome
Definition:
Alternative IDs:DO:DOID:0050647|OMIM:301835
ParentIDs:MESH:D001259|MESH:D040181|MESH:D054062
TreeNumbers:C09.218.458.341.186.500/C535388 |C10.597.350.090/C535388 |C10.597.751.418.341.186.500/C535388 |C10.597.751.941.162.625/C535388 |C11.966.075.375/C535388 |C16.131.077.299/C535388 |C16.320.322/C535388 |C23.888.592.350.090/C535388 |C23.888.592.763.393.341.186.500/C5
Synonyms:ARTS |Ataxia-Deafness-Optic Atrophy, Lethal |Ataxia, Fatal X-Linked, with Deafness and Loss of Vision |MENTAL RETARDATION, X-LINKED, SYNDROMIC 18 |MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE |MRXS18 |MRXSARTS |X-linked fatal ataxia with deafness and loss
Slim Mappings:Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms
Reference: MedGen: C535388
MeSH: C535388
OMIM: 301835;
MSeqDR LSDB:  
Genes: PRPS1;
Phenotypes
1 HP:0001419X-linked recessive inheritance
2 HP:0001344Absent speech
3 HP:0001284Areflexia
4 HP:0001251Ataxia
5 HP:0001522Death in infancy
6 HP:0002307Drooling
7 HP:0002015Dysphagia
NAMDC:  Dysphagia
8 HP:0001263Global developmental delay
NAMDC:  Mental retardation
9 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
10 HP:0001510Growth delay
NAMDC:  Growth delay
11 HP:0000365Hearing impairment
12 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
HP:0040283
13 HP:0002721Immunodeficiency
14 HP:0001249Intellectual disability
15 HP:0001319Neonatal hypotonia
NAMDC:  Floppy baby
16 HP:0000639Nystagmus
17 HP:0000648Optic atrophy
18 HP:0009830Peripheral neuropathy
19 HP:0003323Progressive muscle weakness
20 HP:0002719Recurrent infections
21 HP:0002788Recurrent upper respiratory tract infections
22 HP:0001250Seizures
NAMDC:  Seizures
23 HP:0008311Spinal cord posterior columns myelin loss
24 HP:0002445Tetraplegia
25 HP:0000572Visual loss
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_002764.3(PRPS1):c.-153delG5631PRPS1Likely benign768856537RCV000325171; RCV000359974; RCV000384451; RCV000270057; NMedGen:C0796028,OMIM:301835, Orphanet:ORPHA1187; MedGen:CN239255; MedGen:CN239399; MedGen:C1970827,OMIM:300661, Orphanet:ORPHA3222X106871706106871706-C0796028 301835 Arts syndrome;
NM_002764.3(PRPS1):c.336T>C (p.Val112=)5631PRPS1Benign80338674RCV000020486; NMedGen:C0796028,OMIM:301835, Orphanet:ORPHA1187X106884161106884161-C0796028 301835 Arts syndrome;
NM_002764.3(PRPS1):c.398A>C (p.Gln133Pro)5631PRPS1Pathogenic80338675RCV000010615; NMedGen:C0796028,OMIM:301835, Orphanet:ORPHA1187X106884223106884223OMIM Allelic Variant:311850.0012,UniProtKB (protein):P60891#VAR_036943C0796028 301835 Arts syndrome;
NM_002764.3(PRPS1):c.424G>C (p.Val142Leu)5631PRPS1Pathogenic398122855RCV000022882; NMedGen:C0796028,OMIM:301835, Orphanet:ORPHA1187X106885614106885614OMIM Allelic Variant:311850.0017C0796028 301835 Arts syndrome;
NM_002764.3(PRPS1):c.444G>A (p.Glu148=)5631PRPS1Likely benign201285459RCV000271803; RCV000331549; RCV000296329; RCV000386019; NMedGen:C0796028,OMIM:301835, Orphanet:ORPHA1187; MedGen:CN239255; MedGen:CN239399; MedGen:C1970827,OMIM:300661, Orphanet:ORPHA3222X106885634106885634-C0796028 301835 Arts syndrome;
NM_002764.3(PRPS1):c.447G>A (p.Pro149=)5631PRPS1Benign/Likely benign80338730RCV000020488; RCV000551005; RCV000278701; RCV000721097; RCV000337089; RCV000351270; RCV000440183; NMedGen:C0796028,OMIM:301835, Orphanet:ORPHA1187; MedGen:CN118851; MedGen:CN239255; MedGen:C2711754; MedGen:CN239399; MedGen:C1970827,OMIM:300661, Orphanet:ORPHA3222; MedGen:CN169374X106885637106885637-C0796028 301835 Arts syndrome;
NM_002764.3(PRPS1):c.455T>C (p.Leu152Pro)5631PRPS1Uncertain significance80338676RCV000010614; RCV000178182; NMedGen:C0796028,OMIM:301835, Orphanet:ORPHA1187; MedGen:CN517202X106885645106885645OMIM Allelic Variant:311850.0011,UniProtKB (protein):P60891#VAR_036944C0796028 301835 Arts syndrome;
NM_002764.3(PRPS1):c.456A>G (p.Leu152=)5631PRPS1Benign/Likely benign61735617RCV000393656; RCV000539455; RCV000342950; RCV000720978; RCV000393649; RCV000283249; RCV000757690; RCV000151682; NMedGen:C0796028,OMIM:301835, Orphanet:ORPHA1187; MedGen:CN118851; MedGen:CN239255; MedGen:C2711754; MedGen:CN239399; MedGen:C1970827,OMIM:300661, Orphanet:ORPHA3222; MedGen:CN517202; MedGen:CN169374X106885646106885646-C0796028 301835 Arts syndrome;
NM_002764.3(PRPS1):c.477C>T (p.Ile159=)5631PRPS1Benign/Likely benign61752962RCV000308646; RCV000204144; RCV000307914; RCV000362584; RCV000402522; RCV000080032; NMedGen:C0796028,OMIM:301835, Orphanet:ORPHA1187; MedGen:CN118851; MedGen:CN239255; MedGen:CN239399; MedGen:C1970827,OMIM:300661, Orphanet:ORPHA3222; MedGen:CN169374X106885667106885667-C0796028 301835 Arts syndrome;
NM_002764.3(PRPS1):c.830A>C (p.Gln277Pro)5631PRPS1Pathogenic869025593RCV000208743; RCV000208721; NMedGen:C0796028,OMIM:301835, Orphanet:ORPHA1187; MedGen:C1844677,OMIM:304500X106890961106890961OMIM Allelic Variant:311850.0019C0796028 301835 Arts syndrome;
NM_002764.3(PRPS1):c.*88C>T5631PRPS1Uncertain significance1057515726RCV000368028; RCV000369308; RCV000333212; RCV000273461; NMedGen:C0796028,OMIM:301835, Orphanet:ORPHA1187; MedGen:CN239255; MedGen:CN239399; MedGen:C1970827,OMIM:300661, Orphanet:ORPHA3222X106893350106893350-C0796028 301835 Arts syndrome;
NM_002764.3(PRPS1):c.*159G>A5631PRPS1Uncertain significance747334780RCV000375137; RCV000281247; RCV000260549; RCV000315849; NMedGen:C0796028,OMIM:301835, Orphanet:ORPHA1187; MedGen:CN239255; MedGen:CN239399; MedGen:C1970827,OMIM:300661, Orphanet:ORPHA3222X106893421106893421-C0796028 301835 Arts syndrome;
NM_002764.3(PRPS1):c.*166G>A5631PRPS1Uncertain significance371265973RCV000322205; RCV000376822; RCV000287026; RCV000341919; NMedGen:C0796028,OMIM:301835, Orphanet:ORPHA1187; MedGen:CN239255; MedGen:CN239399; MedGen:C1970827,OMIM:300661, Orphanet:ORPHA3222X106893428106893428-C0796028 301835 Arts syndrome;
NM_002764.3(PRPS1):c.*178G>A5631PRPS1Likely benign576933222RCV000288158; RCV000406997; RCV000347733; RCV000407006; NMedGen:C0796028,OMIM:301835, Orphanet:ORPHA1187; MedGen:CN239255; MedGen:CN239399; MedGen:C1970827,OMIM:300661, Orphanet:ORPHA3222X106893440106893440-C0796028 301835 Arts syndrome;
NM_002764.3(PRPS1):c.*389G>C5631PRPS1Uncertain significance5962870RCV000367849; RCV000403810; RCV000314394; RCV000313159; NMedGen:C0796028,OMIM:301835, Orphanet:ORPHA1187; MedGen:CN239255; MedGen:CN239399; MedGen:C1970827,OMIM:300661, Orphanet:ORPHA3222X106893651106893651-C0796028 301835 Arts syndrome;
NM_002764.3(PRPS1):c.*538G>C5631PRPS1Uncertain significance1057515727RCV000358765; RCV000320104; RCV000260234; RCV000355125; NMedGen:C0796028,OMIM:301835, Orphanet:ORPHA1187; MedGen:CN239255; MedGen:CN239399; MedGen:C1970827,OMIM:300661, Orphanet:ORPHA3222X106893800106893800-C0796028 301835 Arts syndrome;
NM_002764.3(PRPS1):c.*538G>T5631PRPS1Uncertain significance1057515727RCV000263927; RCV000378456; RCV000323892; RCV000288766; NMedGen:C0796028,OMIM:301835, Orphanet:ORPHA1187; MedGen:CN239255; MedGen:CN239399; MedGen:C1970827,OMIM:300661, Orphanet:ORPHA3222X106893800106893800-C0796028 301835 Arts syndrome;
NM_002764.3(PRPS1):c.*725T>C5631PRPS1Likely benign183744100RCV000349093; RCV000325107; RCV000384374; RCV000291842; NMedGen:C0796028,OMIM:301835, Orphanet:ORPHA1187; MedGen:CN239255; MedGen:CN239399; MedGen:C1970827,OMIM:300661, Orphanet:ORPHA3222X106893987106893987-C0796028 301835 Arts syndrome;
NM_002764.3(PRPS1):c.*762G>T5631PRPS1Uncertain significance768310830RCV000295229; RCV000408413; RCV000387246; RCV000352475; NMedGen:C0796028,OMIM:301835, Orphanet:ORPHA1187; MedGen:CN239255; MedGen:CN239399; MedGen:C1970827,OMIM:300661, Orphanet:ORPHA3222X106894024106894024-C0796028 301835 Arts syndrome;
NM_002764.3(PRPS1):c.*938dupA5631PRPS1Uncertain significance1057515728RCV000408417; RCV000301980; RCV000298617; RCV000337290; NMedGen:C0796028,OMIM:301835, Orphanet:ORPHA1187; MedGen:CN239255; MedGen:CN239399; MedGen:C1970827,OMIM:300661, Orphanet:ORPHA3222X106894200106894200-C0796028 301835 Arts syndrome;
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