Entry Search - 301835 304500 311070 311850 - OMIM
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Search: '301835 304500 311070 311850 (Search in: MIM number)'
Results: 4 entries.

1:
* 311850. PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE I; PRPS1
Cytogenetic location: Xq22.3, Genomic coordinates (GRCh38): X:107,628,510-107,651,026
Matching terms: 311850
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
Xq22.3 Arts syndrome 301835 XLR 3
Charcot-Marie-Tooth disease, X-linked recessive, 5 311070 XLR 3
Deafness, X-linked 1 304500 XL 3
Gout, PRPS-related 300661 XLR 3
Phosphoribosylpyrophosphate synthetase superactivity 300661 XLR 3
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ICD+
SNOMEDCT: 702441001, 723454008, 763460007
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2:
# 311070. CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5
Cytogenetic location: Xq22.3
Matching terms: 311070
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
Xq22.3 Charcot-Marie-Tooth disease, X-linked recessive, 5 311070 XLR 3 PRPS1 311850
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Charcot-Marie-Tooth disease - PS118220 - 82 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.31 Charcot-Marie-Tooth disease, recessive intermediate C AR 3 615376 PLEKHG5 611101
1p36.22 Charcot-Marie-Tooth disease, type 2A1 AD 3 118210 KIF1B 605995
1p36.22 Hereditary motor and sensory neuropathy VIA AD 3 601152 MFN2 608507
1p36.22 Charcot-Marie-Tooth disease, axonal, type 2A2B AR 3 617087 MFN2 608507
1p36.22 Charcot-Marie-Tooth disease, axonal, type 2A2A AD 3 609260 MFN2 608507
1p35.1 Charcot-Marie-Tooth disease, dominant intermediate C AD 3 608323 YARS1 603623
1p13.1 Charcot-Marie-Tooth disease, axonal, type 2DD AD 3 618036 ATP1A1 182310
1q22 Charcot-Marie-Tooth disease, type 2B1 AR 3 605588 LMNA 150330
1q23.2 Charcot-Marie-Tooth disease, axonal, type 2FF AD 3 619519 CADM3 609743
1q23.3 Charcot-Marie-Tooth disease, type 2I AD 3 607677 MPZ 159440
1q23.3 Charcot-Marie-Tooth disease, type 1B AD 3 118200 MPZ 159440
1q23.3 Charcot-Marie-Tooth disease, dominant intermediate D AD 3 607791 MPZ 159440
1q23.3 Charcot-Marie-Tooth disease, type 2J AD 3 607736 MPZ 159440
1q23.3 Dejerine-Sottas disease AD, AR 3 145900 MPZ 159440
2p23.3 Charcot-Marie-Tooth disease, axonal, type 2EE AR 3 618400 MPV17 137960
3q21.3 Charcot-Marie-Tooth disease, type 2B AD 3 600882 RAB7 602298
3q25.2 Charcot-Marie-Tooth disease, axonal, type 2T AD, AR 3 617017 MME 120520
3q26.33 Charcot-Marie-Tooth disease, dominant intermediate F AD 3 615185 GNB4 610863
4q31.3 Charcot-Marie-Tooth disease, type 2R AR 3 615490 TRIM2 614141
5q31.3 Charcot-Marie-Tooth disease, axonal, type 2W AD 3 616625 HARS1 142810
5q32 Charcot-Marie-Tooth disease, type 4C AR 3 601596 SH3TC2 608206
6p21.31 Charcot-Marie-Tooth disease, demyelinating, type 1J AD 3 620111 ITPR3 147267
6q21 Charcot-Marie-Tooth disease, type 4J AR 3 611228 FIG4 609390
7p14.3 Charcot-Marie-Tooth disease, type 2D AD 3 601472 GARS1 600287
7q11.23 Charcot-Marie-Tooth disease, axonal, type 2F AD 3 606595 HSPB1 602195
8p21.2 Charcot-Marie-Tooth disease, dominant intermediate G AD 3 617882 NEFL 162280
8p21.2 Charcot-Marie-Tooth disease, type 2E AD 3 607684 NEFL 162280
8p21.2 Charcot-Marie-Tooth disease, type 1F AD, AR 3 607734 NEFL 162280
8q13-q23 Charcot-Marie-Tooth disease, axonal, type 2H AR 2 607731 CMT2H 607731
8q21.11 {?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K, modifier of} AD, AR 3 607831 JPH1 605266
8q21.11 Charcot-Marie-Tooth disease, axonal, type 2K AD, AR 3 607831 GDAP1 606598
8q21.11 Charcot-Marie-Tooth disease, type 4A AR 3 214400 GDAP1 606598
8q21.11 Charcot-Marie-Tooth disease, recessive intermediate, A AR 3 608340 GDAP1 606598
8q21.11 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis AR 3 607706 GDAP1 606598
8q21.13 Charcot-Marie-Tooth disease, demyelinating, type 1G AD 3 618279 PMP2 170715
8q24.22 Charcot-Marie-Tooth disease, type 4D AR 3 601455 NDRG1 605262
9p13.3 Charcot-Marie-Tooth disease, type 2Y AD 3 616687 VCP 601023
9q33.3-q34.11 Charcot-Marie-Tooth disease, axonal, type 2P AD, AR 3 614436 LRSAM1 610933
9q34.2 Charcot-Marie-Tooth disease, type 4K AR 3 616684 SURF1 185620
10p14 ?Charcot-Marie-Tooth disease, axonal, type 2Q AD 3 615025 DHTKD1 614984
10q21.3 Charcot-Marie-Tooth disease, type 1D AD 3 607678 EGR2 129010
10q21.3 Dejerine-Sottas disease AD, AR 3 145900 EGR2 129010
10q21.3 Hypomyelinating neuropathy, congenital, 1 AD, AR 3 605253 EGR2 129010
10q22.1 Neuropathy, hereditary motor and sensory, Russe type AR 3 605285 HK1 142600
10q24.32 Charcot-Marie-Tooth disease, axonal, type 2GG AD 3 606483 GBF1 603698
10q26.11 Charcot-Marie-Tooth disease, axonal, type 2JJ AD 3 621095 BAG3 603883
11p15.4 Charcot-Marie-Tooth disease, type 4B2 AR 3 604563 SBF2 607697
11q13.3 Charcot-Marie-Tooth disease, axonal, type 2S AR 3 616155 IGHMBP2 600502
11q21 Charcot-Marie-Tooth disease, type 4B1 AR 3 601382 MTMR2 603557
12p11.21 Charcot-Marie-Tooth disease, type 4H AR 3 609311 FGD4 611104
12q13.3 Charcot-Marie-Tooth disease, axonal, type 2U AD 3 616280 MARS1 156560
12q23.3 Charcot-Marie-Tooth disease, demyelinating, type 1I AD 3 619742 POLR3B 614366
12q24.11 Hereditary motor and sensory neuropathy, type IIc AD 3 606071 TRPV4 605427
12q24.23 Charcot-Marie-Tooth disease, axonal, type 2L AD 3 608673 HSPB8 608014
12q24.31 Charcot-Marie-Tooth disease, recessive intermediate D AR 3 616039 COX6A1 602072
14q32.12 Charcot-Marie-Tooth disease, demyelinating, type 1H AD 3 619764 FBLN5 604580
14q32.31 Charcot-Marie-Tooth disease, axonal, type 2O AD 3 614228 DYNC1H1 600112
14q32.33 Charcot-Marie-Tooth disease, dominant intermediate E AD 3 614455 INF2 610982
15q14 Charcot-Marie-Tooth disease, axonal, type 2II AD 3 620068 SLC12A6 604878
15q21.1 Charcot-Marie-Tooth disease, axonal, type 2X AR 3 616668 SPG11 610844
16p13.13 Charcot-Marie-Tooth disease, type 1C AD 3 601098 LITAF 603795
16q22.1 Charcot-Marie-Tooth disease, axonal, type 2N AD 3 613287 AARS1 601065
16q23.1 ?Charcot-Marie-Tooth disease, recessive intermediate, B AR 3 613641 KARS1 601421
17p12 Dejerine-Sottas disease AD, AR 3 145900 PMP22 601097
17p12 Charcot-Marie-Tooth disease, type 1E AD 3 118300 PMP22 601097
17p12 Charcot-Marie-Tooth disease, type 1A AD 3 118220 PMP22 601097
17q21.2 ?Charcot-Marie-Tooth disease, axonal, type 2V AD 3 616491 NAGLU 609701
19p13.2 Charcot-Marie-Tooth disease, dominant intermediate B AD 3 606482 DNM2 602378
19p13.2 Charcot-Marie-Tooth disease, axonal type 2M AD 3 606482 DNM2 602378
19q13.2 Charcot-Marie-Tooth disease, type 4F AR 3 614895 PRX 605725
19q13.2 Dejerine-Sottas disease AD, AR 3 145900 PRX 605725
19q13.33 ?Charcot-Marie-Tooth disease, type 2B2 AR 3 605589 PNKP 605610
20p12.2 Charcot-Marie-Tooth disease, axonal, type 2HH AD 3 619574 JAG1 601920
22q12.2 Charcot-Marie-Tooth disease, axonal, type 2CC AD 3 616924 NEFH 162230
22q12.2 Charcot-Marie-Tooth disease, axonal, type 2Z AD 3 616688 MORC2 616661
22q13.33 Charcot-Marie-Tooth disease, type 4B3 AR 3 615284 SBF1 603560
Xp22.2 Charcot-Marie-Tooth neuropathy, X-linked recessive, 2 XLR 2 302801 CMTX2 302801
Xp22.11 ?Charcot-Marie-Tooth disease, X-linked dominant, 6 XLD 3 300905 PDK3 300906
Xq13.1 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 XLD 3 302800 GJB1 304040
Xq22.3 Charcot-Marie-Tooth disease, X-linked recessive, 5 XLR 3 311070 PRPS1 311850
Xq26 Charcot-Marie-Tooth neuropathy, X-linked recessive, 3 XLR 4 302802 CMTX3 302802
Xq26.1 Cowchock syndrome XLR 3 310490 AIFM1 300169
▲ Close
ICD+
SNOMEDCT: 763460007
ORPHA: 99014
DO: 0110210
▲ Close

3:
# 304500. DEAFNESS, X-LINKED 1; DFNX1
Cytogenetic location: Xq22.3
Matching terms: 304500
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
Xq22.3 Deafness, X-linked 1 304500 XL 3 PRPS1 311850
▲ Close
ICD+
ORPHA: 90625
DO: 0111739
▲ Close

4:
# 301835. ARTS SYNDROME; ARTS
Cytogenetic location: Xq22.3
Matching terms: 301835
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
Xq22.3 Arts syndrome 301835 XLR 3 PRPS1 311850
▲ Close
Intellectual developmental disorder, X-linked syndromic - PS309510 - 56 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
Xp22.2 Raynaud-Claes syndrome XLD 3 300114 CLCN4 302910
Xp22.2 Basilicata-Akhtar syndrome XLD 3 301032 MSL3 300609
Xp22.2 Intellectual developmental disorder, X-linked syndromic, Pilorge type XL 3 301076 GLRA2 305990
Xp22.2 Pettigrew syndrome XLR 3 304340 AP1S2 300629
Xp22.12 Intellectual developmental disorder, X-linked syndromic, Houge type XL 3 301008 CNKSR2 300724
Xp22.11 Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type XLR 3 309583 SMS 300105
Xp22.11 MEHMO syndrome XLR 3 300148 EIF2S3 300161
Xp22.11 Intellectual developmental disorder, X-linked syndromic 37 XL 3 301118 ZFX 314980
Xp22.11-p21.3 Van Esch-O'Driscoll syndrome XLR 3 301030 POLA1 312040
Xp21.3 Partington syndrome XLR 3 309510 ARX 300382
Xp21.1-p11.23 Intellectual developmental disorder, X-linked syndromic 17 XLR 2 300858 MRXS17 300858
Xp11 ?Intellectual developmental disorder, X-linked syndromic 12 XL 2 309545 MRXS12 309545
Xp11.4 Intellectual developmental disorder, X-linked syndromic, Hedera type XLR 3 300423 ATP6AP2 300556
Xp11.4 Intellectual developmental disorder, X-linked syndromic, Snijders Blok type XLD, XLR 3 300958 DDX3X 300160
Xp11.4 Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia XL 3 300749 CASK 300172
Xp11.3-q22 Intellectual developmental disorder, X-linked syndromic 7 XL 2 300218 MRXS7 300218
Xp11.2 Intellectual developmental disorder, X-linked, syndromic, Stocco dos Santos type XL 2 300434 SDSX 300434
Xp11.23 Renpenning syndrome XLR 3 309500 PQBP1 300463
Xp11.22 Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type XLR 3 300534 KDM5C 314690
Xp11.22 Intellectual developmental disorder, X-linked syndromic, Turner type XL 3 309590 HUWE1 300697
Xp11.22 Intellectual developmental disorder, X-linked syndromic, Siderius type XLR 3 300263 PHF8 300560
Xp11.22 Prieto syndrome XLR 3 309610 WNK3 300358
Xp11.22 Intellectual developmental disorder, X-linked syndromic 16 XLR 3 305400 FGD1 300546
Xp11.22 Aarskog-Scott syndrome XLR 3 305400 FGD1 300546
Xq11.2 Wieacker-Wolff syndrome XLR 3 314580 ZC4H2 300897
Xq12-q21.31 Intellectual developmental disorder, X-linked syndromic 9 2 300709 MRXS9 300709
Xq12 Wilson-Turner syndrome XLR 3 309585 LAS1L 300964
Xq12 Intellectual developmental disorder, X-linked syndromic, Billuart type XLR 3 300486 OPHN1 300127
Xq13-q21 Martin-Probst syndrome XLR 2 300519 MRXSMP 300519
Xq13.1 ?Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia XLR 3 300472 IGBP1 300139
Xq13.1 Lujan-Fryns syndrome XLR 3 309520 MED12 300188
Xq13.1 Intellectual developmental disorder, X-linked syndromic 34 XL 3 300967 NONO 300084
Xq13.1 Intellectual developmental disorder, X-linked syndromic 33 XLR 3 300966 TAF1 313650
Xq13.2 Intellectual developmental disorder, X-linked syndromic, Abidi type XL 2 300262 MRXSAB 300262
Xq13.2 Tonne-Kalscheuer syndrome XL 3 300978 RLIM 300379
Xq21.33-q23 Intellectual developmental disorder, X-linked syndromic, Chudley-Schwartz type XLR 2 300861 MRXSCS 300861
Xq22.1 Intellectual developmental disorder, X-linked syndromic, Bain type XLD 3 300986 HNRNPH2 300610
Xq22.3 Arts syndrome XLR 3 301835 PRPS1 311850
Xq24 Intellectual developmental disorder, X-linked syndromic, Nascimento type XLR 3 300860 UBE2A 312180
Xq24 Intellectual developmental disorder, X-linked syndromic 14 XLR 3 300676 UPF3B 300298
Xq24 Intellectual developmental disorder, X-linked syndromic, Hackman-Di Donato type XLR 3 301039 NKAP 300766
Xq24 Intellectual developmental disorder, X-linked syndromic, Cabezas type XLR 3 300354 CUL4B 300304
Xq25 Intellectual developmental disorder, X-linked syndromic, Wu type XLR 3 300699 GRIA3 305915
Xq26.1 Intellectual developmental disorder, X-linked syndromic, Raymond type XL 3 300799 ZDHHC9 300646
Xq26.2 ?Paganini-Miozzo syndrome XLR 3 301025 HS6ST2 300545
Xq26.2 Borjeson-Forssman-Lehmann syndrome XLR 3 301900 PHF6 300414
Xq26.3 Intellectual developmental disorder, X-linked syndromic, Christianson type XL 3 300243 SLC9A6 300231
Xq26.3 ?Intellectual developmental disorder, X-linked syndromic, Shashi type XLR 3 300238 RBMX 300199
Xq26.3 ?Intellectual developmental disorder, X-linked syndromic, Gustavson type XLR 3 309555 RBMX 300199
Xq27.3 Fragile X syndrome XLD 3 300624 FMR1 309550
Xq28 Intellectual developmental disorder, X-linked 109 XLR 3 309548 AFF2 300806
Xq28 Intellectual developmental disorder, X-linked syndromic 13 XLR 3 300055 MECP2 300005
Xq28 Intellectual developmental disorder, X-linked syndromic, Lubs type XLR 3 300260 MECP2 300005
Xq28 Intellectual developmental disorder, X-linked syndromic 35 XLR 3 300998 RPL10 312173
Xq28 Intellectual developmental disorder, X-linked syndromic, Armfield type XLR 3 300261 FAM50A 300453
Chr.X Intellectual developmental disorder, X-linked, syndromic 32 XLR 2 300886 MRXS32 300886
▲ Close
ICD+
SNOMEDCT: 702441001
ORPHA: 1187
DO: 0050647
▲ Close
Search: 301835 304500 311070 311850 (Search in: MIM number)
Results: 4 entries.

1:
* 311850. PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE I; PRPS1
Cytogenetic location: Xq22.3, Genomic coordinates (GRCh38): X:107,628,510-107,651,026
Matching terms: 311850

2:
# 311070. CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5
Cytogenetic location: Xq22.3
Matching terms: 311070

3:
# 304500. DEAFNESS, X-LINKED 1; DFNX1
Cytogenetic location: Xq22.3
Matching terms: 304500

4:
# 301835. ARTS SYNDROME; ARTS
Cytogenetic location: Xq22.3
Matching terms: 301835


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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
Printed: March 5, 2025