CMTX5
MCID: CHR408
MIFTS: 43

Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 (CMTX5)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, X-Linked Recessive, 5:

Name: Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 57 72 13 70
Rosenberg-Chutorian Syndrome 57 12 73 20 72
Cmtx5 57 12 20 58 72
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5 29 6 39
Optic Atrophy, Polyneuropathy, and Deafness 57 12 20
X-Linked Charcot-Marie-Tooth Disease Type 5 12 20 58
Charcot-Marie-Tooth Neuropathy X-Linked Recessive 5 12 72
Charcot-Marie-Tooth Disease X-Linked Recessive 5 12 15
Cmt5x 12 58
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive 20
Optic Atrophy, Neural Deafness, and Distal Neurogenic Amyotrophy 20
Familial Opticoacoustic Nerve Degeneration and Polyneuropathy 20
Optic Atrophy, Sensorineural Hearing Loss and Polyneuropathy 20
Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5 57
Optic Atrophy with Polyneuropathy and Deafness 72
Charcot-Marie-Tooth Neuropathy X Type 5 20
Optic Atrophy Polyneuropathy Deafness 20

Characteristics:

Orphanet epidemiological data:

58
x-linked charcot-marie-tooth disease type 5
Inheritance: X-linked recessive;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
variable severity
female carriers may have hearing loss and/or subclinical peripheral neuropathy
onset of motor disturbances in childhood
possible autosomal dominant and autosomal recessive forms

Inheritance:
x-linked recessive


HPO:

31
charcot-marie-tooth disease, x-linked recessive, 5:
Onset and clinical course variable expressivity childhood onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0110210
OMIM® 57 311070
OMIM Phenotypic Series 57 PS118220
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 71 C1839566
Orphanet 58 ORPHA99014
MedGen 41 C1839566
UMLS 70 C1839566

Summaries for Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

UniProtKB/Swiss-Prot : 72 Charcot-Marie-Tooth disease, X-linked recessive, 5: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy.

MalaCards based summary : Charcot-Marie-Tooth Disease, X-Linked Recessive, 5, also known as rosenberg-chutorian syndrome, is related to x-linked charcot-marie-tooth disease and charcot-marie-tooth disease type 5, and has symptoms including gait ataxia An important gene associated with Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 is PRPS1 (Phosphoribosyl Pyrophosphate Synthetase 1), and among its related pathways/superpathways are Metabolism of nucleotides and Carbon metabolism. Affiliated tissues include eye and skeletal muscle, and related phenotypes are muscle weakness and hearing impairment

Disease Ontology : 12 A Charcot-Marie-Tooth disease X-linked that has material basis in loss-of-function mutation in the PRPS1 gene on chromosome Xq22.

OMIM® : 57 The phenotype of X-linked Charcot-Marie-Tooth disease-5 typically comprises the triad of optic atrophy, deafness, and polyneuropathy. However, patients without optic atrophy have been reported (summary by Park et al., 2013). For a discussion of genetic heterogeneity of X-linked Charcot-Marie-Tooth disease, see CMTX1 (302800). See 165199 and 258650 for possible autosomal dominant and autosomal recessive forms of the disorder. (311070) (Updated 05-Apr-2021)

Wikipedia : 73 Charcot-Marie-Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous... more...

Related Diseases for Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

Diseases in the Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 family:

Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Charcot-Marie-Tooth Disease X-Linked Recessive 4 X-Linked Charcot-Marie-Tooth Disease

Diseases related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 x-linked charcot-marie-tooth disease 31.7 PRPS1 GJB1
2 charcot-marie-tooth disease type 5 29.9 PRPS1L1 PRPS1 MSMB
3 phosphoribosylpyrophosphate synthetase superactivity 29.2 PRPS2 PRPS1L1 PRPS1 MSMB ADSL
4 arts syndrome 29.0 UMPS PRPSAP1 PRPS2 PRPS1L1 PRPS1 POU3F4
5 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive 11.6
6 charcot-marie-tooth neuropathy x type 5 11.6
7 charcot-marie-tooth disease 11.0
8 foot drop 10.3
9 acquired peripheral neuropathy 10.3
10 charcot-marie-tooth disease, x-linked dominant, 6 10.2 PRPS2 PRPS1
11 hereditary hearing loss and deafness 10.1 PRPS1 POU3F4
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
13 peripheral nervous system disease 10.1
14 neuropathy 10.1
15 brown-vialetto-van laere syndrome 10.1 PRPS1L1 PRPS1
16 deafness, x-linked 3 10.1 PRPS1L1 PRPS1 POU3F4
17 deafness, x-linked 6 10.1 PRPS1L1 PRPS1 POU3F4
18 deafness, x-linked 4 10.1 PRPS1L1 PRPS1 POU3F4
19 deafness, x-linked 5, with peripheral neuropathy 10.0 PRPS1L1 PRPS1 POU3F4
20 deafness, x-linked 2 10.0 PRPS1L1 PRPS1 POU3F4
21 opitz-kaveggia syndrome 10.0 PRPS1L1 PRPS1
22 3-methylglutaconic aciduria, type iii 10.0
23 branchiootic syndrome 1 10.0
24 sensorineural hearing loss 10.0
25 optic nerve disease 10.0
26 pyrimidine metabolic disorder 10.0 UMPS ADSL
27 adenine phosphoribosyltransferase deficiency 9.9 UMPS ADSL
28 charcot-marie-tooth disease, x-linked recessive, 2 9.9 PRPS1 GJB1
29 charcot-marie-tooth disease x-linked recessive 4 9.9 PRPS1 GJB1
30 retinitis pigmentosa 9.9
31 neuroretinitis 9.9
32 tooth disease 9.9
33 polyneuropathy 9.9
34 retinitis 9.9
35 dfnx1 nonsyndromic hearing loss and deafness 9.9
36 orotic aciduria 9.9 UMPS ADSL
37 dystonia 16 9.8 ATIC ADSL
38 charcot-marie-tooth disease type x 9.7 PRPS2 PRPS1L1 PRPS1 GJB1
39 purine-pyrimidine metabolic disorder 9.6 PRPS1L1 PRPS1 ATIC ADSL
40 lesch-nyhan syndrome 9.6 PRPS1L1 PRPS1 ATIC ADSL
41 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.5 PRPS1L1 PRPS1 GJB1
42 x-linked nonsyndromic deafness 9.4 PRPSAP2 PRPSAP1 PRPS2 PRPS1L1 PRPS1 POU3F4
43 deafness, x-linked 1 9.2 PRPSAP2 PRPSAP1 PRPS2 PRPS1L1 PRPS1 POU3F4

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 5:



Diseases related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

Human phenotypes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 5:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
2 hearing impairment 58 31 very rare (1%) Very frequent (99-80%) HP:0000365
3 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
4 areflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001284
5 sensory neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000763
6 pes cavus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001761
7 skeletal muscle hypertrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003712
8 abnormal nerve conduction velocity 58 31 hallmark (90%) Very frequent (99-80%) HP:0040129
9 impaired pain sensation 58 31 frequent (33%) Frequent (79-30%) HP:0007328
10 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
11 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
12 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
13 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
14 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
15 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
16 excessive daytime somnolence 58 31 occasional (7.5%) Occasional (29-5%) HP:0001262
17 paraparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002385
18 language impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002463
19 rod-cone dystrophy 31 occasional (7.5%) HP:0000510
20 progressive visual loss 31 very rare (1%) HP:0000529
21 distal sensory impairment 31 very rare (1%) HP:0002936
22 decreased phosphoribosylpyrophosphate synthetase level 31 very rare (1%) HP:0032460
23 sensorineural hearing impairment 31 HP:0000407
24 motor delay 31 HP:0001270
25 peripheral neuropathy 58 Very frequent (99-80%)
26 polyneuropathy 31 HP:0001271
27 distal muscle weakness 31 HP:0002460
28 distal amyotrophy 31 HP:0003693
29 areflexia of lower limbs 31 HP:0002522
30 segmental peripheral demyelination/remyelination 31 HP:0003481
31 onion bulb formation 31 HP:0003383

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Feet:
pes cavus

Head And Neck Eyes:
retinitis pigmentosa (in some patients)
vision impairment, progressive (onset in late childhood or teens in some patients)
optic nerve atrophy (in some patients)

Neurologic Peripheral Nervous System:
distal sensory impairment
delayed motor development
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
areflexia of the lower limbs
more
Head And Neck Ears:
hearing loss, sensorineural, prelingual

Clinical features from OMIM®:

311070 (Updated 05-Apr-2021)

UMLS symptoms related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 5:


gait ataxia

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

Genetic Tests for Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

Genetic tests related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 5:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5 29 PRPS1

Anatomical Context for Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 5:

40
Eye, Skeletal Muscle

Publications for Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

Articles related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 5:

(show all 19)
# Title Authors PMID Year
1
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy. 61 6 57
25491489 2014
2
Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy. 61 57 6
24285972 2013
3
Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). 61 57 6
17701900 2007
4
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy. 6 57
25182139 2015
5
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation. 57 61
24528855 2014
6
A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24. 61 57
15955956 2005
7
Sensorineural deafness and peripheral neuropathy. 57
6094052 1984
8
Familial opticoacoustic nerve degeneration and polyneuropathy. 57
6069085 1967
9
Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene. 61
33294372 2020
10
A novel mutation in PRPS1 causes X-linked Charcot-Marie-Tooth disease-5. 61
31434166 2019
11
New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient. 61
31338985 2019
12
X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness. 61
30177296 2019
13
A profound computational study to prioritize the disease-causing mutations in PRPS1 gene. 61
29047041 2018
14
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders. 61
24961627 2015
15
Association of PRPS1 Mutations with Disease Phenotypes. 61
26089585 2015
16
Genetic and phenotypic variability of optic neuropathies. 61
23545052 2013
17
Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy. 61
23190330 2013
18
PRPS1 mutations: four distinct syndromes and potential treatment. 61
20380929 2010
19
Charcot-Marie-Tooth Neuropathy X Type 5 61
20301731 2008

Variations for Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, X-Linked Recessive, 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRPS1 NM_002764.3(PRPS1):c.129A>C (p.Glu43Asp) SNV Pathogenic 9934 rs80338731 GRCh37: X:106882531-106882531
GRCh38: X:107639301-107639301
2 PRPS1 NM_002764.3(PRPS1):c.344T>C (p.Met115Thr) SNV Pathogenic 9935 rs80338732 GRCh37: X:106884169-106884169
GRCh38: X:107640939-107640939
3 PRPS1 NM_001204402.1(PRPS1):c.-82-4220C>G SNV Pathogenic 100767 rs587777150 GRCh37: X:106884187-106884187
GRCh38: X:107640957-107640957
4 PRPS1 NM_001204402.1(PRPS1):c.-159T>C SNV Pathogenic 223101 rs869025594 GRCh37: X:106871904-106871904
GRCh38: X:107628674-107628674
5 PRPS1 NM_002764.3(PRPS1):c.343A>G (p.Met115Val) SNV Pathogenic 140572 rs587781262 GRCh37: X:106884168-106884168
GRCh38: X:107640938-107640938
6 PRPS1 NM_002764.3(PRPS1):c.925G>T (p.Val309Phe) SNV Pathogenic 140573 rs587781263 GRCh37: X:106893230-106893230
GRCh38: X:107650000-107650000

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, X-Linked Recessive, 5:

72
# Symbol AA change Variation ID SNP ID
1 PRPS1 p.Glu43Asp VAR_036941 rs80338731
2 PRPS1 p.Met115Thr VAR_036942 rs80338732

Expression for Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, X-Linked Recessive, 5.

Pathways for Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

Pathways related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.78 UMPS PRPS2 PRPS1L1 PRPS1 ATIC ADSL
2
Show member pathways
11.76 PRPS2 PRPS1L1 PRPS1
3
Show member pathways
11.14 PRPS2 PRPS1L1 PRPS1
4 10.41 PRPS2 PRPS1 ADSL

GO Terms for Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

Cellular components related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.26 PRPSAP2 PRPS2 GJB1 ADSL
2 ribose phosphate diphosphokinase complex GO:0002189 9.02 PRPSAP2 PRPSAP1 PRPS2 PRPS1L1 PRPS1

Biological processes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 nucleobase-containing compound metabolic process GO:0006139 9.71 PRPSAP2 PRPSAP1 PRPS2 ATIC
2 nucleotide biosynthetic process GO:0009165 9.65 PRPSAP2 PRPSAP1 PRPS2 PRPS1L1 PRPS1
3 ribonucleoside monophosphate biosynthetic process GO:0009156 9.62 PRPS2 PRPS1L1 PRPS1 ADSL
4 5-phosphoribose 1-diphosphate biosynthetic process GO:0006015 9.55 PRPSAP2 PRPSAP1 PRPS2 PRPS1L1 PRPS1
5 cellular biosynthetic process GO:0044249 9.54 PRPS2 PRPS1L1 PRPS1
6 animal organ regeneration GO:0031100 9.51 PRPS2 ATIC
7 nucleoside metabolic process GO:0009116 9.5 UMPS PRPSAP2 PRPSAP1 PRPS2 PRPS1L1 PRPS1
8 purine ribonucleoside monophosphate biosynthetic process GO:0009168 9.49 ATIC ADSL
9 pyrimidine nucleotide biosynthetic process GO:0006221 9.48 UMPS PRPS1
10 'de novo' IMP biosynthetic process GO:0006189 9.46 ATIC ADSL
11 AMP biosynthetic process GO:0006167 9.43 PRPS2 ADSL
12 purine nucleotide biosynthetic process GO:0006164 9.17 PRPSAP2 PRPSAP1 PRPS2 PRPS1L1 PRPS1 ATIC

Molecular functions related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.7 UMPS PRPSAP2 PRPSAP1 PRPS2 PRPS1 DRG1
2 protein homodimerization activity GO:0042803 9.62 PRPS2 PRPS1L1 PRPS1 ATIC
3 magnesium ion binding GO:0000287 9.35 PRPSAP2 PRPSAP1 PRPS2 PRPS1L1 PRPS1
4 enzyme inhibitor activity GO:0004857 9.26 PRPSAP2 PRPSAP1
5 ribose phosphate diphosphokinase activity GO:0004749 9.02 PRPSAP2 PRPSAP1 PRPS2 PRPS1L1 PRPS1

Sources for Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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