CMTX5
MCID: CHR408
MIFTS: 40

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

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic 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 75 13 73
Cmtx5 57 12 53 59 75
Rosenberg-Chutorian Syndrome 57 12 53 75
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5 29 6 40
Optic Atrophy, Polyneuropathy, and Deafness 57 12 53
X-Linked Charcot-Marie-Tooth Disease Type 5 12 53 59
Charcot-Marie-Tooth Neuropathy X-Linked Recessive 5 12 75
Charcot-Marie-Tooth Disease X-Linked Recessive 5 12 15
Cmt5x 12 59
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive 53
Optic Atrophy, Neural Deafness, and Distal Neurogenic Amyotrophy 53
Familial Opticoacoustic Nerve Degeneration and Polyneuropathy 53
Optic Atrophy, Sensorineural Hearing Loss and Polyneuropathy 53
Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5 57
Optic Atrophy with Polyneuropathy and Deafness 75
Charcot-Marie-Tooth Neuropathy X Type 5 53
Optic Atrophy Polyneuropathy Deafness 53
Rosenbergchutorian Syndrome 76

Characteristics:

Orphanet epidemiological data:

59
x-linked charcot-marie-tooth disease type 5
Inheritance: X-linked recessive;

OMIM:

57
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:

32
charcot-marie-tooth disease, x-linked recessive, 5:
Onset and clinical course variable expressivity childhood onset
Inheritance x-linked recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 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 cmtx5, is related to x-linked charcot-marie-tooth disease and tooth disease, 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 Carbon metabolism and Pentose phosphate pathway. Affiliated tissues include eye and skeletal muscle, and related phenotypes are ataxia and dysarthria

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)

Wikipedia : 76 Charcot�??Marie�??Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies, a group... more...

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

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
2 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
3 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
4 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
5 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
6 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
7 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
8 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
9 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
10 sensory neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000763
11 pes cavus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001761
12 impaired pain sensation 59 32 frequent (33%) Frequent (79-30%) HP:0007328
13 areflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001284
14 skeletal muscle hypertrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003712
15 language impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002463
16 excessive daytime somnolence 59 32 occasional (7.5%) Occasional (29-5%) HP:0001262
17 paraparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002385
18 abnormal nerve conduction velocity 59 32 hallmark (90%) Very frequent (99-80%) HP:0040129
19 sensorineural hearing impairment 32 HP:0000407
20 peripheral neuropathy 59 Very frequent (99-80%)
21 progressive visual loss 32 HP:0000529
22 areflexia of lower limbs 32 HP:0002522
23 motor delay 32 HP:0001270
24 rod-cone dystrophy 32 occasional (7.5%) HP:0000510
25 polyneuropathy 32 HP:0001271
26 distal muscle weakness 32 HP:0002460
27 distal amyotrophy 32 HP:0003693
28 segmental peripheral demyelination/remyelination 32 HP:0003481
29 distal sensory impairment 32 HP:0002936
30 onion bulb formation 32 HP:0003383

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:

41
Eye, Skeletal Muscle

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

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

# Title Authors Year
1
Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy. ( 24285972 )
2013
2
Optic atrophy, sensorineural hearing loss and polyneuropathy--a case of sporadic Rosenberg-Chutorian syndrome. ( 1292972 )
1992

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

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

75
# Symbol AA change Variation ID SNP ID
1 PRPS1 p.Glu43Asp VAR_036941 rs80338731
2 PRPS1 p.Met115Thr VAR_036942 rs80338732

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

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRPS1 NM_002764.3(PRPS1): c.129A> C (p.Glu43Asp) single nucleotide variant Pathogenic rs80338731 GRCh37 Chromosome X, 106882531: 106882531
2 PRPS1 NM_002764.3(PRPS1): c.129A> C (p.Glu43Asp) single nucleotide variant Pathogenic rs80338731 GRCh38 Chromosome X, 107639301: 107639301
3 PRPS1 NM_002764.3(PRPS1): c.344T> C (p.Met115Thr) single nucleotide variant Likely pathogenic rs80338732 GRCh37 Chromosome X, 106884169: 106884169
4 PRPS1 NM_002764.3(PRPS1): c.344T> C (p.Met115Thr) single nucleotide variant Likely pathogenic rs80338732 GRCh38 Chromosome X, 107640939: 107640939
5 PRPS1 NM_002764.3(PRPS1): c.362C> G (p.Ala121Gly) single nucleotide variant Pathogenic rs587777150 GRCh37 Chromosome X, 106884187: 106884187
6 PRPS1 NM_002764.3(PRPS1): c.362C> G (p.Ala121Gly) single nucleotide variant Pathogenic rs587777150 GRCh38 Chromosome X, 107640957: 107640957
7 PRPS1 NM_002764.3(PRPS1): c.343A> G (p.Met115Val) single nucleotide variant Pathogenic rs587781262 GRCh37 Chromosome X, 106884168: 106884168
8 PRPS1 NM_002764.3(PRPS1): c.343A> G (p.Met115Val) single nucleotide variant Pathogenic rs587781262 GRCh38 Chromosome X, 107640938: 107640938
9 PRPS1 NM_002764.3(PRPS1): c.925G> T (p.Val309Phe) single nucleotide variant Pathogenic rs587781263 GRCh37 Chromosome X, 106893230: 106893230
10 PRPS1 NM_002764.3(PRPS1): c.925G> T (p.Val309Phe) single nucleotide variant Pathogenic rs587781263 GRCh38 Chromosome X, 107650000: 107650000
11 PRPS1 NM_002764.3(PRPS1): c.46T> C (p.Ser16Pro) single nucleotide variant Pathogenic rs869025594 GRCh37 Chromosome X, 106871904: 106871904
12 PRPS1 NM_002764.3(PRPS1): c.46T> C (p.Ser16Pro) single nucleotide variant Pathogenic rs869025594 GRCh38 Chromosome X, 107628674: 107628674

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

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 ribose phosphate diphosphokinase complex GO:0002189 8.62 PRPS1 PRPS1L1

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

# Name GO ID Score Top Affiliating Genes
1 nucleoside metabolic process GO:0009116 9.37 PRPS1 PRPS1L1
2 purine nucleotide biosynthetic process GO:0006164 9.32 PRPS1 PRPS1L1
3 nucleotide biosynthetic process GO:0009165 9.26 PRPS1 PRPS1L1
4 ribonucleoside monophosphate biosynthetic process GO:0009156 9.16 PRPS1 PRPS1L1
5 5-phosphoribose 1-diphosphate biosynthetic process GO:0006015 8.96 PRPS1 PRPS1L1
6 cellular biosynthetic process GO:0044249 8.62 PRPS1 PRPS1L1

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 magnesium ion binding GO:0000287 9.16 PRPS1 PRPS1L1
2 protein homodimerization activity GO:0042803 9.13 GJB1 PRPS1 PRPS1L1
3 ribose phosphate diphosphokinase activity GO:0004749 8.62 PRPS1 PRPS1L1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....