CMTX5
MCID: CHR408
MIFTS: 39

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 58 76 13 74
Rosenberg-Chutorian Syndrome 58 12 77 54 76
Cmtx5 58 12 54 60 76
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5 30 6 41
Optic Atrophy, Polyneuropathy, and Deafness 58 12 54
X-Linked Charcot-Marie-Tooth Disease Type 5 12 54 60
Charcot-Marie-Tooth Neuropathy X-Linked Recessive 5 12 76
Charcot-Marie-Tooth Disease X-Linked Recessive 5 12 15
Cmt5x 12 60
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive 54
Optic Atrophy, Neural Deafness, and Distal Neurogenic Amyotrophy 54
Familial Opticoacoustic Nerve Degeneration and Polyneuropathy 54
Optic Atrophy, Sensorineural Hearing Loss and Polyneuropathy 54
Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5 58
Optic Atrophy with Polyneuropathy and Deafness 76
Charcot-Marie-Tooth Neuropathy X Type 5 54
Optic Atrophy Polyneuropathy Deafness 54

Characteristics:

Orphanet epidemiological data:

60
x-linked charcot-marie-tooth disease type 5
Inheritance: X-linked recessive;

OMIM:

58
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:

33
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 : 76 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 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 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 : 58 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 : 77 Charcot–Marie–Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies, a group of... 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

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

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001324
2 hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000365
3 optic atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000648
4 sensory neuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000763
5 pes cavus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001761
6 areflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001284
7 skeletal muscle hypertrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003712
8 abnormal nerve conduction velocity 60 33 hallmark (90%) Very frequent (99-80%) HP:0040129
9 impaired pain sensation 60 33 frequent (33%) Frequent (79-30%) HP:0007328
10 ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001251
11 dysarthria 60 33 occasional (7.5%) Occasional (29-5%) HP:0001260
12 gait disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0001288
13 tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0001337
14 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
15 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
16 language impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0002463
17 excessive daytime somnolence 60 33 occasional (7.5%) Occasional (29-5%) HP:0001262
18 paraparesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002385
19 rod-cone dystrophy 33 occasional (7.5%) HP:0000510
20 sensorineural hearing impairment 33 HP:0000407
21 peripheral neuropathy 60 Very frequent (99-80%)
22 progressive visual loss 33 HP:0000529
23 areflexia of lower limbs 33 HP:0002522
24 motor delay 33 HP:0001270
25 polyneuropathy 33 HP:0001271
26 distal muscle weakness 33 HP:0002460
27 distal amyotrophy 33 HP:0003693
28 segmental peripheral demyelination/remyelination 33 HP:0003481
29 distal sensory impairment 33 HP:0002936
30 onion bulb formation 33 HP:0003383

Symptoms via clinical synopsis from OMIM:

58
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

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 30 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:

42
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
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:

76
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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