CMTX4
MCID: CHR697
MIFTS: 21

Charcot-Marie-Tooth Disease X-Linked Recessive 4 (CMTX4)

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 4

MalaCards integrated aliases for Charcot-Marie-Tooth Disease X-Linked Recessive 4:

Name: Charcot-Marie-Tooth Disease X-Linked Recessive 4 12 15
Charcot-Marie-Tooth Disease with Deafness and Mental Retardation 12 52
X-Linked Charcot-Marie-Tooth Disease Type 4 12 52
Cowchock Syndrome 12 52
Namsd 12 52
Nadmr 12 52
Neuropathy, Axonal Motor-Sensory with Deafness and Mental Retardation 52
Axonal Motor Sensory Neuropathy with Deafness and Mental Retardation 12
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4 52
Cmtx 4 52
Cmtx4 12
Cmt4x 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110212
ICD10 32 G60.0

Summaries for Charcot-Marie-Tooth Disease X-Linked Recessive 4

Disease Ontology : 12 A Charcot-Marie-Tooth disease X-linked that has material basis in mutation in the AIFM1 gene on chromosome Xq26.

MalaCards based summary : Charcot-Marie-Tooth Disease X-Linked Recessive 4, also known as charcot-marie-tooth disease with deafness and mental retardation, is related to x-linked charcot-marie-tooth disease and sensory peripheral neuropathy. An important gene associated with Charcot-Marie-Tooth Disease X-Linked Recessive 4 is AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1). Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Charcot-Marie-Tooth Disease X-Linked Recessive 4

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 x-linked charcot-marie-tooth disease 32.6 PRPS1 GJB1
2 sensory peripheral neuropathy 30.6 PES1 MPZ GJB1
3 tooth disease 30.5 PRPS1 MPZ GJB1 AIFM1
4 neuropathy, congenital hypomyelinating, 1, autosomal recessive 30.3 PRPS1 PES1 MPZ GJB1
5 neuropathy 30.3 PRPS1 MPZ GJB1 AIFM1
6 charcot-marie-tooth disease 30.1 PRPS1 PES1 MPZ GJB1 AIFM1
7 charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxia 12.9
8 charcot-marie-tooth disease, dominant intermediate a 10.4 MPZ GJB1
9 autoimmune peripheral neuropathy 10.3 MPZ GJB1
10 charcot-marie-tooth disease, demyelinating, type 1d 10.3 MPZ GJB1
11 charcot-marie-tooth disease, axonal, type 2f 10.3 MPZ GJB1
12 charcot-marie-tooth disease intermediate type 10.3 MPZ GJB1
13 argyll robertson pupil 10.3 PES1 MPZ
14 charcot-marie-tooth disease, demyelinating, type 1f 10.3 MPZ GJB1
15 abnormal pupillary function 10.3 PES1 MPZ
16 charcot-marie-tooth disease, demyelinating, type 4f 10.3 MPZ GJB1
17 pupil disease 10.3 PES1 MPZ
18 hereditary neuropathies 10.3 MPZ GJB1
19 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.3 MPZ GJB1
20 charcot-marie-tooth disease, dominant intermediate b 10.3 MPZ GJB1
21 charcot-marie-tooth disease, x-linked dominant, 6 10.3 PRPS1 GJB1
22 charcot-marie-tooth disease, type 4a 10.3 MPZ GJB1
23 charcot-marie-tooth disease, axonal, type 2j 10.3 PES1 MPZ
24 hereditary motor and sensory neuropathy, type iic 10.3 MPZ GJB1
25 charcot-marie-tooth disease, x-linked recessive, 5 10.3 PRPS1 GJB1
26 charcot-marie-tooth disease, axonal, type 2d 10.3 MPZ GJB1
27 charcot-marie-tooth disease, type 4b2 10.3 MPZ GJB1
28 x-linked nonsyndromic deafness 10.3 PRPS1 AIFM1
29 charcot-marie-tooth disease, type 4d 10.2 MPZ GJB1
30 mononeuropathy 10.2 PES1 MPZ
31 charcot-marie-tooth disease, type 4c 10.2 MPZ GJB1
32 nerve compression syndrome 10.2 PES1 MPZ
33 charcot-marie-tooth disease, axonal, type 2b 10.2 MPZ GJB1
34 charcot-marie-tooth disease, demyelinating, type 1c 10.2 MPZ GJB1
35 branchiootic syndrome 1 10.1
36 axonal neuropathy 10.1
37 mitochondrial encephalomyopathy 10.1
38 charcot-marie-tooth neuropathy x type 1 10.1
39 charcot-marie-tooth neuropathy x type 5 10.1
40 charcot-marie-tooth disease type 2a2 10.1 PES1 MPZ GJB1
41 charcot-marie-tooth disease, axonal, type 2i 10.1 PES1 MPZ GJB1
42 waardenburg syndrome, type 4a 10.1 MPZ GJB1
43 charcot-marie-tooth disease, axonal, type 2cc 10.1 PES1 MPZ GJB1
44 charcot-marie-tooth disease, x-linked dominant, 1 10.1 PES1 MPZ GJB1
45 charcot-marie-tooth disease, demyelinating, type 1b 10.1 PES1 MPZ GJB1
46 charcot-marie-tooth disease, axonal, type 2q 10.1 PES1 MPZ GJB1
47 charcot-marie-tooth disease, demyelinating, type 1a 10.1 PES1 MPZ GJB1
48 neuropathy, hereditary, with liability to pressure palsies 10.1 PES1 MPZ GJB1
49 hypertrophic neuropathy of dejerine-sottas 10.1 PES1 MPZ GJB1
50 charcot-marie-tooth disease and deafness 10.1 PES1 MPZ GJB1

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease X-Linked Recessive 4:



Diseases related to Charcot-Marie-Tooth Disease X-Linked Recessive 4

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease X-Linked Recessive 4

GenomeRNAi Phenotypes related to Charcot-Marie-Tooth Disease X-Linked Recessive 4 according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.53 ZNF81
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.53 SMARCA1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 9.53 AIFM1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.53 SMARCA1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.53 SMARCA1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.53 SMARCA1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.53 SMARCA1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.53 SMARCA1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.53 AIFM1 SMARCA1 ZNF81
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.53 AIFM1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.53 SMARCA1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.53 ZNF81
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 9.53 SMARCA1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.53 AIFM1

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease X-Linked Recessive 4:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.28 AIFM1 CHCHD4 EN2 GEMIN4 GJB1 LONP1

Drugs & Therapeutics for Charcot-Marie-Tooth Disease X-Linked Recessive 4

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease X-Linked Recessive 4

Genetic Tests for Charcot-Marie-Tooth Disease X-Linked Recessive 4

Anatomical Context for Charcot-Marie-Tooth Disease X-Linked Recessive 4

Publications for Charcot-Marie-Tooth Disease X-Linked Recessive 4

Articles related to Charcot-Marie-Tooth Disease X-Linked Recessive 4:

# Title Authors PMID Year
1
A novel AIFM1 mutation in a Chinese family with X-linked Charcot-Marie-Tooth disease type 4. 61
30031633 2018
2
A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes. 61
28888069 2017

Variations for Charcot-Marie-Tooth Disease X-Linked Recessive 4

Expression for Charcot-Marie-Tooth Disease X-Linked Recessive 4

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease X-Linked Recessive 4.

Pathways for Charcot-Marie-Tooth Disease X-Linked Recessive 4

GO Terms for Charcot-Marie-Tooth Disease X-Linked Recessive 4

Sources for Charcot-Marie-Tooth Disease X-Linked Recessive 4

3 CDC
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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