CMTX4
MCID: CHR697
MIFTS: 22

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 tooth disease. An important gene associated with Charcot-Marie-Tooth Disease X-Linked Recessive 4 is AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1). Related phenotype is mortality/aging.

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 71)
# Related Disease Score Top Affiliating Genes
1 x-linked charcot-marie-tooth disease 32.6 PRPS1 GJB1
2 tooth disease 30.5 PRPS1 MPZ GJB1 AIFM1
3 sensory peripheral neuropathy 30.5 PES1 MPZ GJB1
4 neuropathy 30.4 PRPS1 MPZ GJB1 AIFM1
5 neuropathy, congenital hypomyelinating, 1, autosomal recessive 30.3 PRPS1 PES1 MPZ GJB1
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 13.1
8 charcot-marie-tooth disease, dominant intermediate a 10.4 MPZ GJB1
9 deafness, x-linked 3 10.4 PRPS1 AIFM1
10 charcot-marie-tooth disease, axonal, type 2w 10.4 MPZ GJB1
11 autoimmune peripheral neuropathy 10.4 MPZ GJB1
12 deafness, x-linked 6 10.4 PRPS1 AIFM1
13 deafness, x-linked 4 10.3 PRPS1 AIFM1
14 charcot-marie-tooth disease, axonal, type 2i 10.3 MPZ GJB1
15 deafness, x-linked 1 10.3 PRPS1 AIFM1
16 charcot-marie-tooth disease, demyelinating, type 1d 10.3 MPZ GJB1
17 charcot-marie-tooth disease intermediate type 10.3 MPZ GJB1
18 charcot-marie-tooth disease, x-linked dominant, 6 10.3 PRPS1 GJB1
19 hereditary neuropathies 10.3 MPZ GJB1
20 charcot-marie-tooth disease, dominant intermediate c 10.3 MPZ GJB1
21 charcot-marie-tooth disease, demyelinating, type 1f 10.3 MPZ GJB1
22 charcot-marie-tooth disease, x-linked recessive, 5 10.3 PRPS1 GJB1
23 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.3 MPZ GJB1
24 charcot-marie-tooth disease, dominant intermediate b 10.3 MPZ GJB1
25 hereditary motor and sensory neuropathy, type iic 10.3 MPZ GJB1
26 charcot-marie-tooth disease, axonal, type 2f 10.3 MPZ GJB1
27 auditory neuropathy spectrum disorder 10.3 PJVK AIFM1
28 charcot-marie-tooth disease, type 4a 10.3 MPZ GJB1
29 charcot-marie-tooth disease, axonal, type 2d 10.3 MPZ GJB1
30 charcot-marie-tooth disease, type 4d 10.3 MPZ GJB1
31 argyll robertson pupil 10.3 PES1 MPZ
32 pupil disease 10.3 PES1 MPZ
33 abnormal pupillary function 10.3 PES1 MPZ
34 charcot-marie-tooth disease, type 4b3 10.3 PRPS1 MPZ
35 spinal muscular atrophy, distal, x-linked 3 10.3 PES1 GJB1
36 charcot-marie-tooth disease, type 4b2 10.3 MPZ GJB1
37 charcot-marie-tooth disease, axonal, type 2b 10.3 MPZ GJB1
38 charcot-marie-tooth disease, type 4c 10.2 MPZ GJB1
39 x-linked nonsyndromic deafness 10.2 PRPS1 AIFM1
40 charcot-marie-tooth disease, demyelinating, type 1c 10.2 MPZ GJB1
41 hereditary hearing loss and deafness 10.2 SF3B4 PRPS1
42 combined oxidative phosphorylation deficiency 6 10.2 LONP1 AIFM1
43 mononeuropathy 10.2 PES1 MPZ
44 waardenburg syndrome, type 4a 10.2 MPZ GJB1
45 nerve compression syndrome 10.2 PES1 MPZ
46 branchiootic syndrome 1 10.2
47 axonal neuropathy 10.2
48 mitochondrial encephalomyopathy 10.2
49 charcot-marie-tooth neuropathy x type 5 10.2
50 deafness, x-linked 2 10.1 PRPS1 AIFM1

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

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 9.32 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

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex assembly GO:0033108 8.96 CHCHD4 AIFM1
2 protein import into mitochondrial intermembrane space GO:0045041 8.62 CHCHD4 AIFM1

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

# Name GO ID Score Top Affiliating Genes
1 ribonucleoprotein complex binding GO:0043021 8.62 PES1 GEMIN4

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....