Charcot-Marie-Tooth Disease X-Linked Recessive 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Ear diseases Mental diseases Eye diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the nervous system

Polyneuropathies and other disorders of the peripheral nervous system

Hereditary and idiopathic neuropathy

Hereditary motor and sensory neuropathy

External Ids:

Disease Ontology ¹² DOID:0110212

ICD10 ³² G60.0

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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.

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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:

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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

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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

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

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

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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	Wang B...Zhang R	30031633	2018
2	A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes. ⁶¹	Hu B...Li J	28888069	2017

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

Genes related to Charcot-Marie-Tooth Disease X-Linked Recessive 4 (0 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	AIFM1	Apoptosis Inducing Factor Mitochondria Associated 1	Protein Coding	26.19	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
2	CHCHD4	Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 4	Protein Coding	6.57	DISEASES inferred ¹⁵
3	GJB1	Gap Junction Protein Beta 1	Protein Coding	5.99	DISEASES inferred ¹⁵
4	BRAT1	BRCA1 Associated ATM Activator 1	Protein Coding	5.82	DISEASES inferred ¹⁵
5	SF3B4	Splicing Factor 3b Subunit 4	Protein Coding	5.58	DISEASES inferred ¹⁵
6	MPZ	Myelin Protein Zero	Protein Coding	5.52	DISEASES inferred ¹⁵
7	PRPS1	Phosphoribosyl Pyrophosphate Synthetase 1	Protein Coding	5.5	DISEASES inferred ¹⁵
8	GEMIN4	Gem Nuclear Organelle Associated Protein 4	Protein Coding	5.41	DISEASES inferred ¹⁵
9	PES1	Pescadillo Ribosomal Biogenesis Factor 1	Protein Coding	5.35	DISEASES inferred ¹⁵
10	PJVK	Pejvakin	Protein Coding	5.22	DISEASES inferred ¹⁵
11	ZNF41	Zinc Finger Protein 41	Protein Coding	5.05	DISEASES inferred ¹⁵
12	EN2	Engrailed Homeobox 2	Protein Coding	5.04	DISEASES inferred ¹⁵
13	ZNF81	Zinc Finger Protein 81	Protein Coding	5	DISEASES inferred ¹⁵
14	LONP1	Lon Peptidase 1, Mitochondrial	Protein Coding	5	DISEASES inferred ¹⁵

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

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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.

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

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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

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

Aliases & Classifications for Charcot-Marie-Tooth Disease X-Linked Recessive 4

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

Classifications:

External Ids:

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

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

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

Diseases related to Charcot-Marie-Tooth Disease X-Linked Recessive 4 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 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:

Drugs & Therapeutics 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:

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

Genes related to Charcot-Marie-Tooth Disease X-Linked Recessive 4 (0 elite genes):

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

Expression 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:

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

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