CMTRID
MCID: CHR514
MIFTS: 27

Charcot-Marie-Tooth Disease, Recessive Intermediate D (CMTRID)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, Recessive Intermediate D

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Recessive Intermediate D:

Name: Charcot-Marie-Tooth Disease, Recessive Intermediate D 58 76 30 6 41 74
Cmtrid 58 12 76
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type D 12 60
Charcot-Marie-Tooth Disease Recessive Intermediate D 12 15
Ri-Cmt Type D 12 60
Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, D 76

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive intermediate charcot-marie-tooth disease type d
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in early childhood (4 to 5 years)


HPO:

33
charcot-marie-tooth disease, recessive intermediate d:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110203
OMIM 58 616039
MeSH 45 D002607
ICD10 34 G60.0
ICD10 via Orphanet 35 G60.0
Orphanet 60 ORPHA435998
UMLS 74 C4015029

Summaries for Charcot-Marie-Tooth Disease, Recessive Intermediate D

UniProtKB/Swiss-Prot : 76 Charcot-Marie-Tooth disease, recessive, intermediate type, D: 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. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.

MalaCards based summary : Charcot-Marie-Tooth Disease, Recessive Intermediate D, also known as cmtrid, is related to charcot-marie-tooth disease and spastic paraplegia 46, autosomal recessive. An important gene associated with Charcot-Marie-Tooth Disease, Recessive Intermediate D is COX6A1 (Cytochrome C Oxidase Subunit 6A1). Related phenotypes are pes cavus and areflexia

Disease Ontology : 12 A Charcot-Marie-Tooth disease intermediate type that has material basis in homozygous mutation in the COX6A1 gene on chromosome 12q24.

Description from OMIM: 616039

Related Diseases for Charcot-Marie-Tooth Disease, Recessive Intermediate D

Diseases in the Charcot-Marie-Tooth Disease, Dominant Intermediate D family:

Charcot-Marie-Tooth Disease, Dominant Intermediate E Charcot-Marie-Tooth Disease, Dominant Intermediate F
Charcot-Marie-Tooth Disease, Recessive Intermediate D Charcot-Marie-Tooth Disease, Dominant Intermediate G

Diseases related to Charcot-Marie-Tooth Disease, Recessive Intermediate D via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 9.7 COX6A1 DNAJB2 TRIM2
2 spastic paraplegia 46, autosomal recessive 9.5 COX6A1 SPG21
3 charcot-marie-tooth disease type 2a2 9.5 COX6A1 DNAJB2 TRIM2
4 charcot-marie-tooth disease intermediate type 9.1 COX6A1 DNAJB2 SPG21 TRIM2
5 charcot-marie-tooth disease, axonal, type 2b1 9.1 COX6A1 DNAJB2 SPG21 TRIM2
6 charcot-marie-tooth disease, axonal, type 2b2 9.1 COX6A1 DNAJB2 SPG21 TRIM2
7 charcot-marie-tooth disease, axonal, type 2h 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
8 charcot-marie-tooth disease, axonal, type 2p 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
9 spastic paraplegia 55, autosomal recessive 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
10 charcot-marie-tooth disease, axonal, type 2r 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
11 amyotrophic lateral sclerosis type 5 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
12 charcot-marie-tooth disease, axonal, type 2t 8.8 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
13 charcot-marie-tooth disease, axonal, type 2e 8.7 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Recessive Intermediate D:



Diseases related to Charcot-Marie-Tooth Disease, Recessive Intermediate D

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Recessive Intermediate D

Human phenotypes related to Charcot-Marie-Tooth Disease, Recessive Intermediate D:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 pes cavus 33 HP:0001761
2 areflexia 33 HP:0001284
3 hyporeflexia 33 HP:0001265
4 foot dorsiflexor weakness 33 HP:0009027
5 steppage gait 33 HP:0003376
6 distal sensory impairment 33 HP:0002936
7 onion bulb formation 33 HP:0003383

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
pes cavus
clawed toes

Skeletal Hands:
finger contractures

Muscle Soft Tissue:
distal muscle weakness and atrophy of upper and lower limbs due to peripheral neuropathy

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
steppage gait
distal sensory impairment
onion bulb formation
more
Head And Neck Ears:
hearing loss, adult-onset (1 patient)

Clinical features from OMIM:

616039

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Recessive Intermediate D

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Recessive Intermediate D

Genetic Tests for Charcot-Marie-Tooth Disease, Recessive Intermediate D

Genetic tests related to Charcot-Marie-Tooth Disease, Recessive Intermediate D:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Recessive Intermediate D 30 COX6A1

Anatomical Context for Charcot-Marie-Tooth Disease, Recessive Intermediate D

Publications for Charcot-Marie-Tooth Disease, Recessive Intermediate D

Articles related to Charcot-Marie-Tooth Disease, Recessive Intermediate D:

# Title Authors Year
1
COX6A1 mutation causes axonal hereditary motor and sensory neuropathy - the confirmation of the primary report. ( 26302975 )
2016
2
A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease. ( 25152455 )
2014

Variations for Charcot-Marie-Tooth Disease, Recessive Intermediate D

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Recessive Intermediate D:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COX6A1 NM_004373.3(COX6A1): c.247-10_247-6delCACTC deletion Pathogenic rs587777783 GRCh38 Chromosome 12, 120440444: 120440448
2 COX6A1 NM_004373.3(COX6A1): c.247-10_247-6delCACTC deletion Pathogenic rs587777783 GRCh37 Chromosome 12, 120878247: 120878251

Expression for Charcot-Marie-Tooth Disease, Recessive Intermediate D

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Recessive Intermediate D.

Pathways for Charcot-Marie-Tooth Disease, Recessive Intermediate D

GO Terms for Charcot-Marie-Tooth Disease, Recessive Intermediate D

Sources for Charcot-Marie-Tooth Disease, Recessive Intermediate D

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
37 IUPHAR
38 KEGG
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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