CMTRID
MCID: CHR514
MIFTS: 29

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

Categories: Ear diseases, Eye diseases, Genetic diseases, Metabolic diseases, Muscle 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 57 72 29 6 39 70
Cmtrid 57 12 72
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type D 12 58
Charcot-Marie-Tooth Disease Recessive Intermediate D 12 15
Ri-Cmt Type D 12 58
Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, D 72

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive intermediate charcot-marie-tooth disease type d
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
charcot-marie-tooth disease, recessive intermediate d:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0110203
OMIM® 57 616039
OMIM Phenotypic Series 57 PS118220
MeSH 44 D002607
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
Orphanet 58 ORPHA435998
UMLS 70 C4015029

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

UniProtKB/Swiss-Prot : 72 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 neuropathy, hereditary sensory, type iic and spastic paraplegia 63, autosomal recessive. An important gene associated with Charcot-Marie-Tooth Disease, Recessive Intermediate D is COX6A1 (Cytochrome C Oxidase Subunit 6A1). Affiliated tissues include eye, and related phenotypes are areflexia and pes cavus

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

More information from OMIM: 616039 PS118220

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

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate D
Charcot-Marie-Tooth Disease, Dominant Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate a
Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Recessive Intermediate B Charcot-Marie-Tooth Disease, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease, Dominant Intermediate G
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 2a2a Charcot-Marie-Tooth Disease Type 2a2b
Charcot-Marie-Tooth Disease Type 1g Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2l Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Dnajb2-Related Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

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

(show all 21)
# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory, type iic 10.0 SPG21 MTRFR
2 spastic paraplegia 63, autosomal recessive 10.0 SPG21 MTRFR
3 charcot-marie-tooth disease, axonal, type 2b1 9.9 SPG21 LRSAM1
4 spastic paraplegia 49, autosomal recessive 9.9 SPG21 CYP2U1
5 spastic paraplegia 54, autosomal recessive 9.9 SPG21 CYP2U1
6 spastic paraplegia 46, autosomal recessive 9.8 SPG21 CYP2U1
7 spastic paraplegia 48, autosomal recessive 9.8 SPG21 CYP2U1
8 masa syndrome 9.8 SPG21 MTRFR
9 spastic paraplegia 56, autosomal recessive 9.8 SPG21 CYP2U1
10 charcot-marie-tooth disease intermediate type 9.7 LRSAM1 DNAJB2
11 paraplegia 9.7 SPG21 MTRFR CYP2U1
12 charcot-marie-tooth disease 9.6 LRSAM1 DNAJB2 COX6A1
13 hereditary spastic paraplegia 9.3 SPG21 MTRFR CYP2U1
14 charcot-marie-tooth disease type 2a2a 8.7 SPG21 MTRFR LRSAM1 DNAJB2 CYP2U1 COX6A1
15 charcot-marie-tooth disease, axonal, type 2t 8.7 SPG21 MTRFR LRSAM1 DNAJB2 CYP2U1 COX6A1
16 charcot-marie-tooth disease, axonal, type 2r 8.7 SPG21 MTRFR LRSAM1 DNAJB2 CYP2U1 COX6A1
17 spastic paraplegia 55, autosomal recessive 8.7 SPG21 MTRFR LRSAM1 DNAJB2 CYP2U1 COX6A1
18 charcot-marie-tooth disease, axonal, type 2p 8.7 SPG21 MTRFR LRSAM1 DNAJB2 CYP2U1 COX6A1
19 charcot-marie-tooth disease, axonal, type 2h 8.7 SPG21 MTRFR LRSAM1 DNAJB2 CYP2U1 COX6A1
20 charcot-marie-tooth disease, axonal, type 2b2 8.7 SPG21 MTRFR LRSAM1 DNAJB2 CYP2U1 COX6A1
21 charcot-marie-tooth disease, axonal, type 2e 8.7 SPG21 MTRFR LRSAM1 DNAJB2 CYP2U1 COX6A1

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:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 areflexia 31 HP:0001284
2 pes cavus 31 HP:0001761
3 hyporeflexia 31 HP:0001265
4 steppage gait 31 HP:0003376
5 distal sensory impairment 31 HP:0002936
6 foot dorsiflexor weakness 31 HP:0009027
7 onion bulb formation 31 HP:0003383

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
steppage gait
distal sensory impairment
onion bulb formation
more
Skeletal Hands:
finger contractures

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

Skeletal Feet:
pes cavus
clawed toes

Head And Neck Ears:
hearing loss, adult-onset (1 patient)

Clinical features from OMIM®:

616039 (Updated 20-May-2021)

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 29 COX6A1

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

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Recessive Intermediate D:

40
Eye

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

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

# Title Authors PMID Year
1
COX6A1 mutation causes axonal hereditary motor and sensory neuropathy - the confirmation of the primary report. 6 57
26302975 2016
2
A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease. 6 57
25152455 2014
3
Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review. 57
28364294 2017
4
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 61
26556829 2016

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COX6A1 NM_004373.4(COX6A1):c.247-7_247-3del Deletion Pathogenic 156370 rs587777783 GRCh37: 12:120878247-120878251
GRCh38: 12:120440444-120440448
2 COX6A1 NM_004373.4(COX6A1):c.26_33del (p.Val9fs) Deletion Pathogenic 1034081 GRCh37: 12:120875950-120875957
GRCh38: 12:120438147-120438154
3 COX6A1 NM_004373.4(COX6A1):c.103+1G>C SNV Pathogenic 560368 rs377504835 GRCh37: 12:120876033-120876033
GRCh38: 12:120438230-120438230

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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