CMT2H
MCID: CHR545
MIFTS: 27

Charcot-Marie-Tooth Disease, Axonal, Type 2h (CMT2H)

Categories: Ear diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, Axonal, Type 2h

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Axonal, Type 2h:

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2h 57 20
Cmt2h 57 12 20 58
Axonal Charcot-Marie-Tooth Disease with Pyramidal Involvement 12 20 58
Charcot-Marie-Tooth Disease Axonal Type 2h 12 29 15
Charcot-Marie-Tooth Disease Type 2h 12 20 58
Autosomal Recessive Axonal Cmt4c2 12 20 58
Charcot-Marie-Tooth Disease, Axonal, with Pyramidal Features, Autosomal Recessive 57 20
Ar-Cmt2c 12 58
Charcot-Marie-Tooth Neuropathy, Axonal, with Pyramidal Features, Autosomal Recessive 57
Autosomal Recessive Axonal Charcot-Marie-Tooth Neuropathy with Pyramidal Features 12
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease with Pyramidal Features 12
Charcot-Marie-Tooth Disease, Type 2h 70
Charcot Marie Tooth Disease Type 2h 20
Cmt 2h 20

Characteristics:

Orphanet epidemiological data:

58
charcot-marie-tooth disease type 2h
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

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

Miscellaneous:
onset in first decade


HPO:

31
charcot-marie-tooth disease, axonal, type 2h:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110166
OMIM® 57 607731
OMIM Phenotypic Series 57 PS118220
ICD10 32 G60.0
MESH via Orphanet 45 C535415
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 71 C1843173
Orphanet 58 ORPHA101102
MedGen 41 C1843173
UMLS 70 C1843173

Summaries for Charcot-Marie-Tooth Disease, Axonal, Type 2h

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in variation in the region 8q13-q23.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2h, also known as cmt2h, is related to tooth disease and charcot-marie-tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2h is CMT2H (Charcot-Marie-Tooth Disease, Axonal, Type 2H). Related phenotypes are pes cavus and steppage gait

More information from OMIM: 607731 PS118220

Related Diseases for Charcot-Marie-Tooth Disease, Axonal, Type 2h

Diseases in the Charcot-Marie-Tooth Disease, Axonal, Type 2e family:

Charcot-Marie-Tooth Disease, Axonal, Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Type 2b
Charcot-Marie-Tooth Disease, Axonal, Type 2d Charcot-Marie-Tooth Disease, Axonal, Type 2b1
Charcot-Marie-Tooth Disease, Axonal, Type 2b2 Charcot-Marie-Tooth Disease, Axonal, Type 2f
Charcot-Marie-Tooth Disease, Axonal, Type 2i Charcot-Marie-Tooth Disease, Axonal, Type 2h
Charcot-Marie-Tooth Disease, Axonal, Type 2j Charcot-Marie-Tooth Disease, Axonal, Type 2k
Charcot-Marie-Tooth Disease, Axonal, Type 2l Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a
Charcot-Marie-Tooth Disease, Axonal, Type 2n Charcot-Marie-Tooth Disease, Axonal, Type 2o
Charcot-Marie-Tooth Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2q
Charcot-Marie-Tooth Disease, Axonal, Type 2r Charcot-Marie-Tooth Disease, Axonal, Type 2u
Charcot-Marie-Tooth Disease, Axonal, Type 2v Charcot-Marie-Tooth Disease, Axonal, Type 2w
Charcot-Marie-Tooth Disease, Axonal, Type 2x Charcot-Marie-Tooth Disease, Axonal, Type 2z
Charcot-Marie-Tooth Disease, Axonal, Type 2cc Charcot-Marie-Tooth Disease, Axonal, Type 2t
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b Charcot-Marie-Tooth Disease, Axonal, Type 2dd
Charcot-Marie-Tooth Disease, Axonal, Type 2ee Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect

Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2h via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 tooth disease 30.8 LRSAM1 GDAP1 COX6A1 CMT2H
2 charcot-marie-tooth disease 30.3 LRSAM1 GDAP1 DNAJB2 COX6A1 CMT2H
3 axonal neuropathy 30.0 MTRFR GDAP1
4 hereditary motor and sensory neuropathy, type iic 10.1
5 charcot-marie-tooth disease, recessive intermediate a 10.1
6 neuropathy, hereditary sensory, type iic 10.1 SPG21 MTRFR
7 spastic paraplegia 63, autosomal recessive 10.1 SPG21 MTRFR
8 spastic paraplegia 49, autosomal recessive 10.0 SPG21 CYP2U1
9 spastic paraplegia 54, autosomal recessive 10.0 SPG21 CYP2U1
10 spastic paraplegia 46, autosomal recessive 10.0 SPG21 CYP2U1
11 masa syndrome 10.0 SPG21 MTRFR
12 spastic paraplegia 48, autosomal recessive 10.0 SPG21 CYP2U1
13 spastic paraplegia 56, autosomal recessive 10.0 SPG21 CYP2U1
14 charcot-marie-tooth disease, axonal, type 2k 10.0 GDAP1 DNAJB2
15 neuronopathy, distal hereditary motor, type va 9.9 GDAP1 DNAJB2
16 charcot-marie-tooth disease, axonal, type 2a1 9.9 LRSAM1 GDAP1
17 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive 9.8 LRSAM1 GDAP1
18 paraplegia 9.8 SPG21 MTRFR CYP2U1
19 charcot-marie-tooth disease, demyelinating, type 1c 9.8 LRSAM1 GDAP1
20 optic nerve disease 9.8 MTRFR GDAP1
21 charcot-marie-tooth disease, axonal, type 2b1 9.7 SPG21 LRSAM1 GDAP1
22 charcot-marie-tooth disease and deafness 9.7 LRSAM1 GDAP1
23 hereditary spastic paraplegia 9.6 SPG21 MTRFR CYP2U1
24 charcot-marie-tooth disease intermediate type 9.6 LRSAM1 GDAP1 DNAJB2
25 charcot-marie-tooth disease type 2a2a 8.8 SPG21 MTRFR LRSAM1 DNAJB2 CYP2U1 COX6A1
26 charcot-marie-tooth disease, recessive intermediate d 8.8 SPG21 MTRFR LRSAM1 DNAJB2 CYP2U1 COX6A1
27 charcot-marie-tooth disease, axonal, type 2t 8.5 SPG21 MTRFR LRSAM1 GDAP1 DNAJB2 CYP2U1
28 charcot-marie-tooth disease, axonal, type 2r 8.5 SPG21 MTRFR LRSAM1 GDAP1 DNAJB2 CYP2U1
29 spastic paraplegia 55, autosomal recessive 8.5 SPG21 MTRFR LRSAM1 GDAP1 DNAJB2 CYP2U1
30 charcot-marie-tooth disease, axonal, type 2p 8.5 SPG21 MTRFR LRSAM1 GDAP1 DNAJB2 CYP2U1
31 charcot-marie-tooth disease, axonal, type 2b2 8.5 SPG21 MTRFR LRSAM1 GDAP1 DNAJB2 CYP2U1
32 charcot-marie-tooth disease, axonal, type 2e 8.5 SPG21 MTRFR LRSAM1 GDAP1 DNAJB2 CYP2U1

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2h:



Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2h

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Axonal, Type 2h

Human phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2h:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 pes cavus 31 HP:0001761
2 steppage gait 31 HP:0003376
3 distal muscle weakness 31 HP:0002460
4 distal sensory impairment 31 HP:0002936
5 distal amyotrophy 31 HP:0003693
6 foot dorsiflexor weakness 31 HP:0009027
7 absent achilles reflex 31 HP:0003438
8 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
9 hyperactive patellar reflex 31 HP:0007083
10 hyperreflexia in upper limbs 31 HP:0007350
11 axonal regeneration 31 HP:0003450

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
distal sensory impairment
hyperreflexia in upper limbs
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
'steppage' gait
more

Clinical features from OMIM®:

607731 (Updated 20-May-2021)

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Axonal, Type 2h

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Axonal, Type 2h

Genetic Tests for Charcot-Marie-Tooth Disease, Axonal, Type 2h

Genetic tests related to Charcot-Marie-Tooth Disease, Axonal, Type 2h:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease Axonal Type 2h 29

Anatomical Context for Charcot-Marie-Tooth Disease, Axonal, Type 2h

Publications for Charcot-Marie-Tooth Disease, Axonal, Type 2h

Articles related to Charcot-Marie-Tooth Disease, Axonal, Type 2h:

# Title Authors PMID Year
1
Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3. 57
11166163 2001
2
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 61
26556829 2016

Variations for Charcot-Marie-Tooth Disease, Axonal, Type 2h

Expression for Charcot-Marie-Tooth Disease, Axonal, Type 2h

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Axonal, Type 2h.

Pathways for Charcot-Marie-Tooth Disease, Axonal, Type 2h

GO Terms for Charcot-Marie-Tooth Disease, Axonal, Type 2h

Sources for Charcot-Marie-Tooth Disease, Axonal, Type 2h

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
Content
Loading form....