MCID: CHR545
MIFTS: 29

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

Categories: Genetic diseases, Metabolic 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 58 54
Charcot-Marie-Tooth Disease Type 2h 12 54 60 30
Cmt2h 58 12 54 60
Axonal Charcot-Marie-Tooth Disease with Pyramidal Involvement 12 54 60
Autosomal Recessive Axonal Cmt4c2 12 54 60
Charcot-Marie-Tooth Disease, Axonal, with Pyramidal Features, Autosomal Recessive 58 54
Charcot-Marie-Tooth Disease Axonal Type 2h 12 15
Ar-Cmt2c 12 60
Charcot-Marie-Tooth Neuropathy, Axonal, with Pyramidal Features, Autosomal Recessive 58
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 74
Charcot Marie Tooth Disease Type 2h 54
Cmt 2h 54

Characteristics:

Orphanet epidemiological data:

60
charcot-marie-tooth disease type 2h
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in first decade


HPO:

33
charcot-marie-tooth disease, axonal, type 2h:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110166
OMIM 58 607731
ICD10 34 G60.0
MESH via Orphanet 46 C535415
ICD10 via Orphanet 35 G60.0
UMLS via Orphanet 75 C1843173
Orphanet 60 ORPHA101102
MedGen 43 C1843173
UMLS 74 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 charcot-marie-tooth disease type 2h, is related to charcot-marie-tooth disease and charcot-marie-tooth disease, axonal, type 2k. 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 foot dorsiflexor weakness

Description from OMIM: 607731

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
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 15)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 30.8 CMT2H COX6A1 DNAJB2 GDAP1 TRIM2
2 charcot-marie-tooth disease, axonal, type 2k 9.8 DNAJB2 GDAP1
3 axonal neuropathy 9.7 GDAP1 TRIM2
4 spastic paraplegia 46, autosomal recessive 9.7 COX6A1 SPG21
5 charcot-marie-tooth disease type 2a2 9.6 COX6A1 DNAJB2 TRIM2
6 charcot-marie-tooth disease intermediate type 9.1 COX6A1 DNAJB2 SPG21 TRIM2
7 charcot-marie-tooth disease, axonal, type 2b1 9.1 COX6A1 DNAJB2 SPG21 TRIM2
8 charcot-marie-tooth disease, axonal, type 2b2 9.1 COX6A1 DNAJB2 SPG21 TRIM2
9 charcot-marie-tooth disease, recessive intermediate d 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
10 spastic paraplegia 55, autosomal recessive 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
11 charcot-marie-tooth disease, axonal, type 2r 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
12 charcot-marie-tooth disease, axonal, type 2p 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
13 amyotrophic lateral sclerosis type 5 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
14 charcot-marie-tooth disease, axonal, type 2t 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
15 charcot-marie-tooth disease, axonal, type 2e 8.6 C12orf65 COX6A1 DNAJB2 GDAP1 SPG21 TRIM2

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:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 pes cavus 33 HP:0001761
2 foot dorsiflexor weakness 33 HP:0009027
3 hyperreflexia in upper limbs 33 HP:0007350
4 distal muscle weakness 33 HP:0002460
5 steppage gait 33 HP:0003376
6 absent achilles reflex 33 HP:0003438
7 distal amyotrophy 33 HP:0003693
8 hyperactive patellar reflex 33 HP:0007083
9 distal sensory impairment 33 HP:0002936
10 decreased number of peripheral myelinated nerve fibers 33 HP:0003380
11 axonal regeneration 33 HP:0003450

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
pes cavus

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

Clinical features from OMIM:

607731

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 Type 2h 30

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

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
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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