CMT2H
MCID: CHR545
MIFTS: 28

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

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 56 52
Charcot-Marie-Tooth Disease Type 2h 12 52 58 29
Cmt2h 56 12 52 58
Axonal Charcot-Marie-Tooth Disease with Pyramidal Involvement 12 52 58
Autosomal Recessive Axonal Cmt4c2 12 52 58
Charcot-Marie-Tooth Disease, Axonal, with Pyramidal Features, Autosomal Recessive 56 52
Charcot-Marie-Tooth Disease Axonal Type 2h 12 15
Ar-Cmt2c 12 58
Charcot-Marie-Tooth Neuropathy, Axonal, with Pyramidal Features, Autosomal Recessive 56
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 71
Charcot Marie Tooth Disease Type 2h 52
Cmt 2h 52

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 56 607731
OMIM Phenotypic Series 56 PS118220
ICD10 32 G60.0
MESH via Orphanet 44 C535415
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 72 C1843173
Orphanet 58 ORPHA101102
MedGen 41 C1843173
UMLS 71 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, recessive intermediate a and tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2h is CMT2H (Charcot-Marie-Tooth Disease, Axonal, Type 2H). Affiliated tissues include skin, and related phenotypes are pes cavus and distal amyotrophy

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 31)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, recessive intermediate a 30.4 GDAP1 DNAJB2
2 tooth disease 30.3 TRIM2 LRSAM1 GDAP1 COX6A1 CMT2H
3 hereditary motor and sensory neuropathy, type iic 30.3 LRSAM1 GDAP1
4 axonal neuropathy 29.6 TRIM2 GDAP1
5 charcot-marie-tooth disease 29.3 TRIM2 LRSAM1 GDAP1 DNAJB2 COX6A1 CMT2H
6 hereditary spastic paraplegia 72 10.2 SPG21 C12orf65
7 neuropathy, hereditary sensory, type iic 10.1 SPG21 C12orf65
8 charcot-marie-tooth disease, axonal, type 2a1 10.1 LRSAM1 GDAP1
9 spastic paraplegia 63, autosomal recessive 10.1 SPG21 C12orf65
10 charcot-marie-tooth disease, axonal, type 2k 10.0 GDAP1 DNAJB2
11 spastic paraplegia 54, autosomal recessive 10.0 SPG21 CYP2U1
12 spastic paraplegia 49, autosomal recessive 10.0 SPG21 CYP2U1
13 charcot-marie-tooth disease, type 4a 10.0 GDAP1 DNAJB2
14 spastic paraplegia 56, autosomal recessive 10.0 SPG21 CYP2U1
15 charcot-marie-tooth disease, demyelinating, type 1c 10.0 LRSAM1 GDAP1
16 spastic paraplegia 46, autosomal recessive 10.0 SPG21 CYP2U1
17 masa syndrome 9.9 SPG21 C12orf65
18 motor peripheral neuropathy 9.8 GDAP1 DNAJB2
19 paraplegia 9.8 SPG21 CYP2U1 C12orf65
20 hereditary spastic paraplegia 9.7 SPG21 CYP2U1 C12orf65
21 charcot-marie-tooth disease intermediate type 9.7 LRSAM1 GDAP1 DNAJB2
22 optic nerve disease 9.7 GDAP1 C12orf65
23 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 9.6 LRSAM1 GDAP1 DNAJB2
24 charcot-marie-tooth disease, axonal, type 2b1 9.2 SPG21 LRSAM1 GDAP1 DNAJB2 C12orf65
25 charcot-marie-tooth disease, axonal, type 2p 8.8 TRIM2 LRSAM1 GDAP1 DNAJB2 C12orf65
26 charcot-marie-tooth disease, recessive intermediate d 8.4 TRIM2 SPG21 LRSAM1 DNAJB2 COX6A1 C12orf65
27 spastic paraplegia 55, autosomal recessive 8.1 TRIM2 SPG21 LRSAM1 GDAP1 DNAJB2 COX6A1
28 charcot-marie-tooth disease, axonal, type 2t 7.7 TRIM2 SPG21 LRSAM1 GDAP1 DNAJB2 CYP2U1
29 charcot-marie-tooth disease, axonal, type 2r 7.7 TRIM2 SPG21 LRSAM1 GDAP1 DNAJB2 CYP2U1
30 charcot-marie-tooth disease, axonal, type 2b2 7.7 TRIM2 SPG21 LRSAM1 GDAP1 DNAJB2 CYP2U1
31 charcot-marie-tooth disease, axonal, type 2e 7.7 TRIM2 SPG21 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 distal amyotrophy 31 HP:0003693
3 foot dorsiflexor weakness 31 HP:0009027
4 hyperreflexia in upper limbs 31 HP:0007350
5 distal muscle weakness 31 HP:0002460
6 steppage gait 31 HP:0003376
7 absent achilles reflex 31 HP:0003438
8 hyperactive patellar reflex 31 HP:0007083
9 distal sensory impairment 31 HP:0002936
10 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
11 axonal regeneration 31 HP:0003450

Symptoms via clinical synopsis from OMIM:

56
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 29

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

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Axonal, Type 2h:

40
Skin

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. 56
11166163 2001
2
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998
3
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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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