MCID: CHR545
MIFTS: 29

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

Categories: Rare diseases, Neuronal diseases, Genetic 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 53
Charcot-Marie-Tooth Disease Type 2h 12 53 59 29
Cmt2h 57 12 53 59
Axonal Charcot-Marie-Tooth Disease with Pyramidal Involvement 12 53 59
Autosomal Recessive Axonal Cmt4c2 12 53 59
Charcot-Marie-Tooth Disease, Axonal, with Pyramidal Features, Autosomal Recessive 57 53
Charcot-Marie-Tooth Disease Axonal Type 2h 12 15
Ar-Cmt2c 12 59
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 73
Charcot Marie Tooth Disease Type 2h 53
Wdr16 Protein, Human 44
Cmt 2h 53

Characteristics:

Orphanet epidemiological data:

59
charcot-marie-tooth disease type 2h
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in first decade


HPO:

32
charcot-marie-tooth disease, axonal, type 2h:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 607731
Disease Ontology 12 DOID:0110166
ICD10 33 G60.0
Orphanet 59 ORPHA101102
MESH via Orphanet 45 C535415
UMLS via Orphanet 74 C1843173
ICD10 via Orphanet 34 G60.0
MedGen 42 C1843173
UMLS 73 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 spastic paraplegia 56, autosomal recessive. 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

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

(show all 16)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 29.0 CMT2H COX6A1 DNAJB2 GDAP1 TRIM2
2 spastic paraplegia 56, autosomal recessive 9.8 COX6A1 TRIM2
3 charcot-marie-tooth disease, axonal, type 2k 9.6 DNAJB2 GDAP1
4 axonal neuropathy 9.6 GDAP1 TRIM2
5 charcot-marie-tooth disease intermediate type 9.2 COX6A1 DNAJB2 TRIM2
6 spastic paraplegia 46, autosomal recessive 8.9 COX6A1 SPG21 TRIM2
7 charcot-marie-tooth disease type 2a2 8.3 COX6A1 DNAJB2 SPG21 TRIM2
8 charcot-marie-tooth disease, axonal, type 2b2 8.3 COX6A1 DNAJB2 SPG21 TRIM2
9 amyotrophic lateral sclerosis type 5 8.3 COX6A1 DNAJB2 SPG21 TRIM2
10 charcot-marie-tooth disease, axonal, type 2b1 8.3 COX6A1 DNAJB2 SPG21 TRIM2
11 charcot-marie-tooth disease, recessive intermediate d 7.8 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
12 spastic paraplegia 55, autosomal recessive 7.8 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
13 charcot-marie-tooth disease, axonal, type 2r 7.8 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
14 charcot-marie-tooth disease, axonal, type 2p 7.8 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
15 charcot-marie-tooth disease, axonal, type 2t 7.8 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
16 charcot-marie-tooth disease, axonal, type 2e 7.3 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 pes cavus 32 HP:0001761
2 foot dorsiflexor weakness 32 HP:0009027
3 distal muscle weakness 32 HP:0002460
4 steppage gait 32 HP:0003376
5 absent achilles reflex 32 HP:0003438
6 distal amyotrophy 32 HP:0003693
7 hyperactive patellar reflex 32 HP:0007083
8 hyperreflexia in upper limbs 32 HP:0007350
9 distal sensory impairment 32 HP:0002936
10 decreased number of peripheral myelinated nerve fibers 32 HP:0003380

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

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

Cochrane evidence based reviews: wdr16 protein, human

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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