CMT2DD
MCID: CHR678
MIFTS: 22

Charcot-Marie-Tooth Disease, Axonal, Type 2dd (CMT2DD)

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

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

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

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2dd 57 74 29 6 40
Cmt2dd 57 59 74
Charcot-Marie-Tooth Neuropathy, Type 2dd 57 74
Atp1a1-Related Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 59
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2dd 59
Charcot-Marie-Tooth Disease 2dd 74
Atp1a1-Related Cmt2 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
lower limbs more affected than upper limbs
most patients remain ambulatory
some patients have upper limb involvement
variable age at onset (range late childhood to fifties)
most patients have onset in teens or twenties
some patients may have a subclinical course with minimal neurologic findings


HPO:

32
charcot-marie-tooth disease, axonal, type 2dd:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

MeSH 44 D002607
Orphanet 59 ORPHA521414

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

OMIM : 57 Charcot-Marie-Tooth disease type 2DD is an autosomal dominant peripheral sensorimotor neuropathy mainly affecting the lower limbs. Affected individuals have gait impairment due to distal muscle weakness and atrophy. Some patients may also have involvement of the distal upper limbs, resulting in atrophy of the intrinsic hand muscles. The age at onset and severity of the disorder is highly variable, even within families, and those with earlier onset in late childhood or the teenage years tend to have a more severe disease course. Patients remain ambulatory even late in the disease, although some may require orthotic devices (summary by Lassuthova et al., 2018). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (118210). (618036)

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2dd, is also known as cmt2dd. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2dd is ATP1A1 (ATPase Na+/K+ Transporting Subunit Alpha 1). Related phenotypes are areflexia and pes cavus

UniProtKB/Swiss-Prot : 74 Charcot-Marie-Tooth disease 2DD: A dominant axonal 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. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

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

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

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 areflexia 32 HP:0001284
2 pes cavus 32 HP:0001761
3 hyporeflexia 32 HP:0001265
4 sensorimotor neuropathy 32 HP:0007141
5 foot dorsiflexor weakness 32 HP:0009027
6 steppage gait 32 HP:0003376
7 muscle spasm 32 HP:0003394

Symptoms via clinical synopsis from OMIM:

57
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
steppage gait
foot drop
sensorimotor peripheral neuropathy
more
Muscle Soft Tissue:
muscle cramps
distal muscle atrophy due to peripheral neuropathy
distal muscle weakness due to peripheral neuropathy

Skeletal Feet:
pes cavus

Skeletal Hands:
atrophy of the intrinsic hand muscles

Clinical features from OMIM:

618036

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

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

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

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

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Axonal, Type 2dd 29 ATP1A1

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

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

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

# Title Authors PMID Year
1
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. 8 71
29499166 2018
2
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 71
20301532 1998

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

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2dd:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ATP1A1 NM_000701.8(ATP1A1): c.143T> G (p.Leu48Arg) single nucleotide variant Pathogenic rs1553190285 1:116927424-116927424 1:116384802-116384802
2 ATP1A1 NM_000701.8(ATP1A1): c.1798C> G (p.Pro600Ala) single nucleotide variant Pathogenic rs1553192091 1:116937869-116937869 1:116395247-116395247
3 ATP1A1 NM_000701.8(ATP1A1): c.1798C> A (p.Pro600Thr) single nucleotide variant Pathogenic rs1553192091 1:116937869-116937869 1:116395247-116395247
4 ATP1A1 NM_000701.8(ATP1A1): c.1775T> C (p.Ile592Thr) single nucleotide variant Pathogenic rs1553192086 1:116937846-116937846 1:116395224-116395224
5 ATP1A1 NM_000701.8(ATP1A1): c.2432A> C (p.Asp811Ala) single nucleotide variant Pathogenic rs1553192783 1:116941690-116941690 1:116399068-116399068

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2dd:

74
# Symbol AA change Variation ID SNP ID
1 ATP1A1 p.Leu48Arg VAR_081039 rs155319028
2 ATP1A1 p.Pro600Ala VAR_081042 rs155319209
3 ATP1A1 p.Asp811Ala VAR_081045 rs155319278

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

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

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....