CMT2DD
MCID: CHR678
MIFTS: 21

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 58 76 30 6
Cmt2dd 58 60 76
Charcot-Marie-Tooth Neuropathy, Type 2dd 58 76
Atp1a1-Related Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 60
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2dd 60
Charcot-Marie-Tooth Disease 2dd 76
Atp1a1-Related Cmt2 60

Characteristics:

OMIM:

58
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


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 618036
MeSH 45 D002607
Orphanet 60 ORPHA521414
MedGen 43 CN248781

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

OMIM : 58 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).

UniProtKB/Swiss-Prot : 76 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

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
pes cavus

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 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 30 ATP1A1

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

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

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

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

76
# Symbol AA change Variation ID SNP ID
1 ATP1A1 p.Leu48Arg VAR_081039
2 ATP1A1 p.Pro600Ala VAR_081042
3 ATP1A1 p.Asp811Ala VAR_081045

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP1A1 NM_000701.7(ATP1A1): c.143T> G (p.Leu48Arg) single nucleotide variant Pathogenic rs1553190285 GRCh37 Chromosome 1, 116927424: 116927424
2 ATP1A1 NM_000701.7(ATP1A1): c.143T> G (p.Leu48Arg) single nucleotide variant Pathogenic rs1553190285 GRCh38 Chromosome 1, 116384802: 116384802
3 ATP1A1 NM_000701.7(ATP1A1): c.1798C> G (p.Pro600Ala) single nucleotide variant Pathogenic rs1553192091 GRCh37 Chromosome 1, 116937869: 116937869
4 ATP1A1 NM_000701.7(ATP1A1): c.1798C> G (p.Pro600Ala) single nucleotide variant Pathogenic rs1553192091 GRCh38 Chromosome 1, 116395247: 116395247
5 ATP1A1 NM_000701.7(ATP1A1): c.1798C> A (p.Pro600Thr) single nucleotide variant Pathogenic rs1553192091 GRCh37 Chromosome 1, 116937869: 116937869
6 ATP1A1 NM_000701.7(ATP1A1): c.1798C> A (p.Pro600Thr) single nucleotide variant Pathogenic rs1553192091 GRCh38 Chromosome 1, 116395247: 116395247
7 ATP1A1 NM_000701.7(ATP1A1): c.1775T> C (p.Ile592Thr) single nucleotide variant Pathogenic rs1553192086 GRCh37 Chromosome 1, 116937846: 116937846
8 ATP1A1 NM_000701.7(ATP1A1): c.1775T> C (p.Ile592Thr) single nucleotide variant Pathogenic rs1553192086 GRCh38 Chromosome 1, 116395224: 116395224
9 ATP1A1 NM_000701.7(ATP1A1): c.2432A> C (p.Asp811Ala) single nucleotide variant Pathogenic rs1553192783 GRCh37 Chromosome 1, 116941690: 116941690
10 ATP1A1 NM_000701.7(ATP1A1): c.2432A> C (p.Asp811Ala) single nucleotide variant Pathogenic rs1553192783 GRCh38 Chromosome 1, 116399068: 116399068

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

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17 EFO
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35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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