CMTDIG
MCID: CHR676
MIFTS: 22

Charcot-Marie-Tooth Disease, Dominant Intermediate G (CMTDIG)

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

Aliases & Classifications for Charcot-Marie-Tooth Disease, Dominant Intermediate G

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Dominant Intermediate G:

Name: Charcot-Marie-Tooth Disease, Dominant Intermediate G 57 75 6
Cmtdig 57 75
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, G 75
Charcot-Marie-Tooth Disease Dominant Intermediate G 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
slowly progressive
later onset has been reported
onset usually in first or second decade


HPO:

32
charcot-marie-tooth disease, dominant intermediate g:
Onset and clinical course phenotypic variability slow progression


Classifications:



Summaries for Charcot-Marie-Tooth Disease, Dominant Intermediate G

OMIM : 57 CMTDIG is an autosomal dominant neurologic disorder with a highly variable phenotype. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment. More severely affected individuals may have pes cavus and claw hands and become wheelchair-bound, whereas other affected individuals have later onset with a milder disease course. Electrophysiologic studies tend to show median motor nerve conduction velocities (NCV) in the 'intermediate' range, between 25 and 45 m/s (summary by Berciano et al., 2017). In a review of intermediate CMT, Berciano et al. (2017) noted that advanced axonal degeneration may induce secondary demyelinating changes resulting in decreased NCV and attenuated compound muscle action potential (CMAP) in median nerve conduction studies. They thus suggested that testing the upper arm, axilla to elbow, may provide more accurate assessment of NCV and CMAP and reveal an intermediate phenotype (review by Berciano et al., 2017). For a discussion of genetic heterogeneity of CMTDI, see 606482. (617882)

MalaCards based summary : Charcot-Marie-Tooth Disease, Dominant Intermediate G, is also known as cmtdig. An important gene associated with Charcot-Marie-Tooth Disease, Dominant Intermediate G is NEFL (Neurofilament Light). Affiliated tissues include testes, and related phenotypes are nystagmus and ataxia

UniProtKB/Swiss-Prot : 75 Charcot-Marie-Tooth disease, dominant intermediate G: An autosomal dominant, intermediate 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. Dominant intermediate forms are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. CMTDIG is phenotypically variable. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment.

Related Diseases for Charcot-Marie-Tooth Disease, Dominant Intermediate G

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Dominant Intermediate G

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
pes cavus
pes calcaneovalgus

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
loss of large myelinated fibers seen on sural nerve biopsy
sensorimotor neuropathy (upper and lower limbs affected)
more
Muscle Soft Tissue:
muscle weakness, distal
upper and lower limbs affected
proximal muscle weakness (in some patients)
amyotrophy, distal
gower sign (in some patients)

Head And Neck Ears:
sensorineural hearing loss (in some patients)

Neurologic Central Nervous System:
waddling gait
steppage gait
delayed motor development
extensor plantar responses
impaired gait
more
Laboratory Abnormalities:
increased serum creatine kinase

Skeletal Hands:
claw hands

Head And Neck Eyes:
nystagmus (uncommon)
impaired blink response (in some patients)
abnormal saccades (uncommon)


Clinical features from OMIM:

617882

Human phenotypes related to Charcot-Marie-Tooth Disease, Dominant Intermediate G:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 ataxia 32 very rare (1%) HP:0001251
3 spasticity 32 very rare (1%) HP:0001257
4 babinski sign 32 HP:0003487
5 pes cavus 32 HP:0001761
6 waddling gait 32 HP:0002515
7 motor delay 32 HP:0001270
8 areflexia 32 HP:0001284
9 hyporeflexia 32 HP:0001265
10 sensorimotor neuropathy 32 HP:0007141
11 gowers sign 32 very rare (1%) HP:0003391
12 distal muscle weakness 32 HP:0002460
13 steppage gait 32 HP:0003376
14 distal sensory impairment 32 HP:0002936

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Dominant Intermediate G

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Dominant Intermediate G

Genetic Tests for Charcot-Marie-Tooth Disease, Dominant Intermediate G

Anatomical Context for Charcot-Marie-Tooth Disease, Dominant Intermediate G

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Dominant Intermediate G:

41
Testes

Publications for Charcot-Marie-Tooth Disease, Dominant Intermediate G

Variations for Charcot-Marie-Tooth Disease, Dominant Intermediate G

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Dominant Intermediate G:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NEFL NM_006158.4(NEFL): c.293A> G (p.Asn98Ser) single nucleotide variant Pathogenic rs58982919 GRCh37 Chromosome 8, 24813737: 24813737
2 NEFL NM_006158.4(NEFL): c.293A> G (p.Asn98Ser) single nucleotide variant Pathogenic rs58982919 GRCh38 Chromosome 8, 24956223: 24956223
3 NEFL NM_006158.4(NEFL): c.1186G> A (p.Glu396Lys) single nucleotide variant Pathogenic rs62636503 GRCh37 Chromosome 8, 24811293: 24811293
4 NEFL NM_006158.4(NEFL): c.1186G> A (p.Glu396Lys) single nucleotide variant Pathogenic rs62636503 GRCh38 Chromosome 8, 24953779: 24953779

Expression for Charcot-Marie-Tooth Disease, Dominant Intermediate G

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Dominant Intermediate G.

Pathways for Charcot-Marie-Tooth Disease, Dominant Intermediate G

GO Terms for Charcot-Marie-Tooth Disease, Dominant Intermediate G

Sources for Charcot-Marie-Tooth Disease, Dominant Intermediate G

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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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44 MeSH
45 MESH via Orphanet
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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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