Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation

MedGen UID:: 1800451
•Concept ID:: C5569028
•: Disease or Syndrome

Synonyms:	autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to trafficking from endoplasmic reticulum to golgi regulator mutation; CMT2 due to TFG mutation
SNOMED CT:	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation (1187566006); Autosomal dominant Charcot-Marie-Tooth disease type 2 due to trafficking from endoplasmic reticulum to golgi regulator mutation (1187566006)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0018567
Orphanet:	ORPHA435819

Definition

A rare axonal hereditary motor and sensory neuropathy with characteristics of adult onset of slowly progressive distal muscle weakness and atrophy, decreased deep tendon reflexes of lower limbs and mild distal sensory loss leading to gait difficulties in most patients. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAutosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation

Fetal anomaly
- Congenital Systemic Disorder
  - Abnormality of the nervous system
    - Hereditary motor and sensory neuropathy
      - Charcot-Marie-Tooth disease
        Charcot-Marie-Tooth disease type 2
        Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation

Recent clinical studies

Etiology

Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy.

Xu L, Wang Y, Wang W, Zhang R, Zhao D, Yun Y, Liu F, Zhao Y, Yan C, Lin P
J Med Genet 2024 Mar 21;61(4):325-331. doi: 10.1136/jmg-2023-109485. PMID: 37890998

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Diagnosis

Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy.

Xu L, Wang Y, Wang W, Zhang R, Zhao D, Yun Y, Liu F, Zhao Y, Yan C, Lin P
J Med Genet 2024 Mar 21;61(4):325-331. doi: 10.1136/jmg-2023-109485. PMID: 37890998

See all (1)

Clinical prediction guides

Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene.

Lee SS, Lee HJ, Park JM, Hong YB, Park KD, Yoo JH, Koo H, Jung SC, Park HS, Lee JH, Lee MG, Hyun YS, Nakhro K, Chung KW, Choi BO
JAMA Neurol 2013 May;70(5):607-15. doi: 10.1001/jamaneurol.2013.1250. PMID: 23553329

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Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

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