Details of Disease

General Information of Disease (ID: DISMM1M7)

• Disease Name: Charcot-Marie-Tooth disease recessive intermediate A
• Synonyms: Ri-Cmta; Charcot-Marie-Tooth disease, recessive intermediate A; Charcot-Marie-Tooth neuropathy, recessive Intermediate a; Charcot-Marie-Tooth disease, recessive intermediate, A; Charcot-Marie-Tooth neuropathy recessive intermediate A; autosomal recessive intermediate Charcot-Marie-Tooth disease type A; GDAP1 Charcot-Marie-Tooth disease; RI-CMTA; RI-CMT type A; Charcot-Marie-Tooth disease caused by mutation in GDAP1; Charcot-Marie-Tooth disease, recessive Intermediate type a; CMTRIA; Charcot-Marie-Tooth disease recessive intermediate type A
• Definition: Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.
• Disease Hierarchy:
  DIS3BT2L: Charcot marie tooth disease
  DIS468CE: Autosomal recessive intermediate Charcot-Marie-Tooth disease
  DISMM1M7: Charcot-Marie-Tooth disease recessive intermediate A
• Disease Identifiers:
  MONDO ID: MONDO_0012014
  MESH ID: C564256
  UMLS CUI: C1842197
  OMIM ID: 608340
  MedGen ID: 334012
  Orphanet ID: 217055

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GDAP1	OTQE1O25	Strong	Autosomal recessive	[1]

References

• [1] Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet. 2002 Jan;30(1):21-2. doi: 10.1038/ng796. Epub 2001 Dec 17.