Details of Disease

General Information of Disease (ID: DIS00RWZ)

• Disease Name: Charcot-Marie-Tooth disease type 2B
• Synonyms: Charcot-Marie-Tooth neuropathy, type 2B; Charcot-Marie-Tooth disease, neuronal, type 2B; Charcot-Marie-Tooth disease, axonal, type 2B; CMT 2B; hereditary motor and sensory neuropathy 2B; Charcot-Marie-Tooth disease, autosomal dominant, type 2B; Charcot Marie Tooth disease type 2B; hereditary motor and sensory neuropathy 2 B (HMSN 2 B); peripheral sensory neuropathy, autosomal dominant (PSN); hereditary motor and sensory nueropathy IIB; HMSN IIB; autosomal dominant Charcot-Marie-Tooth disease type 2B; CMT2B; Charcot-Marie-Tooth disease type 2 caused by mutation in RAB7A; Charcot-Marie-Tooth disease, type 2B; HMSN2B; RAB7A Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth neuropathy type 2B
• Definition: Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.
• Disease Hierarchy:
  DISR30O9: Charcot-Marie-Tooth disease type 2
  DIS00RWZ: Charcot-Marie-Tooth disease type 2B
• Disease Identifiers:
  MONDO ID: MONDO_0010949
  MESH ID: C537989
  UMLS CUI: C1833219
  OMIM ID: 600882
  MedGen ID: 371512
  Orphanet ID: 99936
  SNOMED CT ID: 717008005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RAB7A	TTF6WAQ	Disputed	Biomarker	[1]
DNM2	TTVRA5G	Strong	Genetic Variation	[2]
RAB7A	TTF6WAQ	Strong	Autosomal dominant	[3]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RAB18	OTNMAQLS	Disputed	Genetic Variation	[1]
RAB7A	OTBSPWMQ	Strong	Autosomal dominant	[3]
RAB7B	OT60A0E9	Strong	Biomarker	[1]
SPTLC1	OTN0Z98K	Strong	Genetic Variation	[4]

References

• [1] Rab18 Collaborates with Rab7 to Modulate Lysosomal and Autophagy Activities in the Nervous System: an Overlapping Mechanism for Warburg Micro Syndrome and Charcot-Marie-Tooth Neuropathy Type 2B.Mol Neurobiol. 2019 Sep;56(9):6095-6105. doi: 10.1007/s12035-019-1471-z. Epub 2019 Feb 5.
• [2] Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.Neuromuscul Disord. 2007 Dec;17(11-12):955-9. doi: 10.1016/j.nmd.2007.06.467. Epub 2007 Sep 6.
• [3] The treatment of pharyngeal pouch. J Laryngol Otol. 1978 Dec;92(12):1101-15. doi: 10.1017/s0022215100086564.
• [4] Hereditary sensory neuropathies.Drugs Today (Barc). 2004 May;40(5):385-94. doi: 10.1358/dot.2004.40.5.850487.