Neuropathy, Congenital Hypomyelinating malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases
Aliases & Descriptions for Neuropathy, Congenital Hypomyelinating:
Orphanet epidemiological data:51
charcot-marie-tooth disease type 4e:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases
Rare neurological diseases
OMIM:49 Congenital hypomyelinating neuropathy (CHN) is characterized clinically by early onset of hypotonia, areflexia, distal... (605253) more...
MalaCards based summary: Neuropathy, Congenital Hypomyelinating, also known as congenital hypomyelinating neuropathy, is related to dejerine-sottas disease and charcot-marie-tooth disease, type 1b, and has symptoms including peripheral neuropathy, peripheral hypomyelination and distal amyotrophy. An important gene associated with Neuropathy, Congenital Hypomyelinating is EGR2 (Early Growth Response 2), and among its related pathways are Neural Crest Differentiation and Adipogenesis. Affiliated tissues include liver, bone and bone marrow, and related mouse phenotypes are nervous system and behavior/neurological.
Disease Ontology:10 A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has material basis in autosomal recessive inheritance.
NIH Rare Diseases:45 Charcot-marie-tooth type 4 (cmt4) is a congenital neurologic hereditary disease, part of a group of peripheral neuropathies known as charcot-marie-tooth disease (cmt). it is classified in cmt4a, cmt4b1, cmt4b2, cmt4c, cmt4d, cmt4e, cmt4f, cmt4h and cmt4j. each sub-type is very rare and may affect a particular ethnic group. in general, people with cmt4 develop symptoms of leg weakness in childhood and by adolescence they may not be able to walk. other signs and symptoms include distal muscle tissue loss (muscle atrophy) associated with sensory loss and, an abnormally high arched foot (pes cavus). sub-types may have slightly different clinical features between them. several genes have been identified as causing cmt4, including gdap1 (cmt4a), mtmr13 (cmt4b1), mtmr2 (cmt4b2), sh3tc2 (cmt4c), ndg1(cmt4d), egr2 (cmt4e), prx (cmt4f), fdg4 (cmt4h), and fig4 (cmt4j). cmt4 is distinguished from other forms of cmt by its autosomal recessive inheritance. treatment is symptomatic and includes physical therapy, corrective surgery (when needed) and pain medication. last updated: 3/8/2016
UniProtKB/Swiss-Prot:67 Neuropathy, congenital hypomyelinating or amyelinating: A severe degenerating neuropathy that results from a congenital impairment in myelin formation. It is clinically characterized by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as 3m/s). Some patients manifest nearly complete absence of spontaneous limb movements, respiratory distress at birth, and complete absence of myelin shown by electron microscopy of peripheral nerves. Inheritance can be autosomal dominant or recessive.
HPO human phenotypes related to Neuropathy, Congenital Hypomyelinating:(show all 11)
UMLS symptoms related to Neuropathy, Congenital Hypomyelinating:gait, drop foot, ataxia, sensory
MalaCards organs/tissues related to Neuropathy, Congenital Hypomyelinating:33
Liver, Bone, Bone marrow, Uterus, Myeloid, Endothelial
MGI Mouse Phenotypes related to Neuropathy, Congenital Hypomyelinating:38
UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Congenital Hypomyelinating:67
Clinvar genetic disease variations for Neuropathy, Congenital Hypomyelinating:5
Search GEO for disease gene expression data for Neuropathy, Congenital Hypomyelinating.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet