loading...| Preferred Name | Charcot-Marie-Tooth disease dominant intermediate D | |
| Synonyms |
Charcot Marie Tooth disease dominant intermediate 3 Charcot-Marie-Tooth disease, dominant intermediate D MPZ-related intermediate Charcot-Marie-Tooth neuropathy Charcot-Marie-Tooth neuropathy, dominant Intermediate D Di-Cmtd Charcot-Marie-Tooth disease dominant intermediate type D Charcot-Marie-Tooth neuropathy dominant intermediate D Charcot-Marie-Tooth disease caused by mutation in MPZ MPZ Charcot-Marie-Tooth disease autosomal dominant intermediate Charcot-Marie-Tooth disease type D Charcot-Marie-Tooth disease, dominant Intermediate type D CMTDID DI-CMTD |
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| Definitions |
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0011909 |
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| database_cross_reference |
SCTID:765747004 MESH:C564333 Orphanet:100046 MEDGEN:334318 OMIM:607791 DOID:0110200 UMLS:C1843075 GARD:9207 |
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| definition |
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor. |
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| exactMatch |
http://identifiers.org/medgen/334318 http://identifiers.org/snomedct/765747004 http://identifiers.org/mesh/C564333 http://purl.obolibrary.org/obo/DOID_0110200 |
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| has_exact_synonym |
Charcot-Marie-Tooth disease dominant intermediate type D Charcot-Marie-Tooth neuropathy dominant intermediate D Charcot-Marie-Tooth disease caused by mutation in MPZ MPZ Charcot-Marie-Tooth disease autosomal dominant intermediate Charcot-Marie-Tooth disease type D Charcot-Marie-Tooth disease, dominant Intermediate type D CMTDID DI-CMTD |
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| has_related_synonym |
Charcot Marie Tooth disease dominant intermediate 3 Charcot-Marie-Tooth disease, dominant intermediate D MPZ-related intermediate Charcot-Marie-Tooth neuropathy Charcot-Marie-Tooth neuropathy, dominant Intermediate D Di-Cmtd |
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| id |
MONDO:0011909 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disorder http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
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| label |
Charcot-Marie-Tooth disease dominant intermediate D |
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| notation |
MONDO:0011909 |
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| preferred label |
Charcot-Marie-Tooth disease dominant intermediate D |
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| prefLabel |
Charcot-Marie-Tooth disease dominant intermediate D |
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| subClassOf |