Charcot-marie-tooth disease, demyelinating, type 4d

Preferred Label : Charcot-marie-tooth disease, demyelinating, type 4d;

Symbol : CMT4D;

CISMeF acronym : CMT4D; HMSNL; HMSN4D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HMSN4D; HMSNL; Neuropathy, hereditary motor and sensory, lom type; Charcot-marie-tooth neuropathy, type 4d; Charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4d;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the N-myc downstream regulated gene-1 (NDRG1, 605262.0001);

Prefixed ID : #601455;

Détails

Origin ID

601455;

UMLS CUI

C1832334;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease type 4D [ICD-11 More detail]
- NDRG1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 4D [DO Concept]
- Charcot-Marie-Tooth disease type 4D [ORDO Disease]
- Charcot-Marie-Tooth disease type 4D (disorder) [SNOMED CT concept]
- Neuropathy, hereditary motor and sensory, LOM type [MeSH concept]
- neuropathy, hereditary motor and sensory, LOM type [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 4D [DO Concept]
Genes related to phenotype
- Nmyc downstream-regulated gene 1 [OMIM gene]
HPO term(s)
- Abnormal auditory evoked potentials [HPO term]
- Abnormal brainstem auditory evoked potentials, suggesting demyelination [HPO term]
- Abnormality of the hand [HPO term]
- Abnormality of visual evoked potentials [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal loss [HPO term]
- Chronic immune thrombocytopenia [HPO term]
- Deafness [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Distal amyotrophy [HPO term]
- Distal limb muscle atrophy due to peripheral neuropathy [HPO term]
- Distal limb muscle weakness [HPO term]
- Distal limb muscle weakness due to peripheral neuropathy [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- Gait disturbance [HPO term]
- Hearing impairment [HPO term]
- Hyporeflexia [HPO term]
- Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material [HPO term]
- Juvenile onset [HPO term]
- Onion bulb formation [HPO term]
- Segmental demyelination/remyelination on nerve biopsy [HPO term]
- Segmental peripheral demyelination/remyelination [HPO term]
- Severely reduced nerve conduction velocities [HPO term]
- Talipes cavus equinovarus [HPO term]
ORDO concept(s)
- Charcot-Marie-Tooth disease type 4D [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease type 4D [ORDO Disease]
- Charcot-Marie-Tooth disease type 4D [DO Concept]
- Charcot-Marie-Tooth disease type 4D (disorder) [SNOMED CT concept]
- Neuropathy, hereditary motor and sensory, LOM type [MeSH concept]
- neuropathy, hereditary motor and sensory, LOM type [MeSH Supplementary Concept]

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