Neuropathy, hereditary motor and sensory, okinawa type

Preferred Label : Neuropathy, hereditary motor and sensory, okinawa type;

Symbol : HMSNO;

CISMeF acronym : HMSNO; HMSNP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HMSNP; Hereditary motor and sensory neuropathy, proximal type;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the TRK-fused gene (TFG, 602498.0001);

Laboratory abnormalities : Mildly increased serum creatine kinase; Hyperlipidemia;

Prefixed ID : #604484;

Détails

Origin ID

604484;

UMLS CUI

C1858338;

Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2 [ORDO Disease]
- Charcot Marie Tooth disease type 2 [Disease (Nov.)]
- Charcot-Marie-Tooth disease type 2 [DO Concept]
- Charcot-Marie-Tooth disease, type II (disorder) [SNOMED CT concept]
- Hereditary motor and sensory neuropathy Okinawa type (disorder) [SNOMED CT concept]
- Hereditary motor and sensory neuropathy, Okinawa type [ORDO Disease]
- Hereditary motor or sensory neuropathy, Okinawa type [ICD-11 More detail]
- Neuropathy, hereditary motor and sensory, Okinawa type [MeSH concept]
- dominant hereditary sensory neuropathy, type ii [SNOMED Notion]
- neuropathy, hereditary motor and sensory, okinawa type [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 2 [DO Concept]
Genes related to phenotype
- Trafficking from er to golgi regulator [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Axonal degeneration [HPO term]
- Decreased number of peripheral myelinated nerve fibers [HPO term]
- Degeneration of anterior horn cells [HPO term]
- Distal sensory impairment [HPO term]
- Fasciculations [HPO term]
- Gait disturbance [HPO term]
- Gliosis [HPO term]
- Hand tremor [HPO term]
- Hyperlipidemia [HPO term]
- Mildly elevated creatine kinase [HPO term]
- Muscle spasm [HPO term]
- Muscle weakness and atrophy [HPO term]
- Peripheral neuropathy [HPO term]
- Proximal amyotrophy [HPO term]
- Proximal muscle weakness [HPO term]
- Sensory neuropathy [HPO term]
- Slowly progressive [HPO term]
- Tetraplegia [HPO term]
ORDO concept(s)
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation [ORDO Disease]
- Hereditary motor and sensory neuropathy, Okinawa type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary motor and sensory neuropathy Okinawa type (disorder) [SNOMED CT concept]
- Hereditary motor and sensory neuropathy, Okinawa type [ORDO Disease]
- Neuropathy, hereditary motor and sensory, Okinawa type [MeSH concept]
- neuropathy, hereditary motor and sensory, okinawa type [MeSH Supplementary Concept]

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