ONTOLOGY REPORT - ANNOTATIONS


Term:Gamstorp-Wohlfart syndrome
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Accession:DOID:0050526 term browser browse the term
Definition:A rare neuromuscular disorder with onset usually in late childhood or early adulthood, characterized by intermittent or continuous widespread involuntary muscle contractions; FASCICULATION; hyporeflexia; MUSCLE CRAMP; MUSCLE WEAKNESS; HYPERHIDROSIS; TACHYCARDIA; and MYOKYMIA. Involvement of pharyngeal or laryngeal muscles may interfere with speech and breathing. The continuous motor activity persists during sleep and general anesthesia (distinguishing this condition from STIFF-PERSON SYNDROME). Familial and acquired (primarily autoimmune) forms have been reported. (From Ann NY Acad Sci 1998 May 13;841:482-496; Adams et al., Principles of Neurology, 6th ed, p1491)
Synonyms:exact_synonym: Continuous Myokymia;   Continuous Myokymias;   Isaac Syndrome;   Isaacs Mertens Syndrome;   Isaacs Pseudomyotonia Syndrome;   Isaacs Syndrome;   Isaacs-Mertens Syndromes;   Myokymia, Myotonia, Muscle Wasting, And Hyperhidrosis;   NMAN;   Neuromyotonia;   Pseudomyotonia;   Pseudomyotonia Syndrome of Isaacs;   acquired neuromyotonia;   autosomal recessive neuromyotonia and axonal neuropathy;   continuous muscle activity syndrome;   myokymia, myotonia and muscle wasting;   quantal squander;   syndrome of continuous muscle activity
 primary_id: MESH:D020386
 alt_id: OMIM:137200;   RDO:0007405
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Gamstorp-Wohlfart syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hint1 histidine triad nucleotide binding protein 1 JBrowse link 10 40,208,236 40,211,981 RGD:7240710
RGD:8554872

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  disease 14875
    syndrome 4220
      Gamstorp-Wohlfart syndrome 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        peripheral nervous system disease 2009
          neuropathy 1830
            neuromuscular disease 1411
              muscular disease 908
                Gamstorp-Wohlfart syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.