Disease #01457 (myotonia congenita, autosomal dominant (Thomsen disease), OMIM:160800)

Official abbreviation -
Name myotonia congenita, autosomal dominant (Thomsen disease)
OMIM ID 160800
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 37
Phenotype entries for this disease 35
Associated with 1 gene CLCN1
Associated tissues -
Disease features -
Remarks -


Individuals

37 entries on 1 page. Showing entries 1 - 37.
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00029638 - - - F no Belgium Caucasian - 0 - - BRGDA, myotonia congenita, autosomal dominant (Thomsen disease) - CCDC60, CLCN1, SCN4A, SCN5A CLCN1 1 1 Uschi Peeters
00029639 - - - F no Belgium Caucasian - 0 - - BRGDA, myotonia congenita, autosomal dominant (Thomsen disease) asymptomatic Brugada syndrome CLCN1, SCN4A, SCN5A SCN5A 1 1 Uschi Peeters
00081448 - - - M no Spain - - 0 yes - myotonia congenita, autosomal dominant (Thomsen disease) Generalized muscle hypertrophy Myotonia with warm-up phenomenon CLCN1 CLCN1 1 1 Carmen Palma
00081450 - - - F no Spain - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Myotonia with warm-up phenomenon Muscle stiffness CLCN1 CLCN1 1 1 Carmen Palma
00081453 - - - M no Spain - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) - CLCN1 CLCN1 1 1 Carmen Palma
00111710 - Colding-J├Ârgensen 2003 warm up fenomeen - - - - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen CLCN1 CLCN1 1 1 Johan den Dunnen
00111714 - Colding-Jorgensen 2003;Grunnet 2003 warm up effect, percussie myotonie - - - - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen CLCN1 CLCN1 1 1 Johan den Dunnen
00111715 - de Diego 1999 - - - - - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen CLCN1 CLCN1 1 1 Johan den Dunnen
00111718 - de Diego 1999 - - - - - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen CLCN1 CLCN1 1 1 Johan den Dunnen
00111737 - Jou 2004 - - - - - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen? CLCN1 CLCN1 1 1 Johan den Dunnen
00111744 - Kubisch 1998 - - - - - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen CLCN1 CLCN1 1 1 Johan den Dunnen
00111747 - Kubisch 1998 ref func:Kubisch 1998 dominant shift of po - - - - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen CLCN1 CLCN1 1 1 Johan den Dunnen
00111760 - Lehmann-Horn 1995; Meyer-Kleine 1995; Koty 1996 ref func:Pusch 1995b; Saviane 1999; Accardi and Pusch 2000 Dominant shift of po, predominant effect on ps - - - - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen CLCN1 CLCN1 1 1 Johan den Dunnen
00111798 53605.1 Leiden, unpublished - F - Netherlands - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen CLCN1 CLCN1 5 1 Johan den Dunnen
00111805 57741.1 Leiden, unpublished - M - Netherlands - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) - CLCN1 CLCN1 10 1 Johan den Dunnen
00111808 58721.1 Leiden, unpublished - M - Netherlands - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) - CLCN1 CLCN1 12 1 Johan den Dunnen
00111939 55587.1 Leiden, unpublished - M - Netherlands - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) - CLCN1 CLCN1 1 1 Johan den Dunnen
00112011 - Sasaki 2001 - - - - - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen CLCN1 CLCN1 1 1 Johan den Dunnen
00112014 - Simpson 2004 - - - - - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen CLCN1 CLCN1 1 1 Johan den Dunnen
00112022 - Steinmeyer 1994; Meyer-Kleine 1995 - - - - - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen CLCN1 CLCN1 1 1 Johan den Dunnen
00112034 - Wu 2002 - - - - - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen? CLCN1 CLCN1 1 1 Johan den Dunnen
00112037 - Wu 2002 - - - - - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen? CLCN1 CLCN1 1 1 Johan den Dunnen
00112038 - Wu 2002 - - - - - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen? CLCN1 CLCN1 1 1 Johan den Dunnen
00112039 - Wu 2002 ref func:Aromatoris 2001; Kubisch 1998 Dominant shift of po, predominant effect on ps - - - - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen CLCN1 CLCN1 1 1 Johan den Dunnen
00112084 - - - M - Italy - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen CLCN1 CLCN1 1 1 Raffaella Brugnoni
00112086 - - - F - Italy - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen CLCN1 CLCN1 1 1 Raffaella Brugnoni
00112102 - - - F - Italy - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen CLCN1 CLCN1 1 1 Raffaella Brugnoni
00112112 - - - M ? Italy - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen CLCN1 CLCN1 1 1 Raffaella Brugnoni
00112118 - - - F - Italy - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen CLCN1 CLCN1 1 1 Raffaella Brugnoni
00112137 - - - F - Italy - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen CLCN1 CLCN1 1 1 Raffaella Brugnoni
00112142 - - - M - Italy - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen CLCN1 CLCN1 1 1 Raffaella Brugnoni
00112143 - - - M - Italy - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen CLCN1 CLCN1 1 1 Raffaella Brugnoni
00112158 - - - M - Italy - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen CLCN1 CLCN1 1 1 Raffaella Brugnoni
00112843 - Leiden, unpublished - - - Netherlands - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) - SCN4A SCN4A 6 1 Vincent Janmaat
00112876 - Leiden, unpublished - - - Netherlands - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) - SCN4A SCN4A 5 1 Vincent Janmaat
00112877 - Leiden, unpublished - - - Netherlands - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) - SCN4A SCN4A 2 1 Vincent Janmaat
00301607 - - 2 compound heterozygous affected sisters F - Greece - - - - - myotonia congenita, autosomal dominant (Thomsen disease) - CLCN1 CLCN1 2 2 Helen Latsoudis
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