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 Autosomal dominant
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.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00029638 - - - F no Belgium white - 0 - - BRGDA, myotonia congenita, autosomal dominant (Thomsen disease) - CCDC60, CLCN1, SCN4A, SCN5A CLCN1 1 1 Uschi Peeters
00029639 - - - F no Belgium white - 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
Legend   How to query