Cardiomyopathy, dilated, 3B

General Information (adopted from Orphanet):

Synonyms, Signs: CMD3B
XLCM
Cardiomyopathy, dilated, X-linked
Number of Symptoms 12
OrphanetNr:
OMIM Id: 302045
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked
Monogenic
3574369 [IBIS]
Age of onset: Adult
3574369 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial isolated dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Cardiomyopathy, dilated, 3B is caused by mutations in DMD (PMID:3574369).

Symptom Information: Sort by abundance 

1
 (HPO:0001711) Abnormality of the left ventricle 8789442 IBIS 22 / 7739
2
 (HPO:0001644) Dilated cardiomyopathy 3574369 IBIS 141 / 7739
3
 (HPO:0001685) Myocardial fibrosis 8789442 IBIS 30 / 7739
4
 (HPO:0001700) Myocardial necrosis 8789442 IBIS 6 / 7739
5
 (HPO:0003115) Abnormal EKG 8789442 IBIS 44 / 7739
6
 (HPO:0012665) Moderately reduced ejection fraction 8789442 IBIS 4 / 7739
7
 (HPO:0012666) Severely reduced ejection fraction 8789442 IBIS 9 / 7739
8
 (HPO:0001635) Congestive heart failure 3574369 IBIS 232 / 7739
9
 (HPO:0003236) Elevated serum creatine phosphokinase 8789442 IBIS 214 / 7739
10
 (HPO:0100749) Chest pain 3574369 IBIS 92 / 7739
11
 (OMIM) Dilated left ventricle 8789442 IBIS 5 / 7739
12
 (OMIM) Fractional shortening less than 25% (more common in male patients) 8789442 IBIS 3 / 7739

Associated genes:

DMD;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
DMD rs104894787 pathogenic RCV000150054.3
DMD rs104894790 pathogenic RCV000150053.2
DMD rs104894797 pathogenic RCV000150055.3
DMD rs1064325 pathogenic RCV000080659.4
DMD rs128625229 pathogenic RCV000150056.2
DMD rs128626235 pathogenic RCV000150071.2
DMD rs128626242 pathogenic RCV000150070.2
DMD rs128626245 pathogenic RCV000150068.2
DMD rs128626249 pathogenic RCV000150066.2
DMD rs128626250 pathogenic RCV000150065.2
DMD rs128626251 pathogenic RCV000150064.3
DMD rs128627255 pathogenic RCV000012030.17
DMD rs128627256 pathogenic RCV000150057.3
DMD rs199774535 pathogenic RCV000152881.3
DMD rs201361100 pathogenic RCV000179207.1
DMD rs201366610 pathogenic RCV000150069.2
DMD rs373804251 pathogenic RCV000080682.4
DMD rs398122853 pathogenic RCV000150072.3
DMD rs398123827 pathogenic RCV000080404.4
DMD rs398123828 pathogenic RCV000080405.4
DMD rs398123830 pathogenic RCV000080410.4
DMD rs398123831 pathogenic RCV000080412.3
DMD rs398123832 pathogenic RCV000080413.4
DMD rs398123833 pathogenic RCV000080414.3
DMD rs398123834 pathogenic RCV000080415.4
DMD rs398123835 pathogenic RCV000080416.3
DMD rs398123837 pathogenic RCV000080419.4
DMD rs398123838 pathogenic RCV000080420.3
DMD rs398123840 pathogenic RCV000080422.4
DMD rs398123842 pathogenic RCV000080426.3
DMD rs398123844 pathogenic RCV000080428.3
DMD rs398123845 pathogenic RCV000080430.3
DMD rs398123852 pathogenic RCV000080439.4
DMD rs398123853 pathogenic RCV000080440.3
DMD rs398123854 pathogenic RCV000080441.3
DMD rs398123856 pathogenic RCV000080447.3
DMD rs398123857 pathogenic RCV000080448.4
DMD rs398123858 pathogenic RCV000080449.3
DMD rs398123859 pathogenic RCV000080450.3
DMD rs398123861 pathogenic RCV000080453.4
DMD rs398123862 pathogenic RCV000080454.4
DMD rs398123863 pathogenic RCV000080458.4
DMD rs398123864 pathogenic RCV000080460.3
DMD rs398123865 pathogenic RCV000080461.4
DMD rs398123866 pathogenic RCV000080465.3
DMD rs398123867 pathogenic RCV000080469.4
DMD rs398123868 pathogenic RCV000080470.3
DMD rs398123869 pathogenic RCV000080471.3
DMD rs398123870 pathogenic RCV000080473.4
DMD rs398123871 pathogenic RCV000080475.3
DMD rs398123872 pathogenic RCV000080476.4
DMD rs398123873 pathogenic RCV000080477.3
DMD rs398123874 pathogenic RCV000080478.3
DMD rs398123875 pathogenic RCV000080479.4
DMD rs398123876 pathogenic RCV000080480.3
DMD rs398123877 pathogenic RCV000080483.3
DMD rs398123880 pathogenic RCV000080486.3
DMD rs398123881 pathogenic RCV000080487.3
DMD rs398123882 pathogenic RCV000080489.4
DMD rs398123883 pathogenic RCV000080492.4
DMD rs398123884 pathogenic RCV000080493.4
DMD rs398123885 pathogenic RCV000080494.3
DMD rs398123887 pathogenic RCV000080496.4
DMD rs398123888 pathogenic RCV000080499.4
DMD rs398123889 pathogenic RCV000080500.3
DMD rs398123890 pathogenic RCV000080502.3
DMD rs398123891 pathogenic RCV000080503.3
DMD rs398123893 pathogenic RCV000080506.3
DMD rs398123894 pathogenic RCV000080507.3
DMD rs398123895 pathogenic RCV000080508.4
DMD rs398123901 pathogenic RCV000080514.3
DMD rs398123903 pathogenic RCV000080518.4
DMD rs398123905 pathogenic RCV000080520.3
DMD rs398123908 pathogenic RCV000080524.3
DMD rs398123908 pathogenic RCV000080523.3
DMD rs398123909 pathogenic RCV000080525.4
DMD rs398123910 pathogenic RCV000080526.4
DMD rs398123912 pathogenic RCV000080530.3
DMD rs398123913 pathogenic RCV000080531.4
DMD rs398123914 pathogenic RCV000080532.3
DMD rs398123916 pathogenic RCV000080534.3
DMD rs398123917 pathogenic RCV000080535.3
DMD rs398123918 pathogenic RCV000080537.3
DMD rs398123919 pathogenic RCV000080538.3
DMD rs398123920 pathogenic RCV000080539.3
DMD rs398123921 pathogenic RCV000080540.3
DMD rs398123923 pathogenic RCV000080542.4
DMD rs398123927 pathogenic RCV000080563.3
DMD rs398123929 pathogenic RCV000080565.3
DMD rs398123930 pathogenic RCV000080567.3
DMD rs398123932 pathogenic RCV000080569.3
DMD rs398123934 pathogenic RCV000080572.4
DMD rs398123935 pathogenic RCV000080573.4
DMD rs398123936 pathogenic RCV000080574.4
DMD rs398123937 pathogenic RCV000080578.4
DMD rs398123938 pathogenic RCV000080581.3
DMD rs398123939 pathogenic RCV000080582.3
DMD rs398123941 pathogenic RCV000080584.3
DMD rs398123942 pathogenic RCV000080586.4
DMD rs398123943 pathogenic RCV000080590.3
DMD rs398123944 pathogenic RCV000080591.3
DMD rs398123945 pathogenic RCV000080594.4
DMD rs398123946 pathogenic RCV000080595.4
DMD rs398123947 pathogenic RCV000080598.3
DMD rs398123948 pathogenic RCV000080601.4
DMD rs398123949 pathogenic RCV000080603.4
DMD rs398123950 pathogenic RCV000080608.3
DMD rs398123953 pathogenic RCV000080613.3
DMD rs398123954 pathogenic RCV000080614.3
DMD rs398123955 pathogenic RCV000080615.3
DMD rs398123957 pathogenic RCV000080617.4
DMD rs398123958 pathogenic RCV000080618.3
DMD rs398123959 pathogenic RCV000080619.3
DMD rs398123960 pathogenic RCV000080620.3
DMD rs398123961 pathogenic RCV000080623.4
DMD rs398123962 pathogenic RCV000080624.4
DMD rs398123963 pathogenic RCV000080625.3
DMD rs398123964 pathogenic RCV000080626.3
DMD rs398123969 pathogenic RCV000080631.3
DMD rs398123970 pathogenic RCV000080633.3
DMD rs398123971 pathogenic RCV000080634.3
DMD rs398123972 pathogenic RCV000080635.3
DMD rs398123973 pathogenic RCV000080636.3
DMD rs398123974 pathogenic RCV000080637.3
DMD rs398123977 pathogenic RCV000080641.3
DMD rs398123979 pathogenic RCV000080643.4
DMD rs398123980 pathogenic RCV000080644.3
DMD rs398123981 pathogenic RCV000080648.4
DMD rs398123983 pathogenic RCV000080650.3
DMD rs398123985 pathogenic RCV000080652.3
DMD rs398123987 pathogenic RCV000080654.3
DMD rs398123990 pathogenic RCV000080658.3
DMD rs398123991 pathogenic RCV000080660.3
DMD rs398123992 pathogenic RCV000080661.3
DMD rs398123993 pathogenic RCV000080666.4
DMD rs398123995 pathogenic RCV000080668.3
DMD rs398123997 pathogenic RCV000080671.3
DMD rs398123998 pathogenic RCV000080672.3
DMD rs398123999 pathogenic RCV000080674.4
DMD rs398124000 pathogenic RCV000080676.3
DMD rs398124001 pathogenic RCV000080677.4
DMD rs398124002 pathogenic RCV000080679.4
DMD rs398124003 pathogenic RCV000080680.3
DMD rs398124004 pathogenic RCV000080684.4
DMD rs398124005 pathogenic RCV000080685.4
DMD rs398124007 pathogenic RCV000080687.3
DMD rs398124008 pathogenic RCV000080688.3
DMD rs398124011 pathogenic RCV000080696.3
DMD rs398124012 pathogenic RCV000080698.3
DMD rs398124013 pathogenic RCV000080699.3
DMD rs398124032 pathogenic RCV000080736.4
DMD rs398124033 pathogenic RCV000080738.3
DMD rs398124034 pathogenic RCV000080739.3
DMD rs398124035 pathogenic RCV000080741.3
DMD rs398124036 pathogenic RCV000080743.4
DMD rs398124037 pathogenic RCV000080744.3
DMD rs398124038 pathogenic RCV000080745.3
DMD rs398124039 pathogenic RCV000080746.3
DMD rs398124040 pathogenic RCV000080747.3
DMD rs398124042 pathogenic RCV000080751.4
DMD rs398124043 pathogenic RCV000080752.3
DMD rs398124044 pathogenic RCV000080753.4
DMD rs398124049 pathogenic RCV000080763.3
DMD rs398124050 pathogenic RCV000080765.4
DMD rs398124052 pathogenic RCV000080767.4
DMD rs398124053 pathogenic RCV000080768.4
DMD rs398124054 pathogenic RCV000080770.3
DMD rs398124055 pathogenic RCV000080771.3
DMD rs398124056 pathogenic RCV000080772.3
DMD rs398124057 pathogenic RCV000080773.3
DMD rs398124058 pathogenic RCV000080774.4
DMD rs398124059 pathogenic RCV000080775.3
DMD rs398124060 pathogenic RCV000080778.4
DMD rs398124061 pathogenic RCV000080779.3
DMD rs398124062 pathogenic RCV000080780.3
DMD rs398124068 pathogenic RCV000080795.3
DMD rs398124070 pathogenic RCV000080797.4
DMD rs398124072 pathogenic RCV000080800.3
DMD rs398124073 pathogenic RCV000080801.3
DMD rs398124074 pathogenic RCV000080803.4
DMD rs398124075 pathogenic RCV000080804.4
DMD rs398124076 pathogenic RCV000080808.3
DMD rs398124078 pathogenic RCV000080816.4
DMD rs398124080 pathogenic RCV000080821.4
DMD rs398124081 pathogenic RCV000080822.3
DMD rs398124082 pathogenic RCV000080823.3
DMD rs398124082 pathogenic RCV000152759.3
DMD rs398124084 pathogenic RCV000080825.3
DMD rs398124091 pathogenic RCV000080835.4
DMD rs398124092 pathogenic RCV000080837.4
DMD rs398124093 pathogenic RCV000080838.3
DMD rs398124094 pathogenic RCV000080839.4
DMD rs398124094 pathogenic RCV000080840.4
DMD rs398124096 pathogenic RCV000080843.4
DMD rs398124099 pathogenic RCV000080848.3
DMD rs398124100 pathogenic RCV000080854.4
DMD rs398124103 pathogenic RCV000080859.3
DMD rs398124104 pathogenic RCV000080861.3
DMD rs398124105 pathogenic RCV000080862.3
DMD rs398124106 pathogenic RCV000080863.4
DMD rs72468700 pathogenic RCV000080445.4
DMD rs727503802 pathogenic RCV000152768.3
DMD rs727503836 pathogenic RCV000152918.3
DMD rs727503844 pathogenic RCV000176399.1
DMD rs727503850 pathogenic RCV000152964.3
DMD rs727503858 pathogenic RCV000153001.3
DMD rs727503864 pathogenic RCV000153013.3
DMD rs754896795 pathogenic RCV000178665.1
DMD rs794726994 pathogenic RCV000173793.1
DMD rs794727357 pathogenic RCV000176297.1
DMD rs794727422 pathogenic RCV000176664.1
DMD rs794727661 pathogenic RCV000178435.1
DMD rs794727672 pathogenic RCV000178530.1
DMD rs794727862 pathogenic RCV000179870.1
DMD rs794727890 pathogenic RCV000180066.1

Additional Information:

Clinical Description OMIM Berko and Swift (1987) described a black family in which 11 young male members had definite or possible evidence of dilated cardiomyopathy. The 5 affected males for whom they had complete clinical data survived for 5 to 12 ...
Molecular genetics OMIM Muntoni et al. (1993) demonstrated that an X-linked form of dilated cardiomyopathy was due to deletion in the promoter region and first exon of the DMD gene (300377.0021). Milasin et al. (1996) reported an XLCM family with a ...