Cardiomyopathy, dilated, 1GG

General Information (adopted from Orphanet):

Synonyms, Signs: CMD1GG
Number of Symptoms 6
OrphanetNr:
OMIM Id: 613642
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 15 cases - PMID: 20551992 [IBIS]
Inheritance: Autosomal recessive
Monogenic
- PMID: 20551992 [IBIS]
Age of onset: Neonatal
Childhood
- PMID: 20551992 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, dilated, 1GG is caused by mutation in SDHA (PMID:20551992).

Symptom Information: Sort by abundance 

1
(HPO:0011664) Left ventricular noncompaction cardiomyopathy 20551992 IBIS 10 / 7739
2
(HPO:0001712) Left ventricular hypertrophy 20551992 IBIS 76 / 7739
3
(HPO:0001644) Dilated cardiomyopathy 20551992 IBIS 141 / 7739
4
(HPO:0008314) Decreased activity of mitochondrial complex II 20551992 IBIS 7 / 7739
5
(HPO:0011923) Decreased activity of mitochondrial complex I 20551992 IBIS 35 / 7739
6
(OMIM) Left ventricular dilation, mild 20551992 IBIS 2 / 7739

Associated genes:

SDHA;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
SDHA rs137852768 pathogenic RCV000009286.3

Additional Information:

Clinical Description OMIM Levitas et al. (2010) studied 15 Bedouin patients from a single tribe who presented with dilated cardiomyopathy (CMD) between the ages of 32 weeks' gestation and 10 years. Electrocardiography showed sinus rhythm with left ventricular hypertrophy and normal ...
Molecular genetics OMIM In 15 Bedouin patients from a single tribe with neonatal dilated cardiomyopathy, Levitas et al. (2010) analyzed the candidate gene SDHA and identified homozygosity for a missense mutation (600857.0004).