Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation

General Information (adopted from Orphanet):

Synonyms, Signs: Hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation
Number of Symptoms 32
OrphanetNr: 324525
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.1 of 100 000
Inheritance: Mitochondrial
15356973 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Mitochondrial disease with hypertrophic cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease
Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Primary renal tubular acidosis
 -Rare genetic disease
 -Rare renal disease

Comment:

Mitochondrial cytopathies are often associated with hypertrophic cardiomyopathy but rarely with renal disease. Among the few reported cases with associated renal disease, most included renal tubular disorders; few cases with focal glomerular sclerosis are known (PMID:9845835). The point mutation A --> G at position 3243 in the mitochondrial tRNAleu(UUR) gene (MT-TL1) is the cause of several distinct types of mitochondrial cytopathy and several clinical phenotypes. This mutation, usually a typical point mutation for MELAS, has also been described in association with kidney disease, mainly focal and segmental glomerulosclerosis. Clinical features were short stature, severe headache, hearing loss, diabetes mellitus and hypertrophic cardiomyopathy. The main histological finding was an increased number of abnormal mitochondria in tubular cells and podocytes (PMID:15356973). Involved genes: MT-TL1 (PMID:15356973);

Symptom Information: Sort by abundance 

1
 (HPO:0002202) Pleural effusion 9845835 IBIS 22 / 7739
2
 (HPO:0002094) Dyspnea 9845835 IBIS 132 / 7739
3
 (HPO:0004322) Short stature 15356973 IBIS 1232 / 7739
4
 (HPO:0001640) Cardiomegaly 9845835 IBIS 81 / 7739
5
 (HPO:0001712) Left ventricular hypertrophy 9845835 IBIS 76 / 7739
6
 (HPO:0001639) Hypertrophic cardiomyopathy 15356973 IBIS 137 / 7739
7
 (HPO:0008322) Abnormal mitochondrial morphology 9845835 IBIS 8 / 7739
8
 (HPO:0012102) Abnormal mitochondrial number 15356973 IBIS 4 / 7739
9
 (HPO:0012087) Abnormal mitochondrial shape 9845835 IBIS 8 / 7739
10
 (HPO:0001903) Anemia 9845835 IBIS 289 / 7739
11
 (HPO:0012398) Peripheral edema 9845835 IBIS 12 / 7739
12
 (HPO:0003200) Ragged-red muscle fibers 9845835 IBIS 37 / 7739
13
 (HPO:0002490) Increased CSF lactate 9845835 IBIS 28 / 7739
14
 (HPO:0002315) Headache 15356973 IBIS 175 / 7739
15
 (HPO:0002240) Hepatomegaly 9845835 IBIS 467 / 7739
16
 (HPO:0000407) Sensorineural hearing impairment 9845835 IBIS 524 / 7739
17
 (HPO:0000077) Abnormality of the kidney 15356973 IBIS 73 / 7739
18
 (HPO:0100820) Glomerulopathy 15356973 IBIS 46 / 7739
19
 (HPO:0000097) Focal segmental glomerulosclerosis 15356973 IBIS 37 / 7739
20
 (HPO:0004737) Global glomerulosclerosis 9845835 IBIS 3 / 7739
21
 (HPO:0000092) Tubular atrophy 9845835 IBIS 28 / 7739
22
 (HPO:0005576) Tubulointerstitial fibrosis 9845835 IBIS 32 / 7739
23
 (HPO:0012211) Abnormal renal physiology 9845835 IBIS 23 / 7739
24
 (HPO:0000790) Hematuria 9845835 IBIS 106 / 7739
25
 (HPO:0000112) Nephropathy 15356973 IBIS 92 / 7739
26
 (MedDRA:10038536) Renal tubular atrophy 9845835 IBIS 1 / 7739
27
 (HPO:0000083) Renal insufficiency 15356973 IBIS 232 / 7739
28
 (HPO:0000093) Proteinuria 15356973 IBIS 169 / 7739
29
 (HPO:0000819) Diabetes mellitus 15356973 IBIS 131 / 7739
30
 (HPO:0000365) Hearing impairment 15356973 IBIS 539 / 7739
31
 (MedDRA:10050029) Mitochondrial cytopathy 9845835 IBIS 1 / 7739
32
 (OMIM) Muscle biopsy shows mitochondrial paracrystalline inclusions 9845835 IBIS 2 / 7739

Associated genes:

MT-TL1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: