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MTDPS10
MCID: SNG007
MIFTS: 36
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Sengers Syndrome (MTDPS10)
Categories:
Genetic diseases, Metabolic diseases, Rare diseases
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MalaCards integrated aliases for Sengers Syndrome:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy variable severity high risk of death in infancy due to cardiac failure HPO:32
sengers syndrome:
Onset and clinical course variable expressivity infantile onset Inheritance autosomal recessive inheritance Classifications: |
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NIH Rare Diseases
:
53
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1369Disease definitionCongenitalcataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.EpidemiologyPrevalence of CCM is unknown; approximately 40 cases have been reported to date in disparate locations throughout the world.Clinical descriptionClinical features include congenital cataract (total or rapidly progressive), hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. CCM may present in two forms, a neonatal lethal form or a chronic form. Hypertrophic cardiomyopathy is diagnosed at birth in half of the patients in both forms. Approximately half of the patients die within the first year of life due to cardiac failure. Nystagmus, strabismus, hypotonia, hyporeflexia and delayed motor development are occasional features. Marked lactic acidemia occurs with even limited muscular exertion. Patients who survive neonatal period and infancy, manifest the chronic form with stable cardiomyopathy and myopathy and have a normal intellect. Physical mobility is impaired due to muscular weakness in most patients.EtiologyIn the majority of CCM patients mutations (nonsense, frame-shift, start codon or splice site) in the AGK gene have been identified. The AGK gene encodes the mitochondrial acylglycerol kinase which plays a role in the assembly of adeninenucleotide translocator (ANT), an essential component of the oxidative phosphorylation in mitochondria. Two patients with distinct autosomal recessiveSLC25A4 mutations have been reported (one of whom had cardiomyopathy but not cataract). The SLC25A4 gene encodes the heart and muscle specific isoform 1 of the mitochondrial ANT. The etiology remains genetically unsolved in the rest of cases of CCM. The milder affected individuals carried either splice site or start codon mutations.Diagnostic methodsDiagnostic procedures include serum and urine analysis for lactic acid, radiology and echocardiogram for findings of cardiomyopathy. Muscle biopsy from cardiac and skeletal muscle reveals storage of lipid and glycogen, mitochondrial abnormalities, ANT deficiency and mild decrease of respiratory chain complexes I and IV. Genetic testing may reveal autosomal recessive mutations in AGK and SLC25A4 and it should be considered early in diagnostic workup.Differential diagnosisDifferential diagnoses include mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency, isolated ATP synthase deficiency and Barth syndrome (see these terms).Antenatal diagnosisPrenatal genetic testing may be possible for families with affected children.Genetic counselingThe reported mutations are transmitted in an autosomal recessive manner.Management and treatmentCCM patients require cataract surgery during infancy and medical management of cardiomyopathy with standard therapy. Patients may require palliative care and a wheelchair for locomotion.PrognosisApproximately half of the reported patients die in the first year of life due to cardiac failure. The longest surviving patients are in their fifth decade of life.Visit the Orphanet disease page for more resources.
MalaCards based summary : Sengers Syndrome, also known as cataract and cardiomyopathy, is related to congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome and encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts, and has symptoms including muscle weakness and fatigue. An important gene associated with Sengers Syndrome is AGK (Acylglycerol Kinase). Affiliated tissues include skeletal muscle, heart and testes, and related phenotypes are nystagmus and muscular hypotonia OMIM : 57 Sengers syndrome is an autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Mental development is normal, but affected individuals may die early from cardiomyopathy (summary by Mayr et al., 2012). Skeletal muscle biopsies of 2 affected individuals showed severe mtDNA depletion (Calvo et al., 2012). (212350) UniProtKB/Swiss-Prot : 75 Mitochondrial DNA depletion syndrome 10: An autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Mental development is normal, but affected individuals may die early from cardiomyopathy. Wikipedia : 76 Sengers syndrome is a rare autosomal recessive condition characterised by congenital cataract,... more... |
Diseases related to Sengers Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Sengers Syndrome:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:212350Human phenotypes related to Sengers Syndrome:32 (show all 21)
UMLS symptoms related to Sengers Syndrome:muscle weakness, fatigue GenomeRNAi Phenotypes related to Sengers Syndrome according to GeneCards Suite gene sharing:26 (show all 16)
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MalaCards organs/tissues related to Sengers Syndrome:41
Skeletal Muscle,
Heart,
Testes,
Liver
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Articles related to Sengers Syndrome:(show all 13)
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Genes related to Sengers Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Sengers Syndrome:6 (show top 50) (show all 119)
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Search
GEO
for disease gene expression data for Sengers Syndrome.
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Cellular components related to Sengers Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Sengers Syndrome according to GeneCards Suite gene sharing:
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