Cardiomyopathy, and Congenital cataract

Diseases related with Cardiomyopathy and Congenital cataract

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Congenital cataract that can help you solving undiagnosed cases.


Top matches:

Medium match MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B


Mitochondrial DNA depletion syndrome-12B is an autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged-red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al., 2012).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Cataract
  • Ptosis
  • Cognitive impairment
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1


Congenital muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) are characterized by early onset of muscle weakness, usually before ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; Godfrey et al., 2007). Congenital muscular dystrophy-dystroglycanopathies with or without mental retardation (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, {236670}), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (type C; see MDDGC1, {609308}). Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with or without Mental Retardation (Type B)Congenital muscular dystrophy with mental retardation due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGB2 (OMIM ), caused by mutation in the POMT2 gene (OMIM ); MDDGB3 (OMIM ), caused by mutation in the POMGNT1 gene (OMIM ); MDDGB4 (OMIM ), caused by mutation in the FKTN gene (OMIM ); MDDGB5 (OMIM ), caused by mutation in the FKRP gene (OMIM ); MDDGB6 (OMIM ), caused by mutation in the LARGE gene (OMIM ); and MDDGB14 (OMIM ), caused by mutation in the GMPPB gene (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1 Is also known as muscular dystrophy, congenital, pomt1-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1

Medium match PEROXISOME BIOGENESIS DISORDER 9B; PBD9B


While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1 ), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia (Braverman et al., 2002). In some cases this phenotype was indistinguishable from that of classic Refsum disease (OMIM ) and patients carried this diagnosis.Individuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see {214100}.

PEROXISOME BIOGENESIS DISORDER 9B; PBD9B Is also known as refsum disease, adult, 2|peroxisome biogenesis disorder, pex7-related, atypical

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 9B; PBD9B

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Other less relevant matches:

Medium match OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME


Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

Medium match COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY


COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY Is also known as col4a1-related brain small vessel disease with hemorrhage|leukoencephalopathy with axenfeld-rieger anomaly|brain small vessel disease with axenfeld-rieger anomaly|brain small vessel disease with hemorrhage|infantile hemiparesis|retinal arteriolar tortuosi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

Medium match CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME


Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME Is also known as mtdps10|sengers syndrome|cardiomyopathy and cataract|mitochondrial dna depletion syndrome 10 (cardiomyopathic type)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME

Medium match SCHINDLER DISEASE, TYPE I


Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (OMIM ), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).

SCHINDLER DISEASE, TYPE I Is also known as neuroaxonal dystrophy, schindler type|naga deficiency, type i|alpha-n-acetylgalactosaminidase deficiency, type i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHINDLER DISEASE, TYPE I

Medium match CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME


Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Medium match ISOLATED COMPLEX III DEFICIENCY


Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).

ISOLATED COMPLEX III DEFICIENCY Is also known as isolated coq-cytochrome c reductase deficiency|isolated ubiquinone-cytochrome c reductase deficiency|isolated mitochondrial respiratory chain complex iii deficiency|isolated coenzyme q-cytochrome c reductase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED COMPLEX III DEFICIENCY

Medium match CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE


Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Congenital cataract

Symptoms // Phenotype % cases
Cataract Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Congenital cataract. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hypertrophic cardiomyopathy

Uncommon Symptoms - Between 30% and 50% cases


Nystagmus Muscle weakness Myopia Cerebellar hypoplasia Respiratory distress Muscular hypotonia Hearing impairment Strabismus Intellectual disability, severe Cognitive impairment Spasticity Peripheral neuropathy Scoliosis Microcephaly Skeletal muscle atrophy Hyperreflexia Ataxia Growth delay Glaucoma Abnormality of the cerebral white matter Blindness Retinopathy Failure to thrive Optic atrophy Generalized amyotrophy Muscular hypotonia of the trunk Increased serum lactate Tetraplegia Visual impairment Cerebellar atrophy Microphthalmia Exercise intolerance Elevated serum creatine phosphokinase Lactic acidosis Flexion contracture Acidosis Motor delay Generalized muscle weakness Myopathy Ragged-red muscle fibers

Rare Symptoms - Less than 30% cases


Polymicrogyria Hypoplasia of the brainstem Tetraparesis Elevated hepatic transaminase Feeding difficulties in infancy Esotropia Delayed speech and language development Aciduria Pachygyria Decreased liver function Abnormality of mitochondrial metabolism Feeding difficulties Fatigue Depressivity Headache Thrombocytopenia EEG abnormality Hemiparesis Severe global developmental delay Retinal detachment Lissencephaly Respiratory insufficiency Spastic tetraparesis Dilatation Hypermetropia Corneal opacity Stroke Osteopenia Dementia Abnormal facial shape Dysphonia Muscular dystrophy Micrognathia Autism Developmental regression Hypertonia Ventriculomegaly Mitochondrial myopathy Cardiomegaly Skeletal dysplasia Rod-cone dystrophy Coarse facial features Congenital muscular dystrophy Cerebral visual impairment Facial palsy Visual loss Congestive heart failure Skeletal myopathy Sensorineural hearing impairment Cerebellar dysplasia Apnea Absent speech Inability to walk Hepatomegaly Cerebral cortical atrophy Vomiting Hepatic failure Low-set ears Hypertrichosis Oligosacchariduria Pigmentary retinopathy Delayed myelination Coma Metabolic acidosis Sensory neuropathy Small for gestational age Cerebral atrophy Hypoglycemia Congenital microcephaly Thoracic hemivertebrae Hypertelorism Epicanthus Petechiae Encephalopathy Increased CSF protein Increased urinary O-linked sialopeptides Short stature High palate Anemia Neuronal loss in central nervous system Cephalocele Renal insufficiency Jaundice Hepatosplenomegaly Long philtrum Abnormality of the liver Skin rash Generalized tonic-clonic seizures Abnormality of movement Gliosis Hallucinations Purpura Cerebral calcification Sloping forehead Splenomegaly Intellectual disability, profound Status epilepticus Anteverted nares Postnatal microcephaly Fever Opacification of the corneal stroma Microretrognathia Micropenis Cholestasis Hypoglycosylation of alpha-dystroglycan Aminoaciduria Preauricular skin tag Hemivertebrae EMG abnormality Type II lissencephaly Congenital hip dislocation Bradycardia Exaggerated startle response Encephalocele Holoprosencephaly Cerebellar vermis hypoplasia Brain atrophy Abnormal cerebellum morphology Pulmonic stenosis Arthrogryposis multiplex congenita Dolichocephaly Knee flexion contracture Plagiocephaly Hip dislocation Weak cry Myocardial fibrosis Retinal dysplasia Ankle contracture Anencephaly Buphthalmos Atrophy/Degeneration affecting the brainstem Transposition of the great arteries Aplasia/Hypoplasia of the corpus callosum Spinal rigidity Cortical dysplasia Multiple joint contractures Calf muscle hypertrophy Increased variability in muscle fiber diameter Skeletal muscle hypertrophy Mask-like facies Dilated cardiomyopathy Camptodactyly of finger Severe muscular hypotonia Hyperphosphaturia Food intolerance Abnormality of the abdominal wall Microvesicular hepatic steatosis Hyperechogenic kidneys Proximal tubulopathy Cholangitis Tubulointerstitial nephritis Mitochondrial encephalopathy Myoglobinuria Rhabdomyolysis Glycosuria Abnormality of the coagulation cascade Emotional lability Nephritis Brittle hair Histiocytoid cardiomyopathy Persistent lactic acidosis Abnormality of the pinna Pectus excavatum Neonatal hypotonia Rigidity Brachycephaly Agenesis of corpus callosum Cerebellar cyst Areflexia Angiokeratoma corporis diffusum Decreased mitochondrial complex III activity in liver tissue Agyria Atrial septal defect Hydrocephalus Gait disturbance Macrocephaly Intrauterine growth retardation Postterm pregnancy Long-tract signs Pulmonary arterial hypertension Progressive psychomotor deterioration Abnormality of the nervous system Mandibular prognathia High forehead Deeply set eye Pectus carinatum Delayed puberty Abnormality of the foot Peripheral axonal neuropathy Long face Distal amyotrophy Hip dysplasia Absence seizures Optic nerve hypoplasia Dysarthria Intellectual disability, mild Astigmatism Upslanted palpebral fissure Tachycardia Hematuria Nephropathy Hypopigmentation of the skin Microcornea Renal cyst Muscle cramps Migraine Spastic tetraplegia Amblyopia Paraparesis Spastic paraparesis Leukoencephalopathy Intracranial hemorrhage Gait ataxia Delayed skeletal maturation Cerebral hemorrhage Autistic behavior Ptosis Dysphagia Obesity Myalgia Ophthalmoplegia External ophthalmoplegia Gowers sign Hypoplasia of the corpus callosum Retinal dystrophy Macroglossia Limb-girdle muscular dystrophy Enlarged cisterna magna Arrhythmia Pes cavus Nyctalopia Short nose Ichthyosis Polyneuropathy Progressive visual loss Rhizomelia Sensorimotor neuropathy Anosmia Hammertoe Distal lower limb amyotrophy Short 5th metacarpal Calcific stippling Polyneuritis Elevated levels of phytanic acid Frontal bossing Abnormality of the skeletal system Hemiplegia Blurred vision Angiokeratoma Abnormal muscle fiber protein expression Recurrent upper respiratory tract infections Abnormal electroretinogram Premature ovarian insufficiency Meningocele Cardiorespiratory arrest Right ventricular hypertrophy Organic aciduria 3-Methylglutaconic aciduria Abnormal myelination Decreased activity of mitochondrial respiratory chain Fatty replacement of skeletal muscle Inferior vermis hypoplasia Infantile axial hypotonia Exercise-induced lactic acidemia Depletion of mitochondrial DNA in muscle tissue Eosinophilia Constipation Myoclonus Gastroesophageal reflux Vertigo Thick vermilion border Generalized myoclonic seizures Generalized-onset seizure Lymphedema Clonus Recurrent pneumonia Vegetative state Psychomotor deterioration Diffuse white matter abnormalities Vascular skin abnormality Easy fatigability Tachypnea Congenital glaucoma Neuritis Scotoma Infantile spasms Posterior embryotoxon Hypoplasia of the iris Increased intraocular pressure Ectopia pupillae Supraventricular tachycardia Corneal neovascularization Anterior segment developmental abnormality Anterior synechiae of the anterior chamber Hypopigmentation of the fundus Porencephalic cyst Migraine with aura Retinal hemorrhage Arterial tortuosity Corneal dystrophy Retinal arterial tortuosity Cardiac arrest Mental deterioration Dyspnea Hypertension Thalamic hemorrhage Posterior leukoencephalopathy Right hemiplegia Rieger anomaly Peripapillary atrophy Retinal arteriolar tortuosity Optic neuritis Diffuse leukoencephalopathy Perivascular spaces Polycoria Hypoplasia of the pyramidal tract



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