Cardiomyopathy, and Retinopathy

Diseases related with Cardiomyopathy and Retinopathy

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


Top matches:

Low match TAKAYASU ARTERITIS


Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

TAKAYASU ARTERITIS Is also known as young female arteritis|aortic arch syndrome|pulseless disease

Related symptoms:

  • Seizures
  • Muscle weakness
  • Anemia
  • Hypertension
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about TAKAYASU ARTERITIS

Low match SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1


Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.

SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1 Is also known as symptomatic form of hfe-related hereditary hemochromatosis|symptomatic form of classic hemochromatosis

Related symptoms:

  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1

Low 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:

Low match GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY


Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY Is also known as vacuolar cardiomyopathy and myopathy, x-linked|antopol disease|gsd due to lamp-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogenosis due to lamp-2 deficiency|gsd2b, formerly|gsd iib, formerly|glycogen stora

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Pain
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY

Low match MATERNALLY-INHERITED DIABETES AND DEAFNESS


Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome|diabetes-deafness syndrome, maternally transmitted|mitochondrial diabetes|noninsulin-dependent diabetes mellitus with deafness|niddm with deafness|diabetes mellitus, type ii, with deafness|midd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

Low match REFSUM DISEASE


Refsum disease (RD) is a very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.

REFSUM DISEASE Is also known as hmsn 4|phytanic-coa hydroxylase deficiency|heredopathia atactica polyneuritiformis|classic refsum disease|hereditary motor and sensory neuropathy type 4|adult refsum disease

Related symptoms:

  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscular hypotonia
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about REFSUM DISEASE

Low match MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD


The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death (SIDS ), infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy (Spiekerkoetter et al., 2003).Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. These patients tend to survive into adolescence and adulthood (den Boer et al., 2003).See also isolated LCHAD deficiency (OMIM ), which is caused by mutation in the HADHA gene.

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD Is also known as trifunctional protein deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD

Low match NARP SYNDROME


Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.

NARP SYNDROME Is also known as neuropathy-ataxia-retinitis pigmentosa syndrome|neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome|narp syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NARP SYNDROME

Low 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

Low match LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY


Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.

LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lchad deficiency|long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency|lchadd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Retinopathy

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Congestive heart failure Common - Between 50% and 80% cases
Visual impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Hypertrophic cardiomyopathy Muscle weakness Pigmentary retinopathy Myopathy Visual loss Ataxia Pain Nyctalopia Hypertension Arrhythmia Hearing impairment Cataract Dilatation Hepatic steatosis Dysarthria Renal insufficiency Hepatomegaly Decreased liver function Elevated serum creatine phosphokinase Dilated cardiomyopathy Abnormality of the liver Muscular hypotonia Sensorineural hearing impairment Respiratory distress Pes cavus Respiratory insufficiency Myopia Nystagmus Progressive visual loss Myalgia Vomiting Generalized hypotonia Fatigue Muscle cramps

Rare Symptoms - Less than 30% cases


Microphthalmia Generalized muscle weakness Peripheral axonal neuropathy Hypopigmentation of the skin Lactic acidosis Hepatic failure Metabolic acidosis Coma Depressivity Rhabdomyolysis Tachypnea Abnormality of the eye Hypoketotic hypoglycemia Acute hepatic steatosis Skeletal muscle atrophy Strabismus Headache Dementia Hammertoe Anosmia Proximal muscle weakness Hypoglycemia Elevated hepatic transaminase Failure to thrive Abnormality of metabolism/homeostasis Developmental regression Retinal arteriolar tortuosity Abnormality of retinal pigmentation Heart block Sensorimotor neuropathy Constriction of peripheral visual field Infantile spasms Ophthalmoplegia Optic atrophy Intellectual disability, severe Feeding difficulties Ventriculomegaly Ptosis Retinal pigment epithelial mottling Skeletal myopathy Abnormal retinal morphology Abnormal electroretinogram Cardiac arrest Acidosis Distal sensory impairment External ophthalmoplegia Abnormal chorioretinal morphology Diabetes mellitus Skeletal dysplasia Arthralgia Splenomegaly Reduced consciousness/confusion Cognitive impairment Anorexia Blindness Rod-cone dystrophy Vertigo Ichthyosis Chest pain Polyneuropathy Migraine Congenital cataract Sensory axonal neuropathy Fever Myoclonic spasms Breathing dysregulation Progressive gait ataxia Asymmetric septal hypertrophy Progressive external ophthalmoplegia Hyperhidrosis Abnormal basal ganglia MRI signal intensity Mitochondrial myopathy Hyperventilation Necrotizing encephalopathy Intellectual disability, mild Abnormal mitochondria in muscle tissue Abnormal visual field test Corticospinal tract atrophy Microcephaly Cerebellar atrophy Poor suck Glaucoma Abnormality of the nervous system Facial palsy Stroke Corneal opacity Abnormality of the cerebral white matter Hypermetropia Astigmatism Oral-pharyngeal dysphagia Sensory neuropathy Hyperkinesis Babinski sign Progressive peripheral neuropathy Abnormality of the amniotic fluid Recurrent myoglobinuria Prenatal maternal abnormality Exercise-induced rhabdomyolysis Neurological speech impairment Respiratory failure requiring assisted ventilation Short stature Arthritis Spasticity Tremor Dysphagia Dystonia Encephalopathy Weight loss Involuntary movements Cerebral cortical atrophy Gait ataxia Dyspnea Anxiety Apnea Irritability Pallor Paralysis Paresthesia Hematuria Neurodegeneration Chorea Overgrowth Optic disc pallor Tachycardia Rhizomelia Nephropathy Exotropia Optic neuritis Peripapillary atrophy Right hemiplegia Retinal arterial tortuosity Posterior leukoencephalopathy Thalamic hemorrhage Macrocephaly Abdominal pain Jaundice Photophobia Nausea Retinal dystrophy Brain atrophy Peripheral demyelination Hypocalcemia Perivascular spaces Hepatic encephalopathy Abnormality of acid-base homeostasis Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Posterior staphyloma Reye syndrome-like episodes Elevated plasma acylcarnitine levels Gastrointestinal inflammation Abnormal left ventricle morphology Loss of consciousness Decreased plasma carnitine Cholestatic liver disease Recurrent hypoglycemia Preeclampsia Multiple lipomas Chorioretinal atrophy Diffuse leukoencephalopathy Polycoria Retinal detachment Blurred vision Anemia Microcornea Renal cyst Tetraplegia Spastic tetraplegia Hemiparesis Amblyopia Paraparesis Spastic paraparesis Leukoencephalopathy Dysphonia Intracranial hemorrhage Hemiplegia Cerebral hemorrhage Congenital glaucoma Rieger anomaly Anterior synechiae of the anterior chamber Arterial tortuosity Neuritis Retinal hemorrhage Migraine with aura Porencephalic cyst Hypopigmentation of the fundus Anterior segment developmental abnormality Scotoma Corneal neovascularization Supraventricular tachycardia Ectopia pupillae Increased intraocular pressure Hypoplasia of the iris Posterior embryotoxon Hypoparathyroidism Hypotension Myoglobinuria Myofibrillar myopathy Cone/cone-rod dystrophy EMG: myopathic abnormalities Ventricular arrhythmia Gynecomastia Back pain Neurodevelopmental delay Generalized amyotrophy Hyperpigmentation of the skin Hypokinesia Cardiorespiratory arrest Abnormality of the gastrointestinal tract Reduced ejection fraction Wolff-Parkinson-White syndrome Myocardial fibrosis Cholestasis Ventricular tachycardia Autophagic vacuoles Muscle flaccidity Limitation of joint mobility Exercise-induced muscle cramps Impaired myocardial contractility Ventricular preexcitation Myocardial necrosis Left ventricular systolic dysfunction Macular hypopigmentation Suicidal ideation Increased cerebral lipofuscin Glycogen accumulation in muscle fiber lysosomes Ascites Cirrhosis Respiratory insufficiency due to muscle weakness Hyperlipidemia Proteinuria Mental deterioration Distal lower limb amyotrophy Short 5th metacarpal Calcific stippling Polyneuritis Elevated levels of phytanic acid Autistic behavior Autism Gait disturbance Flexion contracture Growth delay Hyperactivity Reduced visual acuity Abnormality of the hypothalamus-pituitary axis Chondrocalcinosis Increased serum ferritin Exercise intolerance Scarring Exocrine pancreatic insufficiency Limb muscle weakness Distal amyotrophy Hepatocellular carcinoma Arthropathy Cardiomegaly Psychosis Ventricular hypertrophy Atrial fibrillation Palpitations Left ventricular hypertrophy Impotence Joint dislocation Constipation Abnormality of the kidney Tricuspid regurgitation Abnormal heart valve morphology Hemiplegia/hemiparesis Arterial stenosis Miosis Abnormal pattern of respiration Inflammatory abnormality of the eye Abnormal aortic valve morphology Edema Cerebral ischemia Hyporeflexia Recurrent respiratory infections Respiratory failure Gangrene Difficulty walking Hemoptysis Respiratory tract infection Ascending tubular aorta aneurysm Distal muscle weakness Small for gestational age Lethargy Psoriasiform dermatitis Aortic regurgitation Vasculitis Skin ulcer Subcutaneous nodule Myocardial infarction Sensory impairment Hydrops fetalis Pulmonary arterial hypertension Hyperammonemia Decreased nerve conduction velocity Abnormality of vision Abnormality of epiphysis morphology Hypogonadism Progressive sensorineural hearing impairment Malabsorption Unsteady gait Retinal degeneration Bilateral sensorineural hearing impairment Type II diabetes mellitus Pancytopenia Osteoporosis Ragged-red muscle fibers Alopecia Aplasia/Hypoplasia of the cerebellum Hyperglycemia Bundle branch block Vestibular dysfunction Macular dystrophy Glomerulopathy Nail dysplasia Retinal atrophy Abnormality of lipid metabolism Left bundle branch block Increased inflammatory response Hypertensive crisis Arteritis Gastrointestinal infarctions Amaurosis fugax Abnormal endocardium morphology Abnormal pyramidal sign Abnormality of eye movement Abnormality of the foot Dry skin Short metacarpal 3-hydroxydicarboxylic aciduria



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