Congestive heart failure, and Myopia

Diseases related with Congestive heart failure and Myopia

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Myopia that can help you solving undiagnosed cases.


Top matches:

Medium 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

Medium match SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME


Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).

SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME Is also known as saddan|saddan dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME

Medium match CHAR SYNDROME


Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

CHAR SYNDROME Is also known as patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHAR SYNDROME

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Other less relevant matches:

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 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

Medium match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Medium match PSEUDOXANTHOMA ELASTICUM


Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

Related symptoms:

  • Scoliosis
  • Growth delay
  • High palate
  • Visual impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

Medium match ARTERIAL TORTUOSITY SYNDROME


Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

Medium match SINGLETON-MERTEN DYSPLASIA


Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).

SINGLETON-MERTEN DYSPLASIA Is also known as singleton-merten syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SINGLETON-MERTEN DYSPLASIA

Medium match TEMTAMY SYNDROME


Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

Top 5 symptoms//phenotypes associated to Congestive heart failure and Myopia

Symptoms // Phenotype % cases
Hypertension 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
Muscular hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Myopia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Muscle weakness Hearing impairment Visual loss Hypertrophic cardiomyopathy Cardiomyopathy Respiratory distress Growth delay Hip dislocation Seizures Ptosis Abnormal facial shape Joint hyperflexibility Cardiac arrest Clinodactyly of the 5th finger Abnormal electroretinogram Cardiorespiratory arrest Strabismus Redundant skin Dilatation Short stature Scoliosis Talipes equinovarus Craniosynostosis Depressed nasal bridge Broad forehead Malar flattening Myopathy Mental deterioration Fatigue Cataract Macrocephaly Glaucoma Retinopathy Nystagmus Visual impairment Dilated cardiomyopathy Pain

Rare Symptoms - Less than 30% cases


Sensorineural hearing impairment Brain atrophy Lumbar hyperlordosis Generalized muscle weakness Pulmonary arterial hypertension Long face Highly arched eyebrow Micromelia Platyspondyly Rhizomelia Aortic aneurysm Skeletal dysplasia Gastroesophageal reflux Tachypnea Coxa valga Respiratory failure Severe short stature Esotropia Osteopenia Exotropia Intellectual disability, mild Chorioretinal atrophy Multiple lipomas Polydactyly Patent ductus arteriosus Abnormality of cardiovascular system morphology Kyphosis Long philtrum Short nose Ventricular septal defect Sleep apnea Downslanted palpebral fissures Low-set ears Failure to thrive Telangiectasia of the skin Posterior staphyloma Dyspnea Arterial stenosis Stroke Midface retrusion High myopia Intellectual disability, severe Scarring Back pain Coxa vara Genu varum Exercise intolerance Decreased liver function Bowing of the legs Cardiomegaly Pigmentary retinopathy Abnormality of the liver Waddling gait Reduced visual acuity Pes cavus Elevated serum creatine phosphokinase Arrhythmia Respiratory insufficiency Gait disturbance Skeletal muscle atrophy Hepatomegaly Abnormal retinal morphology Progressive visual loss Myocardial infarction Skeletal myopathy Hypoplasia of the corpus callosum Frontal bossing Genu valgum Hyperextensible skin Arterial calcification Intrauterine growth retardation Edema Macular degeneration Localized skin lesion Hyperkeratotic papule Nephrocalcinosis Vascular calcification Subcutaneous calcification High palate Accelerated atherosclerosis Civatte bodies Abnormality of connective tissue Renovascular hypertension Metamorphopsia Angioid streaks of the fundus Intermittent claudication Retinal hemorrhage Atherosclerosis Hemiplegia/hemiparesis Generalized arterial calcification Medial calcification of medium-sized arteries Blepharophimosis Macrotia Limitation of knee mobility Inguinal hernia Abnormality of the thorax Medial calcification of small arteries Abnormal atrioventricular valve morphology Intracranial hemorrhage Premature occlusive vascular stenosis Medial calcification of large arteries Delayed calcaneal ossification Erythematous papule Subretinal fluid Ischemic stroke Cutis laxa Peau d'orange Peripapillary chorioretinal atrophy Choroidal neovascularization Abnormal endocardium morphology Pulmonary insufficiency Ectopic calcification Abnormality of the mouth Mitral stenosis Blue sclerae Bruising susceptibility Postural instability Mitral valve prolapse Sudden cardiac death Drusen Thickened nuchal skin fold Severe intrauterine growth retardation Abnormality of the cerebral vasculature Severe vision loss Striae distensae Gastrointestinal hemorrhage Hypermelanotic macule Coronary artery atherosclerosis Abnormality of the cardiovascular system Abnormality of the skin Cutis marmorata Abnormality of skin pigmentation Mitral regurgitation Cerebral calcification Restrictive cardiomyopathy Excessive wrinkled skin Arteriosclerosis Blindness Pulmonary edema Renal insufficiency Abnormal mitral valve morphology Abnormal thrombocyte morphology Redundant neck skin Hypothyroidism Subcutaneous nodule Acne Tricuspid regurgitation Lack of skin elasticity Skin rash Small for gestational age Angina pectoris Papule Peripheral arterial stenosis Pruritus Arachnodactyly Hypoplasia of the maxilla Hip dysplasia Abnormal heart morphology Corneal opacity Coloboma Intellectual disability, moderate Telecanthus Hydronephrosis Pes planus Coarse facial features Autism Gait ataxia Agenesis of corpus callosum Absent speech Facial asymmetry Microphthalmia Atrial septal defect Ventriculomegaly Abnormality of the skeletal system Optic atrophy Brachydactyly Spasticity Micrognathia Expanded phalanges with widened medullary cavities Expanded metacarpals with widened medullary cavities Hypoplastic distal radial epiphyses Dolichocephaly Iris coloboma Aortic arch calcification Relative macrocephaly Scleral staphyloma Lop ear Lens luxation Short upper lip Colpocephaly Profound global developmental delay Hypoplasia of teeth Neurogenic bladder Congenital nystagmus Unilateral renal agenesis Chorioretinal coloboma Aplasia/Hypoplasia of the corpus callosum Microcornea Abnormal palate morphology Aortic regurgitation Short chin Short toe Dental crowding Thick lower lip vermilion Intellectual disability, profound Bilateral sensorineural hearing impairment Convex nasal ridge Renal agenesis Prominent nose Expanded metatarsals with widened medullary cavities Hypoplasia of the tooth germ Specific learning disability Abnormal myocardium morphology Recurrent infections Abnormality of the dentition Anemia Abnormality of the zygomatic bone Abnormal carotid artery morphology Keratoglobus Long palm Median cleft lip and palate Femoral hernia Avascular necrosis of the capital femoral epiphysis Myocarditis Osteoporosis Esophagitis Aortic dissection Hiatus hernia Pulmonary artery stenosis Aortic root aneurysm Prematurely aged appearance Keratoconus Rocker bottom foot Pyloric stenosis Thin skin Short palpebral fissure Recurrent respiratory infections Thin upper lip vermilion Tendon rupture High anterior hairline Dentinogenesis imperfecta limited to primary teeth Unerupted tooth Premature loss of permanent teeth Mitral valve calcification Hip subluxation Aortic valve calcification Shallow acetabular fossae Muscle fiber atrophy Subvalvular aortic stenosis Onycholysis Osteolytic defects of the phalanges of the hand Periodontitis Joint laxity Heart block Epiphora Psoriasiform dermatitis Scaling skin Osteolysis Aortic valve stenosis Decreased body weight Cutaneous photosensitivity Sciatica Smooth philtrum Carious teeth Neonatal short-trunk short stature Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Delayed pubic bone ossification Clinodactyly Broad nasal tip Hypodontia Sleep disturbance Everted lower lip vermilion Thick vermilion border Thick eyebrow Toe syndactyly Short philtrum Protruding ear High forehead Syndactyly Coarctation of aorta Anteverted nares Wide nasal bridge Enlarged cerebellum Aplasia/Hypoplasia of the mandible Fibular bowing Metaphyseal chondrodysplasia Cloverleaf skull Central apnea Megalencephaly Abnormality of the clavicle Premature birth Depressed nasal ridge Femoral bowing Muscular ventricular septal defect Congenital cataract Feeding difficulties in infancy Acidosis Cerebellar hypoplasia Thrombocytopenia Headache Motor delay Distal/middle symphalangism of 5th finger Mesoaxial foot polydactyly Symphalangism of the 5th finger Parasomnia Finger clinodactyly No permanent dentition Mesoaxial hand polydactyly Triangular mouth Persistence of primary teeth Short middle phalanx of the 5th finger Prominent occiput Supernumerary nipple Hand polydactyly Coarse hair Bicuspid aortic valve Tibial bowing Mesomelia Increased serum lactate Atrial fibrillation Generalized amyotrophy Neurodevelopmental delay Ventricular arrhythmia EMG: myopathic abnormalities Cone/cone-rod dystrophy Respiratory insufficiency due to muscle weakness Ventricular tachycardia Hyperlipidemia Left ventricular hypertrophy Palpitations Ventricular hypertrophy Abnormality of the gastrointestinal tract Psychosis Chest pain Distal sensory impairment Distal amyotrophy Limb muscle weakness Abnormality of the eye Proximal muscle weakness Hyperactivity Depressivity Cognitive impairment Hypokinesia Reduced ejection fraction Thoracic hypoplasia Suicidal ideation Acanthosis nigricans Wide anterior fontanel Epidermal acanthosis Generalized-onset seizure Otitis media Severe global developmental delay Hydrocephalus Microcephaly Glycogen accumulation in muscle fiber lysosomes Increased cerebral lipofuscin Macular hypopigmentation Wolff-Parkinson-White syndrome Left ventricular systolic dysfunction Myocardial necrosis Ventricular preexcitation Impaired myocardial contractility Exercise-induced muscle cramps Retinal pigment epithelial mottling Muscle flaccidity Autophagic vacuoles Myofibrillar myopathy Myocardial fibrosis Lactic acidosis Aciduria Retinoschisis Short neck Retinal degeneration Paresthesia Narrow chest Pectus carinatum Autoimmunity Respiratory tract infection Hyperlordosis Apnea Arthritis Hernia Cleft palate Pulmonary hypoplasia 3-hydroxydicarboxylic aciduria Abnormality of acid-base homeostasis Reye syndrome-like episodes Acute hepatic steatosis Elevated plasma acylcarnitine levels Gastrointestinal inflammation Abnormal chorioretinal morphology Hepatic encephalopathy Abnormal left ventricle morphology Decreased plasma carnitine Flat face Retinal detachment Cholestatic liver disease Progressive sensorineural hearing impairment Limited hip movement Cervical myelopathy Flattened epiphysis Limited elbow movement Myelopathy Ovoid vertebral bodies Barrel-shaped chest Vitreoretinopathy Hypoplasia of the odontoid process Disproportionate short stature Restrictive ventilatory defect Limitation of joint mobility Short thorax Vestibular dysfunction Spondyloepiphyseal dysplasia Growth abnormality Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormality of the metaphysis Abnormal lung morphology Osteoarthritis Limb undergrowth Reduced consciousness/confusion Hypoketotic hypoglycemia Hemiparesis Organic aciduria Feeding difficulties Depletion of mitochondrial DNA in muscle tissue Abnormal muscle fiber protein expression Exercise-induced lactic acidemia Infantile axial hypotonia Inferior vermis hypoplasia Fatty replacement of skeletal muscle Decreased activity of mitochondrial respiratory chain Abnormal myelination 3-Methylglutaconic aciduria Right ventricular hypertrophy Vomiting Meningocele Mitochondrial myopathy Hypoplasia of the brainstem Abnormality of mitochondrial metabolism Premature ovarian insufficiency Recurrent upper respiratory tract infections Easy fatigability Eosinophilia Ragged-red muscle fibers Corneal dystrophy Peripheral neuropathy Abnormality of metabolism/homeostasis Recurrent hypoglycemia Polyneuropathy Preeclampsia Rhabdomyolysis Loss of consciousness Hypocalcemia Sensorimotor neuropathy Abnormality of retinal pigmentation Anorexia Peripheral demyelination Hypopigmentation of the skin Coma Metabolic acidosis Abdominal pain Hepatic steatosis Retinal dystrophy Hepatic failure Nausea Peripheral axonal neuropathy Nyctalopia Elevated hepatic transaminase Hypoglycemia Photophobia Jaundice Short 2nd toe



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