Cardiomyopathy, and Cone/cone-rod dystrophy

Diseases related with Cardiomyopathy and Cone/cone-rod dystrophy

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Cone/cone-rod dystrophy 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 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME


Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Medium match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

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Other less relevant matches:

Low match BARDET-BIEDL SYNDROME 2; BBS2


BBS2 is an autosomal recessive ciliopathy characterized by retinal degeneration, polydactyly, renal disease, hypogonadism, obesity, dysmorphic features, and variable degrees of cognitive impairment (Innes et al., 2010). Mutation in the BBS2 gene is the third most frequent cause of BBS, accounting for approximately 8% of cases (Zaghloul and Katsanis, 2009).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Cognitive impairment
  • Cardiomyopathy
  • Atrial septal defect


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 2; BBS2

Low match CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME


Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.

CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME Is also known as sifd syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME

Low 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

Low match NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS


NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding (summary by Wortmann et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS

Low match ATAXIA WITH VITAMIN E DEFICIENCY


Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.

ATAXIA WITH VITAMIN E DEFICIENCY Is also known as familial isolated vitamin e deficiency|aved|ataxia with isolated vitamin e deficiency|isolated vitamin e deficiency|friedreich-like ataxia|ataxia, friedreich-like, with selective vitamin e deficiency

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ATAXIA WITH VITAMIN E DEFICIENCY

Low match CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10


The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 Is also known as neuronal ceroid lipofuscinosis due to cathepsin d deficiency|ceroid lipofuscinosis, neuronal, cathepsin d-deficient

Related symptoms:

  • Seizures
  • Microcephaly
  • Ataxia
  • Spasticity
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10

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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Cone/cone-rod dystrophy

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Rod-cone dystrophy Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Mendelian

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Other less frequent symptoms

Patients with Cardiomyopathy and Cone/cone-rod dystrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Visual loss

Uncommon Symptoms - Between 30% and 50% cases


Congestive heart failure Peripheral neuropathy Arrhythmia Sensorineural hearing impairment Nystagmus Growth delay Respiratory distress Visual impairment Cognitive impairment Skeletal muscle atrophy Hearing impairment Muscle weakness Retinal degeneration Tremor Progressive visual loss Retinal dystrophy Dystonia Generalized hypotonia Dilated cardiomyopathy Generalized amyotrophy Cataract Respiratory insufficiency Spasticity Retinopathy Optic atrophy Microcephaly Cerebral atrophy Nyctalopia Pes cavus Diabetes mellitus Scoliosis Mental deterioration

Rare Symptoms - Less than 30% cases


Polyneuropathy Atrial septal defect Thrombocytopenia Gastroesophageal reflux Anorexia Anemia Nephrocalcinosis Aminoaciduria Polycystic ovaries Hyperglycemia Hypoglycemia Hypercholesterolemia Hypertonia Sideroblastic anemia Hypogonadism Autistic behavior Lactic acidosis Flexion contracture Intellectual disability, severe Absent speech Cyanosis Autism Respiratory failure Polydactyly Congenital cataract Hypertriglyceridemia Dysmetria Encephalopathy Obesity Abnormality of retinal pigmentation Cerebellar atrophy Rigidity Blindness Motor delay Delayed speech and language development Feeding difficulties Neurological speech impairment Short stature Pallor Myocardial fibrosis Scarring Fatigue Abnormality of the liver Myopathy Depressivity Elevated serum creatine phosphokinase Abnormal retinal morphology Gait disturbance Myopia Hepatomegaly Hypertension Retinal atrophy Pain Hyperlipidemia Pigmentary retinopathy Cardiac arrest Decreased liver function Left ventricular hypertrophy Cardiomegaly Hypertrophic cardiomyopathy ST segment depression Facial hirsutism Urethral stenosis Urethral obstruction Chronic hepatic failure Hepatic necrosis Hypoplastic male external genitalia Tubulointerstitial nephritis Abnormality of the pituitary gland Attenuation of retinal blood vessels Right ventricular hypertrophy Elevated serum creatinine Acute hepatic failure Pendular nystagmus High-frequency sensorineural hearing impairment Gingivitis Thickened ears Abnormality of prothrombin EEG with occipital slowing Precocious puberty in females Abnormal retinal artery morphology Widely-spaced incisors Recurrent cystitis Glue ear Unilateral breast hypoplasia Dilatation of the bladder Granular macular appearance Multifocal atrial tachycardia Receptive language delay Hyperostosis frontalis interna Chronic active hepatitis Abnormal adipose tissue morphology Nonproductive cough Exudative retinopathy Increased circulating androgen level Squared iliac bones Ketoacidosis Childhood-onset truncal obesity Recurrent bronchitis Albuminuria Tubular atrophy Bull's eye maculopathy Endocardial fibroelastosis Retinal pigment epithelial atrophy Hematemesis Frontal balding Increased total bilirubin Vertical nystagmus Localized hirsutism Disinhibition Abnormal renal physiology Abnormal left ventricle morphology Testicular atrophy Melena Multinodular goiter Abnormality of female external genitalia Tubulointerstitial fibrosis Elevated C-reactive protein level Arteriosclerosis Urinary retention Hepatic encephalopathy Poor fine motor coordination Pyelonephritis Chills Acute pancreatitis Abnormal renal morphology First degree atrioventricular block Renovascular hypertension Urethral stricture Myocarditis Achromatopsia Oligospermia Male hypogonadism Chronic fatigue Chronic obstructive pulmonary disease Esophageal varix Abnormal muscle tone Female hypogonadism Impaired temperature sensation Restrictive cardiomyopathy Abnormal chorioretinal morphology Abnormality of the optic disc Epigastric pain Abnormality of dental color Lumbar scoliosis High-frequency hearing impairment Abnormality of the urethra Ovarian cyst Decreased HDL cholesterol concentration Chronic infection Menstrual irregularities Abnormal spermatogenesis Decreased glomerular filtration rate Abnormality of renal calyx morphology Intrauterine growth retardation Vitreous haze Increased LDL cholesterol concentration Apnea Dementia Abnormality of metabolism/homeostasis Wide nasal bridge Low-set ears Tendon xanthomatosis Vitamin E deficiency Abetalipoproteinemia Xanthelasma Fat malabsorption Gliosis Spinocerebellar tract degeneration Abnormality of visual evoked potentials Steatorrhea Hemiplegia/hemiparesis Dysdiadochokinesis Slurred speech Sensory neuropathy Lower limb muscle weakness Malabsorption Abnormal pyramidal sign Peripheral axonal neuropathy Nevus Abnormality of the nervous system Premature closure of fontanelles Polyneuritis Calcific stippling Short 5th metacarpal Distal lower limb amyotrophy Hammertoe Anosmia Sensorimotor neuropathy Rhizomelia Ichthyosis Skeletal dysplasia Increased neuronal autofluorescent lipopigment Neuronal loss in central nervous system Intracellular accumulation of autofluorescent lipopigment storage material Central apnea Loss of speech Sensory axonal neuropathy Intellectual disability, progressive Bradycardia Postnatal microcephaly Status epilepticus Sloping forehead Generalized-onset seizure Developmental regression Areflexia Abnormality of the femoral head Lymphopenia Severe global developmental delay Muscular dystrophy Facial palsy Cerebellar hypoplasia Hypoplasia of the corpus callosum Schistocytosis Hypochromic microcytic anemia Anemia of inadequate production Microcytic anemia Brittle hair Decreased antibody level in blood Macroglossia Abnormal cerebellum morphology Neurodegeneration Immunodeficiency Unilateral renal hypoplasia Secundum atrial septal defect External genital hypoplasia Bicuspid aortic valve Renal hypoplasia Postaxial hand polydactyly Postaxial polydactyly Inability to walk Limb-girdle muscular dystrophy Dysarthria Spastic tetraplegia Mitochondrial encephalopathy Multifocal seizures Diffuse cerebral atrophy Epileptic spasms Limb hypertonia Brisk reflexes Athetosis Leukoencephalopathy Exotropia Amblyopia Increased serum lactate Congenital muscular dystrophy Delayed myelination Tetraplegia Muscular hypotonia of the trunk Aggressive behavior Acidosis Ventriculomegaly Posterior subcapsular cataract Hyperreflexia Cerebellar dysplasia Enlarged cisterna magna Broad foot Lipodystrophy Oligomenorrhea Thiamine-responsive megaloblastic anemia Dilatation Renal insufficiency Kyphosis Splenomegaly Behavioral abnormality Abnormality of the dentition Vomiting Short neck Strabismus Failure to thrive Paroxysmal atrial tachycardia Patent ductus arteriosus Progressive peripheral neuropathy Abnormality of the basal ganglia Abdominal situs inversus Megaloblastic anemia Macrocytic anemia Secondary amenorrhea Myelodysplasia Hoarse voice Situs inversus totalis Pancytopenia Clinodactyly Hyporeflexia Amenorrhea Hepatosplenomegaly Postnatal growth retardation Irritability Abnormality of the kidney Proteinuria Myalgia Conductive hearing impairment Elevated hepatic transaminase Deeply set eye Photophobia Jaundice Pes planus Constipation Kyphoscoliosis Dyspnea Hypothyroidism Weight loss Hyperkeratosis Abdominal pain Hyperhidrosis Myoclonus Recurrent respiratory infections Pneumonia Alopecia Bilateral sensorineural hearing impairment Abnormality of the skin Sparse hair Palpitations Cardiorespiratory arrest Hypokinesia Neurodevelopmental delay Back pain Abnormal electroretinogram Ventricular arrhythmia EMG: myopathic abnormalities Respiratory insufficiency due to muscle weakness Ventricular tachycardia Exercise intolerance Atrial fibrillation Reduced ejection fraction Ventricular hypertrophy Psychosis Chest pain Distal sensory impairment Distal amyotrophy Limb muscle weakness Abnormality of the eye Proximal muscle weakness Reduced visual acuity Hyperactivity Abnormality of the gastrointestinal tract Wolff-Parkinson-White syndrome Aciduria Glycogen accumulation in muscle fiber lysosomes Neutropenia Paresthesia Lethargy Stroke Abnormal cardiac septum morphology Abnormal heart morphology Headache Diarrhea Ventricular septal defect Cryptorchidism Increased cerebral lipofuscin Myofibrillar myopathy Suicidal ideation Macular hypopigmentation Left ventricular systolic dysfunction Myocardial necrosis Ventricular preexcitation Impaired myocardial contractility Exercise-induced muscle cramps Retinal pigment epithelial mottling Muscle flaccidity Autophagic vacuoles Skeletal myopathy Respiratory tract infection Cough Poor coordination Polydipsia Glucose intolerance Diabetes insipidus Hyperostosis Acne Impaired vibratory sensation Constriction of peripheral visual field Aplasia/Hypoplasia of the cerebellum Obsessive-compulsive behavior Chronic otitis media Nephritis Portal hypertension Emphysema Hyperinsulinemia Precocious puberty Elevated alkaline phosphatase Cholelithiasis Abnormality of the hand Goiter Tachypnea Pancreatitis Atherosclerosis Acanthosis nigricans Polyuria Pulmonary fibrosis Accelerated skeletal maturation Increased number of teeth Hyperventilation Alopecia of scalp Peripheral visual field loss Insulin-resistant diabetes mellitus Hypoventilation Severe sensorineural hearing impairment Autoimmune thrombocytopenia Thoracic scoliosis Pericarditis Subcapsular cataract Hyperuricemia Hydroureter Bronchitis Glycosuria Glomerulopathy Progressive sensorineural hearing impairment Agenesis of permanent teeth Short finger Polyphagia Chorioretinal atrophy Pericardial effusion Truncal obesity Urinary urgency Macular degeneration Absence seizures Generalized tonic-clonic seizures Tachycardia Urinary incontinence Vesicoureteral reflux Asthma Abdominal distention Ascites Sleep disturbance Nephropathy Hepatic steatosis Hirsutism Hepatic failure Cirrhosis Gastrointestinal hemorrhage Nausea Stage 5 chronic kidney disease Lymphadenopathy Dry skin Infertility Delayed puberty Carious teeth Pulmonic stenosis Ophthalmoplegia Hypermetropia Hypotrichosis Round face Growth hormone deficiency Hypogonadotrophic hypogonadism Insulin resistance Generalized hirsutism Increased body weight Horizontal nystagmus Recurrent pneumonia Hypergonadotropic hypogonadism Short toe Gynecomastia Sinusitis Hyperpigmentation of the skin Hepatic fibrosis Chronic diarrhea Otitis media Thickened skin Recurrent urinary tract infections Involuntary movements Recurrent otitis media Pulmonary arterial hypertension Epidermal acanthosis Type II diabetes mellitus Optic disc pallor Hepatitis Specific learning disability Decreased testicular size Elevated levels of phytanic acid



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