Cardiomyopathy, and Corneal opacity

Diseases related with Cardiomyopathy and Corneal opacity

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


Top matches:

Low match AGEL AMYLOIDOSIS


AGel amyloidosis is a rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.

AGEL AMYLOIDOSIS Is also known as amyloid cranial neuropathy with lattice corneal dystrophy|amyloidosis, meretoja type|amyloidosis due to mutant gelsolin|amyloidosis v|familial amyloidosis, finnish type|gelsolin amyloidosis|familial amyloid polyneuropathy type iv|hereditary amyloidosis, f

Related symptoms:

  • Cataract
  • Ptosis
  • Peripheral neuropathy
  • Cardiomyopathy
  • Renal insufficiency


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AGEL AMYLOIDOSIS

Low match LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3


LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3 Is also known as linear skin defects with cardiomyopathy and other congenital anomalies

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3

Low match HISTIOCYTOID CARDIOMYOPATHY


Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.

HISTIOCYTOID CARDIOMYOPATHY Is also known as foamy myocardial transformation of infancy|infantile cardiomyopathy with histiocytoid change|infantile xanthomatous cardiomyopathy|cardiomyopathy, oncocytic|cardiomyopathy, infantile xanthomatous|oncocytic cardiomyopathy|cardiomyopathy, focal lipid

Related symptoms:

  • Ventricular septal defect
  • Hydrocephalus
  • Cardiomyopathy
  • Atrial septal defect
  • Congestive heart failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about HISTIOCYTOID CARDIOMYOPATHY

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Other less relevant matches:

Low match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM


Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM Is also known as gsd due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogenosis type iv, fatal perinatal neuromuscular form|tarui disease|glycogenosis type 4, fatal perinatal neuromuscular form|gsd vii|gbe deficiency, fatal perinatal neur

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM

Low match WAGR SYNDROME


WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.

WAGR SYNDROME Is also known as del(11)(p13)|chromosome 11p13 deletion syndrome|wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|monosomy 11p13|deletion 11p13|wagr syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about WAGR SYNDROME

Low match SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA


Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.

SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA Is also known as rdeb, hallopeau-siemens type|severe generalized rdeb|dystrophic epidermolysis bullosa, autosomal recessive|rdeb generalisata gravis|epidermolysis bullosa dystrophica, hallopeau-siemens type|rdeb-sev gen|autosomal recessive dystrophic epidermolysis bullosa

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cataract
  • Anemia
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A


The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. Genetic Heterogeneity of Mucopolysaccharidosis Type IIIMPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; {252920}); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; {252930}); and N-acetylglucosamine 6-sulfatase (type D; {252940}).

MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A Is also known as mps iiia|sulfamidase deficiency|sanfilippo syndrome a|heparan sulfate sulfatase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

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 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

Low match NEURAMINIDASE DEFICIENCY


Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (OMIM ) is a form of 'free' sialic acid disease. ClassificationLowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis.

NEURAMINIDASE DEFICIENCY Is also known as neug deficiency|neuraminidase 1 deficiency|glycoprotein neuraminidase deficiency|neu1 deficiency|mucolipidosis i|neu deficiency|lipomucopolysaccharidosis|sialidase deficiency|ml i|sialidosis, type ii

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURAMINIDASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Corneal opacity

Symptoms // Phenotype % cases
Cataract Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Nystagmus Uncommon - Between 30% and 50% cases
Microphthalmia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Visual impairment Intellectual disability Glaucoma Splenomegaly Anemia Hepatomegaly Failure to thrive Renal insufficiency Generalized hypotonia Flexion contracture Dementia Microcephaly Growth delay Dilated cardiomyopathy Hearing impairment

Rare Symptoms - Less than 30% cases


Blindness Abnormality of the nervous system Congenital glaucoma Muscle weakness Congenital cataract Progressive visual loss Peters anomaly Supraventricular tachycardia Tetraplegia Muscle cramps Elevated serum creatine phosphokinase Short stature Microcornea Nephropathy Hypertrophic cardiomyopathy Micrognathia Neoplasm Scoliosis Hyperreflexia Jaundice Visual loss Hepatosplenomegaly Cerebral visual impairment Histiocytoid cardiomyopathy Osteopenia Abnormality of movement Ptosis Cardiomegaly Coarse facial features Muscular hypotonia of the trunk Muscular hypotonia Tachycardia Cardiac arrest Cerebral cortical atrophy Cerebellar hypoplasia Everted lower lip vermilion Intellectual disability, severe Agenesis of corpus callosum Myopia Ventricular tachycardia Ventricular fibrillation Dysostosis multiplex Ataxia Proteinuria Peripheral neuropathy Strabismus Restlessness Ectopia pupillae Cerebellar atrophy Increased intraocular pressure Hypoplasia of the iris Posterior embryotoxon Infantile spasms Scotoma Corneal neovascularization Migraine with aura Anterior segment developmental abnormality Anterior synechiae of the anterior chamber Hypopigmentation of the fundus Porencephalic cyst Blurred vision Thickened calvaria Coarse hair Growth abnormality Retinal hemorrhage Recurrent upper respiratory tract infections Neuritis Arterial tortuosity Limb ataxia Rieger anomaly Asymmetric septal hypertrophy Central nervous system degeneration Visceromegaly Hypopigmentation of the skin Headache Dilatation Dysarthria Depressivity Facial palsy Retinopathy Stroke Abnormality of the cerebral white matter Hypermetropia Perivascular spaces Dense calvaria Astigmatism Hematuria Retinal detachment Renal cyst Cerebral hemorrhage Migraine Spastic tetraplegia Hemiparesis Ovoid thoracolumbar vertebrae Amblyopia Paraparesis Spastic paraparesis Leukoencephalopathy Thickened ribs Dysphonia Intellectual disability, mild Intracranial hemorrhage Heparan sulfate excretion in urine Hemiplegia Polycoria Anteverted nares Diffuse leukoencephalopathy Myoclonus Falls Dysmetria Pectus carinatum Mental deterioration Skeletal dysplasia Dyspnea Inguinal hernia Ascites Hernia Kyphosis Tremor Skeletal muscle atrophy Sensorineural hearing impairment Congenital microcephaly Increased CSF protein Neurodegeneration Progressive cerebellar ataxia Lissencephaly Thoracic kyphosis Increased urinary O-linked sialopeptides Bone-marrow foam cells Cherry red spot of the macula Facial edema Vacuolated lymphocytes Foam cells Barrel-shaped chest Hand tremor Waddling gait Syringomyelia Epiphyseal stippling Hyperactive deep tendon reflexes Slurred speech Laryngomalacia Hydrops fetalis Choreoathetosis Petechiae Spastic tetraparesis Optic neuritis Spasticity Hypertonia Progressive neurologic deterioration Ventriculomegaly Fever High palate Low-set ears Abnormal facial shape Thrombocytopenia Hypertelorism Thalamic hemorrhage Posterior leukoencephalopathy Retinal arterial tortuosity Right hemiplegia Peripapillary atrophy Retinal arteriolar tortuosity Long philtrum Micropenis Purpura Intellectual disability, profound Microretrognathia Opacification of the corneal stroma Decreased liver function Postnatal microcephaly Pachygyria Tetraparesis Status epilepticus Sloping forehead Elevated hepatic transaminase Cerebral calcification Neuronal loss in central nervous system Gliosis Polymicrogyria Generalized tonic-clonic seizures Skin rash Abnormality of the liver Split hand Corneal erosion Sleep disturbance Hypoplasia of the retina Respiratory failure Vomiting Myopathy Fatigue Pain Acute tubular necrosis Increased mitochondrial number Arthritis Decreased activity of mitochondrial complex I Abnormal atrioventricular conduction Endocardial fibroelastosis Skeletal myopathy Abnormal myocardium morphology Left ventricular noncompaction Myalgia Nausea and vomiting Hypoplastic left heart Myoglobinuria Exercise-induced muscle cramps Gastric ulcer Increased total bilirubin Dark urine Nonspherocytic hemolytic anemia Gout Reticulocytosis Limb muscle weakness Polycythemia Cholelithiasis Easy fatigability Exercise intolerance Hemolytic anemia Nausea Wolff-Parkinson-White syndrome Sudden cardiac death Increased muscle glycogen content Cutis laxa Bulbar signs Abnormality of abdomen morphology Amyloidosis Orthostatic hypotension Bulbar palsy Corneal dystrophy Abnormal autonomic nervous system physiology Mild proteinuria Palpitations Nephrotic syndrome Hypotension Polyneuropathy Poor speech Paralysis Facial paralysis Lattice corneal dystrophy Hepatic steatosis Lacrimal duct atresia Arrhythmia Congestive heart failure Atrial septal defect Hydrocephalus Ventricular septal defect Hyperpigmented streaks Cavum septum pellucidum Cardiac amyloidosis Dilation of lateral ventricles Sclerocornea Pericardial effusion Severe muscular hypotonia Intrauterine growth retardation Generalized amyloid deposition Bilateral facial palsy Exercise-induced myoglobinuria Reduced erythrocyte 2,3-diphosphoglycerate concentration Hirsutism Atrophic scars Ankyloglossia Squamous cell carcinoma of the skin Atypical scarring of skin Blepharitis Fragile skin Skin vesicle Milia Corneal scarring Malnutrition Squamous cell carcinoma Ectropion Hypoalbuminemia Dermal atrophy Neoplasm of the skin Esophageal stricture Scarring alopecia of scalp Joint contracture of the hand Delayed speech and language development Synophrys Joint stiffness Hyperactivity Pneumonia Behavioral abnormality Diarrhea Spontaneous esophageal perforation Absent toenail Mitten deformity Esophageal stenosis Loss of eyelashes Refractory anemia Absent fingernail Abnormality of the anus Conjunctivitis Hypoplasia of dental enamel Cryptorchidism Aniridia Gonadoblastoma Abnormality of the uterus Hemihypertrophy Renal neoplasm Hearing abnormality Acute lymphoblastic leukemia Nephroblastoma Aplasia/Hypoplasia of the iris Abnormality of the genitourinary system Abnormality of the genital system Ambiguous genitalia Leukemia Hypospadias Obesity Abnormal vagina morphology Streak ovary Abnormal blistering of the skin Scarring Nail dysplasia Delayed puberty Toe syndactyly Carious teeth Nail dystrophy Pruritus Carcinoma Displacement of the external urethral meatus Narrow mouth Osteoporosis Alopecia Constipation Syndactyly Dysphagia Dysfunction of lateral corticospinal tracts Urinary excretion of sialylated oligosaccharides



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