Cardiomyopathy, and Nephrotic syndrome

Diseases related with Cardiomyopathy and Nephrotic syndrome

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Nephrotic syndrome 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 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33


COXPD33 is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. The phenotype is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. A common finding is cardiomyopathy and increased serum lactate (summary by Feichtinger et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33

Low match AMYLOIDOSIS, FAMILIAL VISCERAL


AMYLOIDOSIS, FAMILIAL VISCERAL Is also known as german type amyloidosis|amyloidosis, systemic nonneuropathic|amyloidosis viii|amyloidosis, familial renal|ostertag type amyloidosis

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Pain
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AMYLOIDOSIS, FAMILIAL VISCERAL

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Other less relevant matches:

Low match HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME


Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).

HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME Is also known as barakat syndrome|hdrs|nephrosis, nerve deafness, and hypoparathyroidism|hdr syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME

Low match ALG1-CDG


ALG1-CDG is a severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).

ALG1-CDG Is also known as cdg1k|cdgik|cdg syndrome type ik|congenital disorder of glycosylation type 1k|cdg-ik|mannosyltransferase 1 deficiency|cdg ik|congenital disorder of glycosylation type ik|carbohydrate deficient glycoprotein syndrome type ik

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALG1-CDG

Low match COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1


Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 DeficiencySee also COQ10D2 (OMIM ), caused by mutation in the PDSS1 gene (OMIM ) on chromosome 10p12; COQ10D3 (OMIM ), caused by mutation in the PDSS2 gene (OMIM ) on chromosome 6q21; COQ10D4 (OMIM ), caused by mutation in the COQ8 gene (ADCK3 ) on chromosome 1q42; COQ10D5 (OMIM ), caused by mutation in the COQ9 gene (OMIM ) on chromosome 16q21; COQ10D6 (OMIM ), caused by mutation in the COQ6 gene (OMIM ) on chromosome 14q24; COQ10D7 (OMIM ), caused by mutation in the COQ4 gene (OMIM ) on chromosome 9q34; and COQ10D8 (OMIM ), caused by mutation in the COQ7 gene (OMIM ) on chromosome 16p13.Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD ), caused by mutation in the ETFDH gene (OMIM ) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1 ), caused by mutation in the APTX gene (OMIM ) on chromosome 9p13.

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 Is also known as ubiquinone deficiency 1|coq10 deficiency, primary, 1|coq deficiency 1|coenzyme q deficiency 1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

Low match PMM2-CDG


PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.

PMM2-CDG Is also known as jaeken syndrome|cdg-ia|cdg ia|cdg syndrome type ia|cdg1a|carbohydrate-deficient glycoprotein syndrome, type ia, formerly|carbohydrate deficient glycoprotein syndrome type ia|congenital disorder of glycosylation type 1a|phosphomannomutase 2 deficiency|cdgi

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PMM2-CDG

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Low match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Low match AA AMYLOIDOSIS


Secondary amyloidosis is a form of amyloidosis (see this term), that complicates chronic inflammatory disorders (mainly rheumatoid arthritis, see this term) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.

AA AMYLOIDOSIS Is also known as secondary amyloidosis|inflammatory amyloidosis|reactive amyloidosis

Related symptoms:

  • Hepatomegaly
  • Vomiting
  • Abnormal heart morphology
  • Abdominal pain
  • Hypothyroidism


SOURCES: ORPHANET MENDELIAN

More info about AA AMYLOIDOSIS

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Nephrotic syndrome

Symptoms // Phenotype % cases
Proteinuria Common - Between 50% and 80% cases
Nephropathy Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypothyroidism Hepatomegaly Intellectual disability Vomiting Stroke Hypertension Muscle weakness Growth delay Abnormality of the kidney Chronic kidney disease Cerebellar atrophy Hearing impairment Hypertrophic cardiomyopathy Anemia Pain Diarrhea Glomerulopathy Fever Edema Abdominal pain Glomerulosclerosis Ptosis Cognitive impairment Malabsorption Hypogonadism Nystagmus Sensorineural hearing impairment Rod-cone dystrophy Generalized hypotonia Global developmental delay Exercise intolerance Hematuria Cataract Polyneuropathy Corneal opacity Encephalopathy Amyloidosis Acidosis Hypotension Fatigue

Rare Symptoms - Less than 30% cases


Type I transferrin isoform profile Orthostatic hypotension Abnormal renal physiology Stage 5 chronic kidney disease Palpitations Cerebral atrophy Bulbous nose Ischemic stroke Muscle cramps Abnormality of the amniotic fluid Atrioventricular block Bilateral sensorineural hearing impairment Motor delay Hypergonadotropic hypogonadism Depressed nasal bridge Ventricular tachycardia Progressive sensorineural hearing impairment Skeletal muscle atrophy Nausea Reduced bone mineral density Short stature Corneal dystrophy Respiratory distress Congestive heart failure Microcephaly Distal renal tubular acidosis Emphysema Headache Muscular hypotonia Muscular hypotonia of the trunk Flexion contracture Developmental regression Intrauterine growth retardation Respiratory insufficiency Renal tubular acidosis Myalgia Abnormal heart morphology Optic atrophy Abnormality of the liver Elevated serum creatine phosphokinase Constipation Steroid-resistant nephrotic syndrome Elevated hepatic transaminase Congenital nephrotic syndrome Ataxia Scoliosis Amblyopia Failure to thrive Left ventricular hypertrophy Ventricular hypertrophy Nonimmune hydrops fetalis Kyphosis Hyperlipidemia Metabolic acidosis Astigmatism Glaucoma Splenomegaly Tubular atrophy Abnormal autonomic nervous system physiology Hepatic failure Abnormality of the nervous system Thin upper lip vermilion Renal amyloidosis Focal segmental glomerulosclerosis Restrictive cardiomyopathy Hepatosplenomegaly Osteopenia Glomerulonephritis Transient ischemic attack Abnormal lung morphology Abnormal facial shape Cholestasis Generalized amyloid deposition Paresthesia Skin rash Cardiac amyloidosis Lymphoproliferative disorder B-cell lymphoma Subcutaneous nodule Mitral regurgitation Hypoplasia of the capital femoral epiphysis Anorexia Prominent supraorbital ridges Diabetes insipidus Tricuspid regurgitation Impaired vibratory sensation Clubbing Heart murmur Disproportionate short-trunk short stature Personality changes Polydipsia Hemiplegia Abnormality of the hand Easy fatigability Hypohidrosis Tinnitus Progressive hearing impairment Abnormal intestine morphology Aortic regurgitation Purpura Aminoaciduria Spontaneous abortion Fasciculations Bradycardia Lymphedema Ventricular arrhythmia Vertigo Myocardial infarction Right ventricular cardiomyopathy Posteriorly rotated ears Arrhythmia Depressivity Midface retrusion Precocious atherosclerosis Dilatation Behavioral abnormality Lateral displacement of the femoral head Subvalvular aortic stenosis Dentinogenesis imperfecta Cellular immunodeficiency Nephrosclerosis Hyperkeratosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Arteriosclerosis Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Multiple lentigines Mucopolysacchariduria Hyperhidrosis Dyspnea Atrial fibrillation Tachycardia Thick lower lip vermilion Mitral valve prolapse Abnormality of the cardiovascular system Urinary incontinence Syncope Sudden cardiac death Chest pain Abdominal distention Thick vermilion border Thick eyebrow Villous atrophy Delayed puberty Mandibular prognathia Nausea and vomiting Abnormality of the cerebral white matter Pruritus Papule Prominent nasal bridge Cough Anxiety Arthritis Carcinoma Coarse facial features Cerebral ischemia Arthralgia Abnormality of femur morphology Polyuria Angiokeratoma Mucosal telangiectasiae Concentric hypertrophic cardiomyopathy Coronary artery stenosis Shortened PR interval Decreased lacrimation Angiokeratoma corporis diffusum Shortened QT interval Hyposthenuria Impaired temperature sensation Obstructive lung disease Reduced sperm motility ST segment depression Increased blood urea nitrogen Vascular tortuosity Decreased glomerular filtration rate Nephrogenic diabetes insipidus Abnormality of temperature regulation Limb pain Corneal crystals Retinal vascular tortuosity Vascular skin abnormality Decreased female libido Abnormality of cardiovascular system physiology Unexplained fevers Functional abnormality of the gastrointestinal tract Biventricular hypertrophy Abnormality of the common coagulation pathway Abnormal cardiac ventricle morphology Abnormal oral mucosa morphology Abnormal echocardiogram Enlarged kidney Acute kidney injury Malnutrition Adrenal insufficiency Venous thrombosis Chronic diarrhea Cornea verticillata Abnormal glomerular filtration rate Increased glomerular filtration rate Impaired renal concentrating ability Increased carotid artery intimal medial thickness Abnormal ST segment Abnormal common carotid artery morphology Acroparesthesia Heavy proteinuria Tenesmus Left ventricular septal hypertrophy Tortuosity of conjunctival vessels Hyperkeratotic papule Abnormality of the forehead Abnormality of glycosphingolipid metabolism Abnormal endocardium morphology Primary hypothyroidism Anhidrosis Abnormality of lipid metabolism Supraventricular tachycardia Large earlobe Oligospermia Abnormality of the gastrointestinal tract Elevated serum creatinine Tubulointerstitial nephritis Edema of the lower limbs Renal tubular dysfunction Xerostomia Abnormal EKG Aortic root aneurysm Reduced ejection fraction Wheezing Glycosuria Abnormal heart valve morphology Telangiectasia of the skin Celiac disease Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Coronary artery atherosclerosis Impotence Bundle branch block Loss of consciousness Heat intolerance Peripheral arterial stenosis Microalbuminuria Gastrointestinal dysmotility Conjunctival telangiectasia Supraventricular arrhythmia Dysesthesia Abnormal cornea morphology Abnormality of the renal tubule Abnormal thrombosis Tubulointerstitial fibrosis Chronic pain Miosis T-wave inversion Abnormal aortic valve morphology Periorbital fullness Clubbing of fingers Abnormal mitral valve morphology Asymmetric septal hypertrophy High-frequency hearing impairment Abnormal myocardium morphology Abnormality of the nose Chronic fatigue Myocardial fibrosis Sinus bradycardia Achalasia Chronic obstructive pulmonary disease Angina pectoris Ovoid vertebral bodies Myopia Thoracic kyphosis Micrognathia Abnormality of coagulation Portal hypertension Large fontanelles Ascites Thin vermilion border Jaundice Cerebral cortical atrophy Areflexia Blindness Hypertelorism Budd-Chiari syndrome Unilateral renal dysplasia Parathyroid hypoplasia Abnormality of T cell physiology Unilateral deafness Bilateral renal dysplasia Thickening of the glomerular basement membrane Septate vagina Pseudopapilledema Proximal renal tubular acidosis Uterus didelphys Abnormality of immune system physiology Spasticity Aplasia of the uterus Aciduria Ragged-red muscle fibers Oculomotor apraxia Progressive muscle weakness Progressive neurologic deterioration Status epilepticus Pancytopenia Apraxia Specific learning disability Memory impairment Progressive cerebellar ataxia Hyperreflexia Postural instability Lactic acidosis Joint hyperflexibility Abnormal pyramidal sign Respiratory failure Myoclonus Visual loss Intellectual disability, mild Gait disturbance Dysarthria Hypocalcemic seizures Ovarian cyst Failure to thrive in infancy Myopathy Neoplasm Progressive external ophthalmoplegia External ophthalmoplegia Cardiomegaly Oligohydramnios Increased serum lactate Lower limb muscle weakness Limb muscle weakness Ophthalmoplegia Bilateral facial palsy Urticaria Lattice corneal dystrophy Mild proteinuria Facial paralysis Bulbar signs Abnormality of abdomen morphology Bulbar palsy Cutis laxa Everted lower lip vermilion Poor speech Paralysis Weight loss Optic neuropathy Vaginal atresia Nephrocalcinosis Tetany Severe postnatal growth retardation Hypoparathyroidism Basal ganglia calcification Unilateral renal agenesis Psoriasiform dermatitis Polycystic kidney dysplasia Polycystic ovaries Abnormality of the urinary system Hyperkinesis Multicystic kidney dysplasia Papilledema Hypocalcemia Horizontal nystagmus Renal dysplasia Ectodermal dysplasia Vesicoureteral reflux Hydronephrosis Diabetes mellitus Cleft palate Albuminuria Drusen Hyperextensible skin Ophthalmoparesis Abnormality of the vasculature Hip dislocation Lymphoma Premature birth Migraine Brain atrophy Gliosis Abnormal cerebellum morphology Neutropenia Abnormality of skin pigmentation Platyspondyly Autoimmunity Decreased testicular size Scarring Hyperlordosis Dementia Pneumonia Thrombocytopenia Recurrent infections Immunodeficiency Abnormality of the dentition Short neck Hyperplastic labia majora Waddling gait Microdontia Olivopontocerebellar hypoplasia Encephalitis Protuberant abdomen Multiple cafe-au-lait spots Steatorrhea Hypermelanotic macule Combined immunodeficiency High pitched voice Spondyloepiphyseal dysplasia Melanocytic nevus Nephritis Epiphyseal dysplasia Coarse hair Lumbar hyperlordosis Azoospermia Atherosclerosis Opacification of the corneal stroma Bone marrow hypocellularity Lymphopenia Abnormality of epiphysis morphology Heterotopia Abnormal form of the vertebral bodies Fine hair Intellectual disability, profound Abnormal subcutaneous fat tissue distribution Reduced factor XI activity Generalized amyotrophy Prominent forehead Hepatic steatosis Cirrhosis Retinal degeneration Abnormality of eye movement Severe global developmental delay Feeding difficulties in infancy Abnormality of the eye Kyphoscoliosis Macrotia Cerebellar hypoplasia Esotropia Hyporeflexia Feeding difficulties Strabismus Crescentic glomerulonephritis Rapid neurologic deterioration Exercise-induced myoglobinuria Recurrent myoglobinuria Glutaric aciduria Scanning speech Myoglobinuria Renal cyst Epileptic encephalopathy Reduced antithrombin III activity Thrombocytosis Pontocerebellar atrophy Micronodular cirrhosis Diffuse mesangial sclerosis Hypocholesterolemia Proximal tubulopathy Prolonged prothrombin time Olivopontocerebellar atrophy Stroke-like episode Prolonged partial thromboplastin time IgG deficiency Inverted nipples Peripheral demyelination Atrophy/Degeneration affecting the brainstem IgA deficiency Pericardial effusion Premature ovarian insufficiency Lipodystrophy Hypoalbuminemia Truncal ataxia Insulin resistance Hepatic fibrosis Pigmentary retinopathy Hepatic amyloidosis



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