Cardiomyopathy, and Renal cyst

Diseases related with Cardiomyopathy and Renal cyst

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


Top matches:

Low match NEPHRONOPHTHISIS 16; NPHP16


Related symptoms:

  • Cardiomyopathy
  • Renal insufficiency
  • Patent ductus arteriosus
  • Hypertrophic cardiomyopathy
  • Abnormality of the kidney


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS 16; NPHP16

Low match NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1


Nephronophthisis is an autosomal recessive cystic kidney disease characterized by onset of end-stage renal failure in the first 3 decades of life. The disorder is often associated with extrarenal manifestations, including liver fibrosis, retinal degeneration, and central nervous system abnormalities (summary by O'Toole et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1

Low match RENAL-HEPATIC-PANCREATIC DYSPLASIA 2; RHPD2


RHPD2 is an autosomal recessive multisystemic disorder with severe abnormalities apparent in utero and often resulting in fetal death or death in infancy. The main organs affected include the kidney, liver, and pancreas, although other abnormalities, including cardiac, skeletal, and lung defects, may also be present. Affected individuals often have situs inversus. The disorder results from a defect in ciliogenesis and ciliary function, as well as in cell proliferation and epithelial morphogenesis; thus, the clinical manifestations are highly variable (summary by Grampa et al., 2016).For a discussion of genetic heterogeneity of renal-hepatic-pancreatic dysplasia, see RHPD1 (OMIM ).

Related symptoms:

  • Hepatomegaly
  • Talipes equinovarus
  • Hypertrophic cardiomyopathy
  • Pulmonic stenosis
  • Narrow chest


SOURCES: OMIM MENDELIAN

More info about RENAL-HEPATIC-PANCREATIC DYSPLASIA 2; RHPD2

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Other less relevant matches:

Low match REFSUM DISEASE, CLASSIC


Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. However, not all patients show all these features. All patients have accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. Other variable features include cardiac dysfunction, nerve deafness, ichthyosis, and multiple epiphyseal dysplasia (review by Skjeldal et al., 1987).Increased levels of phytanic acid can also be found in peroxisomal biogenesis disorders; see Zellweger syndrome (see {214100}) (Skjeldal et al., 1987).Infantile Refsum disease (see PBD1B, {601539}) is a distinct disorder with a different phenotype and genetic basis.A phenotype clinically indistinguishable from that of classic Refsum disease (PBD9B ), but with a different biochemical profile, can be caused by mutation in the gene encoding peroxin-7 (PEX7 ) on chromosome 6q.

REFSUM DISEASE, CLASSIC Is also known as heredopathia atactica polyneuritiformis|hmsn iv|phytanic acid oxidase deficiency|hereditary motor and sensory neuropathy iv|hmsn4|refsum disease, adult, 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about REFSUM DISEASE, CLASSIC

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 COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11


COXPD11 is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11 Is also known as coxpd11|encephaloneuromyopathy, infantile, due to mitochondrial translation defect

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11

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 INFANTILE REFSUM DISEASE


Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).

INFANTILE REFSUM DISEASE Is also known as adrenoleukodystrophy, autosomal neonatal|infantile phytanic acid storage disease|peroxisome biogenesis disorder (nald/ird)|ird|refsum disease, infantile|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE REFSUM DISEASE

Low match CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM


The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Renal cyst

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Acidosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cataract Nystagmus Global developmental delay Hepatomegaly Sensorineural hearing impairment Neonatal hypotonia Enlarged kidney Renal dysplasia Polycystic kidney dysplasia Arrhythmia Generalized hypotonia Microcephaly Cardiomegaly Abnormality of the kidney Rod-cone dystrophy Hepatic fibrosis

Rare Symptoms - Less than 30% cases


Elevated levels of phytanic acid Hyperoxaluria Epiphyseal stippling Ichthyosis Hypertrophic cardiomyopathy Hyperkalemia Nephronophthisis Hepatic steatosis Nyctalopia High forehead Hyporeflexia Growth delay Stroke Abnormality of the foot Muscular hypotonia High palate Renal tubular acidosis Failure to thrive Low-set ears Feeding difficulties Respiratory insufficiency Chronic kidney disease Hydronephrosis Absent speech Multicystic kidney dysplasia Respiratory failure Lethargy Hematuria Visual impairment Congestive heart failure Leukodystrophy Wide nasal bridge Situs inversus totalis Elevated serum creatine phosphokinase Cerebral hemorrhage Peripheral neuropathy Retinopathy Oligohydramnios Congenital cataract Dilated cardiomyopathy Cystic renal dysplasia Hypertension Retinal degeneration Aortic valve stenosis Cholestasis Delayed speech and language development Ptosis Pulmonic stenosis Ataxia Facial palsy Dysphonia Thalamic hemorrhage Right hemiplegia Skeletal muscle atrophy Optic atrophy Behavioral abnormality Retinal arterial tortuosity Spastic tetraplegia Posterior leukoencephalopathy Leukoencephalopathy Spasticity Anteverted nares Spastic paraparesis Epicanthus Abnormal facial shape Paraparesis Hemiparesis Amblyopia Short stature Migraine Intracranial hemorrhage Infantile spasms Ectopia pupillae Supraventricular tachycardia Increased intraocular pressure Corneal neovascularization Anterior segment developmental abnormality Anterior synechiae of the anterior chamber Hypoplasia of the iris Hypopigmentation of the fundus Porencephalic cyst Posterior embryotoxon Migraine with aura Retinal hemorrhage Hemiplegia Neuritis Arterial tortuosity Rieger anomaly Polycoria Scotoma Congenital glaucoma Perivascular spaces Diffuse leukoencephalopathy Optic neuritis Blurred vision Retinal arteriolar tortuosity Peripapillary atrophy Midface retrusion Flexion contracture Osteoporosis Hyperammonemia Hypoketotic hypoglycemia Hypothermia Heart block Hypoplastic toenails Overfolded helix Ventricular arrhythmia Narrow palate Long toe Knee flexion contracture Elbow flexion contracture Sloping forehead Wide intermamillary distance Aciduria Coma Ureteral duplication Abnormality of nervous system morphology Tapered finger Hepatic calcification Elevated serum long-chain fatty acids Decreased plasma total carnitine Antenatal intracerebral hemorrhage Intracerebral periventricular calcifications Tapered toe Decreased plasma free carnitine Basal ganglia cysts Biventricular hypertrophy Elevated long chain fatty acids Increased muscle lipid content Nonketotic hypoglycemia Macrovesicular hepatic steatosis Increased total bilirubin Dicarboxylic aciduria Metabolic acidosis Bulbous nose Jaundice Large fontanelles Impulsivity Spinal muscular atrophy Progressive muscle weakness Rhizomelia Abnormality of epiphysis morphology Nephrolithiasis Abnormality of the face Severe hearing impairment Convex nasal ridge Esotropia Cirrhosis Dolichocephaly Respiratory tract infection Postnatal growth retardation Constriction of peripheral visual field Hypocholesterolemia Polymicrogyria Posteriorly rotated ears Hepatic failure Feeding difficulties in infancy Apnea Elevated hepatic transaminase Hypoglycemia Prominent forehead Agenesis of corpus callosum Progressive spinal muscular atrophy Respiratory distress Ventriculomegaly Fatigue Hyperreflexia Muscle cramps Very long chain fatty acid accumulation Tetraplegia Failure to thrive in infancy Microcornea Proteinuria Epiphyseal dysplasia Increased CSF protein Multiple epiphyseal dysplasia Miosis Abnormal renal physiology Short fourth metatarsal Muscle weakness Cleft palate Pain Abnormal heart morphology Diabetes mellitus Myalgia Vesicoureteral reflux Anosmia Ectodermal dysplasia Bilateral sensorineural hearing impairment Nephrotic syndrome Horizontal nystagmus Hypocalcemia Nephrocalcinosis Ischemic stroke Hyperkinesis Abnormality of the urinary system Polycystic ovaries Psoriasiform dermatitis Unilateral renal agenesis Progressive sensorineural hearing impairment Bilateral ptosis Progressive hearing impairment Hypoparathyroidism Narrow chest Patent ductus arteriosus Tremor Stage 5 chronic kidney disease Pancreatitis Arachnoid cyst Gout Tubular atrophy Kinetic tremor Pancreatic cysts Chronic pancreatitis Renal corticomedullary cysts Tubular basement membrane disintegration Talipes equinovarus Pulmonary hypoplasia Sensorimotor neuropathy Renal agenesis Femoral bowing Truncus arteriosus Asplenia Agenesis of cerebellar vermis Heterotaxy Pancreatic dysplasia Blindness Pes cavus Limb muscle weakness Polyneuropathy Sensory impairment Pigmentary retinopathy Basal ganglia calcification Severe postnatal growth retardation Hypopigmentation of the skin Intellectual disability, mild Fasciculations Severe muscular hypotonia CNS hypomyelination Hyponatremia Hypoventilation Increased CSF lactate Breech presentation Tongue fasciculations Microvesicular hepatic steatosis Strabismus Dysarthria Myopia Cerebellar atrophy Microphthalmia Pachygyria Headache Dilatation Depressivity Dementia Glaucoma Abnormality of the nervous system Corneal opacity Abnormality of the cerebral white matter Hypermetropia Astigmatism Tachycardia Nephropathy Retinal detachment Decreased liver function Renal hypoplasia Tetany Parathyroid hypoplasia Vaginal atresia Ovarian cyst Aplasia of the uterus Hypocalcemic seizures Uterus didelphys Distal renal tubular acidosis Proximal renal tubular acidosis Pseudopapilledema Septate vagina Thickening of the glomerular basement membrane Bilateral renal dysplasia Unilateral deafness Abnormality of T cell physiology Unilateral renal dysplasia Epileptic encephalopathy Anemia Short neck Hypoplasia of the corpus callosum Myopathy Cerebral atrophy Encephalopathy Areflexia Myoclonus Cerebral cortical atrophy Arthrogryposis multiplex congenita Lactic acidosis Delayed myelination Increased serum lactate Long-chain dicarboxylic aciduria



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