Cardiomyopathy, and Polycystic kidney dysplasia

Diseases related with Cardiomyopathy and Polycystic kidney dysplasia

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


Top matches:

Medium 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

Medium 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

Medium 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

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Other less relevant matches:

Medium match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Medium match BECKWITH-WIEDEMANN SYNDROME; BWS


Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010).Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder.

BECKWITH-WIEDEMANN SYNDROME; BWS Is also known as emg syndrome|exomphalos-macroglossia-gigantism syndrome|wiedemann-beckwith syndrome|wbs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME; BWS

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

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 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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Polycystic kidney dysplasia

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

Patients with Cardiomyopathy and Polycystic kidney dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Intellectual disability Hepatomegaly Respiratory failure Renal dysplasia Enlarged kidney Respiratory insufficiency Cataract Acidosis Generalized hypotonia Abnormality of the kidney Hydronephrosis Hypertrophic cardiomyopathy Lethargy Dilated cardiomyopathy Neonatal hypotonia Pulmonary hypoplasia Hypoglycemia Elevated serum creatine phosphokinase Hypertension Pain Microcephaly Arrhythmia Sensorineural hearing impairment Nystagmus Congestive heart failure Respiratory distress Feeding difficulties Hepatic steatosis

Rare Symptoms - Less than 30% cases


Hyperammonemia Oligohydramnios Aciduria Abnormality of the cerebral white matter Coma Metabolic acidosis Muscle cramps Pancreatic cysts Abnormality of the foot Hyperkalemia High forehead Cerebral hemorrhage Increased muscle lipid content Ketosis Myopathy Hyporeflexia Peripheral neuropathy Limb muscle weakness Tetraplegia Increased serum lactate Pachygyria Areflexia Encephalopathy Depressivity Headache Decreased liver function Leukodystrophy Edema Hypoketotic hypoglycemia Tremor Macrocephaly Dysarthria Pancreatitis Abnormal facial shape Strabismus Fatigue Ataxia Retinal degeneration Hemiplegia Congenital cataract Nonketotic hypoglycemia Cystic renal dysplasia Failure to thrive Elevated hepatic transaminase Lactic acidosis Abnormal heart morphology Nephrocalcinosis Multicystic kidney dysplasia Myoclonus Vesicoureteral reflux Hematuria Stroke Myalgia Rod-cone dystrophy Ptosis Renal tubular acidosis Cleft palate Muscle weakness Nephronophthisis Aortic valve stenosis Situs inversus totalis Hepatic fibrosis Cholestasis Pulmonic stenosis Intellectual disability, mild Chronic kidney disease Muscular hypotonia Renal cortical cysts Large hands Gonadoblastoma Attention deficit hyperactivity disorder Hamartoma Renal corticomedullary cysts Joint hypermobility Broad palm Chronic pancreatitis Kinetic tremor Tubular atrophy Hypoplasia of the thymus Congenital hypothyroidism Postaxial polydactyly Gout Tibial bowing Arachnoid cyst Postural instability Abdominal distention Neuroblastoma Hemihypertrophy Prominent metopic ridge Wide mouth Intellectual disability, moderate Foot polydactyly Protuberant abdomen Aniridia Heterotaxy Agenesis of cerebellar vermis Diastasis recti Asplenia Abnormality of the ear Truncus arteriosus Femoral bowing Nonimmune hydrops fetalis Renal agenesis Narrow chest Talipes equinovarus Tubular basement membrane disintegration Macroglossia Prominent occiput Nephroblastoma Teratoma Large fontanelles Large for gestational age Prune belly Embryonal neoplasm Hepatoblastoma Nephrolithiasis Abdominal wall defect Diaphragmatic eventration Recurrent urinary tract infections Accelerated skeletal maturation Abnormality of the outer ear Unilateral cryptorchidism Rhabdomyosarcoma Growth abnormality Prominent supraorbital ridges Hypercalciuria Abnormality of the tongue Flank pain Omphalocele Visceromegaly Vitreomacular adhesion Stage 5 chronic kidney disease Congenital mesoblastic nephroma Pancreatoblastoma Fibrous hamartoma Pancreatic hyperplasia Nevus Overgrowth of external genitalia Adrenocortical cytomegaly Neonatal hypoglycemia Overgrowth Dandy-Walker malformation Nephroblastomatosis Thymus hyperplasia Abdominal mass Opsoclonus Posterior helix pit Ganglioneuroma Adrenocortical carcinoma Nevus flammeus Elevated levels of phytanic acid Pancreatic dysplasia Hemiparesis Scotoma Congenital glaucoma Blurred vision Intracranial hemorrhage Dysphonia Leukoencephalopathy Spastic paraparesis Paraparesis Amblyopia Spastic tetraplegia Posterior embryotoxon Migraine Microcornea Hypopigmentation of the skin Retinal detachment Nephropathy Tachycardia Astigmatism Hypermetropia Corneal opacity Retinopathy Infantile spasms Hypoplasia of the iris Abnormality of the nervous system Rieger anomaly Posterior leukoencephalopathy Retinal arterial tortuosity Right hemiplegia Peripapillary atrophy Retinal arteriolar tortuosity Optic neuritis Diffuse leukoencephalopathy Perivascular spaces Polycoria Arterial tortuosity Increased intraocular pressure Neuritis Retinal hemorrhage Migraine with aura Porencephalic cyst Hypopigmentation of the fundus Anterior synechiae of the anterior chamber Anterior segment developmental abnormality Corneal neovascularization Supraventricular tachycardia Ectopia pupillae Facial palsy Glaucoma Delayed speech and language development Bilateral ptosis Conductive hearing impairment Hyperoxaluria Short fourth metatarsal Abnormal renal physiology Miosis Multiple epiphyseal dysplasia Increased CSF protein Epiphyseal stippling Epiphyseal dysplasia Anosmia Short neck Progressive hearing impairment Sensorimotor neuropathy Pigmentary retinopathy Sensory impairment Polyneuropathy Ichthyosis Nyctalopia Pes cavus Blindness Wide nasal bridge Anemia Hypoplasia of the corpus callosum Dementia Hypoventilation Dilatation Microphthalmia Cerebellar atrophy Myopia Visual impairment Microvesicular hepatic steatosis Tongue fasciculations Breech presentation Increased CSF lactate Hyponatremia Cerebral atrophy Failure to thrive in infancy CNS hypomyelination Severe muscular hypotonia Fasciculations Renal hypoplasia Epileptic encephalopathy Delayed myelination Arthrogryposis multiplex congenita Cerebral cortical atrophy Absent speech Carcinoma Abnormality of the renal tubule Umbilical hernia Heart block Macrovesicular hepatic steatosis Increased total bilirubin Dicarboxylic aciduria Biventricular hypertrophy Abnormality of nervous system morphology Long toe Ureteral duplication Hypothermia Hypoplastic toenails Basal ganglia cysts Overfolded helix Ventricular arrhythmia Narrow palate Knee flexion contracture Elbow flexion contracture Sloping forehead Wide intermamillary distance Tapered finger Bulbous nose Elevated long chain fatty acids Hepatic calcification Hepatic failure Gait disturbance Jaundice Arthralgia Dyspnea Weight loss Gait ataxia Behavioral abnormality Diarrhea Vomiting Dysphagia Fever Decreased plasma free carnitine Motor delay Depressed nasal bridge Spasticity Long-chain dicarboxylic aciduria Elevated serum long-chain fatty acids Decreased plasma total carnitine Antenatal intracerebral hemorrhage Intracerebral periventricular calcifications Tapered toe Polymicrogyria Feeding difficulties in infancy Proximal muscle weakness Hyperkinesis Severe postnatal growth retardation Hypoparathyroidism Basal ganglia calcification Progressive sensorineural hearing impairment Unilateral renal agenesis Psoriasiform dermatitis Polycystic ovaries Abnormality of the urinary system Ischemic stroke Vaginal atresia Hypocalcemia Horizontal nystagmus Nephrotic syndrome Bilateral sensorineural hearing impairment Ectodermal dysplasia Proteinuria Diabetes mellitus Growth delay Patent ductus arteriosus Tetany Ovarian cyst Apnea Parathyroid hypoplasia Prominent forehead Posteriorly rotated ears Agenesis of corpus callosum Ventriculomegaly Hyperreflexia High palate Flexion contracture Low-set ears Unilateral renal dysplasia Abnormality of T cell physiology Aplasia of the uterus Unilateral deafness Bilateral renal dysplasia Thickening of the glomerular basement membrane Septate vagina Pseudopapilledema Proximal renal tubular acidosis Distal renal tubular acidosis Uterus didelphys Hypocalcemic seizures Difficulty walking Telecanthus Coarse facial features Impaired mastication Elevated plasma acylcarnitine levels Ketotic hypoglycemia Glutaric acidemia Arthralgia of the hip Gastrointestinal inflammation Narcolepsy Cataplexy Limb tremor Hypoglycemic coma Reye syndrome-like episodes Personality disorder Progressive spastic quadriplegia Glutaric aciduria Oliguria Generalized aminoaciduria Respiratory arrest Acute pancreatitis Loss of ability to walk Abnormal corpus callosum morphology Reduced protein C activity Ethylmalonic aciduria Proximal tubulopathy Intrauterine growth retardation Polyhydramnios Hypothyroidism Proptosis Polydactyly Hyperactivity Hernia Midface retrusion Short nose Atrial septal defect Cryptorchidism Hypersarcosinemia Neoplasm Hypertelorism Abnormality of blood glucose concentration Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Episodic vomiting Medulloblastoma Hyperlordosis Abnormality of the genital system Exercise intolerance Type I diabetes mellitus Cardiac arrest Clonus Wide anterior fontanel Anorexia Left ventricular hypertrophy Heterotopia Tetraparesis Spastic tetraparesis Waddling gait Gliosis Generalized muscle weakness Nausea Joint hyperflexibility Nausea and vomiting Abnormality of the liver Respiratory tract infection Abnormality of the pinna Scapular winging Ragged-red muscle fibers Exercise-induced myalgia Acute kidney injury Organic aciduria Chronic fatigue Excessive daytime somnolence Ketonuria Cardiorespiratory arrest Progressive proximal muscle weakness Myoglobinuria Drowsiness Fatigable weakness Rhabdomyolysis Mutism Glycosuria Difficulty climbing stairs Restrictive ventilatory defect Ventricular fibrillation Stridor Back pain Slurred speech Easy fatigability Poor head control Thalamic hemorrhage



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