Cardiomyopathy, and Patent ductus arteriosus

Diseases related with Cardiomyopathy and Patent ductus arteriosus

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Patent ductus arteriosus 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 LEFT VENTRICULAR NONCOMPACTION


Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.

LEFT VENTRICULAR NONCOMPACTION Is also known as spongy myocardium|lvnc|left ventricular hypertrabeculation|left ventricular noncompaction 1 with or without congenital heart defects

Related symptoms:

  • Abnormal facial shape
  • Ventricular septal defect
  • Respiratory distress
  • Congestive heart failure
  • Patent ductus arteriosus


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEFT VENTRICULAR NONCOMPACTION

Medium match GRANGE SYNDROME


Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.

GRANGE SYNDROME Is also known as arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly|grange occlusive arterial syndrome|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GRANGE SYNDROME

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Other less relevant matches:

Medium match NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME


Primary coenzyme Q10 deficiency-7 is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rare patients may have later onset with a more protracted course. Tissue samples from affected individuals show decreased levels of coenzyme Q10 (CoQ10) (summary by Brea-Calvo et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (OMIM ).

NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME Is also known as coq4-related neonatal encephalomyopathy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Feeding difficulties
  • Intrauterine growth retardation


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME

Medium match SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1


Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first months or years of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone FracturesSee also SMABF2 (OMIM ), caused by mutation in the ASCC1 gene (OMIM ) on chromosome 10q22.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1

Medium match NOONAN SYNDROME 3; NS3


Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

Medium match FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3


Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.

FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3 Is also known as fatal mitochondrial disease due to coxpd3|encephalomyopathy, respiratory failure, and lactic acidosis|concentric cardiomyopathy, hypotonia, and lactic acidosis

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3

Medium match ACYL-COA DEHYDROGENASE 9 DEFICIENCY


Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.

ACYL-COA DEHYDROGENASE 9 DEFICIENCY Is also known as acyl-coa dehydrogenase 9 deficiency|acad9 deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ACYL-COA DEHYDROGENASE 9 DEFICIENCY

Medium match NOONAN SYNDROME 8; NS8


Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

Medium match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE


Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Patent ductus arteriosus

Symptoms // Phenotype % cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Patent ductus arteriosus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cognitive impairment Pulmonic stenosis Encephalopathy Lactic acidosis Epicanthus Muscular hypotonia Failure to thrive Acidosis Scoliosis Left ventricular hypertrophy Severe muscular hypotonia Seizures Renal insufficiency Global developmental delay Congestive heart failure Respiratory distress Abnormal facial shape Increased serum lactate

Rare Symptoms - Less than 30% cases


Abnormal cardiac septum morphology Respiratory insufficiency Short stature Edema Increased susceptibility to fractures Intellectual disability Myopathy Decreased fetal movement Dysphagia Intrauterine growth retardation Ventricular hypertrophy Feeding difficulties Hyperextensible skin Abnormal heart morphology Ptosis Patent foramen ovale Respiratory failure Neonatal respiratory distress Downslanted palpebral fissures Low-set ears Webbed neck Decreased activity of mitochondrial respiratory chain Elevated serum creatine phosphokinase Sudden cardiac death Dilated cardiomyopathy Metabolic acidosis Flexion contracture Neonatal hypotonia Macrocephaly Exercise intolerance High palate Leukemia Polyhydramnios Hypoplastic left heart Peripheral neuropathy Severe lactic acidosis Decreased activity of mitochondrial complex I Atrial septal defect Skeletal muscle atrophy Peripheral axonal neuropathy Hyperkeratosis Acute hepatic failure Fatigable weakness Generalized edema Decreased plasma carnitine Hypoglycemia EMG: myopathic abnormalities Concentric hypertrophic cardiomyopathy Hepatomegaly Optic atrophy Tremor Ventriculomegaly Dystonia Feeding difficulties in infancy Sensorimotor neuropathy Ragged-red muscle fibers Apathy Rhabdomyolysis Optic neuropathy Decreased activity of mitochondrial complex III Infantile muscular hypotonia Decreased activity of mitochondrial complex IV Thrombocytopenia Depressivity Elevated hepatic transaminase Myalgia Stroke Hepatic failure Hepatic steatosis Generalized muscle weakness Decreased liver function Hyperammonemia Cerebral edema Hepatic fibrosis Prolonged prothrombin time Poor head control Umbilical hernia Pes planus Scarring Muscular dystrophy Abnormality of the foot Joint hypermobility Bruising susceptibility Microcornea Waddling gait Sloping forehead Hypotelorism Blue sclerae Cutis laxa Easy fatigability Kyphoscoliosis Poor suck Congenital muscular dystrophy Disproportionate tall stature Difficulty climbing stairs Atrophic scars Soft skin Follicular hyperkeratosis Cleft soft palate Bladder diverticulum Keloids High-frequency sensorineural hearing impairment Arterial rupture Abnormal eye morphology Osteopenia Inguinal hernia Proximal tubulopathy Hyperpigmentation of the skin Microvesicular hepatic steatosis Dicarboxylic aciduria Macrovesicular hepatic steatosis Nonketotic hypoglycemia Elevated creatine kinase after exercise Increased lactate dehydrogenase activity Elevated plasma acylcarnitine levels Cerebellar hemorrhage Cryptorchidism Delayed speech and language development Short neck Abnormality of the cardiovascular system Low posterior hairline Relative macrocephaly Hernia Systemic lupus erythematosus Pleural effusion Abnormality of the sternum Curly hair Acute lymphoblastic leukemia Graves disease Chylothorax Palmoplantar cutis laxa Hearing impairment Sensorineural hearing impairment Motor delay Myopia Gait disturbance Talipes equinovarus Visual impairment Frontal bossing Growth delay Clinodactyly Permanent atrial fibrillation Left ventricular noncompaction cardiomyopathy Noncompaction cardiomyopathy Abnormality of the fascia Renal cyst Pain Hypertension Brachydactyly Syndactyly Dilatation Abdominal pain Right ventricular failure Short palm Recurrent fractures Specific learning disability Decreased body weight Finger clinodactyly Aortic regurgitation Cutaneous syndactyly Bicuspid aortic valve Cutaneous finger syndactyly Perimembranous ventricular septal defect Gastritis Biventricular hypertrophy Abnormal thrombosis Intellectual disability, borderline Hydrops fetalis Aortic valve stenosis Polycystic kidney dysplasia Nephronophthisis Enlarged kidney Cholestasis Arrhythmia Tachycardia Syncope Atrial fibrillation Mitral regurgitation Ventricular tachycardia Abnormal left ventricle morphology Ventricular arrhythmia Atrioventricular block Bundle branch block Right bundle branch block Pulmonary embolism Left bundle branch block Wolff-Parkinson-White syndrome Concave nasal ridge Restrictive cardiomyopathy Left ventricular noncompaction Abnormal myocardium morphology Arterial stenosis Coronary artery stenosis Ataxia Craniosynostosis Muscle fiber atrophy Diaphragmatic eventration Fractures of the long bones Multiple prenatal fractures Strabismus Situs inversus totalis Anteverted nares Short nose Pectus excavatum Posteriorly rotated ears Dolichocephaly Axonal loss Mitral valve prolapse Deep philtrum Pterygium Cystic hygroma Scaphocephaly Sagittal craniosynostosis Myeloproliferative disorder Hypoplastic nasal bridge Juvenile myelomonocytic leukemia Atrial septal dilatation Dysplastic pulmonary valve Secundum atrial septal defect Generalized amyotrophy Renal artery stenosis Motor deterioration Renovascular hypertension Carotid artery stenosis Cerebellar atrophy Cerebellar hypoplasia EEG abnormality Mental deterioration Polyneuropathy Epileptic encephalopathy Neuronal loss in central nervous system Bradycardia Abnormality of mitochondrial metabolism Astrocytosis Increased variability in muscle fiber diameter Abnormality of the kidney Areflexia Narrow mouth Arthrogryposis multiplex congenita Pulmonary hypoplasia Premature birth Oligohydramnios Hypohidrosis Microretrognathia Congenital contracture Spinal muscular atrophy Aortic rupture



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Hypoglycemia, related diseases and genetic alterations Wide nasal bridge and Encephalocele, related diseases and genetic alterations Hydrocephalus and Pruritus, related diseases and genetic alterations Epicanthus and Neuroblastoma, related diseases and genetic alterations

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