Cognitive impairment, and Congestive heart failure

Diseases related with Cognitive impairment and Congestive heart failure

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Congestive heart failure that can help you solving undiagnosed cases.


Top matches:

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23


Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23 Is also known as coxpd23

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23

Low match CARDIOMYOPATHY, DILATED, 1U; CMD1U


Related symptoms:

  • Cardiomyopathy
  • Congestive heart failure
  • Dementia
  • Dilated cardiomyopathy
  • Syncope


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1U; CMD1U

Low match CARDIOMYOPATHY, DILATED, 1V; CMD1V


Related symptoms:

  • Cardiomyopathy
  • Congestive heart failure
  • Dementia
  • Dilated cardiomyopathy
  • Syncope


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1V; CMD1V

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Other less relevant matches:

Low match SPINOCEREBELLAR ATAXIA TYPE 7


Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.

SPINOCEREBELLAR ATAXIA TYPE 7 Is also known as ataxia with pigmentary retinopathy|sca7|cerebellar syndrome-pigmentary maculopathy syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 7

Low match MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS


Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.

MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS Is also known as mtdna-related cardiomyopathy and hearing loss|trna-lys-related cardiomyopathy-hearing loss syndrome|maternally-inherited cardiomyopathy and deafness

Related symptoms:

  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS

Low match ACERULOPLASMINEMIA


Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

ACERULOPLASMINEMIA Is also known as hereditary ceruloplasmin deficiency

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACERULOPLASMINEMIA

Low match FAMILIAL ATRIAL MYXOMA


Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.

FAMILIAL ATRIAL MYXOMA Is also known as atrial myxoma, familial

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Fever
  • Atrial septal defect
  • Congestive heart failure


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FAMILIAL ATRIAL MYXOMA

Low match MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY


Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY Is also known as cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|coxpd10|combined oxidative phosphorylation defect type 10

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY

Low match PEROXISOME BIOGENESIS DISORDER 9B; PBD9B


While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1 ), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia (Braverman et al., 2002). In some cases this phenotype was indistinguishable from that of classic Refsum disease (OMIM ) and patients carried this diagnosis.Individuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see {214100}.

PEROXISOME BIOGENESIS DISORDER 9B; PBD9B Is also known as refsum disease, adult, 2|peroxisome biogenesis disorder, pex7-related, atypical

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 9B; PBD9B

Top 5 symptoms//phenotypes associated to Cognitive impairment and Congestive heart failure

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Dementia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Congestive heart failure. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Muscle weakness Dysarthria Spasticity Dilated cardiomyopathy Increased serum lactate Syncope Feeding difficulties Arrhythmia Hypertrophic cardiomyopathy

Rare Symptoms - Less than 30% cases


Ascites Confusion Motor delay Hyperreflexia Visual loss Mental deterioration Growth delay Ophthalmoparesis Sensorineural hearing impairment Poor speech Peripheral neuropathy Dystonia Fatigue Encephalopathy Chest pain Slurred speech Cardiomegaly Pulmonary edema Behavioral abnormality Failure to thrive Blindness Gait disturbance Generalized hypotonia Rigidity Lactic acidosis Acidosis Chorea Cerebral atrophy Babinski sign Dysphagia Tricuspid regurgitation Heart murmur Easy fatigability Cerebral hemorrhage Anosmia Ischemic stroke Neoplasm of the skin Cholestasis Distal lower limb amyotrophy Exertional dyspnea Mitral valve prolapse Thromboembolism Sensorimotor neuropathy Coma Hammertoe Jaundice Abnormality of skin pigmentation Polyneuritis Muscle fibrillation Increased serum ferritin Blepharospasm Cogwheel rigidity Scanning speech Refractory anemia Decreased serum ceruloplasmin Elevated hepatic iron concentration Short 5th metacarpal Decreased serum iron Aceruloplasminemia Fever Atrial septal defect Calcific stippling Headache Dilatation Growth hormone excess Dilatation of the cerebral artery Retinopathy Rhizomelia Severe lactic acidosis Bradycardia Infantile muscular hypotonia Pleural effusion Aspiration pneumonia Ketonuria Wolff-Parkinson-White syndrome Sinus bradycardia Hyperalaninemia Congenital cataract Decreased activity of mitochondrial respiratory chain Hearing impairment Cataract Flexion contracture Pes cavus Rod-cone dystrophy Autism Skeletal dysplasia Nyctalopia Hyperkinesis Progressive visual loss Cardiac myxoma Subarachnoid hemorrhage Autistic behavior Edema of the lower limbs Endocarditis Orthopnea Increased inflammatory response Bacterial endocarditis Pulmonic valve myxoma Metabolic acidosis Polyneuropathy Muscular hypotonia Hepatomegaly Optic atrophy Ichthyosis Hypoglycemia Small for gestational age Tachycardia Polyuria Delayed speech and language development Cerebral palsy Perseveration Global brain atrophy Insomnia Frontotemporal dementia Abnormal lower motor neuron morphology Supranuclear gaze palsy Disinhibition Primitive reflex Bulimia Amyotrophic lateral sclerosis Semantic dementia Nystagmus Cerebellar atrophy Reduced visual acuity Photophobia Neonatal hypotonia Ophthalmoplegia Dysmetria Agitation Emotional lability Psychosis Myocardial fibrosis Visual impairment Intrauterine growth retardation Feeding difficulties in infancy Abnormality of the cardiovascular system Myocardial infarction Bundle branch block Abnormal EKG Skeletal muscle atrophy Personality changes Respiratory insufficiency Edema Cerebral cortical atrophy Aggressive behavior Neuronal loss in central nervous system Stereotypy Respiratory insufficiency due to muscle weakness Apathy Sensory impairment Macular degeneration Torticollis Hypothyroidism Anemia Tremor Respiratory distress Hypertonia Depressivity Diabetes mellitus Gait ataxia Difficulty walking Increased serum pyruvate Retinal degeneration Cirrhosis Neurodegeneration Parkinsonism Memory impairment Abnormality of extrapyramidal motor function Involuntary movements Type I diabetes mellitus Increased adipose tissue Lower limb pain Cone/cone-rod dystrophy Abnormality of cardiovascular system morphology Dysdiadochokinesis Orofacial dyskinesia Restless legs Hemeralopia Abnormal fundus morphology Hypertension Intellectual disability, severe Dyspnea Mild global developmental delay Myalgia Febrile seizures EMG abnormality Exercise intolerance Ragged-red muscle fibers Multiple lipomas Progressive sensorineural hearing impairment Progressive external ophthalmoplegia Elevated levels of phytanic acid



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