Congestive heart failure, and Cerebellar atrophy

Diseases related with Congestive heart failure and Cerebellar atrophy

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


Top matches:

Medium 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

Medium match SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2


Spinocerebellar ataxia with axonal neuropathy type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.

SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2 Is also known as ataxia-oculomotor apraxia 2|scan 2|scar1|ataxia-ocular apraxia 2|aoa2|ataxia-oculomotor apraxia type 2

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2

Medium match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME


Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME Is also known as mitochondrial dna maintenance syndrome due to mgme1 deficiency|peo-myopathy-emaciation syndrome|mtdna maintenance syndrome due to mgme1 deficiency

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Muscle weakness
  • Ptosis
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME

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Other less relevant matches:

Medium match INFANTILE SIALIC ACID STORAGE DISEASE; ISSD


Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

INFANTILE SIALIC ACID STORAGE DISEASE; ISSD Is also known as nsd|sialuria, infantile form|n-acetylneuraminic acid storage disease|nana storage disease

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INFANTILE SIALIC ACID STORAGE DISEASE; ISSD

Medium match TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY


Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY

Medium match FRIEDREICH ATAXIA


Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

Medium match MERRF


MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures.

MERRF Is also known as fukuhara syndrome|myoclonus epilepsy associated with ragged-red fibres|merrf syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MERRF

Low match D-BIFUNCTIONAL PROTEIN DEFICIENCY


D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

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 VICI SYNDROME


Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

Top 5 symptoms//phenotypes associated to Congestive heart failure and Cerebellar atrophy

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

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

Common Symptoms - More than 50% cases


Nystagmus

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Ptosis Failure to thrive Abnormal facial shape Dysphagia Muscular hypotonia Peripheral neuropathy Optic atrophy Skeletal muscle atrophy Hearing impairment Hypertrophic cardiomyopathy Generalized hypotonia Arrhythmia Kyphosis Dilated cardiomyopathy Respiratory failure Recurrent infections Microcephaly Epicanthus Respiratory insufficiency Gait imbalance High palate Aspiration Hepatomegaly Hypospadias Depressed nasal bridge Pneumonia Heterotopia Short stature Left ventricular hypertrophy Spasticity Acidosis Long philtrum Anteverted nares Low-set ears Cataract Growth delay Peripheral demyelination Premature birth Severe global developmental delay Osteopenia Dilatation Sensory axonal neuropathy Cerebral cortical atrophy Neonatal hypotonia Motor delay Abnormality of the foot Sensory impairment Elevated serum creatine phosphokinase Dysarthria Sensory neuropathy Ophthalmoplegia Visual loss Babinski sign Cognitive impairment Tremor Scoliosis

Rare Symptoms - Less than 30% cases


Dementia Nephrotic syndrome Intrauterine growth retardation Hypertension Dysmetria Immunodeficiency Fetal ascites Strabismus Fair hair Sensorineural hearing impairment Dysdiadochokinesis Inguinal hernia Ascites Ophthalmoparesis Corneal opacity Abnormality of the liver Developmental regression Respiratory tract infection EEG abnormality Hypoplasia of the corpus callosum Coarse facial features Myopathy Edema Micrognathia Retrognathia Mental deterioration Cellular immunodeficiency Cerebral atrophy Palpitations Combined immunodeficiency Ventricular hypertrophy Abnormal cerebellum morphology Hammertoe Optic neuropathy Lymphopenia Abnormality of movement Depressivity Respiratory distress Talipes equinovarus Fatigue Visual impairment Reduced visual acuity Hypertelorism Subvalvular aortic stenosis Progressive cerebellar ataxia Neutropenia Encephalitis Abnormal echocardiogram Aplasia/Hypoplasia of the corpus callosum Abnormal immunoglobulin level Intention tremor Pulmonary arterial hypertension Increased serum lactate Sinus tachycardia Lactic acidosis Abnormality of the kidney Abnormality of the cerebral white matter Dystonia Hypopigmentation of the skin Progressive external ophthalmoplegia Impaired proprioception Cerebellar hypoplasia Pes cavus Renal insufficiency Gait ataxia Diarrhea Abnormal pyramidal sign Peripheral axonal neuropathy Diffuse cerebellar atrophy Pontocerebellar atrophy Gliosis Polymicrogyria Hyporeflexia Urinary bladder sphincter dysfunction Feeding difficulties in infancy Decreased motor nerve conduction velocity Right ventricular cardiomyopathy Slurred speech Truncal ataxia Limb ataxia Ventriculomegaly Feeding difficulties Neurodegeneration Chorea Hypogonadism Hyperreflexia Dyspnea Limb muscle weakness Aspiration pneumonia Exercise intolerance Hepatic steatosis Migraine External ophthalmoplegia Stage 5 chronic kidney disease Chronic kidney disease Areflexia Ragged-red muscle fibers Upslanted palpebral fissure Enterocolitis Polyhydramnios Decreased testicular size High forehead Adrenal hypoplasia Lumbar hyperlordosis Elevated hepatic transaminase Waddling gait Lymphoma Brain atrophy Dolichocephaly Talipes Nephropathy Microdontia Abnormal form of the vertebral bodies Intellectual disability, profound Hyperlipidemia Glomerulosclerosis Bile duct proliferation Coarse hair Reduced bone mineral density Undetectable electroretinogram Macrocephaly Azoospermia Frontal bossing Fine hair Atherosclerosis Opacification of the corneal stroma Bone marrow hypocellularity Pectus excavatum Delayed skeletal maturation Abnormality of epiphysis morphology Renal cyst Abnormal lung morphology Cerebral dysmyelination Bulbous nose Scaphocephaly Vomiting Delayed cranial suture closure Thin upper lip vermilion Decreased nerve conduction velocity Hypothyroidism Thrombocytopenia Headache Glomerulonephritis Abnormality of the dentition Short neck Progressive hearing impairment Fever Myopia Decreased muscle mass Anemia Generalized cerebral atrophy/hypoplasia Calcific stippling Renal cortical microcysts Chylous ascites Thoracic hypoplasia Proteinuria Aplasia/Hypoplasia of the cerebellum Cholestasis Abdominal distention Cerebral hypoplasia Progressive visual loss Abnormality of skin pigmentation Astigmatism Malabsorption Split hand Primary adrenal insufficiency Platyspondyly Large fontanelles Hip dislocation Stroke Autoimmunity Corpus callosum atrophy Scarring White matter neuronal heterotopia Hyperlordosis Cortical dysplasia Pachygyria Epiphyseal dysplasia Abnormality of the cerebellar vermis Nephritis Decreased liver function Macular atrophy Neurodevelopmental delay Albinism Congenital sensorineural hearing impairment Poor suck Adducted thumb Infantile muscular hypotonia Leukopenia Recurrent bacterial infections Increased body weight Progressive microcephaly Abnormality of retinal pigmentation Schizencephaly Decreased body weight Frontoparietal polymicrogyria Open mouth Cutaneous anergy Progressive neurologic deterioration Cerebellar vermis hypoplasia Decreased T cell activation Hypotelorism Aplasia/Hypoplasia of the macula Narrow forehead Decreased antibody level in blood Bronchitis Abnormal macular morphology Sepsis Abnormal cortical gyration Abnormality of the thymus Abnormality of the optic disc Recurrent aspiration pneumonia Decreased proportion of CD4-positive T cells Abnormality of the mandible Granulocytopenia Abnormal posturing Recurrent fungal infections Hypopigmentation of the fundus Hypoplasia of the thymus Recurrent viral infections Chronic mucocutaneous candidiasis Centrally nucleated skeletal muscle fibers Hypoplasia of the pons Renal tubular dysfunction Ocular albinism Depressed nasal tip Muscle flaccidity Severe failure to thrive IgG deficiency Severe sensorineural hearing impairment Hypopigmentation of hair Abnormality of immune system physiology Renal tubular acidosis Delayed myelination Ureteral atresia Melanocytic nevus Ovoid vertebral bodies Multiple lentigines Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Dentinogenesis imperfecta Precocious atherosclerosis Cerebral ischemia Villous atrophy Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Thoracic kyphosis Increased thyroid-stimulating hormone level Transient ischemic attack Abnormality of the vasculature Protuberant abdomen Glomerulopathy Multiple cafe-au-lait spots Steatorrhea Hypermelanotic macule High pitched voice Emphysema Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Shallow acetabular fossae Encephalomalacia Triangular face Cleft lip Sleep disturbance High, narrow palate Thick vermilion border Wide nose Pulmonary hypoplasia Cleft upper lip Congenital cataract Immunoglobulin IgG2 deficiency Penile hypospadias Joint stiffness Postnatal growth retardation Muscular hypotonia of the trunk Abnormal T cell morphology Rod-cone dystrophy Severe T-cell immunodeficiency Recurrent respiratory infections Agenesis of corpus callosum Hypertonia Cleft palate Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Steroid-resistant nephrotic syndrome Cerebellar cortical atrophy Basal ganglia necrosis Conjugated hyperbilirubinemia Wide mouth Intellectual disability, moderate Umbilical hernia Encephalopathy Wide nasal bridge Flexion contracture Cryptorchidism J-shaped sella turcica Vacuolated lymphocytes Visceromegaly Dysostosis multiplex Short philtrum Esophageal atresia Metaphyseal irregularity Abnormality of the thorax Hydrops fetalis Gingival overgrowth Cardiomegaly Hepatosplenomegaly Hernia Splenomegaly Hydrocephalus Camptodactyly of finger Small for gestational age Spinal deformities Abnormal pulmonary valve morphology Lower limb muscle weakness Abnormality of eye movement Pallor Difficulty walking Pes planus Kyphoscoliosis Hyperactivity Diabetes mellitus Gait disturbance Pain Gastroparesis Flat face Hyperalaninemia 3-Methylglutaconic aciduria Moderate global developmental delay Abnormal aortic valve morphology Flat occiput Hyperammonemia Leukoencephalopathy Microretrognathia Interphalangeal joint contracture of finger Oligohydramnios Aciduria Abnormality of the skeletal system Proximal amyotrophy Vertigo Distal sensory impairment Hypoalbuminemia Hypercholesterolemia Oculomotor apraxia Sensorimotor neuropathy Diplopia Telangiectasia Choreoathetosis Apraxia Abnormality of extrapyramidal motor function Polyneuropathy Distal amyotrophy Postural tremor Distal muscle weakness Abnormal fundus morphology Hemeralopia Restless legs Orofacial dyskinesia Cone/cone-rod dystrophy Macular degeneration Psychosis Photophobia Blindness Premature ovarian insufficiency Increased antibody level in blood Spinal rigidity Facial palsy Generalized amyotrophy Nasal speech Dysphonia Easy fatigability Respiratory insufficiency due to muscle weakness Hypergonadotropic hypogonadism Primary amenorrhea Amenorrhea Generalized muscle weakness Nausea Proximal muscle weakness Gaze-evoked nystagmus Impaired distal tactile sensation Chronic axonal neuropathy Impaired distal vibration sensation Elevated alpha-fetoprotein Conjunctival telangiectasia Saccadic smooth pursuit Decreased number of large peripheral myelinated nerve fibers Head tremor Impaired smooth pursuit Progressive gait ataxia Cerebellar vermis atrophy Unsteady gait Tachycardia Global systolic dysfunction Hepatic failure Abnormality of mitochondrial metabolism Hyperkinesis EMG: myopathic abnormalities Delayed gross motor development Ventricular tachycardia EMG abnormality Status epilepticus Hepatitis Generalized-onset seizure Generalized myoclonic seizures Generalized tonic-clonic seizures Mildly elevated creatine phosphokinase Neurological speech impairment Myoclonus Behavioral abnormality Atrophic superior cerebellar peduncle Impaired visually enhanced vestibulo-ocular reflex Structural foot deformity Abolished vibration sense Spinal cord posterior columns myelin loss Palmar hyperhidrosis Temporal optic disc pallor Right bundle branch block Multiple lipomas Decreased pyruvate carboxylase activity Portal fibrosis Lacticaciduria Weakness of facial musculature Abnormality of thalamus morphology EEG with irregular generalized spike and wave complexes EEG with photoparoxysmal response Fatty replacement of skeletal muscle Cytochrome C oxidase-negative muscle fibers Abnormality of brainstem morphology Decreased activity of mitochondrial respiratory chain Increased serum pyruvate Stroke-like episode Muscle fibrillation Wolff-Parkinson-White syndrome Increased CSF lactate Supraventricular tachycardia Abnormality of the endocrine system Diffuse cerebral atrophy Intrahepatic cholestasis Motor axonal neuropathy Ventricular extrasystoles Mitochondrial myopathy Lipoma Hyperthyroidism Abnormality of the dentate nucleus Mitochondrial malic enzyme reduced Falls Spastic paraparesis Abnormal EKG Thoracic scoliosis Hyperactive deep tendon reflexes Visual field defect Glucose intolerance Impaired vibratory sensation Cachexia Incoordination Ventricular arrhythmia Reduced tendon reflexes Paraparesis Heart block Muscle stiffness Insulin resistance Spastic gait Lower limb spasticity Involuntary movements Clumsiness Atrial fibrillation Optic disc pallor Chest pain Inability to walk Abnormality of visual evoked potentials Ketosis Cervical spinal cord atrophy Hand muscle atrophy Muscular subvalvular aortic stenosis Decreased amplitude of sensory action potentials Hemifacial hypertrophy Abnormality of the autonomic nervous system Incomprehensible speech Upper limb amyotrophy Concentric hypertrophic cardiomyopathy Diabetic ketoacidosis Decreased sensory nerve conduction velocity Reduced systolic function Abnormal saccadic eye movements Ketoacidosis Abnormality of cardiovascular system physiology Positive Romberg sign Lower limb amyotrophy Poor fine motor coordination T-wave inversion Asymmetric septal hypertrophy Spinocerebellar tract degeneration Hyposmia Areflexia of lower limbs Myocardial fibrosis Increased reactive oxygen species production Acute bronchitis



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