Cognitive impairment, and Hypertrophic cardiomyopathy

Diseases related with Cognitive impairment and Hypertrophic cardiomyopathy

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Hypertrophic cardiomyopathy 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 MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B


Mitochondrial DNA depletion syndrome-12B is an autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged-red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al., 2012).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Cataract
  • Ptosis
  • Cognitive impairment
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B

Low 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

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Other less relevant matches:

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 GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET


Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.

GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET Is also known as glycogenosis due to acid maltase deficiency, infantile onset|glycogen storage disease type ii, infantile onset|gsd type 2, infantile onset|alpha-1,4-glucosidase acid deficiency, infantile onset|gsd type ii, infantile onset|glycogenosis type ii, infantile

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia
  • Cognitive impairment
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET

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 CENTRAL CORE DISEASE OF MUSCLE; CCD


Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

Low 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

Low 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

Low match ATAXIA WITH VITAMIN E DEFICIENCY


Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.

ATAXIA WITH VITAMIN E DEFICIENCY Is also known as familial isolated vitamin e deficiency|aved|ataxia with isolated vitamin e deficiency|isolated vitamin e deficiency|friedreich-like ataxia|ataxia, friedreich-like, with selective vitamin e deficiency

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ATAXIA WITH VITAMIN E DEFICIENCY

Top 5 symptoms//phenotypes associated to Cognitive impairment and Hypertrophic cardiomyopathy

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Hypertrophic cardiomyopathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Increased serum lactate Lactic acidosis Acidosis Generalized hypotonia Arrhythmia Ataxia Encephalopathy Intrauterine growth retardation Respiratory insufficiency Dystonia Patent ductus arteriosus Scoliosis Neonatal hypotonia Mental deterioration Muscular hypotonia Ragged-red muscle fibers Dysphagia Hepatomegaly Fatigue Visual impairment Congestive heart failure Skeletal muscle atrophy Motor delay Peripheral neuropathy

Rare Symptoms - Less than 30% cases


Dilated cardiomyopathy Ophthalmoparesis Severe lactic acidosis Metabolic acidosis Gait disturbance Failure to thrive Bradycardia Polyhydramnios Areflexia Decreased activity of mitochondrial respiratory chain Tremor Intellectual disability Skeletal myopathy Elevated serum creatine phosphokinase Feeding difficulties in infancy Ptosis Respiratory distress Myopathy Cardiomegaly Myalgia Optic atrophy Growth delay Generalized muscle weakness Exercise intolerance Spasticity Decreased fetal movement Slurred speech Sagittal craniosynostosis Scaphocephaly Cystic hygroma Myeloproliferative disorder Pterygium Deep philtrum Juvenile myelomonocytic leukemia Hypoplastic nasal bridge Frontal bossing Mitral valve prolapse Downslanted palpebral fissures Minicore myopathy Short stature Hypertelorism Strabismus Abnormal facial shape Low-set ears High palate Epicanthus Macrocephaly Ventricular septal defect Webbed neck Anteverted nares Atrial septal defect Short nose Pectus excavatum Posteriorly rotated ears Craniosynostosis Leukemia Dolichocephaly Pulmonic stenosis Atrial septal dilatation Dysarthria Dysplastic pulmonary valve Dysdiadochokinesis Neurological speech impairment Malabsorption Lower limb muscle weakness Dysmetria Sensory neuropathy Hypertriglyceridemia Abnormality of retinal pigmentation Hypercholesterolemia Hemiplegia/hemiparesis Abnormal pyramidal sign Steatorrhea Abnormality of visual evoked potentials Spinocerebellar tract degeneration Fat malabsorption Increased LDL cholesterol concentration Xanthelasma Abetalipoproteinemia Vitamin E deficiency Nyctalopia Developmental regression Ventriculomegaly Decreased activity of mitochondrial complex I Respiratory failure Peripheral axonal neuropathy Sensorimotor neuropathy Severe muscular hypotonia Patent foramen ovale Apathy Rhabdomyolysis Optic neuropathy Concentric hypertrophic cardiomyopathy Abnormality of the nervous system Decreased activity of mitochondrial complex III Decreased activity of mitochondrial complex IV Nystagmus Generalized limb muscle atrophy Hypertonia Visual loss Pes cavus Rod-cone dystrophy Diabetes mellitus Stooped posture Ketonuria Type 1 muscle fiber predominance EMG abnormality Hypertension Hyperreflexia Intellectual disability, severe Abnormality of cardiovascular system morphology Dyspnea Chest pain Febrile seizures Multiple lipomas Astrocytosis Progressive sensorineural hearing impairment Progressive external ophthalmoplegia Mild global developmental delay Lower limb pain Increased serum pyruvate Increased adipose tissue Dilatation Sensorineural hearing impairment Motor deterioration Limb muscle weakness Mitochondrial myopathy Cataract Obesity Ophthalmoplegia Congenital cataract External ophthalmoplegia Dysphonia Gowers sign Cerebellar atrophy Hypoplastic left heart Cerebellar hypoplasia EEG abnormality Polyneuropathy Epileptic encephalopathy Neuronal loss in central nervous system Abnormality of mitochondrial metabolism Neonatal respiratory distress Gastroesophageal reflux Macroglossia Nemaline bodies Arthrogryposis multiplex congenita Talipes equinovarus Kyphoscoliosis Pes planus Proximal muscle weakness Facial palsy Hip dislocation Muscular dystrophy Talipes Flexion contracture Muscle cramps Congenital hip dislocation Limb-girdle muscular dystrophy Myopathic facies Spinal rigidity Centrally nucleated skeletal muscle fibers Malignant hyperthermia Fever Cleft palate Urinary incontinence Hypoglycemia Left ventricular hypertrophy Progressive muscle weakness Bowel incontinence Abnormality of refraction Diaphragmatic weakness Increased muscle glycogen content Abnormality of lysosomal metabolism Small for gestational age Hyperalaninemia Poor speech Tachycardia Ascites Infantile muscular hypotonia Pleural effusion Aspiration pneumonia Wolff-Parkinson-White syndrome Sinus bradycardia Tendon xanthomatosis



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