Cardiomyopathy, and Autism

Diseases related with Cardiomyopathy and Autism

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


Top matches:

Medium match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 3


Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 3 Is also known as naga deficiency type 3|schindler disease type 3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 3

Medium match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1


Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1 Is also known as schindler disease type 1|naga deficiency type 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1

Medium match CYCLIC VOMITING SYNDROME; CVS


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CYCLIC VOMITING SYNDROME; CVS

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Other less relevant matches:

Medium match ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD


Inborn errors of mitochondrial fatty acid beta-oxidation include medium-chain acyl-CoA dehydrogenase deficiency (OMIM ), short-chain acyl-CoA dehydrogenase deficiency (OMIM ), and very long-chain acyl-CoA dehydrogenase deficiency.VLCAD deficiency can be classified clinically into 3 forms: a severe early-onset form with high incidence of cardiomyopathy and high mortality; an intermediate form with childhood onset, usually with hypoketotic hypoglycemia and more favorable outcome; and an adult-onset, myopathic form with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria after exercise or fasting (Andresen et al., 1999).Patients reported with long-chain acyl-CoA dehydrogenase (LCAD) deficiency before VLCAD deficiency was defined were later found to have VLCAD deficiency (Strauss et al., 1995; Roe and Ding, 2001).

ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD Is also known as vlcad deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD

Medium 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

Medium match SEPTOOPTIC DYSPLASIA


Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010).Also see {516020.0012} for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.

SEPTOOPTIC DYSPLASIA Is also known as de morsier syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SEPTOOPTIC DYSPLASIA

Medium match SCHINDLER DISEASE, TYPE I


Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (OMIM ), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).

SCHINDLER DISEASE, TYPE I Is also known as neuroaxonal dystrophy, schindler type|naga deficiency, type i|alpha-n-acetylgalactosaminidase deficiency, type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHINDLER DISEASE, TYPE I

Medium match 16Q24.3 MICRODELETION SYNDROME


16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.

16Q24.3 MICRODELETION SYNDROME Is also known as monosomy 16q24.3|del(16)(q24.3)

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 16Q24.3 MICRODELETION SYNDROME

Medium match TIMOTHY SYNDROME


Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

Medium match SOTOS SYNDROME 3; SOTOS3


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Autism

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Autism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Muscular hypotonia Strabismus Hepatomegaly Nystagmus Cardiomegaly Autistic behavior Hypoglycemia Cognitive impairment Optic nerve hypoplasia Cryptorchidism Exercise intolerance Behavioral abnormality Myopathy Growth delay Arrhythmia Hypothyroidism Cataract Vertigo Muscle weakness Peripheral neuropathy

Rare Symptoms - Less than 30% cases


Intellectual disability, severe Hyperactivity Optic atrophy Gastroesophageal reflux Encephalopathy Dilated cardiomyopathy Thick vermilion border Congestive heart failure Sudden cardiac death Spasticity Coarse facial features Cardiac arrest Scoliosis Constipation Abnormality of cardiovascular system morphology Colpocephaly Blindness Long face Skeletal dysplasia Congenital cataract Hypocalcemia Severe global developmental delay Visual impairment Hypoplasia of the corpus callosum Syndactyly Obesity Myoclonus Coma Myopia Ataxia Lymphedema Cerebral visual impairment Vomiting Dysphagia Developmental regression Lethargy Generalized amyotrophy Ventricular septal defect Wide mouth Fever Pain Patent foramen ovale Recurrent infections Atrioventricular block Ventricular arrhythmia Hip dysplasia Ventricular tachycardia Abnormality of dental enamel Cutaneous syndactyly 2-3 toe syndactyly Obsessive-compulsive behavior Cutaneous finger syndactyly Chronic otitis media Hypothermia Proximal placement of thumb Biparietal narrowing Amelogenesis imperfecta Protruding tongue Bronchitis Ventricular fibrillation Mixed hearing impairment Abnormal hair pattern Prolonged QT interval Mitral regurgitation Multiple joint contractures Sinusitis Bradycardia Tetralogy of Fallot Hypoplasia of dental enamel Periventricular gray matter heterotopia Abnormality of the dentition Depressivity Patent ductus arteriosus Abnormal heart morphology Wide nasal bridge Perimembranous ventricular septal defect Pneumonia Depressed nasal bridge Prominent forehead Thin upper lip vermilion Low-set ears Abnormal facial shape Abnormal cardiac septum morphology Hypertelorism Single median maxillary incisor Abnormality of the face Hip dislocation Pointed chin Carious teeth Toe syndactyly Triangular face Joint hypermobility Hypoplasia of the maxilla Increased mean corpuscular volume Syncope Round face Esotropia Microdontia Immunodeficiency Pulmonary arterial hypertension Preauricular skin tag Neurological speech impairment Torsade de pointes Diastasis recti Otosclerosis Rhabdomyosarcoma Ureteral duplication Visceromegaly Gonadoblastoma Hemihypertrophy Multiple renal cysts Abnormality of earlobe Nevus flammeus Neonatal hypoglycemia Enlarged kidney Exocrine pancreatic insufficiency Prominent metopic ridge Polycythemia Neuroblastoma Pseudohypoparathyroidism Asymmetric growth Prominent occiput Branchial cyst Large intestinal polyposis Abnormality of the shape of the midface Adrenocortical cytomegaly Abnormality of pancreas morphology Congenital megaureter Large placenta Posterior helix pit Infra-orbital crease Choroideremia Adrenocortical carcinoma Facial hemangioma Urogenital fistula Leiomyosarcoma Elevated alpha-fetoprotein Hepatoblastoma Anterior creases of earlobe Neurodevelopmental delay Large for gestational age Cutaneous syndactyly of toes Macrocephaly Umbilical hernia Polyhydramnios Mandibular prognathia Proptosis Inguinal hernia Midface retrusion Splenomegaly Cleft palate Poor speech Neoplasm Abnormal direction of ventricular apex Atrioventricular dissociation T-wave alternans Abnormality of dental color Frontal balding Biventricular hypertrophy Feeding difficulties in infancy Nephropathy Melanocytic nevus Wide anterior fontanel Nephroblastoma Redundant skin Hypercalciuria Relative macrocephaly Arnold-Chiari malformation Sleep apnea Accelerated skeletal maturation Tall stature Macroglossia Nephrolithiasis Large fontanelles Omphalocele Congenital diaphragmatic hernia Prominent nose Premature birth Vesicoureteral reflux Highly arched eyebrow Generalized myoclonic seizures Astigmatism Nonketotic hypoglycemia Decreased liver function Muscle stiffness Tachypnea Hyperammonemia Pericardial effusion Rhabdomyolysis Drowsiness Myoglobinuria Cardiorespiratory arrest Hypoketotic hypoglycemia Exercise-induced myalgia Decreased plasma carnitine Respiratory arrest Dicarboxylic aciduria Exercise-induced myoglobinuria Metabolic acidosis Nyctalopia Anosmia Sensorimotor neuropathy Rhizomelia Progressive visual loss Polyneuropathy Ichthyosis Retinopathy Hepatocellular necrosis Rod-cone dystrophy Pes cavus Visual loss Flexion contracture Sensorineural hearing impairment Exercise-induced rhabdomyolysis Muscle cramps Hepatic steatosis Distal lower limb amyotrophy Hemiplegia/hemiparesis Diarrhea Fatigue Motor delay Microcephaly Abnormality of brainstem morphology Telangiectasia of the skin Aplasia/Hypoplasia of the cerebellum Hyperhidrosis Telangiectasia Abnormality of extrapyramidal motor function Sensory neuropathy Paresthesia Abnormal pyramidal sign Hyperkeratosis Headache Abdominal pain Irritability Abnormality of mitochondrial metabolism Myalgia Hepatosplenomegaly Acidosis Elevated serum creatine phosphokinase Atrial septal defect Gastrointestinal dysmotility Abnormal autonomic nervous system physiology Photophobia Anorexia Migraine Nausea Nausea and vomiting Attention deficit hyperactivity disorder Pallor Hammertoe Short 5th metacarpal Smooth philtrum Recurrent pneumonia Progressive psychomotor deterioration Angiokeratoma Vascular skin abnormality Diffuse white matter abnormalities Psychomotor deterioration Vegetative state Clonus Long-tract signs Generalized-onset seizure Tetraplegia Abnormality of the cerebral white matter Apnea Osteopenia Cerebral cortical atrophy Angiokeratoma corporis diffusum Oligosacchariduria Hyperreflexia Kyphosis Protruding ear Intellectual disability, moderate High forehead Upslanted palpebral fissure Thrombocytopenia Long philtrum Anteverted nares Increased urinary O-linked sialopeptides Ventriculomegaly Frontal bossing Delayed speech and language development Feeding difficulties High palate Micrognathia Cerebellar hypoplasia Decreased circulating follicle stimulating hormone level Calcific stippling Micropenis Heterotopia Dehydration Growth hormone deficiency Talipes Abnormality of eye movement Abnormality of the eye Polydactyly Precocious puberty Severe short stature Agenesis of corpus callosum Talipes equinovarus Short stature Elevated levels of phytanic acid Polyneuritis Cerebral palsy Diabetes insipidus Decreased circulating luteinizing hormone level Hemianopia Bitemporal hemianopia Pituitary dwarfism Septo-optic dysplasia Ectopic posterior pituitary Optic disc hypoplasia Anterior pituitary hypoplasia Cavum septum pellucidum Short finger Adrenocorticotropic hormone deficiency Panhypopituitarism Amniotic constriction ring Severe vision loss Hypopituitarism Absent septum pellucidum Subchorionic septal cyst



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Sloping forehead, related diseases and genetic alterations Congestive heart failure and Neoplasm of the pancreas, related diseases and genetic alterations Low-set ears and Intellectual disability, profound, related diseases and genetic alterations Immunodeficiency and Papule, related diseases and genetic alterations

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