Cardiomyopathy, and Cerebellar hypoplasia

Diseases related with Cardiomyopathy and Cerebellar hypoplasia

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


Top matches:

Medium match LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3


LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3 Is also known as linear skin defects with cardiomyopathy and other congenital anomalies

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3

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 MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13


Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

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Other less relevant matches:

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1


Congenital muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) are characterized by early onset of muscle weakness, usually before ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; Godfrey et al., 2007). Congenital muscular dystrophy-dystroglycanopathies with or without mental retardation (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, {236670}), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (type C; see MDDGC1, {609308}). Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with or without Mental Retardation (Type B)Congenital muscular dystrophy with mental retardation due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGB2 (OMIM ), caused by mutation in the POMT2 gene (OMIM ); MDDGB3 (OMIM ), caused by mutation in the POMGNT1 gene (OMIM ); MDDGB4 (OMIM ), caused by mutation in the FKTN gene (OMIM ); MDDGB5 (OMIM ), caused by mutation in the FKRP gene (OMIM ); MDDGB6 (OMIM ), caused by mutation in the LARGE gene (OMIM ); and MDDGB14 (OMIM ), caused by mutation in the GMPPB gene (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1 Is also known as muscular dystrophy, congenital, pomt1-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1

Medium match DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2


Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, pulmonary and liver fibrosis, and premature graying of the hair (summary by Armanios et al., 2005).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2

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

Medium match CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE


Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.

CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE Is also known as cytochrome oxidase deficiency, saguenay-lac-saint-jean type|cytochrome c oxidase deficiency, french canadian type|cytochrome c oxidase deficiency, french-canadian type|cox deficiency, french canadian type|leigh syndrome, french-canadian type|slsj-cox defi

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE

Medium match CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME


Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME Is also known as mtdps10|sengers syndrome|cardiomyopathy and cataract|mitochondrial dna depletion syndrome 10 (cardiomyopathic type)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME

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 COMPLEX LETHAL OSTEOCHONDRODYSPLASIA


Complex lethal osteochondrodysplasia of the Symoens-Barnes-Gistelinck type is characterized by severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly (Symoens et al., 2015).

COMPLEX LETHAL OSTEOCHONDRODYSPLASIA Is also known as complex lethal osteochondrodysplasia, symoens-barnes-gistelinck type

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMPLEX LETHAL OSTEOCHONDRODYSPLASIA

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Cerebellar hypoplasia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Hypertrophic cardiomyopathy Strabismus Muscular hypotonia Respiratory distress Intrauterine growth retardation Failure to thrive Nystagmus Lactic acidosis Respiratory insufficiency Dysphagia Scoliosis Acidosis Increased serum lactate Congenital cataract Osteopenia Generalized amyotrophy Muscle weakness Absent speech Dilated cardiomyopathy Myopia Cataract

Rare Symptoms - Less than 30% cases


Easy fatigability Ragged-red muscle fibers Exercise intolerance Spasticity Abnormal facial shape Intellectual disability, severe Flexion contracture Motor delay Skeletal muscle atrophy Decreased activity of mitochondrial respiratory chain Elevated serum creatine phosphokinase Facial palsy Severe global developmental delay Generalized muscle weakness Tachypnea Diarrhea Dyspnea Thrombocytopenia Cardiomegaly Congestive heart failure Short stature Micrognathia Hypertelorism Hypospadias Mental deterioration Agenesis of corpus callosum Cerebellar atrophy Developmental regression Stroke Cardiac arrest Prominent forehead Anteverted nares Abnormality of mitochondrial metabolism Wide nasal bridge Abnormal myelination Inferior vermis hypoplasia Stroke-like episode 3-Methylglutaconic aciduria Breathing dysregulation Increased CSF lactate Fatty replacement of skeletal muscle Exercise-induced lactic acidemia Anteriorly placed anus Infantile axial hypotonia CNS demyelination Abnormal muscle fiber protein expression Depletion of mitochondrial DNA in muscle tissue Hearing impairment Cognitive impairment Peripheral neuropathy Hyperglycemia Hyperreflexia Hepatomegaly Optic atrophy Blindness Skeletal myopathy Increased hepatocellular lipid droplets Organic aciduria Hypoplasia of the brainstem Esotropia Myoclonus Aciduria Hemiparesis Feeding difficulties in infancy Corneal dystrophy Eosinophilia Recurrent upper respiratory tract infections Abnormal electroretinogram Premature ovarian insufficiency Glaucoma Microvesicular hepatic steatosis Mitochondrial myopathy Meningocele Headache Myopathy Cardiorespiratory arrest Fatigue Hypertension Pulmonary arterial hypertension Right ventricular hypertrophy Congenital lactic acidosis Constipation Vascular skin abnormality Cerebral cortical atrophy Wormian bones Hydronephrosis Telecanthus Cleft lip Small for gestational age Platyspondyly Flat face Pulmonary hypoplasia Recurrent fractures Ascites Webbed neck Limb undergrowth Hydrops fetalis Short ribs Disproportionate short-limb short stature Micropenis Adducted thumb Pleural effusion Flared metaphysis Thoracic hypoplasia Single umbilical artery Decreased skull ossification Short femur Unilateral cleft lip Multiple prenatal fractures Large fleshy ears Beaded ribs Multiple rib fractures Fractured radius Polyhydramnios Brachycephaly Autism Recurrent pneumonia Gastroesophageal reflux Skeletal dysplasia Coarse facial features Apnea Abnormality of the cerebral white matter Vertigo Thick vermilion border Tetraplegia Generalized myoclonic seizures Generalized-onset seizure Lymphedema Cerebral visual impairment Clonus Vegetative state Posteriorly rotated ears Psychomotor deterioration Diffuse white matter abnormalities Angiokeratoma Progressive psychomotor deterioration Angiokeratoma corporis diffusum Long-tract signs Oligosacchariduria Increased urinary O-linked sialopeptides Cleft palate Low-set ears Ventricular septal defect Ventriculomegaly Short neck Short nose Poor suck Spinal deformities Leukoencephalopathy Inability to walk Short foot Round face Prominent nose Sloping forehead Mild short stature Cortical gyral simplification Partial agenesis of the corpus callosum Restrictive cardiomyopathy Metaphyseal sclerosis Hypoplasia of the corpus callosum Muscular dystrophy Retinal dystrophy Craniosynostosis Macroglossia Limb-girdle muscular dystrophy Congenital muscular dystrophy Enlarged cisterna magna Cerebellar dysplasia Anemia Abnormality of the dentition Osteoporosis Hyperkeratosis Nail dystrophy Abnormality of skin pigmentation Nail dysplasia Small hand Severe short stature Hepatic fibrosis Hyperpigmented streaks Microphthalmia Muscular hypotonia of the trunk Tachycardia Severe muscular hypotonia Ventricular tachycardia Ventricular fibrillation Pericardial effusion Sclerocornea Dilation of lateral ventricles Cavum septum pellucidum Lacrimal duct atresia Histiocytoid cardiomyopathy Feeding difficulties Pneumonia Encephalopathy Patent ductus arteriosus EEG abnormality Neonatal hypotonia Polyneuropathy Epileptic encephalopathy Neuronal loss in central nervous system Bradycardia Neonatal respiratory distress Hypoplastic left heart Motor deterioration Astrocytosis Chronic diarrhea Bone marrow hypocellularity Shock Midface retrusion Chronic kidney disease Nasal speech Spinal rigidity Progressive external ophthalmoplegia Proximal amyotrophy Ataxia Delayed speech and language development Tremor Dystonia Intellectual disability, mild Malar flattening Hypoglycemia Respiratory insufficiency due to muscle weakness Hirsutism Hepatic steatosis Highly arched eyebrow Metabolic acidosis Coma Gliosis Peripheral demyelination Intention tremor Broad-based gait Decreased liver function Low anterior hairline Truncal ataxia Dysphonia External ophthalmoplegia Leukopenia Kyphosis Palmoplantar hyperkeratosis Pulmonary fibrosis Premature graying of hair Aseptic necrosis Pulmonary infiltrates Aplastic anemia Esophageal stricture Toenail dysplasia Urethral stricture Ridged fingernail Reticulated skin pigmentation Ptosis Renal insufficiency Hypergonadotropic hypogonadism Recurrent infections Arrhythmia Hyporeflexia Hypogonadism Respiratory failure Proximal muscle weakness Ophthalmoplegia Limb muscle weakness Stage 5 chronic kidney disease Nausea Amenorrhea Primary amenorrhea Decreased fibular diameter



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