Ataxia, and Atrial septal defect

Diseases related with Ataxia and Atrial septal defect

In the following list you will find some of the most common rare diseases related to Ataxia and Atrial septal defect that can help you solving undiagnosed cases.


Top matches:

Low match AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4


Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypical, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options.

AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4 Is also known as chromosome xp22 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4

Low match BRAIN-LUNG-THYROID SYNDROME


Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).

BRAIN-LUNG-THYROID SYNDROME Is also known as choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|brain-lung-thyroid syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BRAIN-LUNG-THYROID SYNDROME

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

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Other less relevant matches:

Low match L-2-HYDROXYGLUTARIC ACIDURIA


L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.

L-2-HYDROXYGLUTARIC ACIDURIA Is also known as l-2-hga|l-2-hydroxyglutaric acidemia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about L-2-HYDROXYGLUTARIC ACIDURIA

Low match MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME


Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.

MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME Is also known as mrxsml|mental retardation, x-linked, syndromic, mircsof-langouet type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME

Low match THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME


Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Low match JOUBERT SYNDROME 2; JBTS2


Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (Maria et al., 1997). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) (Chance et al., 1999; Satran et al., 1999).

JOUBERT SYNDROME 2; JBTS2 Is also known as cors2|cerebellooculorenal syndrome 2

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 2; JBTS2

Low match CHÉDIAK-HIGASHI SYNDROME


Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Low match MILLER-DIEKER SYNDROME


Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.

MILLER-DIEKER SYNDROME Is also known as monosomy 17p13.3|lissencephaly due to 17p13.3 deletion|mds|telomeric deletion 17p

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MILLER-DIEKER SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Atrial septal defect

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

Patients with Ataxia and Atrial septal defect. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Nystagmus Muscular hypotonia Cryptorchidism Abnormal cardiac septum morphology Visual impairment Patent foramen ovale Dystonia Frontal bossing Ventricular septal defect Tremor Growth delay Optic atrophy Abnormal cerebellum morphology Neonatal hypotonia Strabismus Macrocephaly

Rare Symptoms - Less than 30% cases


Abnormal heart morphology Aciduria Anemia Abnormality of extrapyramidal motor function Neutropenia Spastic paraplegia Neoplasm Paresthesia Paraplegia Thrombocytopenia Feeding difficulties Patent ductus arteriosus Peripheral neuropathy Decreased fetal movement Hepatomegaly Cardiomyopathy Intrauterine growth retardation Pancytopenia Hypertelorism Infantile muscular hypotonia Microcephaly Delayed speech and language development Gastroesophageal reflux Cerebellar atrophy Autism Upslanted palpebral fissure Aggressive behavior Developmental regression Camptodactyly Polydactyly Hypoplasia of the corpus callosum Fever Skeletal muscle atrophy Respiratory insufficiency Recurrent respiratory infections Respiratory failure Gait ataxia High palate Difficulty walking Low-set ears Abnormality of movement Failure to thrive Retinal dystrophy Abnormal facial shape Hearing impairment Progressive peripheral neuropathy Peripheral axonal neuropathy Rigidity Photophobia Hepatosplenomegaly Mental deterioration Parkinsonism Abnormality of the eye Peripheral demyelination Foot dorsiflexor weakness Skin ulcer Hyperpigmentation of the skin Amblyopia Hypertriglyceridemia Cutaneous photosensitivity Epistaxis Bradykinesia Gastrointestinal hemorrhage Leukemia Lymphoma Brain atrophy Abnormal bleeding Hypopigmentation of the skin Neurodegeneration Sensory neuropathy Bruising susceptibility Falls Lymphadenopathy Jaundice Brainstem dysplasia Reduced visual acuity External genital hypoplasia Agenesis of cerebellar vermis Central apnea Optic nerve coloboma Impaired smooth pursuit Congenital blindness Acute kidney injury Nephronophthisis Molar tooth sign on MRI Abnormal corpus callosum morphology Hypoplasia of the brainstem Chorioretinal coloboma Abnormal electroretinogram Oculomotor apraxia Hepatic fibrosis Renal dysplasia Encephalocele Apraxia Abnormal renal physiology Rotary nystagmus Hyporeflexia Thickened superior cerebellar peduncle Areflexia Recurrent infections Immunodeficiency Splenomegaly Edema Gait disturbance Noncommunicating hydrocephalus Enlarged fossa interpeduncularis Neonatal breathing dysregulation Accessory oral frenulum Cranial nerve paralysis Dysgenesis of the cerebellar vermis Episodic tachypnea Elongated superior cerebellar peduncle Hypoplastic male external genitalia Abnormality of ocular smooth pursuit Metopic synostosis Abnormal saccadic eye movements Leukopenia Hypersplenism Abnormality of vision Flat face Pachygyria Omphalocele Narrow forehead Abnormality of the cardiovascular system Delayed eruption of teeth Single transverse palmar crease Nephropathy Wide nose Thin vermilion border Spastic gait Postnatal growth retardation EEG abnormality Thin upper lip vermilion High forehead Polyhydramnios Cerebral cortical atrophy Brachycephaly Prominent forehead Heterotopia Joint contracture of the hand Agenesis of corpus callosum Deep palmar crease Midline brain calcifications Type I lissencephaly Abnormality of upper lip Pelvic kidney Decerebrate rigidity Agyria Recurrent aspiration pneumonia Cavum septum pellucidum Thick upper lip vermilion Lissencephaly Duodenal atresia Premature skin wrinkling Infantile spasms Progressive spastic paraplegia Prominent occiput Spastic diplegia Abnormality of neuronal migration Deep philtrum Sacral dimple Posteriorly rotated ears Clinodactyly of the 5th finger Decreased nerve conduction velocity Gingivitis Partial albinism Dandy-Walker malformation Hemophagocytosis Spinocerebellar tract degeneration White hair Generalized hypopigmentation Fair hair Periodontitis Iris hypopigmentation Recurrent bacterial skin infections Gingival bleeding Hypopigmentation of hair Generalized hyperpigmentation Resting tremor Sensory axonal neuropathy Cerebral hemorrhage Albinism Melanocytic nevus Macular hypoplasia Oculogyric crisis Inguinal hernia Epicanthus Clinodactyly Abnormality of metabolism/homeostasis Abnormality of cardiovascular system morphology Short nose Anteverted nares Dysphagia Downslanted palpebral fissures Wide nasal bridge Ptosis Hypofibrinogenemia Cataract Cleft palate Micrognathia Generalized hypopigmentation of hair Recurrent systemic pyogenic infections Abnormality of multiple cell lineages in the bone marrow Giant melanosomes in melanocytes Recurrent cutaneous abscess formation Abnormal leukocyte morphology Postaxial hand polydactyly Cardiac arrest Esotropia Decreased activity of mitochondrial complex I Myoclonus Intellectual disability, mild Behavioral abnormality Intellectual disability, severe Decreased activity of mitochondrial complex IV Decreased activity of mitochondrial complex III Concentric hypertrophic cardiomyopathy Severe lactic acidosis Gliosis Optic neuropathy Rhabdomyolysis Apathy Ragged-red muscle fibers Severe muscular hypotonia Sensorimotor neuropathy Increased serum lactate Abnormal pyramidal sign Neuronal loss in central nervous system Lactic acidosis Dysphasia L-2-hydroxyglutaric aciduria Ependymoma Neoplasm of the nervous system Morphological abnormality of the pyramidal tract Organic aciduria Corpus callosum atrophy Atrophy/Degeneration affecting the brainstem Global brain atrophy Tetraparesis Aplasia/Hypoplasia of the cerebellum Encephalitis Leukoencephalopathy Spastic tetraparesis Intellectual disability, progressive Horizontal nystagmus Truncal ataxia Leukodystrophy Metabolic acidosis Dilated cardiomyopathy Severe demyelination of the white matter Dysarthria Asthma Sleep disturbance Respiratory tract infection Apnea Hypothyroidism Pneumonia Respiratory distress Motor tics Choreoathetosis Tics Impulsivity Attention deficit hyperactivity disorder Autistic behavior Anxiety Hyperactivity Absent speech Chorea Abnormal lung morphology Feeding difficulties in infancy Thyroid dysgenesis Hypertrophic cardiomyopathy Acidosis Elevated serum creatine phosphokinase Encephalopathy Ventriculomegaly Cognitive impairment Muscle weakness Compensated hypothyroidism Recurrent pneumonia Increased thyroid-stimulating hormone level Parkinsonism with favorable response to dopaminergic medication Congenital hypothyroidism Abnormality of the thyroid gland Interstitial pulmonary abnormality Athetosis Neonatal respiratory distress Hyperkinesis L-2-hydroxyglutaric acidemia Scoliosis Renal cyst Amenorrhea Polycystic ovaries Cone/cone-rod dystrophy Aminoaciduria Hoarse voice Situs inversus totalis Anorexia Bilateral sensorineural hearing impairment Abnormality of the skin Hyperglycemia Polyneuropathy Retinal degeneration Lethargy Stroke Pallor Hypoglycemia Diabetes mellitus Myelodysplasia Secondary amenorrhea Visual loss Renal insufficiency Postaxial polydactyly Abnormality of the foot Dolichocephaly Retinopathy Coloboma Craniosynostosis Microphthalmia Blindness Macrocytic anemia Hydrocephalus Depressed nasal bridge Thiamine-responsive megaloblastic anemia Paroxysmal atrial tachycardia Sideroblastic anemia Abnormality of the basal ganglia Abdominal situs inversus Megaloblastic anemia Arrhythmia Headache Myopia Short philtrum Intention tremor Prominent nose High, narrow palate Thick vermilion border Long face Poor speech Delayed puberty Wide mouth Dental crowding Muscular hypotonia of the trunk Joint laxity Pes planus Kyphoscoliosis Narrow mouth Cerebellar hypoplasia Malar flattening Kyphosis Open mouth Clonus Congestive heart failure Left ventricular noncompaction Diarrhea Sensorineural hearing impairment Short stature Deviated nasal septum Increased head circumference Perseveration Speech apraxia Slender build Widely spaced teeth Right ventricular hypertrophy Mild global developmental delay Ankylosis Thickened calvaria Hallux valgus Nasal speech Poor suck Relative macrocephaly Bitemporal hollowing



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Diabetes mellitus, related diseases and genetic alterations Abnormality of the skeletal system and Micropenis, related diseases and genetic alterations Skeletal muscle atrophy and Jaundice, related diseases and genetic alterations Cardiomyopathy and Ventricular septal defect, related diseases and genetic alterations Cataract and Pancytopenia, related diseases and genetic alterations Muscular hypotonia and Cerebellar vermis hypoplasia, related diseases and genetic alterations

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