Optic atrophy, and Abnormal cardiac septum morphology

Diseases related with Optic atrophy and Abnormal cardiac septum morphology

In the following list you will find some of the most common rare diseases related to Optic atrophy and Abnormal cardiac septum morphology that can help you solving undiagnosed cases.


Top matches:

Medium match AICA-RIBOSIDURIA


AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.

AICA-RIBOSIDURIA Is also known as aica-ribosuria due to atic deficiency|5-amino-4-imidazole carboxamide ribosiduria|atic deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AICA-RIBOSIDURIA

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 15


Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 15 Is also known as coxpd15

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 15

Medium match LEIGH SYNDROME WITH LEUKODYSTROPHY


LEIGH SYNDROME WITH LEUKODYSTROPHY Is also known as leigh disease with leukodystrophy|infantile subacute necrotizing encephalopathy with leukodystrophy

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about LEIGH SYNDROME WITH LEUKODYSTROPHY

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Other less relevant matches:

Medium 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

Medium 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

Medium match PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME


Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.

PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME Is also known as pancreatic and cerebellar agenesis|diabetes mellitus, permanent neonatal, with cerebellar agenesis

Related symptoms:

  • Seizures
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME

Medium match COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME


COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME Is also known as chops syndrome|cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME

Medium match TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4


Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder (summary by Faghri et al., 2008).Sabinas brittle hair syndrome (OMIM ) is another form of nonphotosensitive TTD.For a discussion of genetic heterogeneity of trichothiodystrophy, see {601675}.

TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4 Is also known as trichothiodystrophy-neurocutaneous syndrome|pollitt syndrome|abhs|trichothiodystrophy, nonphotosensitive 1|bids syndrome|ttdn1|amish brittle hair brain syndrome|hair-brain syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4

Low match NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH


Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome (OMIM ); RERE is located in the proximal 1p36 critical region (summary by Fregeau et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH

Low match HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2


Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017).For a discussion of genetic heterogeneity of congenital hydrocephalus, see {233600}.

HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 2, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2

Top 5 symptoms//phenotypes associated to Optic atrophy and Abnormal cardiac septum morphology

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
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Optic atrophy and Abnormal cardiac septum morphology. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Ventricular septal defect Cognitive impairment Nystagmus Hearing impairment Short stature Ataxia Muscular hypotonia Dysarthria Intellectual disability, severe Low-set ears Abnormal facial shape Visual impairment Ventriculomegaly Frontal bossing Intrauterine growth retardation Anteverted nares Atrial septal defect Microcephaly Increased serum lactate Dystonia Obesity

Rare Symptoms - Less than 30% cases


Patent ductus arteriosus Posteriorly rotated ears Coloboma Leukodystrophy Apnea Hypertrophic cardiomyopathy Acidosis Hypoplasia of the corpus callosum Short nose Downslanted palpebral fissures Severe muscular hypotonia Motor delay Macrocephaly Cataract Cryptorchidism Behavioral abnormality Microphthalmia Epicanthus Vesicoureteral reflux Cerebellar hypoplasia Gastroesophageal reflux Peripheral neuropathy Feeding difficulties Failure to thrive Ragged-red muscle fibers Tremor Gait ataxia Abnormal pyramidal sign Spasticity Delayed speech and language development Increased CSF lactate Meconium ileus Chronic lung disease Long eyelashes Abnormal vertebral morphology Aspiration Horseshoe kidney Laryngomalacia Aspiration pneumonia Tracheal stenosis Overlapping fingers Secundum atrial septal defect Thick hair Recurrent aspiration pneumonia Wide anterior fontanel Heterotopia Agenesis of corpus callosum Hypogonadism Cerebral cortical atrophy Macrotia Cholestasis Abnormal lung morphology Round face Neonatal insulin-dependent diabetes mellitus Abnormal cortical gyration Cerebellar agenesis Aplasia/Hypoplasia of the pancreas Hypertelorism Severe hydrocephalus Macular hypoplasia Brachydactyly Colpocephaly Abnormality of the skeletal system Communicating hydrocephalus Ileus Pneumonia Proptosis Cortical gyral simplification Coarse facial features Relative macrocephaly Thick eyebrow Downturned corners of mouth Microretrognathia Lissencephaly Ichthyosis Retrognathia Bulbous nose Reduced subcutaneous adipose tissue Autism Iris coloboma Low-set, posteriorly rotated ears Postnatal growth retardation Autistic behavior Blepharophimosis Pulmonary hypoplasia Cerebellar vermis hypoplasia Dandy-Walker malformation Cerebral visual impairment Broad eyebrow Sensorineural hearing impairment Hydrocephalus Hepatic failure Joint hypermobility Hernia Facial asymmetry Polyhydramnios Intestinal malrotation Microdontia Sparse hair Partial agenesis of the corpus callosum Cleft lip Microcornea Small nail Hypergonadotropic hypogonadism Sparse eyelashes Macular degeneration Brittle hair Decreased fertility Keratoconjunctivitis sicca Abnormal heart morphology Woolly hair Corneal neovascularization Hypoplasia of teeth Trichorrhexis nodosa Concave nail Tiger tail banding Micrognathia Congenital diaphragmatic hernia Hypospadias Severe intrauterine growth retardation Organic aciduria Bilateral talipes equinovarus Muscle weakness Abnormality of movement Progressive cerebellar ataxia Pigmentary retinopathy Hypertrichosis Emotional lability Progressive spastic paraplegia Decreased activity of mitochondrial respiratory chain Decreased activity of the pyruvate dehydrogenase complex Focal T2 hyperintense basal ganglia lesion Hepatomegaly Hyperreflexia Respiratory insufficiency Cardiomyopathy Encephalopathy Elevated serum creatine phosphokinase Respiratory failure Neonatal hypotonia Feeding difficulties in infancy Dilated cardiomyopathy Peripheral axonal neuropathy Lactic acidosis Ophthalmoplegia Anemia Decreased fetal movement Congenital blindness Blindness Abnormality of metabolism/homeostasis Prominent forehead Brachycephaly Thin upper lip vermilion Wide mouth Prominent nasal bridge Abnormality of the skin Intellectual disability, profound Clitoral hypertrophy Fused labia minora Ptosis Reduced visual acuity Abnormality of the cerebral white matter Poor speech Unsteady gait Tetraplegia Spastic tetraplegia Intention tremor Incoordination Pituitary adenoma Wolff-Parkinson-White syndrome Metabolic acidosis Sensorimotor neuropathy Hyperglycemia Talipes equinovarus Dysphasia Atrophy/Degeneration affecting the brainstem Corpus callosum atrophy Morphological abnormality of the pyramidal tract Neoplasm of the nervous system Ependymoma L-2-hydroxyglutaric aciduria L-2-hydroxyglutaric acidemia Severe demyelination of the white matter Flexion contracture Diabetes mellitus Aplasia/Hypoplasia of the cerebellum Hypoglycemia Abnormality of the pinna Joint stiffness Pectus carinatum Talipes Triangular face Convex nasal ridge Type II diabetes mellitus Short chin Optic nerve hypoplasia Global brain atrophy Encephalitis Patent foramen ovale Myoclonus Apathy Rhabdomyolysis Optic neuropathy Severe lactic acidosis Decreased activity of mitochondrial complex I Concentric hypertrophic cardiomyopathy Decreased activity of mitochondrial complex III Decreased activity of mitochondrial complex IV Cerebellar atrophy Intellectual disability, mild Developmental regression Leukoencephalopathy Abnormal cerebellum morphology Gliosis Aciduria Neuronal loss in central nervous system Abnormality of extrapyramidal motor function Tetraparesis Truncal ataxia Horizontal nystagmus Intellectual disability, progressive Spastic tetraparesis Periventricular gray matter heterotopia



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