Optic atrophy, and Aortic valve stenosis

Diseases related with Optic atrophy and Aortic valve stenosis

In the following list you will find some of the most common rare diseases related to Optic atrophy and Aortic valve stenosis that can help you solving undiagnosed cases.


Top matches:

High match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

High match 3C SYNDROME


Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).

3C SYNDROME Is also known as dandy-walker-like malformation with atrioventricular septal defect|craniocerebellocardiac dysplasia|3c syndrome|ritscher-schinzel syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3C SYNDROME

High match JACOBSEN SYNDROME


Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

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Other less relevant matches:

High match DEAFNESS-ENCEPHALONEUROPATHY-OBESITY-VALVULOPATHY SYNDROME


Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.

DEAFNESS-ENCEPHALONEUROPATHY-OBESITY-VALVULOPATHY SYNDROME Is also known as hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Peripheral neuropathy
  • Macrocephaly
  • Optic atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-ENCEPHALONEUROPATHY-OBESITY-VALVULOPATHY SYNDROME

High match TEMTAMY SYNDROME


Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

Medium match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Medium match SARCOSINEMIA


Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency.

SARCOSINEMIA Is also known as sard deficiency|sardhd|sarcosine dehydrogenase complex deficiency|sardh deficiency|hypersarcosinemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SARCOSINEMIA

Medium match DILATED CARDIOMYOPATHY WITH ATAXIA


Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

DILATED CARDIOMYOPATHY WITH ATAXIA Is also known as mga5|dcma|3-methylglutaconic aciduria type 5|cardiomyopathy, dilated, with ataxia|mga, type v|dcma syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DILATED CARDIOMYOPATHY WITH ATAXIA

Medium match DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY


Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY

Medium match CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD


Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD

Top 5 symptoms//phenotypes associated to Optic atrophy and Aortic valve stenosis

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

Patients with Optic atrophy and Aortic valve stenosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Feeding difficulties Macrocephaly Muscular hypotonia Abnormal facial shape Mitral regurgitation Hearing impairment Intellectual disability, mild Pulmonic stenosis Postnatal growth retardation Atrial septal defect Cardiomyopathy Patent ductus arteriosus Downslanted palpebral fissures Congestive heart failure Ventriculomegaly Ptosis Depressed nasal bridge Hypertelorism Growth delay Low-set ears Epicanthus Chorioretinal coloboma Cryptorchidism Cataract Sensorineural hearing impairment Failure to thrive Double outlet right ventricle Hypoplastic left heart Hydronephrosis Iris coloboma Coloboma Abnormal heart morphology Hypospadias Dilatation Microcephaly Scoliosis Micrognathia Flexion contracture Brachydactyly Intrauterine growth retardation Ventricular septal defect Strabismus Aortic regurgitation Long philtrum Prominent forehead Inguinal hernia Gastroesophageal reflux High forehead Delayed speech and language development Abnormality of cardiovascular system morphology Feeding difficulties in infancy Short neck Motor delay

Rare Symptoms - Less than 30% cases


Thick lower lip vermilion Toe syndactyly Horseshoe kidney Anemia Renal agenesis Growth hormone deficiency Decreased antibody level in blood Intestinal malrotation Postural instability Hydrocephalus Developmental regression Short nose Anal atresia Neurological speech impairment Finger syndactyly Syndactyly Prominent nasal bridge Abnormal cardiac septum morphology Myopia Narrow palate Camptodactyly Abnormality of the kidney Coarse facial features Recurrent respiratory infections Dental crowding Corneal opacity Sudden cardiac death Immunodeficiency Coarctation of aorta Unilateral renal agenesis Abnormality of the hand Intellectual disability, moderate Constipation Agenesis of corpus callosum Anxiety Pes planus Hypoglycemia Telecanthus Attention deficit hyperactivity disorder Hernia Skin rash Hip dislocation Dolichocephaly Short toe Facial asymmetry Tachycardia Clinodactyly of the 5th finger Cerebral atrophy Hand polydactyly Abnormal mitral valve morphology Microcornea Atrioventricular canal defect Peripheral neuropathy Missing ribs Ectopic anus Mitral stenosis Wheezing Microphthalmia Heart murmur Spasticity Hypertrophic cardiomyopathy Talipes equinovarus Abnormal palate morphology Behavioral abnormality Hypothyroidism Arrhythmia Abnormality of the skeletal system Leukemia Glutaric aciduria Abnormality of the genital system Lymphedema Low posterior hairline Wide intermamillary distance Esotropia Webbed neck Highly arched eyebrow Thick vermilion border Bruising susceptibility Wide nasal bridge Ataxia Pectus carinatum Sparse hair Low-set, posteriorly rotated ears Posteriorly rotated ears Pectus excavatum Thrombocytopenia Edema Respiratory distress Anteverted nares Hypertension Cognitive impairment Aciduria Broad forehead Shortened QT interval Ischemic stroke Glomerulosclerosis Hemiplegia Prominent supraorbital ridges Chronic kidney disease Atrioventricular block Easy fatigability Tinnitus Jaundice Ventricular arrhythmia Reduced bone mineral density Corneal dystrophy Personality changes Progressive hearing impairment Abnormal intestine morphology Ventricular tachycardia Hyperlipidemia Purpura Aminoaciduria Exercise intolerance Spontaneous abortion Abnormal autonomic nervous system physiology Fasciculations Bradycardia Polydipsia Clubbing Hypohidrosis Blindness Abnormality of lipid metabolism Aortic root aneurysm Renal tubular acidosis Glycosuria Mucosal telangiectasiae Abnormal heart valve morphology Glomerulopathy Telangiectasia of the skin Celiac disease Orthostatic hypotension Progressive sensorineural hearing impairment Interstitial pulmonary abnormality Impaired vibratory sensation Elevated erythrocyte sedimentation rate Coronary artery atherosclerosis Impotence Bundle branch block Loss of consciousness Emphysema Umbilical hernia Anhidrosis Polyuria Diabetes insipidus Tricuspid regurgitation Abnormality of the pinna Anorexia Xerostomia Functional abnormality of the gastrointestinal tract Vertigo Paresthesia Delayed puberty Nausea and vomiting Malabsorption Abnormality of the cerebral white matter Pruritus Papule Cough Stroke Cystic hygroma Nausea Abnormality of the nervous system ST segment depression Proteinuria Unexplained fevers Arthritis Carcinoma Myalgia Arthralgia Mandibular prognathia Dyspnea Hyperkeratosis Stage 5 chronic kidney disease Bulbous nose Left ventricular hypertrophy Abnormality of the forehead Subcutaneous nodule Tortuosity of conjunctival vessels Abnormal lung morphology Palpitations Myocardial infarction Hyperkeratotic papule Atrial fibrillation Ventricular hypertrophy Nephrotic syndrome Mitral valve prolapse Abnormality of the cardiovascular system Hypotension Thick eyebrow Cerebral visual impairment Urinary incontinence Syncope Absence seizures Chest pain Abdominal distention Muscle cramps Nephropathy Abnormality of glycosphingolipid metabolism Impaired renal concentrating ability Hematuria Abnormal EKG Concentric hypertrophic cardiomyopathy Cornea verticillata Supraventricular arrhythmia Abnormality of cardiovascular system physiology Hypokinesia Abdominal pain Biventricular hypertrophy Primary hypothyroidism Microcytic anemia Microalbuminuria Perineal hypospadias Conjunctival telangiectasia 3-Methylglutaconic aciduria Dysesthesia Vascular skin abnormality Microvesicular hepatic steatosis Abnormal cornea morphology Nonprogressive cerebellar ataxia Abnormality of the renal tubule Abnormal thrombosis Tubulointerstitial fibrosis Chronic pain Abnormal renal physiology Miosis T-wave inversion Abnormal aortic valve morphology Decreased female libido Retinal vascular tortuosity Periorbital fullness Distal renal tubular acidosis Hyposthenuria Abnormal pyramidal sign Impaired temperature sensation Abnormal glomerular filtration rate Tetraparesis Loss of speech Abnormality of the common coagulation pathway Obstructive lung disease Angiokeratoma Reduced sperm motility Increased blood urea nitrogen Vascular tortuosity Prolonged QT interval Decreased glomerular filtration rate Hypersarcosinemia Nephrogenic diabetes insipidus Abnormality of temperature regulation Muscle weakness Dilated cardiomyopathy Hepatic steatosis Decreased testicular size Limb pain Increased glomerular filtration rate Corneal crystals Gastrointestinal dysmotility Asymmetric septal hypertrophy Transient ischemic attack Reduced ejection fraction Butterfly vertebrae Hyperplasia of the maxilla Chronic obstructive pulmonary disease Thoracic kyphoscoliosis Abnormality of brain morphology Angina pectoris Exaggerated median tongue furrow Clubbing of fingers Peripheral arterial stenosis Shortened PR interval Coronary artery stenosis Decreased lacrimation Heat intolerance Supraventricular tachycardia Large earlobe Oligospermia Abnormality of the gastrointestinal tract Left ventricular septal hypertrophy Tubular atrophy Elevated serum creatinine Tubulointerstitial nephritis Edema of the lower limbs Renal tubular dysfunction Achalasia Tenesmus Testicular dysgenesis Abnormal myocardium morphology Noncompaction cardiomyopathy Increased carotid artery intimal medial thickness 3-Methylglutaric aciduria Penile hypospadias Normochromic microcytic anemia High-frequency hearing impairment Abnormal ST segment Aggressive behavior Lumbar hyperlordosis Stereotypy Abnormal common carotid artery morphology Acroparesthesia Angiokeratoma corporis diffusum Restrictive cardiomyopathy Heavy proteinuria Exotropia Self-injurious behavior Abnormality of the nose Abnormality of femur morphology 2-3 toe syndactyly Chronic fatigue Myocardial fibrosis Vertebral fusion Sinus bradycardia Abnormal endocardium morphology Long hallux Hyperhidrosis High, narrow palate Aplasia/Hypoplasia of the cerebellum Wormian bones Hemivertebrae Preauricular skin tag Large fontanelles Cerebellar vermis hypoplasia Hypoplasia of penis Limb undergrowth Tetralogy of Fallot Dandy-Walker malformation Bifid uvula Oral cleft Prominent occiput Cleft lip Skeletal dysplasia Glaucoma Brachycephaly Cerebellar hypoplasia Alopecia Kyphosis Cleft palate Abnormality of the subarachnoid space Reduced factor X activity Reduced prothrombin activity Abnormality of neuronal migration Mesomelia Reduced factor XII activity Abnormality of the fontanelles or cranial sutures Hypogonadism Osteoporosis Clinodactyly Recurrent infections Abnormality of the dentition Primum atrial septal defect Cerebellar malformation Humoral immunodeficiency Facial hemangioma Contractures of the large joints Posterior fossa cyst Abnormal tricuspid valve morphology Congenital glaucoma Lethal skeletal dysplasia Complete atrioventricular canal defect Aplasia/Hypoplasia of the nipples Hypoplastic fingernail Communicating hydrocephalus Enlarged cisterna magna Single umbilical artery Pierre-Robin sequence Adrenal hypoplasia Posterior embryotoxon Narrow nasal bridge Abnormality of the hip bone Juvenile myelomonocytic leukemia Hypoplasia of olfactory tract Retrognathia Ascites Bilateral single transverse palmar creases Hydrops fetalis Cafe-au-lait spot Hyperpigmentation of the skin Fine hair Epistaxis Cyanosis Hip dysplasia Lymphoma Abnormal bleeding Triangular face Falls Torticollis Joint hypermobility Astigmatism Abnormality of the foot Hypermetropia Joint laxity Hepatosplenomegaly Macrotia Polyhydramnios Splenomegaly Myopathy Gait disturbance Vasculitis Bicuspid aortic valve Reduced factor IX activity Hydrocele testis Abnormality of the mediastinum Arteritis Pulmonary lymphangiectasia Monocytosis Broad toe Prominent fingertip pads Chylothorax Hypochromic microcytic anemia Abnormality of the spleen B-cell lymphoma Short attention span Facial hypotonia Deep philtrum Abnormal eyebrow morphology Neurodevelopmental delay Decreased muscle mass Proximal placement of thumb Overfolded helix Cubitus valgus Abnormality of the thorax Pleural effusion Bilateral ptosis Failure to thrive in infancy Cholelithiasis Poor suck Osteopenia Thin upper lip vermilion Depressivity Nystagmus Convex nasal ridge Prominent nose Long face Joint hyperflexibility Mental deterioration Autism Gait ataxia Absent speech Intellectual disability, severe Hypoplasia of the corpus callosum Visual impairment Cutis marmorata Bilateral sensorineural hearing impairment Pulmonary arterial hypertension Increased serum lactate Areflexia Obesity Abnormality of the curvature of the vertebral column Megakaryocyte dysplasia Congenital thrombocytopenia Bilateral camptodactyly Arteria lusoria Internal hemorrhage Annular pancreas Progressive visual loss Intellectual disability, profound Toe clinodactyly Scleral staphyloma Midface retrusion Headache Renal insufficiency Diarrhea Vomiting Respiratory insufficiency Fatigue Fever Pain Posterior staphyloma Short 2nd toe Lop ear Short chin Lens luxation Short upper lip Colpocephaly Profound global developmental delay Hypoplasia of teeth Neurogenic bladder Congenital nystagmus Bowing of the legs Aortic aneurysm Relative macrocephaly Genu varum Aplasia/Hypoplasia of the corpus callosum Abnormality of the anus Giant platelets Craniosynostosis Amblyopia Schizophrenia Infantile muscular hypotonia Tachypnea Azoospermia Holoprosencephaly Multicystic kidney dysplasia Bone marrow hypocellularity Spina bifida Leukodystrophy Sinusitis Short thumb Pachygyria Trigonocephaly Abnormal form of the vertebral bodies Pancytopenia Eczema Dehydration Microdontia Otitis media Premature birth Single transverse palmar crease Smooth philtrum Talipes Narrow chest Small for gestational age Pyloric stenosis Ectropion Macular hypoplasia Broad hallux phalanx Clitoral hypoplasia Central hypothyroidism U-Shaped upper lip vermilion Urethral stenosis Abnormality of the head Nasolacrimal duct obstruction Broad columella Abnormal thrombocyte morphology Labial hypoplasia Aplasia/Hypoplasia of the earlobes Nuclear cataract Duodenal atresia Hammertoe Eyelid coloboma Chronic constipation Retinal dysplasia Diastasis recti Abnormal eyelash morphology Bipolar affective disorder Transposition of the great arteries Natal tooth Slender finger Partial agenesis of the corpus callosum Aplasia/Hypoplasia of the eyebrow Flat occiput Tethered cord



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