Ataxia, and Retinal detachment

Diseases related with Ataxia and Retinal detachment

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


Top matches:

Low match CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2


The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure. The lipopigment pattern seen most often in CLN2 consists of 'curvilinear' profiles (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 Is also known as jansky-bielschowsky disease|ceroid lipofuscinosis, neuronal, 2, variable age at onset

Related symptoms:

  • Seizures
  • Ataxia
  • Delayed speech and language development
  • Visual impairment
  • Optic atrophy


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2

Low match ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA


Autosomal recessive spinocerebellar ataxia-10 is an autosomal recessive neurodegenerative disorder with onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging (summary by Vermeer et al., 2010). Some patients have low levels of coenzyme Q10 (CoQ10) in muscle and may show some clinical improvement with CoQ10 treatment (Balreira et al., 2014).

ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA Is also known as scar10|autosomal recessive spinocerebellar ataxia type 10

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA

Low match VON HIPPEL-LINDAU DISEASE


Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.

VON HIPPEL-LINDAU DISEASE Is also known as familial cerebelloretinal angiomatosis|von hippel-lindau syndrome|lindau disease|vhl

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about VON HIPPEL-LINDAU DISEASE

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Other less relevant matches:

Low match KNOBLOCH SYNDROME


Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Low match ISOLATED ANIRIDIA


Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.

ISOLATED ANIRIDIA Is also known as an2, formerly|aniridia ii, formerly|an

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED ANIRIDIA

Low match MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME


Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by Martinelli et al., 2018).

MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME Is also known as takenouchi-kosaki syndrome|macrothrombocytopenia and mental retardation syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME

Low match SMITH-MAGENIS SYNDROME; SMS


SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

Low match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Low match STICKLER SYNDROME TYPE 2


A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities.

Related symptoms:

  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia
  • Retinopathy


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 2

Low match SIMPSON-GOLABI-BEHMEL SYNDROME


Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

SIMPSON-GOLABI-BEHMEL SYNDROME Is also known as sgbs|sgbs1|simpson-golabi-behmel syndrome type 1|golabi-rosen syndrome|sdys|x-linked dysplasia gigantism syndrome|dysplasia gigantism syndrome, x-linked|simpson dysmorphia syndrome|dgsx|bulldog syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Retinal detachment

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

Patients with Ataxia and Retinal detachment. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Nystagmus Sensorineural hearing impairment Blindness Strabismus Hypertelorism Abnormal facial shape Visual loss Cryptorchidism Microcephaly Ptosis Scoliosis Hypothyroidism Myopia Intellectual disability, moderate Depressed nasal bridge Visual impairment Micrognathia Wide mouth Neoplasm Neurological speech impairment Inguinal hernia Upslanted palpebral fissure Hernia Behavioral abnormality Hydrocephalus Glaucoma Dandy-Walker malformation Abnormality of the skeletal system Downslanted palpebral fissures Wide nasal bridge Exotropia Microcornea Cleft palate Reduced visual acuity Motor delay Epicanthus Ventriculomegaly Midface retrusion Patent ductus arteriosus Congenital cataract Hypoplasia of the corpus callosum Anteverted nares Smooth philtrum Synophrys Retinopathy Retinal degeneration Clinodactyly of the 5th finger Optic atrophy Obesity Cerebellar atrophy Progressive visual loss Mandibular prognathia

Rare Symptoms - Less than 30% cases


Muscular hypotonia Cardiomyopathy Ventricular septal defect Macrocephaly Edema Abnormality of the larynx Broad palm High forehead Macrotia Hoarse voice Arachnodactyly Falls Omphalocele Decreased fetal movement Duodenal atresia Pectus excavatum Otitis media Tall stature Macular hypoplasia Abnormal vitreous humor morphology Furrowed tongue Pain Preauricular skin tag High palate Clumsiness Finger syndactyly Kyphosis High, narrow palate Microphthalmia Agenesis of corpus callosum Diabetes mellitus Hyperactivity Thick vermilion border Renal dysplasia Low-set ears Nephroblastoma Dental malocclusion Abnormality of cardiovascular system morphology Short philtrum Anomalous pulmonary venous return Pulmonic stenosis Highly arched eyebrow Tapered finger Webbed neck Abnormal heart morphology Narrow forehead Progressive microcephaly Short stature Growth delay Failure to thrive Malar flattening Abnormality of the dentition Hydronephrosis Thin upper lip vermilion Macroglossia Cleft lip Intrauterine growth retardation Single transverse palmar crease Small hand Short palm Paralysis Recurrent infections Thrombocytopenia Hypospadias Cerebral cortical atrophy Clinodactyly Pes planus Cerebellar hypoplasia Gastroesophageal reflux Posteriorly rotated ears Prominent forehead Polyhydramnios Total anomalous pulmonary venous return Short nose Ectopia lentis Retrognathia High myopia Bulbous nose Polymicrogyria Tremor Joint hyperflexibility Nyctalopia Macular degeneration Nevus Horizontal nystagmus Mental deterioration Broad-based gait Cerebral atrophy Gait ataxia Pes cavus Pachygyria Rod-cone dystrophy Multicystic kidney dysplasia Abnormality of the kidney Delayed speech and language development Hypertension Arrhythmia Radioulnar synostosis Precocious puberty Short metatarsal Reduced number of teeth Laryngomalacia Aplasia/Hypoplasia of the earlobes Recurrent skin infections Venous thrombosis Failure to thrive in infancy Leukopenia Sandal gap Intellectual disability, progressive Low anterior hairline Recurrent aphthous stomatitis Tapetoretinal degeneration Abnormality of retinal pigmentation Gingival overgrowth Thick hair Long eyelashes Encephalopathy Intracranial hemorrhage Macular edema Rheumatoid arthritis Abnormality of the hip bone Hiatus hernia Gingivitis Peripheral visual field loss Thoracic scoliosis Subcapsular cataract Weak cry Celiac disease Microglossia Narrow nasal bridge Vocal cord paralysis Bone spicule pigmentation of the retina Truncal obesity Facial hypotonia Misalignment of teeth Cerebral hemorrhage Abnormality of dental morphology Deep venous thrombosis Constriction of peripheral visual field Cubitus valgus Posterior subcapsular cataract Disproportionate tall stature Pigmentary retinopathy Open mouth Abnormality of the forearm Neonatal hypotonia Kyphoscoliosis Developmental regression Dilatation Neurodegeneration Respiratory distress Neuronal loss in central nervous system Tetraparesis Sleep-wake inversion Frequent temper tantrums Head-banging Midline brain calcifications Joint laxity Abnormal tracheobronchial morphology Morphological abnormality of the middle ear Abnormality of upper lip Pelvic kidney Premature atrial contractions Hyperacusis Mood changes Recurrent aspiration pneumonia Excessive daytime sleepiness Velopharyngeal insufficiency Everted upper lip vermilion Recurrent ear infections Arthritis Feeding difficulties in infancy Lumbar hyperlordosis Retinal dystrophy Mitral valve prolapse Macrodontia Convex nasal ridge Aciduria Growth hormone deficiency Prominent nose Short metacarpal Hypoplasia of the maxilla Neutropenia Dementia Myoclonus Iris coloboma Postnatal growth retardation Thick eyebrow Joint hypermobility Abnormality of skin pigmentation Astigmatism Genu valgum Delayed puberty Severe global developmental delay Small for gestational age Prominent nasal bridge Stroke Protruding ear Respiratory tract infection Iris atrophy Chorioretinal dystrophy Bull's eye maculopathy Prolonged QT interval Diastasis recti Polysplenia Low hanging columella Broad foot Enlarged kidney Abnormal lung lobation Neuroblastoma Transposition of the great arteries Abnormality of digit Vertebral fusion Vertebral segmentation defect Supernumerary nipple Abnormality of the helix Bundle branch block Hydroureter Bilateral talipes equinovarus Large for gestational age Preauricular pit Cupped ear Abnormality of the voice Abnormality of the hand Relative macrocephaly Accelerated skeletal maturation Narrow palpebral fissure Congenital hip dislocation Renal neoplasm Flared iliac wings Short toe Posterior helix pit Cyst of the ductus choledochus Cleft lower lip Submucous cleft lip Six lumbar vertebrae Duplication of renal pelvis Penoscrotal transposition Birth length greater than 97th percentile Nephroblastomatosis Broad secondary alveolar ridge Narrow sacroiliac notch 2-3 finger syndactyly Short sacroiliac notch Aplasia/Hypoplasia of the abdominal wall musculature Short 2nd finger Penoscrotal hypospadias Broad toe Embryonal neoplasm Hepatoblastoma Meckel diverticulum Cervical ribs Pancreatic islet-cell hyperplasia Chordee Increased IgE level Ankyloglossia Ureteral duplication Cardiac arrest Cerebral visual impairment Granulocytopenia Childhood-onset truncal obesity Syndactyly Splenomegaly Intellectual disability, severe Atrial septal defect Short neck Talipes equinovarus Hepatomegaly Corneal opacity Slender toe Cat cry Hypoplastic philtrum Macrodontia of permanent maxillary central incisor Proptosis Prominent eyelashes Thick corpus callosum High-pitched cry Chorioretinal dysplasia Narrow philtrum Narrow palm Hemeralopia Cutis gyrata of scalp Abnormal renal morphology Laryngeal stenosis Hyperplasia of the maxilla Congenital neutropenia Polydactyly Coarse facial features Broad thumb Broad nasal tip Abnormality of the genital system Cerebellar vermis hypoplasia Small nail Abnormality of the ribs Congenital diaphragmatic hernia Hypoplasia of penis Postaxial hand polydactyly Overgrowth Nail dysplasia Intestinal malrotation Bifid uvula Renal cyst Umbilical hernia Short foot Postaxial polydactyly Wide nose Short distal phalanx of finger Thin vermilion border Cleft upper lip Facial asymmetry Toe syndactyly Camptodactyly of finger Irritability Low-set, posteriorly rotated ears Hypoglycemia Cavum septum pellucidum Self-mutilation Deep palmar crease Action tremor Central adrenal insufficiency Vascular tortuosity Retinal vascular tortuosity Central hypothyroidism Lower limb hypertonia Abnormal glucose tolerance Ocular pain Decreased light- and dark-adapted electroretinogram amplitude Peters anomaly Hyposmia Ectopia pupillae Hypoplasia of the fovea Lumbar kyphosis Hand tremor Hypoplasia of the iris Limb hypertonia Aniridia Hypopituitarism Adrenal insufficiency Albinism Anophthalmia Abnormality of the cerebral vasculature Bilateral ptosis Anosmia Aphakia Aplasia/Hypoplasia of the macula Opacification of the corneal stroma Polycystic kidney dysplasia Downbeat nystagmus Abnormal cardiac septum morphology Abnormal enzyme/coenzyme activity Camptodactyly Tortuosity of conjunctival vessels Gait disturbance Hyperhidrosis Nausea and vomiting Sensory neuropathy Migraine Increased intracranial pressure Absent speech Hypoplasia of the antihelix Aplasia/Hypoplasia of the cerebellum Immunodeficiency Long philtrum Hemiplegia/hemiparesis Telangiectasia of the skin Renal cell carcinoma Multiple renal cysts Flexion contracture Capillary hemangioma Arteriovenous malformation Increased proinsulin:insulin ratio Optic nerve hypoplasia Narrow palate Leg muscle stiffness Corneal dystrophy Bifid ureter Occipital meningocele Peripapillary atrophy Exudative retinal detachment Cerebellar malformation Abnormality of the hair Phthisis bulbi Lymphangioma Band keratopathy Lens luxation Narrow face Aplasia cutis congenita of scalp Encephalocele Pyloric stenosis Large forehead Calvarial skull defect Vitreoretinopathy Meningocele Acute lymphoblastic leukemia Aplasia cutis congenita Occipital encephalocele Absent septum pellucidum Chorioretinal atrophy Cortical dysplasia Cephalocele Thin skin Type I diabetes mellitus Neuroendocrine neoplasm Abnormality of the retinal vasculature Amblyopia Dental crowding Abnormality of the pancreas Recurrent urinary tract infections Choanal atresia Pheochromocytoma Pancreatic cysts Hypopigmentation of the skin Visceral angiomatosis Abnormality of the lymphatic system Attention deficit hyperactivity disorder Vesicoureteral reflux Coloboma Muscular hypotonia of the trunk Rigidity Papillary cystadenoma of the epididymis Retinal capillary hemangioma Vascular neoplasm Neoplasm of the middle ear Micropenis Alopecia Hypogonadism Leukemia Hypertonia Hypermetric saccades Downturned corners of mouth Abnormal electroretinogram Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Sinusitis Stereotypy Hypoplasia of dental enamel Heterotopia Intracellular accumulation of autofluorescent lipopigment storage material Hypertriglyceridemia Retinal thinning Abnormality of the cardiovascular system Increased neuronal autofluorescent lipopigment Esotropia Full cheeks Delayed eruption of teeth Motor deterioration Mitochondrial encephalopathy Sleep disturbance Abnormal nervous system electrophysiology Nephropathy Increased extraneuronal autofluorescent lipopigment Oral cleft Paresthesia Dry skin Lethargy Microtia Hyperreflexia Abnormal vertebral morphology Increased body weight Dysarthria Undetectable electroretinogram Broad face Thick upper lip vermilion Atonic seizures Bruxism Short attention span Chronic constipation Dextrocardia Overweight Drowsiness Protruding tongue Impaired pain sensation Abnormality of the immune system Lissencephaly Progressive spastic paraplegia Abnormality of the thyroid gland Open bite Impulsivity Self-injurious behavior Poor suck Abnormality of the urinary system Sacral dimple Drooling Abnormality of the outer ear Hypercholesterolemia Hyperlordosis Aggressive behavior Dysmetric saccades Hypoalbuminemia Protein-losing enteropathy Mild microcephaly Retinal dysplasia Congenital nystagmus Abnormality of the periventricular white matter Abnormality of the sternum Pericardial effusion Overlapping toe Unilateral renal agenesis Proximal placement of thumb Sparse eyebrow Tented upper lip vermilion Macrothrombocytopenia Widely spaced teeth Abnormal intestine morphology Brisk reflexes Lymphedema Bilateral sensorineural hearing impairment Ankle clonus Renal agenesis Progressive gait ataxia Slow saccadic eye movements Ascites Saccadic smooth pursuit Increased mean platelet volume Intestinal lymphangiectasia Anxiety Abnormality of metabolism/homeostasis Conductive hearing impairment Deeply set eye EEG abnormality Fatigue Intellectual disability, mild Brachycephaly Constipation Dysmetria Hyporeflexia Areflexia Progressive cerebellar ataxia Generalized-onset seizure Flared nostrils Intention tremor Limb ataxia Diplopia Frontal bossing Fasciculations Brachydactyly Peripheral neuropathy Feeding difficulties Truncal ataxia EMG abnormality Slurred speech Eversion of lateral third of lower eyelids Two carpal ossification centers present at birth



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