Ataxia, and Corneal dystrophy

Diseases related with Ataxia and Corneal dystrophy

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


Top 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 MUCOLIPIDOSIS TYPE II


Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.

MUCOLIPIDOSIS TYPE II Is also known as i-cell disease|ml ii|mucolipidosis ii|n-acetylglucosamine 1-phosphotransferase deficiency|mucolipidosis type ii alpha/beta|ml ii alpha/beta|icd

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUCOLIPIDOSIS TYPE II

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Other less relevant matches:

Low match CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3


Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision (Sundin et al., 2006).For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (OMIM ).

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3 Is also known as corneal dystrophy, fuchs endothelial, late-onset|fcd2 locus

Related symptoms:

  • Visual impairment
  • Edema
  • Corneal dystrophy


SOURCES: OMIM MENDELIAN

More info about CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3

Low match CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4


Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013).For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (OMIM ).

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4 Is also known as corneal dystrophy, fuchs endothelial, late-onset

Related symptoms:

  • Edema
  • Reduced visual acuity
  • Corneal dystrophy


SOURCES: OMIM MENDELIAN

More info about CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4

Low match CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8; FECD8


Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013).For a discussion of genetic heterogeneity of FECD, see FECD1 (OMIM ).

Related symptoms:

  • Edema
  • Reduced visual acuity
  • Corneal dystrophy


SOURCES: OMIM MENDELIAN

More info about CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8; FECD8

Low match MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2


Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).

MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 Is also known as hunter syndrome|sulfoiduronate sulfatase deficiency|sids deficiency|mps ii|ids deficiency|iduronate 2-sulfatase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2

Low match AGEL AMYLOIDOSIS


AGel amyloidosis is a rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.

AGEL AMYLOIDOSIS Is also known as amyloid cranial neuropathy with lattice corneal dystrophy|amyloidosis, meretoja type|amyloidosis due to mutant gelsolin|amyloidosis v|familial amyloidosis, finnish type|gelsolin amyloidosis|familial amyloid polyneuropathy type iv|hereditary amyloidosis, f

Related symptoms:

  • Cataract
  • Ptosis
  • Peripheral neuropathy
  • Cardiomyopathy
  • Renal insufficiency


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AGEL AMYLOIDOSIS

Low match PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR


X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016).

PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR Is also known as xlpdr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR

Low match USHER SYNDROME TYPE 3


Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1985; Pakarinen et al., 1995).For a discussion of phenotypic heterogeneity of Usher syndrome, see USH1 (OMIM ). Genetic Heterogeneity of Usher syndrome Type IIIUsher syndrome type IIIB (OMIM ) is caused by mutation in the HARS gene (OMIM ) on chromosome 5q31.3.

USHER SYNDROME TYPE 3 Is also known as ush3|usher syndrome, type iii

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about USHER SYNDROME TYPE 3

Top 5 symptoms//phenotypes associated to Ataxia and Corneal dystrophy

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Edema Uncommon - Between 30% and 50% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Corneal dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Inguinal hernia Visual loss Blindness Corneal opacity Intellectual disability Reduced visual acuity Cataract

Rare Symptoms - Less than 30% cases


Coarse facial features Failure to thrive Hepatomegaly Amyloidosis Congestive heart failure Splenomegaly Kyphosis Hernia Pneumonia Recurrent respiratory infections Severe short stature Osteopenia Respiratory tract infection Umbilical hernia Hearing impairment Macroglossia Split hand Recurrent otitis media Hoarse voice Rod-cone dystrophy Opacification of the corneal stroma Diarrhea Aortic regurgitation Abnormal heart valve morphology Ptosis Myelopathy Urinary glycosaminoglycan excretion Recurrent pneumonia Dysostosis multiplex Epicanthus Generalized hypotonia Thin skin Progressive visual loss Hydrocephalus Glaucoma Retinal degeneration Depressed nasal bridge Nyctalopia Abnormal facial shape Everted lower lip vermilion Sleep apnea Incoordination Mild short stature Polyneuropathy Scaphocephaly Papilledema Obstructive sleep apnea Intestinal pseudo-obstruction Retinal fold Heparan sulfate excretion in urine Poor speech Cervical cord compression Tracheobronchomalacia Spastic tetraparesis Retinoschisis Dermatan sulfate excretion in urine Peripheral neuropathy Renal insufficiency Proteinuria Paralysis Widely spaced teeth Exercise intolerance Intellectual disability, progressive Abnormality of the cerebral white matter Motor delay Cognitive impairment Flexion contracture Macrocephaly Short neck Strabismus Pes cavus Nystagmus Hepatosplenomegaly Apnea Retinopathy Attention deficit hyperactivity disorder Dolichocephaly Neurodegeneration Nephrotic syndrome Delayed eruption of teeth Postural instability Tetraplegia Asthma Pigmentary retinopathy Spastic tetraplegia Intellectual disability, profound Thick lower lip vermilion Tetraparesis Hypertrichosis Progressive neurologic deterioration Abnormality of retinal pigmentation Elbow flexion contracture Hypotension Macular degeneration Palpitations Abnormality of the eye Corneal scarring Broad eyebrow Urethral stricture Recurrent infection of the gastrointestinal tract Cutaneous amyloidosis Generalized reticulate brown pigmentation Neoplasm Sensorineural hearing impairment Depressivity Hyporeflexia Anxiety Astigmatism Focal dystonia Hallucinations Progressive hearing impairment Schizophrenia Abnormal electroretinogram Vestibular dysfunction Visual field defect Scotoma High hypermetropia Peripheral visual field loss Iris hypopigmentation Hemianopia Vestibular hypofunction Enterocolitis Ulcerative colitis Abnormal autonomic nervous system physiology Dystonia Cutis laxa Orthostatic hypotension Abnormality of abdomen morphology Bulbar signs Facial paralysis Mild proteinuria Lattice corneal dystrophy Cardiac amyloidosis Bilateral facial palsy Generalized amyloid deposition Dysarthria Gait disturbance Abnormality of metabolism/homeostasis Colitis Hyperkeratosis Photophobia Scarring Abnormality of skin pigmentation Chronic diarrhea Bronchiectasis Hypohidrosis Hyperpigmentation of the skin Failure to thrive in infancy Hemiplegia Keratitis Inflammation of the large intestine Bulbar palsy Beaking of vertebral bodies T12-L3 Myopia Retinal detachment Growth delay Narrow face Abnormality of the hair Abnormality of the skeletal system Talipes equinovarus Anteverted nares Pachygyria Encephalocele High myopia Long philtrum Vesicoureteral reflux Bulbous nose Horizontal nystagmus Polymicrogyria Weight loss High forehead Joint hyperflexibility Congenital cataract Neonatal hypotonia Hypertrophic cardiomyopathy Joint laxity Leukemia Joint stiffness Hip dislocation Severe global developmental delay Short stature Cephalocele Brain atrophy Large forehead Ectopia lentis Dextrocardia Cortical dysplasia Chorioretinal atrophy Absent septum pellucidum Occipital encephalocele Aplasia cutis congenita Acute lymphoblastic leukemia Meningocele Vitreoretinopathy Calvarial skull defect Anomalous pulmonary venous return Bifid ureter Aplasia cutis congenita of scalp Total anomalous pulmonary venous return Macular hypoplasia Lens luxation Band keratopathy Lymphangioma Phthisis bulbi Abnormal vitreous humor morphology Cerebellar malformation Exudative retinal detachment Peripapillary atrophy Occipital meningocele Short palm Wide intermamillary distance Lower thoracic interpediculate narrowness Mucopolysacchariduria Corneal erosion Flat acetabular roof Recurrent bronchitis Hypoplastic scapulae Cerebellar atrophy Ovoid vertebral bodies Lack of skin elasticity Flared iliac wings Abnormality of the rib cage Carpal bone hypoplasia Abnormality of nervous system morphology Cavernous hemangioma Radial bowing Broad alveolar ridges Large sella turcica Atlantoaxial dislocation Thoracolumbar kyphoscoliosis Ventriculomegaly Increased serum beta-hexosaminidase Increased serum iduronate sulfatase activity Deficiency of N-acetylglucosamine-1-phosphotransferase Bullet-shaped phalanges of the hand Progressive alveolar ridge hypertropy Varus deformity of humeral neck Pyloric stenosis Diastasis recti Severe postnatal growth retardation Hip dysplasia Midface retrusion Narrow forehead Cardiomegaly Mental deterioration Retrognathia Thickened skin Gingival overgrowth Sparse and thin eyebrow Alopecia Congenital hip dislocation Generalized hirsutism Patent ductus arteriosus Short long bone Megalocornea Metaphyseal widening Abnormality of the thorax Heart murmur Flared metaphysis Pericardial effusion Pathologic fracture Vertebral fusion Cerebral atrophy Thickened calvaria Hypoplasia of the odontoid process Palpebral edema Protuberant abdomen Abnormal cochlea morphology



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Polydactyly, related diseases and genetic alterations Optic atrophy and Cerebral calcification, related diseases and genetic alterations Macrocephaly and Hernia, related diseases and genetic alterations Lymphoma and Hypopigmentation of the skin, related diseases and genetic alterations Cleft palate and Stroke, related diseases and genetic alterations

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