Ataxia, and Corneal dystrophy

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

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

SOURCES: OMIM MESH ORPHANET MENDELIAN

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

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

SOURCES: ORPHANET OMIM MESH MENDELIAN

Low match CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2; PPCD2

• Corneal opacity
• Corneal dystrophy

SOURCES: OMIM MESH MENDELIAN

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

• Visual impairment
• Edema
• Corneal dystrophy

SOURCES: OMIM MENDELIAN

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

• Edema
• Reduced visual acuity
• Corneal dystrophy

SOURCES: OMIM MENDELIAN

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 ).

• Edema
• Reduced visual acuity
• Corneal dystrophy

SOURCES: OMIM MENDELIAN

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

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: ORPHANET OMIM MESH MENDELIAN

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

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: ORPHANET OMIM MENDELIAN