In the following list you will find some of the most common rare diseases related to Cataract and Intellectual disability, mild that can help you solving undiagnosed cases.
Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment.
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 69 Is also known as spg69
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Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.
WEILL-MARCHESANI SYNDROME Is also known as spherophakia-brachymorphia syndrome
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Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract.
GYRATE ATROPHY OF CHOROID AND RETINA Is also known as ornithine-delta-aminotransferase deficiency|hoga|hyperornithinemia-gyrate atrophy of choroid and retina syndrome|gyrate atrophy|oat deficiency|ornithine aminotransferase deficiency|hyperornithinemia|ornithine keto acid aminotransferase deficiency|okt defi
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SOURCES: OMIM MESH ORPHANET MENDELIAN
More info about GYRATE ATROPHY OF CHOROID AND RETINASC4MOL deficiency represents an inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected patients. The associated features of immune dysregulation, skin disease, and growth delay can be at least partially corrected with cholesterol and statin supplements (He et al., 2014).
MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME Is also known as smo deficiency|sterol-c4-methyl oxidase deficiency|sc4mol deficiency
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SOURCES: OMIM ORPHANET MENDELIAN
More info about MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROMEHypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.
HYPOMYELINATION-CONGENITAL CATARACT SYNDROME Is also known as hypomyelination and congenital cataract: hcc
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SOURCES: OMIM MESH ORPHANET MENDELIAN
More info about HYPOMYELINATION-CONGENITAL CATARACT SYNDROMEPBD14B is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy (Ebberink et al., 2012), all of which had been observed in patients with mild peroxisomal biogenesis disorders (e.g., Kelley et al., 1986; Poll-The et al., 1987). Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, was reported.Thoms and Gartner (2012) classified the disorder described by Ebberink et al. (2012) in their patient as a mild 'Zellweger syndrome (OMIM ) spectrum' (ZSS) disorder. See PBD1B (OMIM ) for a phenotypic description and discussion of genetic heterogeneity of less severe phenotypes on the Zellweger syndrome spectrum. See PBD9B (OMIM ) for another atypical peroxisome biogenesis disorder.
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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
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SOURCES: OMIM ORPHANET MENDELIAN
More info about ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIAAutosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2T Is also known as muscular dystrophy-dystroglycanopathy, limb-girdle, gmppb-related|muscular dystrophy, limb-girdle, autosomal recessive 19|muscular dystrophy, limb-girdle, type 2t|lgmd2t|lgmdr19
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SOURCES: ORPHANET OMIM MENDELIAN
More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2TDevelopmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.
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SOURCES: MESH ORPHANET OMIM MENDELIAN
More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROMEAutosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 26 Is also known as gm2 synthase deficiency|spg26
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SOURCES: ORPHANET MESH OMIM MENDELIAN
More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 26Symptoms // Phenotype | % cases |
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Intellectual disability | Common - Between 50% and 80% cases |
Global developmental delay | Uncommon - Between 30% and 50% cases |
Nystagmus | Uncommon - Between 30% and 50% cases |
Muscle weakness | Uncommon - Between 30% and 50% cases |
Hyperreflexia | Uncommon - Between 30% and 50% cases |
Patients with Cataract and Intellectual disability, mild. may also develop some of the following symptoms:
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