Cataract, and Dystonia

Diseases related with Cataract and Dystonia

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


Top matches:

Low match CATARACT 36; CTRCT36


CATARACT 36; CTRCT36 Is also known as cataract, autosomal recessive congenital 4|catc4

Related symptoms:

  • Cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 36; CTRCT36

Low match HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME


Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.

HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME Is also known as hereditary hyperferritinemia with congenital cataracts|bonneau-beaumont syndrome|hhcs

Related symptoms:

  • Cataract
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME

Low match DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME


Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

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Other less relevant matches:

Low match DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY


Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 26


Autosomal 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

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Nystagmus
  • Muscle weakness
  • Cataract


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 26

Low match 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII; MGCA8


MGCA8 is an autosomal recessive metabolic disorder resulting in death in infancy. Features include hypotonia, abnormal movements, respiratory insufficiency with apneic episodes, and lack of developmental progress, often with seizures. Brain imaging is variable, but may show progressive cerebral atrophy. Laboratory studies show increased serum lactate and 3-methylglutaconic aciduria, suggesting a mitochondrial defect (summary by Mandel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII; MGCA8

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14; MDDGB14


MDDGB14 is an autosomal recessive congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and mental retardation. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Carss et al., 2013).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14; MDDGB14 Is also known as muscular dystrophy, congenital, gmppb-related

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14; MDDGB14

Low match CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3


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 (Mole et al., 2005).The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 Is also known as vogt-spielmeyer disease|batten disease|spielmeyer-sjogren disease|jncl|neuronal ceroid lipofuscinosis, juvenile

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3

Low match FAMILIAL PORENCEPHALY


Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

FAMILIAL PORENCEPHALY Is also known as t1p|porencephaly, type 1, autosomal dominant|adt1p|hemiplegia, infantile, with porencephaly porencephaly, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PORENCEPHALY

Low match MUCOLIPIDOSIS IV; ML4


Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. The lysosomal hydrolases in ML IV are normal, in contrast to most other storage diseases. The disorder results from a defect in transport along the lysosomal pathway, affecting membrane sorting and/or late steps of endocytosis, which causes intracellular accumulation of lysosomal substrates. Over 80% of the patients in whom the diagnosis of ML IV has been made are Ashkenazi Jews, including severely affected and mildly affected patients (Chen et al., 1998).

MUCOLIPIDOSIS IV; ML4 Is also known as ml iv|sialolipidosis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOLIPIDOSIS IV; ML4

Top 5 symptoms//phenotypes associated to Cataract and Dystonia

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

Patients with Cataract and Dystonia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Seizures Ventriculomegaly Strabismus Babinski sign Muscular hypotonia Feeding difficulties Intellectual disability, mild Dysarthria Cognitive impairment Elevated serum creatine phosphokinase Hypertonia Cerebellar atrophy Hypoplasia of the corpus callosum

Rare Symptoms - Less than 30% cases


Abnormal facial shape Cerebellar hypoplasia Dilatation Abnormality of extrapyramidal motor function Aciduria Postnatal microcephaly Muscle weakness Abnormal cerebellum morphology Tremor Anemia Cerebral atrophy Hyperreflexia Absent speech Hypertelorism Sensorineural hearing impairment Visual impairment High forehead Scoliosis Aspiration Optic atrophy Hearing impairment Retinal degeneration Blindness Mental deterioration Memory impairment Hydrocephalus Nevus Progressive visual loss Parkinsonism Pigmentary retinopathy Pendular nystagmus Stroke Abnormal pyramidal sign Polymicrogyria Hemolytic anemia Hematuria Renal cyst Muscle cramps Mitral valve prolapse Tetraparesis Hemiparesis Exotropia Progressive inability to walk Psychosis Generalized-onset seizure Oromandibular dystonia Progressive encephalopathy Undetectable electroretinogram Retinal atrophy Tapetoretinal degeneration Vegetative state Mildly elevated creatine phosphokinase Mutism Psychomotor deterioration Macular degeneration Cerebral palsy Vacuolated lymphocytes Aspiration pneumonia Autophagic vacuoles Intracellular accumulation of autofluorescent lipopigment storage material Increased neuronal autofluorescent lipopigment Concentric hypertrophic cardiomyopathy Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Presenile cataracts Clumsiness Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Cerebral degeneration Increased extraneuronal autofluorescent lipopigment Leukoencephalopathy Hypoplasia of the iris Drooling Severe vision loss Corneal opacity Abnormality of the cerebral white matter Abnormality of eye movement Retinal dystrophy Esotropia Spastic tetraplegia High myopia Progressive neurologic deterioration Amblyopia Opacification of the corneal stroma Iron deficiency anemia Palpebral edema Abnormality of abdomen morphology Abnormality of the nervous system Increased serum ferritin Developmental stagnation Motor deterioration Decreased light- and dark-adapted electroretinogram amplitude Titubation Esodeviation Cerebral dysmyelination Dysplastic corpus callosum Hoarse cry Progressive psychomotor deterioration Oligosacchariduria Abnormality of mucopolysaccharide metabolism Truncal titubation Developmental regression Photophobia Ischemic stroke Nuclear cataract Hemiplegia Intracranial hemorrhage Cerebral hemorrhage Dysphasia Cortical dysplasia Opisthotonus Visual field defect Limb dystonia Restlessness Posterior embryotoxon Hypertrophic cardiomyopathy Transient ischemic attack Facial paralysis Stroke-like episode Hepatosplenomegaly Porencephalic cyst Primitive reflex Hemianopia Pontocerebellar atrophy Schizencephaly Perivascular spaces Spastic hemiparesis Antenatal intracerebral hemorrhage Ataxia Myopia Reduced visual acuity Skeletal dysplasia Coarse facial features Confusion Poor head control Anxiety Adducted thumb Microphthalmia Acidosis Sparse hair Lactic acidosis Hepatic failure Bulbous nose Metabolic acidosis Delayed myelination Underdeveloped nasal alae Infantile muscular hypotonia Tented upper lip vermilion Peripheral neuropathy Short nose Skeletal muscle atrophy Gait disturbance Hyporeflexia Pes cavus Cerebral cortical atrophy Difficulty walking Spastic paraplegia Paraplegia Dysmetria Falls Distal amyotrophy Long philtrum Anteverted nares Frequent falls Cleft upper lip Short stature Cleft palate Dysphagia Abnormality of the skeletal system Kyphosis Immunodeficiency Kyphoscoliosis Cleft lip Small for gestational age Micromelia Oral cleft Neurodegeneration Frontal bossing Macroglossia Generalized dystonia Mild global developmental delay Hypoplastic scapulae Bulbar signs Achalasia Externally rotated hips High palate Depressed nasal bridge Epicanthus Downslanted palpebral fissures Dyskinesia Lower limb spasticity Glaucoma Prolonged QT interval Ptosis Flexion contracture Intellectual disability, severe Abnormal heart morphology Muscular dystrophy Generalized muscle weakness Decreased fetal movement Torticollis Abnormality of metabolism/homeostasis Congenital muscular dystrophy Myopathic facies Hypoglycosylation of alpha-dystroglycan Increased CSF lactate Generalized limb muscle atrophy Ileal atresia Cardiomyopathy Behavioral abnormality Depressivity Encephalopathy Visual loss Pneumonia Rod-cone dystrophy Dementia Myoclonus 3-Methylglutaconic aciduria Weak cry Spastic gait Pseudobulbar paralysis Sensorimotor neuropathy Paraparesis Spastic paraparesis Abnormality of the urinary system Premature ovarian insufficiency Toe walking Emotional lability Impaired vibratory sensation Brisk reflexes Urinary urgency Decreased serum testosterone level Impaired vibration sensation at ankles Poor suck Hyperintensity of cerebral white matter on MRI Scissor gait Growth delay Fever Respiratory insufficiency Respiratory failure Apnea Neutropenia Generalized myoclonic seizures Increased serum lactate Bradycardia Clonus Abnormality of ganglioside metabolism



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