Cataract, and Leukoencephalopathy

Diseases related with Cataract and Leukoencephalopathy

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


Top matches:

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Stevens et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3galnt2-related

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Cataract
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11

Low match COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT


Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.

COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT Is also known as lissencephaly type 2 without muscular or ocular involvement|lissencephaly type 2 without muscular or eye involvement|cobblestone lissencephaly without muscular or eye involvement

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B


Autosomal recessive SPG9B is a neurologic disorder characterized by early-onset complex spastic paraplegia. Affected individuals had delayed psychomotor development, intellectual disability, and severe motor impairment. More variable features include dysmorphic facial features, tremor, and urinary incontinence (summary by Coutelier et al., 2015).For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM ).

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B Is also known as ar-spg9b

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B

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Other less relevant matches:

Low match HANAC SYNDROME


Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.

HANAC SYNDROME Is also known as hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome|autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Related symptoms:

  • Seizures
  • Strabismus
  • Cataract
  • Flexion contracture
  • Visual impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HANAC SYNDROME

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (van Reeuwijk et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomt2-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2

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 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 MYOTONIC DYSTROPHY 2; DM2


Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals with DM2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. Other features may include cognitive dysfunction, hypersomnia, tremor, and hearing loss (summary by Heatwole et al., 2011).See also myotonic dystrophy-1 (DM1 ), caused by an expanded CTG repeat in the dystrophia myotonica protein kinase gene (DMPK ) on 19q13.Although originally reported as 2 disorders, myotonic dystrophy-2 and proximal myotonic myopathy are now referred to collectively as DM2 (Udd et al., 2003).

MYOTONIC DYSTROPHY 2; DM2 Is also known as promm|proximal myotonic myopathy|dystrophia myotonica 2|myotonic myopathy, proximal|ricker syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 2; DM2

Low match COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY


COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY Is also known as col4a1-related brain small vessel disease with hemorrhage|leukoencephalopathy with axenfeld-rieger anomaly|brain small vessel disease with axenfeld-rieger anomaly|brain small vessel disease with hemorrhage|infantile hemiparesis|retinal arteriolar tortuosi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

Top 5 symptoms//phenotypes associated to Cataract and Leukoencephalopathy

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Dilatation Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Polymicrogyria Muscular dystrophy Abnormality of the cerebral white matter Cerebellar hypoplasia Muscle weakness Hydrocephalus Hemiplegia Visual impairment Porencephalic cyst Strabismus Cerebellar atrophy Tetraplegia Stroke Generalized hypotonia Dysarthria Hearing impairment Renal cyst Hematuria Type II lissencephaly Spasticity Cognitive impairment Myopia Perivascular spaces Microphthalmia Hypoplasia of the iris Posterior embryotoxon Lissencephaly Cerebral hemorrhage Microcephaly Muscle cramps

Rare Symptoms - Less than 30% cases


Limb muscle weakness Tremor Congenital glaucoma Babinski sign Tachycardia Abnormality of the periventricular white matter Congenital cataract Nephropathy Hypermetropia Diffuse leukoencephalopathy Primitive reflex Glaucoma Ventriculomegaly Flexion contracture Headache Retinal arterial tortuosity Arrhythmia Ischemic stroke Retinal arteriolar tortuosity Skeletal muscle atrophy Growth delay Arterial tortuosity Gait disturbance Heterotopia Encephalocele Paraplegia Spastic paraplegia Hemiparesis Mental deterioration Cerebellar cyst Infantile spasms Cerebellar dysplasia Hypoplasia of the pons Congenital muscular dystrophy Intracranial hemorrhage Severe muscular hypotonia Retinal detachment Hypoplasia of the brainstem Spastic tetraplegia Cardiomyopathy Retinal hemorrhage Right hemiplegia Sudden cardiac death Myalgia Myotonia Transient ischemic attack Facial paralysis Myopathy Diabetes mellitus Dysphagia Proximal muscle weakness Nuclear cataract Stroke-like episode Hemianopia Hypertension Distal muscle weakness Ptosis Hypogonadism Pain Decreased antibody level in blood Palpitations Confusion Lower limb muscle weakness Antenatal intracerebral hemorrhage Progressive muscle weakness Hypercholesterolemia Spastic hemiparesis Spontaneous abortion Schizencephaly Pontocerebellar atrophy Infertility Dilated cardiomyopathy Congestive heart failure Iridescent posterior subcapsular cataract Epiphora Corneal neovascularization Amblyopia Paraparesis Spastic paraparesis Dysphonia Blurred vision Scotoma Increased intraocular pressure Ectopia pupillae Supraventricular tachycardia Anterior segment developmental abnormality Microcornea Anterior synechiae of the anterior chamber Hypopigmentation of the fundus Migraine with aura Neuritis Rieger anomaly Polycoria Optic neuritis Peripapillary atrophy Posterior leukoencephalopathy Migraine Hypopigmentation of the skin Increased variability in muscle fiber diameter Type 2 muscle fiber atrophy Neurofibrillary tangles IgG deficiency Oligospermia Male hypogonadism Elevated circulating follicle stimulating hormone level IgM deficiency Neck flexor weakness Arteriosclerosis Hypersomnia Frontal balding Astigmatism Insulin insensitivity Limb dystonia Nystagmus Intellectual disability, mild Depressivity Dementia Abnormality of the nervous system Facial palsy Retinopathy Corneal opacity Restlessness Intellectual disability, severe Visual field defect Toe walking Kyphoscoliosis Unsteady gait Urinary incontinence Spastic gait Foot dorsiflexor weakness Postural tremor Impaired vibratory sensation Lower limb hyperreflexia Absent speech Loss of speech Mild microcephaly Corpus callosum atrophy Absent Achilles reflex Urinary retention Pseudobulbar paralysis Pollakisuria Hyperreflexia in upper limbs Cerebral cortical atrophy Hyperreflexia Impaired continence Neurodegeneration Blindness Muscular hypotonia of the trunk Optic nerve hypoplasia Muscular hypotonia Macrocephaly Optic atrophy Severe global developmental delay Coma Motor delay Abnormal cerebellum morphology Progressive neurologic deterioration Absence seizures Occipital encephalocele Gray matter heterotopias Short stature Abnormal facial shape Delayed speech and language development Impaired vibration sensation at ankles Renal insufficiency Opisthotonus Dystonia Buphthalmos Peters anomaly Persistent pupillary membrane Moderate myopia Abnormality of metabolism/homeostasis Anemia Hypertonia Abnormal pyramidal sign Spinal rigidity Hemolytic anemia Mitral valve prolapse Tetraparesis Exotropia Cerebral palsy Drooling Dysphasia Cortical dysplasia Retinal atrophy Skeletal muscle hypertrophy Visual loss Cleft palate Dilatation of the cerebral artery Multiple renal cysts Microscopic hematuria Raynaud phenomenon Supraventricular arrhythmia Retinal vascular tortuosity Macroscopic hematuria Scoliosis Respiratory insufficiency Congenital contracture Neonatal hypotonia Cleft lip Cleft upper lip Macroglossia Intellectual disability, profound Cerebellar vermis hypoplasia Pachygyria Aplasia/Hypoplasia of the corpus callosum Thalamic hemorrhage



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