Optic atrophy, and Congenital cataract

Diseases related with Optic atrophy and Congenital cataract

In the following list you will find some of the most common rare diseases related to Optic atrophy and Congenital cataract that can help you solving undiagnosed cases.


Top matches:

High match WARBURG MICRO SYNDROME 2; WARBM2


WARBURG MICRO SYNDROME 2; WARBM2 Is also known as micro syndrome 2

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Cataract
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 2; WARBM2

High match MUSCLE-EYE-BRAIN DISEASE


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' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome|santavuori congenital muscular dystrophy|walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related|muscle-eye-brain syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUSCLE-EYE-BRAIN DISEASE

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Other less relevant matches:

High match OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME


Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

High match ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME


Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME Is also known as gillespie syndrome|aniridia, cerebellar ataxia, and mental retardation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME

High match MICRO SYNDROME


Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.

MICRO SYNDROME Is also known as warbm|warburg micro syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICRO SYNDROME

High match WARBURG MICRO SYNDROME 3; WARBM3


Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010).For a discussion of genetic heterogeneity of Warburg Micro syndrome, see {600118}.

WARBURG MICRO SYNDROME 3; WARBM3 Is also known as micro syndrome 3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 3; WARBM3

High match SCHINDLER DISEASE, TYPE I


Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (OMIM ), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).

SCHINDLER DISEASE, TYPE I Is also known as neuroaxonal dystrophy, schindler type|naga deficiency, type i|alpha-n-acetylgalactosaminidase deficiency, type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHINDLER DISEASE, TYPE I

High match WALKER-WARBURG SYNDROME


Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

High match CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE


Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Top 5 symptoms//phenotypes associated to Optic atrophy and Congenital cataract

Symptoms // Phenotype % cases
Cataract Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Optic atrophy and Congenital cataract. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Intellectual disability, severe

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Common Symptoms - More than 50% cases


Microphthalmia

Uncommon Symptoms - Between 30% and 50% cases


Polymicrogyria

Common Symptoms - More than 50% cases


Hypoplasia of the corpus callosum

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Flexion contracture Muscular hypotonia of the trunk Nystagmus Abnormality of the cerebral white matter Cerebellar hypoplasia Spasticity Cortical dysplasia Glaucoma Pachygyria Lissencephaly Low anterior hairline Microcornea Strabismus Visual impairment Myopia Micrognathia Ventriculomegaly Absent speech Short nose Cerebellar vermis hypoplasia Cerebral cortical atrophy Peripheral neuropathy Scoliosis Brachycephaly Dilatation Hypoglycosylation of alpha-dystroglycan Elevated serum creatine phosphokinase Abnormal cerebellum morphology Intrauterine growth retardation Agenesis of corpus callosum Cerebellar atrophy Tetraplegia Neonatal hypotonia Cerebellar cyst Coloboma Muscular dystrophy Encephalocele Type II lissencephaly Cerebellar dysplasia Buphthalmos Aplasia/Hypoplasia of the corpus callosum Optic nerve hypoplasia Congenital muscular dystrophy Hypoplasia of the brainstem Retinal dysplasia Intellectual disability, profound Myopathy Micropenis Macrotia Severe global developmental delay Postnatal microcephaly Scrotal hypoplasia Hydronephrosis Spastic diplegia Cryptorchidism Cognitive impairment Muscle weakness Hydrocephalus

Rare Symptoms - Less than 30% cases


Hyporeflexia Retinal detachment Pulmonic stenosis Inability to walk Delayed speech and language development Blindness Ataxia Frontoparietal polymicrogyria Apnea Mask-like facies Poor head control Hypoplasia of penis Spastic tetraplegia Frontal bossing Hypogonadism Anteverted nares Gait ataxia Mandibular prognathia Corneal opacity Deeply set eye Hypertrophic cardiomyopathy Skeletal muscle atrophy Delayed puberty Macrocephaly Peripheral axonal neuropathy Areflexia Agyria Ptosis Motor delay Gastroesophageal reflux Decreased testicular size Myoclonus Gait disturbance Holoprosencephaly Generalized muscle weakness Megalocornea Growth delay Generalized amyotrophy Generalized myoclonic seizures EMG abnormality Clitoral hypoplasia Severe muscular hypotonia Hypoplastic labia minora Postnatal growth retardation Cerebral visual impairment Abnormality of movement Congenital glaucoma Retinal atrophy Neurological speech impairment EEG abnormality Recurrent pneumonia Angiokeratoma corporis diffusum Microtia Retinopathy Clonus Iris coloboma Anal atresia Cleft upper lip Oral cleft Protruding ear Retinal dystrophy Osteopenia Bifid uvula Dandy-Walker malformation Autism Lymphedema Vegetative state Cleft lip Angiokeratoma Thick vermilion border Vertigo Developmental regression Coarse facial features Progressive psychomotor deterioration Long-tract signs Skeletal dysplasia Oligosacchariduria Increased urinary O-linked sialopeptides Vascular skin abnormality Proptosis Hypertelorism Cleft palate Diffuse white matter abnormalities Low-set ears Generalized-onset seizure Heterotopia Psychomotor deterioration Cardiomegaly Posteriorly rotated ears Specific learning disability Respiratory insufficiency Renal dysplasia Plagiocephaly Camptodactyly of finger Hip dislocation Dilated cardiomyopathy Dolichocephaly Arthrogryposis multiplex congenita Hypermetropia Brain atrophy Preauricular skin tag Bradycardia Congenital hip dislocation Hemivertebrae Knee flexion contracture Skeletal muscle hypertrophy Rigidity Increased variability in muscle fiber diameter Calf muscle hypertrophy Multiple joint contractures Spinal rigidity Transposition of the great arteries Weak cry Atrophy/Degeneration affecting the brainstem Anencephaly Ankle contracture Myocardial fibrosis Exaggerated startle response Thoracic hemivertebrae Cephalocele Abnormality of the pinna Pectus excavatum Atresia of the external auditory canal Remnants of the hyaloid vascular system Congenital contracture Anophthalmia Abnormality of neuronal migration Absent septum pellucidum Occipital encephalocele Submucous cleft hard palate Bilateral cleft lip Abnormal cortical gyration Abnormality of the optic nerve Aqueductal stenosis Peters anomaly Muscle fiber splitting Excessive daytime sleepiness Posterior fossa cyst Atrial septal defect Meningoencephalocele Abnormal levels of creatine kinase in blood Abnormality of the cerebellar vermis Metatarsus valgus Severe hydrocephalus Macrogyria Abnormal lactate dehydrogenase activity Chorioretinal dysplasia Hypoplastic male external genitalia Aplasia/Hypoplasia involving the skeletal musculature Thick cerebral cortex Abnormal aldolase level Respiratory distress Constipation Aniridia Hepatomegaly Upslanted palpebral fissure Undetectable electroretinogram Decreased light- and dark-adapted electroretinogram amplitude Uncontrolled eye movements Hypoplasia of the retina Short nasal bridge Enlarged flash visual evoked potentials Abnormal facial shape Feeding difficulties Abnormality of the skeletal system Cardiomyopathy Delayed skeletal maturation High forehead Meningocele Pectus carinatum Abnormality of the foot Long face Distal amyotrophy Increased serum lactate Esotropia Aciduria Hip dysplasia Absence seizures Abnormality of mitochondrial metabolism Dysarthria Hypoplasia of the pons Hemiplegia/hemiparesis Tremor Hypoplastic labia majora Hypertension Dysphagia Delayed myelination Renal hypoplasia Nephrolithiasis Aminoaciduria Nephrocalcinosis Calcinosis Prominent nasal bridge Overlapping toe Global brain atrophy Asymmetry of the ears Aplasia/Hypoplasia of the cerebellum Undetectable visual evoked potentials Hypertonia Malar flattening Midface retrusion Pallor Retinal degeneration Everted lower lip vermilion High myopia Opacification of the corneal stroma Infantile muscular hypotonia Abnormality of the voice Downslanted palpebral fissures Intellectual disability, mild Hyperreflexia Abnormal localization of kidney Low-set, posteriorly rotated ears Joint stiffness Short philtrum Hirsutism Abnormality of retinal pigmentation Generalized hirsutism Decreased muscle mass Cerebellar vermis atrophy Abnormality of visual evoked potentials Severe postnatal growth retardation Retinal coloboma Upper limb spasticity Kyphosis Clinodactyly of the 5th finger Kyphoscoliosis Blepharophimosis Downturned corners of mouth Hypertrichosis Narrow palate External genital hypoplasia Ankle clonus Labial hypoplasia Shallow anterior chamber Hearing impairment Narrow mouth Wide nasal bridge Cerebral atrophy Brisk reflexes Reduced visual acuity Synophrys Unsteady gait High, narrow palate Hypopigmentation of the skin Apraxia Involuntary movements Limb ataxia Slurred speech Bilateral ptosis Postural tremor Hypoplasia of the iris High palate Hearing abnormality Hypoplasia of the fovea Speech apraxia Titubation Abnormality of the pulmonary artery Broad distal phalanx of finger Scanning speech Craniofacial asymmetry Truncal titubation Frontal cortical atrophy Short stature Hypoplasia of the pyramidal tract



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