Cataract, and Spastic tetraplegia

Diseases related with Cataract and Spastic tetraplegia

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


Top matches:

Medium match CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4; CDCBM4


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4; CDCBM4

Medium 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

Medium match 3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, INFANTILE/JUVENILE FORM


3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form

3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, INFANTILE/JUVENILE FORM Is also known as phgdh deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, INFANTILE/JUVENILE FORM

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Other less relevant matches:

Medium match CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME


ISQMR is a severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011).

CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME Is also known as congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME

Medium 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

Medium match X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME


X-linked intellectual disability-psychosis-macroorchidism syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).

X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME Is also known as lindsay-burn syndrome|mental retardation, x-linked 79|mrx79|ppmx|mental retardation, x-linked, with spasticity|mrx16|ppm-x|mental retardation with psychosis, pyramidal signs, and macroorchidism|mental retardation, x-linked 16

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME

Medium 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

Medium 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

Medium match 3-METHYLGLUTACONIC ACIDURIA TYPE 1


3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.

3-METHYLGLUTACONIC ACIDURIA TYPE 1 Is also known as 3-methylglutaconyl-coa hydratase deficiency|3mg-coa hydratase deficiency|mga1|3-mg-coa-hydratase deficiency|mga, type i

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 1

Medium 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

Top 5 symptoms//phenotypes associated to Cataract and Spastic tetraplegia

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

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

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Nystagmus Optic atrophy Spasticity Congenital cataract Flexion contracture Hypoplasia of the corpus callosum Abnormality of the cerebral white matter Microphthalmia Hypogonadism Myopia Decreased testicular size Ataxia Dystonia Visual impairment Hyperreflexia Cerebellar atrophy Leukoencephalopathy Spastic paraparesis Paraparesis Postnatal microcephaly Micrognathia Muscular hypotonia of the trunk Intellectual disability, severe Microcornea Macrotia Cortical dysplasia Polymicrogyria Lissencephaly Spastic paraplegia Paraplegia Hearing impairment Muscular hypotonia

Rare Symptoms - Less than 30% cases


Cardiomyopathy High myopia Intellectual disability, profound Aspiration Dysarthria Abnormality of visual evoked potentials Micropenis Strabismus Short stature Severe global developmental delay Spastic diplegia Cerebral cortical atrophy Hemiplegia Gait disturbance Macrocephaly Absent speech Babinski sign Brachycephaly Peripheral neuropathy Clitoral hypoplasia Hypoplastic labia minora Abnormality of the nervous system Frontoparietal polymicrogyria Amblyopia Scrotal hypoplasia Generalized myoclonic seizures Coma Cerebellar vermis hypoplasia Infantile spasms Encephalopathy Porencephalic cyst Kyphosis Intellectual disability, mild Right hemiplegia Progressive neurologic deterioration Abnormal cerebellum morphology Hypertonia Low anterior hairline Postnatal growth retardation Gait ataxia Neurodegeneration Heterotopia Pachygyria Choreoathetosis Delayed speech and language development Cerebral dysmyelination High palate Glaucoma Photophobia Dementia Scoliosis Short nose Corneal opacity Anterior synechiae of the anterior chamber Hydronephrosis Low-set, posteriorly rotated ears Joint stiffness Short philtrum Delayed puberty Hirsutism Hypoplasia of penis Deeply set eye Increased intraocular pressure Narrow mouth Optic neuritis Anterior segment developmental abnormality Hypopigmentation of the fundus Migraine with aura Retinal hemorrhage Neuritis Arterial tortuosity Rieger anomaly Polycoria Perivascular spaces Diffuse leukoencephalopathy Retinal arteriolar tortuosity Hypoplasia of the iris Peripapillary atrophy Posterior leukoencephalopathy Thalamic hemorrhage Corneal neovascularization Supraventricular tachycardia Cryptorchidism Ectopia pupillae Ptosis Wide nasal bridge Intrauterine growth retardation Anteverted nares Retinal arterial tortuosity Gastroesophageal reflux Abnormality of retinal pigmentation Testicular dysgenesis Febrile seizures Memory impairment Progressive visual loss Limb ataxia Spastic tetraparesis Athetosis Short attention span Skeletal myopathy Abnormality of the basal ganglia 3-Methylglutaconic aciduria Nonprogressive cerebellar ataxia Hyperchloremic acidosis Urinary incontinence Progressive forgetfulness Ventriculomegaly Clinodactyly of the 5th finger Kyphoscoliosis Blepharophimosis Peripheral axonal neuropathy Downturned corners of mouth Hypertrichosis Narrow palate External genital hypoplasia Ankle clonus Labial hypoplasia Aciduria Progressive cerebellar ataxia Cerebral visual impairment Hepatomegaly Generalized hirsutism Aplasia/Hypoplasia of the corpus callosum Decreased muscle mass Cerebellar vermis atrophy Severe postnatal growth retardation Retinal coloboma Abnormal localization of kidney Upper limb spasticity Failure to thrive Cognitive impairment Motor delay Myopathy Neutropenia Cerebral atrophy Recurrent infections Visual loss Hyperactivity Acidosis Scotoma Hypoglycemia Dilated cardiomyopathy Abnormality of movement Unsteady gait Confusion Metabolic acidosis Posterior embryotoxon Progressive spasticity Congenital glaucoma Retinal dystrophy Drusen Abnormal facial shape Anemia Reduced visual acuity Skeletal dysplasia Coarse facial features Hepatosplenomegaly Developmental regression Abnormality of eye movement Retinal degeneration Esotropia Delayed myelination Opacification of the corneal stroma Iron deficiency anemia Palpebral edema Severe vision loss Abnormality of abdomen morphology Increased serum ferritin Developmental stagnation Motor deterioration Decreased light- and dark-adapted electroretinogram amplitude Titubation Esodeviation Scaling skin Brain atrophy Hoarse cry Gray matter heterotopias Agyria Hydrocephalus Cerebellar hypoplasia Mental deterioration Muscular dystrophy Encephalocele Absence seizures Hypoplasia of the brainstem Occipital encephalocele Type II lissencephaly Thrombocytopenia Asthma Hypsarrhythmia Adducted thumb Megaloblastic anemia Congenital microcephaly Hernia Inguinal hernia Hyperkeratosis Pallor Erythema Dry skin Ichthyosis Dysplastic corpus callosum Progressive psychomotor deterioration Blurred vision Astigmatism Mania Juvenile cataract Headache Dilatation Depressivity Elevated serum creatine phosphokinase Facial palsy Retinopathy Stroke Hypermetropia Tachycardia Excessive salivation Hematuria Nephropathy Retinal detachment Hypopigmentation of the skin Renal cyst Muscle cramps Migraine Hemiparesis Dysphonia Intracranial hemorrhage Cerebral hemorrhage Progressive spastic paraparesis Slender build Oligosacchariduria Small hand Abnormality of mucopolysaccharide metabolism Truncal titubation Abnormality of ganglioside metabolism Tremor Short neck Abnormality of the dentition Pneumonia Pes cavus EEG abnormality Abnormal pyramidal sign Genu valgum Parkinsonism Shuffling gait Abnormality of extrapyramidal motor function Apraxia Psychosis Clumsiness Spastic gait Drooling Restlessness Poor coordination Facial hypotonia Macroorchidism Bruxism Shallow anterior chamber



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