Cataract, and Tetraparesis

Diseases related with Cataract and Tetraparesis

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


Top matches:

Medium match SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY


Peroxisomal fatty acyl-CoA reductase-1 disorder is an autosomal recessive disorder characterized by onset in infancy of severely delayed psychomotor development, growth retardation with microcephaly, and seizures. Some patients may have congenital cataracts and develop spasticity later in childhood. Biochemical studies tend to show decreased plasmalogen, consistent with a peroxisomal defect. The disorder is reminiscent of rhizomelic chondrodysplasia punctata (see, e.g., RCDP1, {215100}), although the characteristic skeletal abnormalities observed in RCDP are absent (Buchert et al., 2014).

SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY Is also known as severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder|severe intellectual disability-epilepsy-cataract syndrome due to far1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY

Medium match NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA


NMIHBA is a severe, autosomal recessive, neurodevelopmental, and neurodegenerative disorder characterized by global developmental delay apparent from infancy and profound intellectual disability. Affected individuals have microcephaly with accompanying dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows variable abnormalities, including cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination (summary by Zollo et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA

Medium 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

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Other less relevant matches:

Medium match INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA


Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.

INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA Is also known as pagetoid neuroskeletal syndrome|msp1|pagetoid amyotrophic lateral sclerosis|multisystem proteinopathy 1|muscular dystrophy, limb-girdle, with paget disease of bone|limb-girdle muscular dystrophy with paget disease of bone|ibmpfd|lower motor neuron degener

Related symptoms:

  • Intellectual disability
  • Short stature
  • Muscle weakness
  • Cataract
  • Skeletal muscle atrophy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA

Medium match CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME


Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Medium match ISOLATED COMPLEX III DEFICIENCY


Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).

ISOLATED COMPLEX III DEFICIENCY Is also known as isolated coq-cytochrome c reductase deficiency|isolated ubiquinone-cytochrome c reductase deficiency|isolated mitochondrial respiratory chain complex iii deficiency|isolated coenzyme q-cytochrome c reductase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED COMPLEX III DEFICIENCY

Medium match WARBURG MICRO SYNDROME 1; WARBM1


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). Genetic Heterogeneity of Warburg Micro SyndromeWarburg Micro syndrome-2 (WARBM2 ) is caused by mutation in the RAB3GAP2 gene (OMIM ) on chromosome 1q41. WARBM3 (OMIM ) is caused by mutation in the RAB18 gene (OMIM ) on chromosome 10p12. WARBM4 (OMIM ) is caused by mutation in the TBC1D20 gene (OMIM ) on chromosome 20p13.See also Martsolf syndrome (OMIM ), a clinically overlapping but milder autosomal recessive disorder caused by autosomal recessive mutation in the RAB3GAP2 gene.Handley et al. (2013) provided an overview of the disease variants identified in the RAB3GAP1, RAB3GAP2, and RAB18 genes, noting that a total of 144 families with WARBM and 9 families with Martsolf syndrome had been studied. Mutations were identified in RAB3GAP1 in 41% of cases, in RAB3GAP2 in 7% of cases, and in RAB18 in 5% of cases. Although RAB18 had not been linked to RAB3 pathways, Handley et al. (2013) stated that mutations in all 3 genes cause an indistinguishable phenotype, making it likely that there is some functional overlap.

WARBURG MICRO SYNDROME 1; WARBM1 Is also known as micro syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 1; WARBM1

Medium match HYPERLYSINEMIA


Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.

HYPERLYSINEMIA Is also known as hyperlysinemia type i|lysine alpha-ketoglutarate reductase deficiency|lysine:alpha-ketoglutarate reductase deficiency|l-lysine:nad-oxido-reductase deficiency|alpha-aminoadipic semialdehyde synthase deficiency|lysine intolerance

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERLYSINEMIA

Medium match SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A


Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH ) and sulfite oxidase (SUOX ), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). Genetic Heterogeneity of Molybdenum Cofactor DeficiencySee also MOCOD, complementation group B (MOCODB ), caused by mutation in the MOCS2 gene (OMIM ) on chromosome 5q11; and MOCOD, complementation group C (MOCODC ), caused by mutation in the GPHN gene (OMIM ) on chromosome 14q24.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A Is also known as sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type a|mocod type a

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A

Medium match SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE B


Molybdenum cofactor deficiency is a rare autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood (summary by Reiss et al., 1999).For a general phenotypic description and a discussion of genetic heterogeneity of MOCOD, see MOCODA (OMIM ), which is clinically indistinguishable from MOCODB.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE B Is also known as combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type b|mocod type b

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE B

Top 5 symptoms//phenotypes associated to Cataract and Tetraparesis

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

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

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Ventriculomegaly

Common Symptoms - More than 50% cases


Spasticity

Uncommon Symptoms - Between 30% and 50% cases


Long philtrum Cerebral atrophy Hyperreflexia Hypertonia Cerebellar atrophy Abnormal facial shape Growth delay Short stature Muscular hypotonia of the trunk Cerebellar hypoplasia Failure to thrive Hypoplasia of the corpus callosum Hypertelorism Cerebral cortical atrophy Congenital cataract Nystagmus Brain atrophy Neuronal loss in central nervous system Anemia Cognitive impairment Polymicrogyria Ectopia lentis Cerebral visual impairment Delayed myelination Feeding difficulties Cardiomyopathy Macrotia Short nose Flexion contracture Opisthotonus High palate Gliosis Muscle weakness Skeletal muscle atrophy Muscular hypotonia

Rare Symptoms - Less than 30% cases


Macrocephaly Progressive muscle weakness Corneal opacity Coma Hypertrichosis Vomiting Hypertrophic cardiomyopathy Elevated hepatic transaminase Encephalopathy Micropenis Micrognathia Cerebral palsy Deeply set eye Hemiplegia Intellectual disability, severe Dysphasia Dementia Cortical dysplasia Dilatation EEG abnormality Feeding difficulties in infancy Visual impairment Severe global developmental delay Microphthalmia Elevated serum creatine phosphokinase Dystonia Blindness Increased urinary taurine Molybdenum cofactor deficiency Increased urinary hypoxanthine Xanthinuria Tetraplegia Xanthine nephrolithiasis Optic atrophy Hypouricemia Low-set ears Ptosis Coarse facial features Pachygyria Postnatal microcephaly Decreased liver function Sloping forehead Neonatal hypotonia Spastic tetraplegia Full cheeks Progressive microcephaly Lens luxation Long face Hydrocephalus Axonal loss Epicanthus Thick vermilion border Frontal bossing Peripheral demyelination Myoclonic spasms Nephritis Proximal tubulopathy Food intolerance Brittle hair Hearing impairment Ragged-red muscle fibers Congenital microcephaly Myoglobinuria Emotional lability Abnormality of the coagulation cascade Glycosuria Rhabdomyolysis Tubulointerstitial nephritis Hyperphosphaturia Abnormality of the abdominal wall Severe muscular hypotonia Microvesicular hepatic steatosis Hyperechogenic kidneys Cholangitis Sensory neuropathy Exercise intolerance Lactic acidosis Peripheral neuropathy Depressivity Visual loss Rod-cone dystrophy Acidosis Hypoglycemia Developmental regression Retinopathy Small for gestational age Hepatic failure Aminoaciduria Mitochondrial encephalopathy Metabolic acidosis Sensorineural hearing impairment Increased serum lactate Ataxia Pigmentary retinopathy Cardiomegaly Cholestasis Hallucinations Histiocytoid cardiomyopathy Enlarged cisterna magna Persistent lactic acidosis Cystinuria Microphakia Delayed speech and language development Behavioral abnormality Intellectual disability, mild Hyperactivity Rigidity Abnormality of the nervous system Poor speech Aciduria Abnormality of the genitourinary system Optic nerve hypoplasia Short attention span Episodic vomiting Normochromic anemia Hyperlysinuria Posterior synechiae of the anterior chamber Reduced xanthine dehydrogenase activity Cardiorespiratory arrest Irritability Aldehyde oxidase deficiency Absent urinary urothione Decreased urinary urate Increased urinary thiosulfate Increased urinary sulfite Asthenia Decreased urinary sulfate Sulfite oxidase deficiency Abnormal muscle tone Poor head control Hyperlysinemia Oroticaciduria Facial hypertrichosis Posterior uveitis Decreased mitochondrial complex III activity in liver tissue Retrognathia Postterm pregnancy Cryptorchidism Motor delay Wide nasal bridge Agenesis of corpus callosum Severe short stature Posteriorly rotated ears Osteoporosis Hypogonadism Upslanted palpebral fissure Brachycephaly Glaucoma Narrow mouth Kyphoscoliosis Coloboma Hyperglycinuria Spastic diplegia Anteverted ears Abnormal pupil morphology Retinal coloboma Petechiae External genital hypoplasia Neurodevelopmental delay Overlapping toe Arthrogryposis multiplex congenita Bilateral cryptorchidism Hyperextensible skin Short palpebral fissure Convex nasal ridge Microcornea Joint hypermobility Increased CSF protein Abnormal motor neuron morphology Lissencephaly Stroke-like episode Exotropia Leukoencephalopathy Drooling Ischemic stroke Intracranial hemorrhage Cerebral hemorrhage Visual field defect Limb dystonia Restlessness Posterior embryotoxon Hypoplasia of the iris Transient ischemic attack Facial paralysis Nuclear cataract Porencephalic cyst Mitral valve prolapse Myopathy Distal muscle weakness Hyperlordosis Facial palsy Proximal muscle weakness Respiratory failure Congestive heart failure Gait disturbance Primitive reflex Antenatal intracerebral hemorrhage Spastic hemiparesis Perivascular spaces Schizencephaly Pontocerebellar atrophy Hemianopia Hemiparesis Muscle cramps Limb muscle weakness Depressed nasal bridge Abnormality of the cerebral white matter Protruding ear High forehead Proptosis Absent speech Talipes equinovarus Scoliosis Talipes Progressive spastic quadriplegia Rhizomelia Highly arched eyebrow Smooth philtrum Thin upper lip vermilion Abnormality of the skeletal system Narrow chest Narrow forehead Renal cyst Strabismus Hematuria Hemolytic anemia Stroke Abnormal pyramidal sign Babinski sign Dysarthria Central hypoventilation Hypsarrhythmia Central hypotonia Hypoventilation Multiple joint contractures Plagiocephaly Narrow palate Clonus Muscular dystrophy Distal amyotrophy Purpura Elevated alkaline phosphatase of bone origin Ubiquitin-positive cerebral inclusion bodies Temporal cortical atrophy Pelvic girdle amyotrophy Abnormality of long bone morphology Semantic dementia Scapuloperoneal weakness Frontal cortical atrophy Hepatomegaly Pelvic girdle muscle atrophy Cranial nerve compression Calvarial hyperostosis Motor neuron atrophy Fatty replacement of skeletal muscle Dyscalculia Weakness of muscles of respiration Fever EMG: chronic denervation signs Generalized tonic-clonic seizures Microretrognathia Opacification of the corneal stroma Status epilepticus Intellectual disability, profound Cerebral calcification Abnormality of movement Skin rash Anteverted nares Abnormality of the liver Hepatosplenomegaly Jaundice Thrombocytopenia Renal insufficiency Splenomegaly Abnormality of calvarial morphology Shoulder girdle muscle atrophy Hepatic steatosis Abnormality of pelvic girdle bone morphology Spinal muscular atrophy Language impairment Limb-girdle muscular dystrophy Back pain Increased susceptibility to fractures Elevated alkaline phosphatase Mutism Sensory axonal neuropathy EMG: myopathic abnormalities Scapular winging Osteolysis Fasciculations Lumbar hyperlordosis Waddling gait Increased variability in muscle fiber diameter Alzheimer disease Hip pain Frontotemporal dementia Pelvic girdle muscle weakness Upper motor neuron dysfunction Shoulder girdle muscle weakness Motor axonal neuropathy EMG: neuropathic changes Progressive proximal muscle weakness Urinary bladder sphincter dysfunction Amyotrophic lateral sclerosis Rimmed vacuoles Abnormality of the vertebral column Pathologic fracture Difficulty climbing stairs Generalized amyotrophy Aphasia Diffuse cerebral atrophy



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Macrocephaly and Midface retrusion, related diseases and genetic alterations Edema and Papule, related diseases and genetic alterations Skeletal muscle atrophy and Thin upper lip vermilion, related diseases and genetic alterations Failure to thrive and Omphalocele, related diseases and genetic alterations Micrognathia and Pectus carinatum, related diseases and genetic alterations

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