Cataract, and Hypoglycemia

Diseases related with Cataract and Hypoglycemia

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


Top matches:

Low match CLASSIC GALACTOSEMIA


Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.

CLASSIC GALACTOSEMIA Is also known as galt deficiency|galactose-1-phosphate uridyltransferase deficiency|galactosemia type 1

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Failure to thrive
  • Cataract
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC GALACTOSEMIA

Low match CLOVES SYNDROME


CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.

CLOVES SYNDROME Is also known as cloves syndrome|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome|clove syndrome|congenital lipomatous overgrowth,

Related symptoms:

  • Seizures
  • Scoliosis
  • Nystagmus
  • Cataract
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CLOVES SYNDROME

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Other less relevant matches:

Low match GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY


Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.

GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY Is also known as gsd due to glut2 deficiency|glycogenosis due to glut2 deficiency|gsd type 11|glycogen storage disease type 11|gsd type xi|glycogenosis, fanconi type|fanconi-bickel disease|hepatorenal glycogenosis with renal fanconi syndrome|hepatic glycogenosis with fanc

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY

Low match GLYCOGEN STORAGE DISEASE DUE TO LIVER GLYCOGEN PHOSPHORYLASE DEFICIENCY


Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.

GLYCOGEN STORAGE DISEASE DUE TO LIVER GLYCOGEN PHOSPHORYLASE DEFICIENCY Is also known as liver glycogen phosphorylase deficiency|glycogen storage disease type vi|gsd type 6|glycogen storage disease type 6|gsd type vi|hepatic glycogen phosphorylase deficiency|glycogenosis type 6|gsd due to liver glycogen phosphorylase deficiency|glycogenosis t

Related symptoms:

  • Short stature
  • Hypoglycemia


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LIVER GLYCOGEN PHOSPHORYLASE DEFICIENCY

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 SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY


Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.

SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as scad deficiency|scadh deficiency|acads deficiency|lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency|scadd

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

Low 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

Low match GALACTOSEMIA


Classic galactosemia is an autosomal recessive disorder of galactose metabolism. Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis, and cataract. Long-term complications include mental retardation, verbal dyspraxia, motor abnormalities, and hypergonadotropic hypogonadism (summary by Bosch, 2006).

GALACTOSEMIA Is also known as galactose-1-phosphate uridylyltransferase deficiency|galt deficiency|galactosemia, classic

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GALACTOSEMIA

Top 5 symptoms//phenotypes associated to Cataract and Hypoglycemia

Symptoms // Phenotype % cases
Failure to thrive Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Metabolic acidosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Impairment of galactose metabolism Short stature Vomiting Acidosis Hepatomegaly Ataxia Delayed speech and language development Osteoporosis Dysarthria Feeding difficulties Lethargy

Rare Symptoms - Less than 30% cases


Muscular hypotonia Generalized hypotonia Cognitive impairment Cardiomyopathy Abnormality of metabolism/homeostasis Intellectual disability Galactosuria Albuminuria Hypergalactosemia Encephalopathy Hepatosplenomegaly Renal tubular dysfunction Hepatic steatosis Abdominal distention Aminoaciduria Myopathy Optic atrophy Hyperactivity Ptosis Tremor Gait disturbance Weight loss Jaundice Nausea and vomiting Abnormality of movement Hepatic failure Abnormal bleeding Sepsis Speech apraxia Decreased fertility in females Speech articulation difficulties Scoliosis Nystagmus Abnormality of the ovary Aciduria Feeding difficulties in infancy Constipation Abnormality of the cerebral white matter Cerebral atrophy Unsteady gait Ethylmalonic aciduria Spasticity Confusion Neurodegeneration Hearing impairment Neutropenia Coma Tetraplegia Progressive cerebellar ataxia Urinary incontinence Paraplegia Memory impairment Spastic paraplegia Recurrent infections Dilated cardiomyopathy Motor delay Severe global developmental delay Gastroesophageal reflux Episodic metabolic acidosis Gait ataxia Hyperreflexia Hypoglycemic encephalopathy Dystonia Dementia Visual loss Nonketotic hypoglycemia U-Shaped upper lip vermilion Febrile seizures Testicular dysgenesis Progressive visual loss Nephritis Hemolytic anemia Ascites Anorexia Decreased liver function Hypergonadotropic hypogonadism Hypogonadotrophic hypogonadism Shock Failure to thrive in infancy Abnormality of the voice Premature ovarian insufficiency Abnormality of the coagulation cascade Neurological speech impairment Abnormality of coagulation Edema of the lower limbs Neoplasm of the liver Vitreous hemorrhage Retinal hemorrhage Hyperchloremic metabolic acidosis Food intolerance Increased level of galactitol in plasma Increased level of galactitol in red blood cells Increased level of galactitol in urine Cirrhosis Abnormality of the liver Spastic tetraplegia 3-Methylglutaconic aciduria Choreoathetosis Limb ataxia Paraparesis Spastic paraparesis Spastic tetraparesis Leukoencephalopathy Athetosis Short attention span Skeletal myopathy Abnormality of the basal ganglia Nonprogressive cerebellar ataxia Irritability Organic aciduria Hyperchloremic acidosis Progressive forgetfulness Neoplasm Visual impairment Edema Diarrhea Behavioral abnormality Renal insufficiency Hypogonadism Decreased plasma carnitine Galactose intolerance Progressive external ophthalmoplegia Epididymal cyst Venous malformation Capillary malformation Cranial asymmetry Epidermal nevus Hemimegalencephaly Macrodactyly Encephalomalacia Splayed toes Spinal dysraphism Enlarged peripheral nerve Pelvic mass Fever Obesity Severe short stature Osteopenia Proteinuria Hyperlordosis Cranial hyperostosis Tethered cord Nephropathy Overgrowth Abnormality of the skeletal system Splenomegaly Agenesis of corpus callosum Congenital cataract Facial asymmetry Nevus Renal agenesis Generalized-onset seizure Hemihypertrophy Insulin resistance Horizontal nystagmus Sandal gap Renal hypoplasia/aplasia Partial agenesis of the corpus callosum Lipoatrophy Lipoma Lower limb asymmetry Malabsorption Increased body weight External ophthalmoplegia Flexion contracture Microalbuminuria Generalized aminoaciduria Hypouricemia Mild proteinuria Hyperuricosuria Chronic acidosis Muscle weakness Intrauterine growth retardation Hyperphosphaturia Respiratory distress Hypertonia Congestive heart failure Facial palsy Respiratory tract infection Ophthalmoplegia Decreased fetal movement Psychosis Fasting hypoglycemia Ketonuria Pancreatitis Polyuria Hyperlipidemia Hypercholesterolemia Hypokalemia Elevated alkaline phosphatase Hypercalciuria Polydipsia Rickets Hyperglycemia Bowing of the legs Ketosis Hypophosphatemia Reduced subcutaneous adipose tissue Glycosuria Osteomalacia Hyperuricemia Renal tubular acidosis Poor appetite Protuberant abdomen Increased level of galactonate in red blood cells



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Joint hyperflexibility, related diseases and genetic alterations Skeletal muscle atrophy and Abdominal pain, related diseases and genetic alterations Pain and Azoospermia, related diseases and genetic alterations Breast carcinoma and Genu valgum, related diseases and genetic alterations Nystagmus and Nausea and vomiting, related diseases and genetic alterations

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