Cataract, and Metabolic acidosis

Diseases related with Cataract and Metabolic acidosis

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


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Low match DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY


Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

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 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

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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

Low match COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1


Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 DeficiencySee also COQ10D2 (OMIM ), caused by mutation in the PDSS1 gene (OMIM ) on chromosome 10p12; COQ10D3 (OMIM ), caused by mutation in the PDSS2 gene (OMIM ) on chromosome 6q21; COQ10D4 (OMIM ), caused by mutation in the COQ8 gene (ADCK3 ) on chromosome 1q42; COQ10D5 (OMIM ), caused by mutation in the COQ9 gene (OMIM ) on chromosome 16q21; COQ10D6 (OMIM ), caused by mutation in the COQ6 gene (OMIM ) on chromosome 14q24; COQ10D7 (OMIM ), caused by mutation in the COQ4 gene (OMIM ) on chromosome 9q34; and COQ10D8 (OMIM ), caused by mutation in the COQ7 gene (OMIM ) on chromosome 16p13.Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD ), caused by mutation in the ETFDH gene (OMIM ) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1 ), caused by mutation in the APTX gene (OMIM ) on chromosome 9p13.

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 Is also known as ubiquinone deficiency 1|coq10 deficiency, primary, 1|coq deficiency 1|coenzyme q deficiency 1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

Low match MEVALONIC ACIDURIA


Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Low 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

Low match CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM


The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

Low match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Top 5 symptoms//phenotypes associated to Cataract and Metabolic acidosis

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Acidosis Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Aciduria

Common Symptoms - More than 50% cases


Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Hypoglycemia

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties

Common Symptoms - More than 50% cases


Ataxia

Uncommon Symptoms - Between 30% and 50% cases


Hepatic failure Cardiomyopathy Hepatomegaly Intellectual disability Vomiting Feeding difficulties in infancy Nystagmus Lethargy Optic atrophy Hepatic steatosis Muscle weakness Hearing impairment Renal insufficiency Cerebral atrophy Short stature Cognitive impairment Hyperreflexia Encephalopathy Abnormal facial shape Lactic acidosis Elevated serum creatine phosphokinase Visual loss Memory impairment Progressive cerebellar ataxia Coma Dementia Spasticity Dysarthria High forehead Elevated hepatic transaminase Delayed speech and language development Respiratory distress Myopathy Congestive heart failure Aminoaciduria Low-set ears Nephropathy Malabsorption Anemia Cerebellar atrophy Hepatosplenomegaly Proteinuria

Rare Symptoms - Less than 30% cases


Ragged-red muscle fibers Retinopathy Posteriorly rotated ears Motor delay Cerebral cortical atrophy Exercise intolerance Fatigue Depressivity Nonketotic hypoglycemia Congenital cataract Sensorineural hearing impairment Pigmentary retinopathy Organic aciduria Psychosis Pancytopenia Abnormality of the cerebral white matter Cardiomegaly Muscular hypotonia of the trunk Hypertrophic cardiomyopathy Respiratory insufficiency Respiratory failure Thrombocytopenia Dilated cardiomyopathy Food intolerance Diarrhea Failure to thrive in infancy Hypergonadotropic hypogonadism Decreased liver function Anorexia Hemolytic anemia Abnormality of the liver Weight loss Hypogonadism Myoglobinuria Edema Gait ataxia Gait disturbance Tremor Visual impairment Rod-cone dystrophy Spastic tetraparesis Abnormality of the coagulation cascade Urinary incontinence Neutropenia Confusion Unsteady gait Nephritis Skeletal muscle atrophy Abdominal distention High palate Obesity Downslanted palpebral fissures Osteoporosis Renal tubular dysfunction Hypergalactosemia Epicanthus Albuminuria Galactosuria Impairment of galactose metabolism Dystonia Hyperphosphaturia Glycosuria Fever Bulbous nose Delayed myelination Hypertonia Scoliosis Flexion contracture Underdeveloped nasal alae Hyperactivity Postterm pregnancy Histiocytoid cardiomyopathy Mitochondrial encephalopathy Decreased mitochondrial complex III activity in liver tissue Abnormality of the abdominal wall Microvesicular hepatic steatosis Ventriculomegaly Hyperechogenic kidneys Hypertelorism Persistent lactic acidosis Neonatal hypotonia Arrhythmia Oligohydramnios Ventricular arrhythmia Hyperammonemia Narrow palate Knee flexion contracture Multicystic kidney dysplasia Elbow flexion contracture Renal dysplasia Sloping forehead Agenesis of corpus callosum Wide intermamillary distance Tapered finger Polymicrogyria Abnormality of the foot Apnea Hydronephrosis Cholangitis Prominent forehead Proximal tubulopathy Facial palsy Tubulointerstitial nephritis Normocytic anemia Fluctuating hepatomegaly Morbilliform rash Chronic leukemia Therapeutic abortion Glutathione synthetase deficiency Hypoplastic anemia Extramedullary hematopoiesis Normocytic hypoplastic anemia Agenesis of cerebellar vermis Cholestatic liver disease Nuclear cataract Severe failure to thrive Petechiae Leukocytosis Large fontanelles Fluctuating splenomegaly Peripheral neuropathy Rhabdomyolysis Tetraparesis Emotional lability Brittle hair Severe muscular hypotonia Hallucinations Polycystic kidney dysplasia Hypertrichosis Depressed nasal bridge Blindness Increased serum lactate Sensory neuropathy Small for gestational age Developmental regression EEG abnormality Coarse facial features Frontal bossing Cholestasis Heart block Overfolded helix Hemiplegia Methylmalonic aciduria Cor pulmonale Megaloblastic anemia Thromboembolism Disproportionate tall stature Apathy Ectopia lentis Slurred speech Myelopathy Atherosclerosis Abnormality of retinal pigmentation Recurrent urinary tract infections Broad-based gait Pulmonary arterial hypertension Abnormality of extrapyramidal motor function Hematuria Homocystinuria Gastritis Long face Decreased adenosylcobalamin Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Hyperhomocystinemia Right ventricular failure Decreased methylcobalamin Urogenital fistula Delirium Abnormality of macular pigmentation Chronic hemolytic anemia Methylmalonic acidemia Atrophy of the spinal cord Hemolytic-uremic syndrome Joint hypermobility Abnormality of skin pigmentation Hypoplastic toenails Long toe Elevated long chain fatty acids Increased muscle lipid content Macrovesicular hepatic steatosis Increased total bilirubin Dicarboxylic aciduria Biventricular hypertrophy Abnormality of nervous system morphology Ureteral duplication Hepatic calcification Cystic renal dysplasia Hypoketotic hypoglycemia Hypothermia Blue sclerae Enlarged kidney Hyperkalemia Cerebral hemorrhage Basal ganglia cysts Decreased plasma free carnitine Retinal degeneration Macrotia Paresthesia Smooth philtrum Lower limb muscle weakness Hip dislocation Mental deterioration Arthritis Difficulty walking Reduced visual acuity Tapered toe Intellectual disability, severe Hydrocephalus Hypertension Long-chain dicarboxylic aciduria Elevated serum long-chain fatty acids Decreased plasma total carnitine Antenatal intracerebral hemorrhage Intracerebral periventricular calcifications Clumsiness Anteverted nares Nevus 3-Methylglutaconic aciduria Reduced subcutaneous adipose tissue Neoplasm Progressive forgetfulness Hyperchloremic acidosis Testicular dysgenesis Nonprogressive cerebellar ataxia Abnormality of the basal ganglia Bowing of the legs Skeletal myopathy Short attention span Athetosis Leukoencephalopathy Osteomalacia Spastic paraparesis Paraparesis Hypophosphatemia Polyuria Choreoathetosis Neurological speech impairment Abnormal bleeding Sepsis Ascites Hypokalemia Cirrhosis Nausea and vomiting Elevated alkaline phosphatase Hyperglycemia Irritability Jaundice Hypercalciuria Polydipsia Abnormality of metabolism/homeostasis Rickets Behavioral abnormality Limb ataxia Spastic tetraplegia Hyperlipidemia U-Shaped upper lip vermilion Hyperuricosuria Galactose intolerance Chronic acidosis Hypoglycemic encephalopathy Ethylmalonic aciduria Episodic metabolic acidosis Decreased plasma carnitine Hypouricemia Ptosis Progressive external ophthalmoplegia External ophthalmoplegia Decreased fetal movement Ophthalmoplegia Intrauterine growth retardation Respiratory tract infection Mild proteinuria Recurrent infections Progressive visual loss Neurodegeneration Hyperuricemia Febrile seizures Renal tubular acidosis Poor appetite Tetraplegia Protuberant abdomen Ketosis Ketonuria Generalized aminoaciduria Paraplegia Abnormality of movement Spastic paraplegia Severe global developmental delay Gastroesophageal reflux Fasting hypoglycemia Microalbuminuria Hypercholesterolemia Pancreatitis Triangular face Generalized amyotrophy Glutaric aciduria Steroid-resistant nephrotic syndrome Scanning speech Tubular atrophy Microphthalmia Glomerulopathy Focal segmental glomerulosclerosis Exercise-induced myoglobinuria Ophthalmoparesis Glomerulonephritis Glomerulosclerosis Hyperextensible skin Sparse hair Oculomotor apraxia Progressive muscle weakness Recurrent myoglobinuria Rapid neurologic deterioration Status epilepticus Arthralgia Retinal dystrophy Lymphadenopathy Dolichocephaly Leukemia Skin rash Low-set, posteriorly rotated ears Abnormality of the nervous system Kyphoscoliosis Crescentic glomerulonephritis Hypoplasia of the corpus callosum Abdominal pain Delayed skeletal maturation Short nose Splenomegaly Long philtrum Pain Progressive neurologic deterioration Apraxia Hypogonadotrophic hypogonadism Speech apraxia Osteopenia Hyperchloremic metabolic acidosis Retinal hemorrhage Decreased fertility in females Vitreous hemorrhage Abnormality of the ovary Neoplasm of the liver Increased level of galactitol in plasma Edema of the lower limbs Abnormality of coagulation Hyperlordosis Premature ovarian insufficiency Abnormality of the voice Increased body weight Shock Speech articulation difficulties Increased level of galactitol in red blood cells Nephrotic syndrome Postnatal microcephaly Bilateral sensorineural hearing impairment Specific learning disability Muscle cramps Postural instability Joint hyperflexibility Stroke Abnormal pyramidal sign Infantile muscular hypotonia Increased level of galactitol in urine Myoclonus Tented upper lip vermilion Adducted thumb Intellectual disability, mild Constipation Severe short stature Increased level of galactonate in red blood cells Thyroglossal cyst



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