Cataract, and Aciduria

Diseases related with Cataract and Aciduria

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


Top matches:

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 BETA-AMINOISOBUTYRIC ACIDURIA; BAIBA


Beta-aminoisobutyric acid (BAIB) is a product of pyrimidine catabolism. Excretion of BAIB in urine is a benign 'metabolic polymorphism' present in many human populations (Scriver and Perry, 1989).

BETA-AMINOISOBUTYRIC ACIDURIA; BAIBA Is also known as hyper-beta-aminoisobutyric aciduria|beta-aminoisobutyric acid, urinary excretion of|baib urinary excretion

Related symptoms:

  • Aminoaciduria


SOURCES: MESH OMIM MENDELIAN

More info about BETA-AMINOISOBUTYRIC ACIDURIA; BAIBA

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Other less relevant matches:

Low match HYPERGLYCINURIA


The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG ), a benign inborn error of amino acid transport, is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG) (summary by Broer et al., 2008).A phenotype of combined glucosuria and glycinuria has been described (see {138070}).

HYPERGLYCINURIA Is also known as glycinuria with or without oxalate nephrolithiasis|glycinuria with or without oxalate urolithiasis|iminoglycinuria type ii

Related symptoms:

  • Seizures
  • Cataract
  • Hypertension
  • Microphthalmia
  • Tachycardia


SOURCES: OMIM MESH MENDELIAN

More info about HYPERGLYCINURIA

Low match GYRATE ATROPHY OF CHOROID AND RETINA


Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract.

GYRATE ATROPHY OF CHOROID AND RETINA Is also known as ornithine-delta-aminotransferase deficiency|hoga|hyperornithinemia-gyrate atrophy of choroid and retina syndrome|gyrate atrophy|oat deficiency|ornithine aminotransferase deficiency|hyperornithinemia|ornithine keto acid aminotransferase deficiency|okt defi

Related symptoms:

  • Intellectual disability
  • Cataract
  • Delayed speech and language development
  • Myopia
  • Blindness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about GYRATE ATROPHY OF CHOROID AND RETINA

Low match GALACTOSE EPIMERASE DEFICIENCY


Epimerase-deficiency galactosemia was originally described as a benign condition in which GALE impairment is restricted to circulating red and white blood cells (Gitzelmann, 1972). Fibroblasts, liver, phytohemagglutinin-stimulated leukocyes, and Epstein Barr virus-transformed lymphoblasts from these patients all demonstrated normal or near-normal levels of GALE, leading to the designation 'peripheral' (or 'isolated') epimerase deficiency. A second form of epimerase deficiency became apparent in which a patient, despite normal GALT activity, presented with symptoms reminiscent of classic galactosemia and demonstrated severely impaired GALE activity in both red blood cells and fibroblasts (Holton et al., 1981). This form was designated 'generalized' epimerase deficiency. Openo et al. (2006) demonstrated that epimerase deficiency is in fact not a binary condition but is, rather, a continuum disorder.GALE encodes the third enzyme in the Leloir pathway of galactose metabolism. Galactosemia I is classic galactosemia (OMIM ), caused by deficiency of the second enzyme in the Leloir pathway, galactose-1-phosphate uridylyl-transferase (GALT ). Galactosemia II (OMIM ) is caused by deficiency of the first enzyme in the Leloir pathway, galactokinase (GALK ).

GALACTOSE EPIMERASE DEFICIENCY Is also known as udp-galactose-4-epimerase deficiency|gale deficiency|galactosemia iii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GALACTOSE EPIMERASE DEFICIENCY

Low match ISOLATED ECTOPIA LENTIS


Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.

ISOLATED ECTOPIA LENTIS Is also known as ectopia lentis syndrome|familial ectopia lentis

Related symptoms:

  • Scoliosis
  • Nystagmus
  • Cataract
  • Cognitive impairment
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED ECTOPIA LENTIS

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 FAMILIAL SPONTANEOUS PNEUMOTHORAX


Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.

FAMILIAL SPONTANEOUS PNEUMOTHORAX Is also known as psp

Related symptoms:

  • Neoplasm
  • Pain
  • Respiratory distress
  • Chest pain
  • Abnormal lung morphology


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL SPONTANEOUS PNEUMOTHORAX

Top 5 symptoms//phenotypes associated to Cataract and Aciduria

Symptoms // Phenotype % cases
Aminoaciduria Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Delayed speech and language development Rare - less than 30% cases
Homocystinuria Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Abnormality of metabolism/homeostasis Microcephaly Delayed myelination Feeding difficulties Muscular hypotonia Generalized hypotonia Ectopia lentis Intellectual disability Seizures Microphthalmia Nephrolithiasis Abnormality of the cerebral white matter Abnormal facial shape Hypertelorism Calcinosis Poor head control Nephrocalcinosis Renal hypoplasia Abnormality of the pleura Inability to walk Congenital cataract Gastroesophageal reflux Hydronephrosis Pneumothorax Hyporeflexia Absent speech Dysphagia Optic atrophy Spasticity Spontaneous pneumothorax Myopic astigmatism Posterior synechiae of the anterior chamber Iris atrophy High palate Abnormality of the respiratory system Chest pain Lactic acidosis Respiratory distress Pain Neoplasm Adducted thumb Tented upper lip vermilion Infantile muscular hypotonia Postnatal microcephaly Underdeveloped nasal alae Metabolic acidosis Bulbous nose Hepatic failure Sparse hair Depressed nasal bridge High forehead Acidosis Long philtrum Short nose Dystonia Hypoplasia of the corpus callosum Abnormal pupil morphology Abnormal lung morphology Emphysema Frontal bossing Downslanted palpebral fissures Epicanthus Anteverted nares Joint stiffness Ectopia pupillae Nyctalopia Hyperlysinuria Chorioretinal degeneration Muscle fiber atrophy Posterior subcapsular cataract Retinal atrophy Subcapsular cataract Chorioretinal atrophy Glucose intolerance Hyperammonemia EMG abnormality Retinal degeneration Abnormality of the eye Hyperornithinemia Proximal muscle weakness EEG abnormality Visual loss Intellectual disability, mild Blindness Myopia Paroxysmal tachycardia Calcium oxalate nephrolithiasis Hyperglycinuria Glycosuria Syncope Tachycardia Ornithinuria Hearing impairment Uveitis Scoliosis Amblyopia Joint hypermobility Arachnodactyly Astigmatism Mandibular prognathia Reduced visual acuity Abnormal heart morphology Malar flattening Visual impairment Cognitive impairment Nystagmus Impairment of galactose metabolism Growth delay Galactosuria Hypergalactosemia Delayed gross motor development Nausea and vomiting Jaundice Weight loss Splenomegaly Vomiting Intellectual disability, severe Hepatomegaly Sensorineural hearing impairment Failure to thrive Fibrofolliculoma



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