Cataract, and Hemolytic anemia

Diseases related with Cataract and Hemolytic anemia

In the following list you will find some of the most common rare diseases related to Cataract and Hemolytic anemia 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 BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

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Other less relevant matches:

Low match HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN


Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.

HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN Is also known as cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|sdchc|stomatin-deficient cryohydrocytosis|chc type 2|glut1 deficiency syndrome with pseudohyperkalemia an

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN

Low 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

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 DIAMOND-BLACKFAN ANEMIA 17; DBA17


Related symptoms:

  • Anemia
  • Hyperpigmentation of the skin


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 17; DBA17

Low match TN POLYAGGLUTINATION SYNDROME; TNPS


Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000).Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1 ), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008).

TN POLYAGGLUTINATION SYNDROME; TNPS Is also known as galactosyltransferase deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Autoimmunity
  • Leukemia
  • Hemolytic anemia


SOURCES: MESH OMIM MENDELIAN

More info about TN POLYAGGLUTINATION SYNDROME; TNPS

Low match L-FERRITIN DEFICIENCY


Related symptoms:

  • Seizures
  • Cataract
  • Anemia
  • Alopecia
  • Generalized-onset seizure


SOURCES: ORPHANET OMIM MENDELIAN

More info about L-FERRITIN DEFICIENCY

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 Hemolytic anemia

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Hydrocephalus

Rare Symptoms - Less than 30% cases


Weight loss Abnormality of metabolism/homeostasis Anorexia Cognitive impairment Metabolic acidosis Lethargy Hematuria Feeding difficulties in infancy Hemiplegia Renal insufficiency Generalized hypotonia Tremor Thrombocytopenia Feeding difficulties Muscular hypotonia Failure to thrive Growth delay Visual impairment Dysarthria Hepatomegaly Hepatosplenomegaly Hypertonia Macrotia Neoplasm Nystagmus Spasticity Jaundice Dementia Cerebral cortical atrophy Gait ataxia Speech articulation difficulties Reduced visual acuity Acidosis Hyperpigmentation of the skin Galactosuria Congestive heart failure High forehead Food intolerance Albuminuria Difficulty walking Arthritis Proteinuria Mental deterioration Depressivity Intellectual disability, severe Impairment of galactose metabolism Hip dislocation Leukemia Leukopenia Abnormal erythrocyte morphology Increased level of galactonate in red blood cells Alopecia Increased level of galactitol in urine Generalized-onset seizure Increased level of galactitol in red blood cells Iron deficiency anemia Autoimmunity Increased serum ferritin Restless legs Hearing impairment Muscle weakness Abnormal facial shape Low-set ears Hypertension Respiratory insufficiency Increased level of galactitol in plasma Retinopathy Joint hypermobility Congenital cataract Abnormality of macular pigmentation Megaloblastic anemia Cor pulmonale Methylmalonic aciduria Homocystinuria Myelopathy Gastritis Right ventricular failure Hemolytic-uremic syndrome Atrophy of the spinal cord Methylmalonic acidemia Chronic hemolytic anemia Delirium Disproportionate tall stature Urogenital fistula Decreased methylcobalamin Hyperhomocystinemia Decreased adenosylcobalamin Decreased methionine synthase activity Vitamin B12 deficiency Cystathioninuria Hypomethioninemia Decreased methylmalonyl-CoA mutase activity Diffuse hepatic steatosis Cystathioninemia Thromboembolism Apathy Malabsorption Neutropenia Lower limb muscle weakness Smooth philtrum Confusion Unsteady gait Paresthesia Retinal degeneration Abnormality of skin pigmentation Long face Hypergalactosemia Nephropathy Hepatic steatosis Urinary incontinence Ectopia lentis Aciduria Memory impairment Pigmentary retinopathy Abnormality of extrapyramidal motor function Pancytopenia Psychosis Pulmonary arterial hypertension Broad-based gait Recurrent urinary tract infections Abnormality of retinal pigmentation Atherosclerosis Slurred speech Hyperchloremic metabolic acidosis Hypergonadotropic hypogonadism Retinal hemorrhage Exotropia Cerebellar hypoplasia Abnormal pyramidal sign Stroke Polymicrogyria Renal cyst Muscle cramps Mitral valve prolapse Tetraparesis Hemiparesis Leukoencephalopathy Elevated serum creatine phosphokinase Cerebral palsy Drooling Ischemic stroke Intracranial hemorrhage Cerebral hemorrhage Dysphasia Cortical dysplasia Opisthotonus Visual field defect Limb dystonia Babinski sign Dilatation Posterior embryotoxon Delayed myelination Short stature Hyperreflexia Brachydactyly Macrocephaly Splenomegaly Absent speech Spastic paraplegia Paraplegia Inability to walk Hyperbilirubinemia Dystonia Hyperkalemia Broad neck Conjugated hyperbilirubinemia Stomatocytosis Hemoglobinuria Zonular cataract Hypoglycorrhachia Strabismus Ventriculomegaly Cerebellar atrophy Restlessness Hypoplasia of the iris Decreased fertility in females Failure to thrive in infancy Hepatic failure Ascites Abdominal distention Sepsis Abnormal bleeding Decreased liver function Hypogonadotrophic hypogonadism Aminoaciduria Shock Abnormality of the voice Nausea and vomiting Premature ovarian insufficiency Nephritis Abnormality of the coagulation cascade Abnormality of coagulation Renal tubular dysfunction Edema of the lower limbs Neoplasm of the liver Speech apraxia Abnormality of the ovary Vitreous hemorrhage Cirrhosis Neurological speech impairment Transient ischemic attack Spastic hemiparesis Facial paralysis Nuclear cataract Stroke-like episode Porencephalic cyst Primitive reflex Hemianopia Pontocerebellar atrophy Schizencephaly Perivascular spaces Antenatal intracerebral hemorrhage Abnormality of the liver Delayed speech and language development Gait disturbance Edema Vomiting Diarrhea Behavioral abnormality Osteoporosis Hypogonadism Hypoglycemia Irritability Thyroglossal cyst



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