Anemia, and Reduced visual acuity

Diseases related with Anemia and Reduced visual acuity

In the following list you will find some of the most common rare diseases related to Anemia and Reduced visual acuity that can help you solving undiagnosed cases.


Top matches:

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

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 BLOOD GROUP, MN; MN


MN antigens reside on GYPA, one of the most abundant red-cell glycoproteins. The M and N antigens are 2 autosomal codominant antigens encoded by the first 5 amino acids of GYPA and include 3 O-linked glycans as part of the epitope. M and N differ at amino acids 1 and 5, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. M is the ancestral GYPA allele and is common in all human populations and Old World apes. GYPA, glycophorin B (GYPB ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. 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. Antigens of the Ss blood group (OMIM ) reside on GYPB, and 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 or MNS blood group system. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. 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, MN; MN Is also known as mn blood group

Related symptoms:

  • Neoplasm
  • Anemia
  • Leukemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, MN; MN

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Other less relevant matches:

Low match SENIOR-LOKEN SYNDROME 4; SLSN4


Related symptoms:

  • Anemia
  • Rod-cone dystrophy
  • Stage 5 chronic kidney disease
  • Amblyopia
  • Polydipsia


SOURCES: MESH OMIM MENDELIAN

More info about SENIOR-LOKEN SYNDROME 4; SLSN4

Low match RETINITIS PIGMENTOSA 79; RP79


Related symptoms:

  • Cognitive impairment
  • Anemia
  • Blindness
  • Visual loss
  • Rod-cone dystrophy


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 79; RP79

Low match COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY


Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

Low match METHYLCOBALAMIN DEFICIENCY TYPE CBLE


Homocystinuria and megaloblastic anemia is an autosomal recessive inborn error of metabolism resulting from defects in the cobalamin (vitamin B12)-dependent pathway that converts homocysteine to methionine, which is catalyzed by methionine synthase (MTR ). Clinical features are somewhat variable, but include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia, all of which respond to cobalamin supplementation. Methylmalonic aciduria is not present. Two complementation groups have been described based on fibroblast studies: CblE and CblG (OMIM ) (Watkins and Rosenblatt, 1988). Cells from patients with CblE fail to incorporate methyltetrahydrofolate into methionine in whole cells, but cell extracts show normal methionine synthase activity in the presence of a reducing agent. Cells from patients with CblG have defects in the methionine synthase enzyme under both conditions (summary by Leclerc et al., 1996).CblG is caused by mutation in the MTR gene.

METHYLCOBALAMIN DEFICIENCY TYPE CBLE Is also known as functional methionine synthase deficiency type cble|homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cble complementation type|methylcobalamin deficiency, cble type|vitamin b12-responsive homocystinuria, cble type

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about METHYLCOBALAMIN DEFICIENCY TYPE CBLE

Low match PITUITARY APOPLEXY


The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA.

Related symptoms:

  • Ptosis
  • Hypertension
  • Fever
  • Fatigue
  • Headache


SOURCES: MESH ORPHANET MENDELIAN

More info about PITUITARY APOPLEXY

Low match CONGENITAL NEUTROPENIA-MYELOFIBROSIS-NEPHROMEGALY SYNDROME


Congenital neutropenia-myelofibrosis-nephromegaly syndrome is rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythima on EEG).

CONGENITAL NEUTROPENIA-MYELOFIBROSIS-NEPHROMEGALY SYNDROME Is also known as vps45 deficiency|congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL NEUTROPENIA-MYELOFIBROSIS-NEPHROMEGALY SYNDROME

Low match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM


Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM Is also known as gsd due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogenosis type iv, fatal perinatal neuromuscular form|tarui disease|glycogenosis type 4, fatal perinatal neuromuscular form|gsd vii|gbe deficiency, fatal perinatal neur

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM

Top 5 symptoms//phenotypes associated to Anemia and Reduced visual acuity

Symptoms // Phenotype % cases
Blindness Uncommon - Between 30% and 50% cases
Neoplasm Rare - less than 30% cases
Respiratory failure Rare - less than 30% cases
Cerebral visual impairment Rare - less than 30% cases
Exercise intolerance Rare - less than 30% cases
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Other less frequent symptoms

Patients with Anemia and Reduced visual acuity. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Failure to thrive Hemolytic anemia Pallor Photophobia Immunodeficiency Neutropenia Global developmental delay Seizures Rod-cone dystrophy Nausea and vomiting Recurrent infections Fatigue Thrombocytopenia Hepatomegaly Hearing impairment Splenomegaly Hypoplasia of the corpus callosum Abnormal caudate nucleus morphology Pneumonia Thunderclap headache Abnormality of the nervous system Abnormal kinetic perimetry test Abnormal static automated perimetry test Galactorrhea Bitemporal hemianopia Prolactin excess Hyponatremia Impotence Blurred vision Hypopituitarism Growth hormone excess Increased circulating cortisol level Oligomenorrhea Pituitary adenoma Trigeminal neuralgia Excessive daytime somnolence Pituitary hypothyroidism Adrenocorticotropic hormone deficiency Central diabetes insipidus Normochromic anemia Abnormality of the cerebrospinal fluid Mydriasis Prolactin deficiency Autistic behavior Enlarged kidney Increased bone mineral density Myoglobinuria Limb muscle weakness Nausea Muscle cramps Easy fatigability Cholelithiasis Polycythemia Reticulocytosis Gout Arthritis Nonspherocytic hemolytic anemia Dark urine Increased total bilirubin Gastric ulcer Exercise-induced muscle cramps Exercise-induced myoglobinuria Increased muscle glycogen content Corneal opacity Myalgia Increased body weight Giant platelets Recurrent bacterial infections Leukopenia Increased antibody level in blood Hypergonadotropic hypogonadism Anisocytosis Poikilocytosis Extramedullary hematopoiesis Congenital neutropenia Jaundice Myelofibrosis Muscle weakness Pain Flexion contracture Cardiomyopathy Myopathy Vomiting Elevated serum creatine phosphokinase Cranial nerve paralysis Fever Diplopia Postnatal growth retardation Growth delay Abnormal facial shape Intrauterine growth retardation Diarrhea Glaucoma Hypothyroidism Respiratory tract infection Macular atrophy Dry skin Ichthyosis Lymphadenopathy Eczema Inflammatory abnormality of the skin Abnormal lung morphology Bronchiectasis Chorioretinal degeneration Constriction of peripheral visual field Abnormal intestine morphology Nephronophthisis Hyperpigmentation of the skin Leukemia Stage 5 chronic kidney disease Amblyopia Polydipsia Polyuria Severe vision loss Optic disc pallor Rotary nystagmus Cognitive impairment Visual loss Nyctalopia Retinal degeneration Abnormality of skin pigmentation Retinal dystrophy Lymphopenia Recurrent skin infections Hypotension Decreased methionine synthase activity Megaloblastic anemia Reduced consciousness/confusion Methylmalonic aciduria Homocystinuria Decreased methylcobalamin Hyperhomocystinemia Hypomethioninemia Intellectual disability, progressive Ptosis Hypertension Headache Hypoglycemia Confusion Coma Growth hormone deficiency Decreased nerve conduction velocity Aciduria Myelodysplasia Erythroid dysplasia Erythroderma Autoimmune hemolytic anemia Atopic dermatitis Severe intrauterine growth retardation Osteosarcoma Protein-losing enteropathy Folliculitis Generalized hypotonia Lethargy Microcephaly Nystagmus Muscular hypotonia Gait disturbance Respiratory insufficiency Cerebral atrophy Cerebral cortical atrophy Reduced erythrocyte 2,3-diphosphoglycerate concentration



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