Anemia, and Blindness

Diseases related with Anemia and Blindness

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


Top matches:

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

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Other less relevant matches:

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

Low match HEMOPHILIA A; HEMA


Hemophilia A is an X-linked recessive bleeding disorder caused by a deficiency in the activity of coagulation factor VIII. The disorder is clinically heterogeneous with variable severity, depending on the plasma levels of coagulation factor VIII: mild, with levels 6 to 30% of normal; moderate, with levels 2 to 5% of normal; and severe, with levels less than 1% of normal. Patients with mild hemophilia usually bleed excessively only after trauma or surgery, whereas those with severe hemophilia have an annual average of 20 to 30 episodes of spontaneous or excessive bleeding after minor trauma, particularly into joints and muscles. These symptoms differ substantially from those of bleeding disorders due to platelet defects or von Willebrand disease (OMIM ), in which mucosal bleeding predominates (review by Mannucci and Tuddenham, 2001).

HEMOPHILIA A; HEMA Is also known as hemophilia, classic

Related symptoms:

  • Pain
  • Anemia
  • Flexion contracture
  • Peripheral neuropathy
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOPHILIA A; HEMA

Low match OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2


OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2 Is also known as osteopetrosis, osteoclast-poor|osteopetrosis, mild autosomal recessive form

Related symptoms:

  • Seizures
  • Short stature
  • Anemia
  • Visual impairment
  • Optic atrophy


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2

Low match OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5


Autosomal recessive osteopetrosis-5 is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life (Quarello et al., 2004).

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5 Is also known as osteopetrosis, infantile malignant 3

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Failure to thrive
  • Anemia


SOURCES: MESH OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5

Low match SENIOR-LOKEN SYNDROME


Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.

SENIOR-LOKEN SYNDROME Is also known as renal-retinal syndrome|juvenile nephronophthisis with leber amaurosis|loken-senior syndrome|renal dysplasia-retinal aplasia syndrome|nephronophthisis with retinal dystrophy|slsn|renal dysplasia and retinal aplasia|senior-loken syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SENIOR-LOKEN SYNDROME

Low match CINCA SYNDROME


Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Blindness

Symptoms // Phenotype % cases
Visual impairment Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Arthritis Uncommon - Between 30% and 50% cases
Increased bone mineral density Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Blindness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Fatigue Extramedullary hematopoiesis Failure to thrive Thrombocytopenia Hepatosplenomegaly Seizures

Rare Symptoms - Less than 30% cases


Flexion contracture Nausea and vomiting Arthropathy Cerebral visual impairment Proptosis Hepatomegaly Splenomegaly Pain Arthralgia Intellectual disability Generalized hypotonia Microcephaly Nystagmus Nausea Cerebral atrophy Sensorineural hearing impairment Cranial hyperostosis Neutropenia Hemolytic anemia Abnormal facial shape Visual loss Rod-cone dystrophy Photophobia Hydrocephalus Nyctalopia Retinal degeneration Abnormality of skin pigmentation Retinal dystrophy Optic atrophy Exercise intolerance Short stature Lymphadenopathy Growth delay Bone marrow hypocellularity Immunodeficiency Recurrent infections Myalgia Respiratory failure Vomiting Osteopetrosis Weight loss Abnormality of the skeletal system Cataract Hypertension Retinopathy Scarring Renal insufficiency Stage 5 chronic kidney disease Abnormality of the kidney Hypermetropia Ataxia Cognitive impairment Decreased osteoclast count Ventriculomegaly Genu valgum Recurrent fractures Pancytopenia Hypocalcemia Coxa vara Osteomyelitis Facial paralysis Persistence of primary teeth Diaphyseal sclerosis Mandibular osteomyelitis Chronic rhinitis due to narrow nasal airway Hypertonia Absence of renal corticomedullary differentiation Abnormality of metabolism/homeostasis Muscular hypotonia of the trunk Facial palsy Irritability Hepatic failure Brain atrophy Arnold-Chiari malformation Pathologic fracture Severe vision loss Arnold-Chiari type I malformation Generalized osteosclerosis Craniosynostosis Polyuria Nephropathy Urticaria EEG abnormality Skin rash Papule Migraine Premature birth Overgrowth Meningitis Vasculitis Joint dislocation Purpura Increased intracranial pressure Reduced bone mineral density Leukocytosis Edema Elevated erythrocyte sedimentation rate Progressive sensorineural hearing impairment Abnormal joint morphology Amyloidosis Uveitis Juvenile rheumatoid arthritis Abnormal thrombocyte morphology Delayed closure of the anterior fontanelle Elevated C-reactive protein level Inflammatory abnormality of the eye Abnormality of neutrophils Pseudopapilledema Retrobulbar optic neuritis Skeletal dysplasia Frontal bossing Renal cyst Nephronophthisis Progressive visual loss Involuntary movements Renal dysplasia Abnormality of retinal pigmentation Hepatic fibrosis Incoordination Chronic kidney disease Polydipsia Premature ovarian insufficiency Nephritis Cone-shaped epiphysis Diabetes insipidus High hypermetropia Macrocephaly Congenital blindness Severe sensorineural hearing impairment Peripheral visual field loss Tubulointerstitial nephritis Retinal dysplasia Congenital hepatic fibrosis Tapetoretinal degeneration Abnormality of bone mineral density Azotemia Multiple small medullary renal cysts Exudative retinopathy Brachydactyly Fever Carious teeth Intracranial hemorrhage Mandibular prognathia Decreased nerve conduction velocity Protein-losing enteropathy Folliculitis Erythroid dysplasia Muscular hypotonia Gait disturbance Respiratory insufficiency Cerebral cortical atrophy Lethargy Aciduria Intellectual disability, progressive Megaloblastic anemia Severe intrauterine growth retardation Reduced consciousness/confusion Methylmalonic aciduria Homocystinuria Decreased methylcobalamin Hyperhomocystinemia Decreased methionine synthase activity Hypomethioninemia Hypoplasia of the corpus callosum Pneumonia Abnormality of the nervous system Autistic behavior Osteosarcoma Atopic dermatitis Recurrent bacterial infections Postnatal growth retardation Reduced visual acuity Pallor Optic disc pallor Constriction of peripheral visual field Macular atrophy Chorioretinal degeneration Intrauterine growth retardation Diarrhea Glaucoma Hypothyroidism Respiratory tract infection Autoimmune hemolytic anemia Dry skin Ichthyosis Eczema Inflammatory abnormality of the skin Abnormal lung morphology Bronchiectasis Lymphopenia Abnormal intestine morphology Recurrent skin infections Myelodysplasia Erythroderma Increased body weight Leukopenia Abnormality of the dentition Abnormality of the elbow Reduced erythrocyte 2,3-diphosphoglycerate concentration Peripheral neuropathy Stroke Muscular dystrophy Bruising susceptibility Hematuria Gastrointestinal hemorrhage Osteoarthritis Thromboembolism Joint swelling Dyschromatopsia Exercise-induced myoglobinuria Prolonged partial thromboplastin time Stomatitis Joint hemorrhage Spontaneous hematomas Reduced factor VIII activity Intraventricular hemorrhage Persistent bleeding after trauma Intramuscular hematoma Oral cavity bleeding Bleeding with minor or no trauma Splenic rupture Increased muscle glycogen content Exercise-induced muscle cramps Increased antibody level in blood Jaundice Enlarged kidney Anisocytosis Poikilocytosis Giant platelets Congenital neutropenia Myelofibrosis Muscle weakness Cardiomyopathy Myopathy Elevated serum creatine phosphokinase Corneal opacity Gastric ulcer Limb muscle weakness Muscle cramps Easy fatigability Cholelithiasis Polycythemia Reticulocytosis Myoglobinuria Gout Nonspherocytic hemolytic anemia Dark urine Increased total bilirubin Abnormal granulocyte morphology



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