Anemia, and Optic disc pallor

Diseases related with Anemia and Optic disc pallor

In the following list you will find some of the most common rare diseases related to Anemia and Optic disc pallor 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 RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Anemia


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8


Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by Dallabona et al., 2016).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8

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Other less relevant matches:

Low match TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY


Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY

Low match VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0


Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Muscular hypotonia
  • Anemia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

Low match ISOLATED COMPLEX I DEFICIENCY


Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

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 DILATED CARDIOMYOPATHY WITH ATAXIA


Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

DILATED CARDIOMYOPATHY WITH ATAXIA Is also known as mga5|dcma|3-methylglutaconic aciduria type 5|cardiomyopathy, dilated, with ataxia|mga, type v|dcma syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DILATED CARDIOMYOPATHY WITH ATAXIA

Low match VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-


Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-coa mutase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

Low match HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2


Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG ) and TNF-alpha (OMIM ), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by Dufourcq-Lagelouse et al., 1999, Stepp et al., 1999, and Molleran Lee et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of FHL, see {267700}.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2 Is also known as hplh2|hlh2

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2

Top 5 symptoms//phenotypes associated to Anemia and Optic disc pallor

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Dystonia Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Optic disc pallor. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Pallor Generalized hypotonia Cardiomyopathy Muscle weakness Lethargy Respiratory distress Optic atrophy Hepatomegaly Muscular hypotonia Coma Congestive heart failure Respiratory failure Edema Splenomegaly Spasticity Hyperreflexia Pancreatitis Irritability Thrombocytopenia Renal insufficiency Growth delay

Rare Symptoms - Less than 30% cases


Vomiting Increased serum lactate Lactic acidosis Leukoencephalopathy Intrauterine growth retardation Babinski sign Motor delay Abnormal pyramidal sign Nausea and vomiting Neutropenia Choreoathetosis Hyperammonemia Dyskinesia Limb muscle weakness Hypertrophic cardiomyopathy Peripheral neuropathy Jaundice Hyporeflexia Areflexia Myopathy Fatigue Feeding difficulties Skeletal muscle atrophy Acidosis Developmental regression Stroke Dysarthria Hypoglycemia Hepatic steatosis Abnormality of skin pigmentation Nystagmus Nyctalopia Hearing impairment Exercise intolerance Gait disturbance Abnormality of movement Encephalopathy Blindness Hypertonia Cerebral atrophy Fever Left ventricular hypertrophy Wide anterior fontanel Stiff neck Decreased activity of mitochondrial respiratory chain Acute pancreatitis Biventricular hypertrophy Ventricular hypertrophy Axial dystonia Severe lactic acidosis Coarctation of aorta Cardiomegaly Congenital diaphragmatic hernia Pigmentary retinopathy Cyanosis Infantile encephalopathy Cerebral edema Basal ganglia calcification Leukodystrophy Progressive spasticity Cardiogenic shock Renal tubular acidosis Weak cry Optic neuropathy Progressive encephalopathy Mitochondrial myopathy Cardiorespiratory arrest Poor eye contact Aspiration pneumonia Nemaline bodies Increased CSF lactate Aspiration Pericardial effusion Global brain atrophy Adrenal insufficiency Oral-pharyngeal dysphagia Incoordination Ragged-red muscle fibers Shock Horizontal nystagmus Cardiac arrest Wolff-Parkinson-White syndrome Corpus callosum atrophy Macrovesicular hepatic steatosis Cognitive impairment Progressive macrocephaly Encephalitis Anorexia Headache Hepatosplenomegaly Elevated hepatic transaminase Lymphadenopathy Tetraplegia Pancytopenia Hypertriglyceridemia Diplopia Decreased liver function Meningitis Leukopenia Increased intracranial pressure Hypoalbuminemia Abdominal pain Hemiplegia Hyponatremia Abnormality of coagulation Increased CSF protein Increased serum ferritin Papilledema Hypoproteinemia Generalized edema Immune dysregulation Prolonged prothrombin time Hemophagocytosis Increased total bilirubin Hypofibrinogenemia Dehydration Immunodeficiency Necrotizing encephalopathy Mitral regurgitation Congenital lactic acidosis Abnormal mitochondria in muscle tissue Acute necrotizing encephalopathy Exercise-induced lactic acidemia Neoplasm Cryptorchidism Hypospadias Arrhythmia Postnatal growth retardation Dilated cardiomyopathy Sudden cardiac death Aciduria Decreased testicular size Abnormality of the genital system Normochromic microcytic anemia Prolonged QT interval Hypokinesia Microcytic anemia Migraine Perineal hypospadias 3-Methylglutaconic aciduria Microvesicular hepatic steatosis Nonprogressive cerebellar ataxia Glutaric aciduria Testicular dysgenesis Noncompaction cardiomyopathy 3-Methylglutaric aciduria Penile hypospadias Febrile seizures Talipes equinovarus Premature birth Abnormality of the periventricular white matter Ophthalmoplegia Neurodegeneration Tetraparesis Progressive neurologic deterioration Exotropia Spastic tetraparesis External ophthalmoplegia Failure to thrive in infancy Stridor Brisk reflexes Tremor Hypoplasia of the corpus callosum Kyphosis Recurrent infections Recurrent respiratory infections Respiratory tract infection Unsteady gait Hemolytic anemia Neuronal loss in central nervous system Oligohydramnios Intention tremor Involuntary movements Progressive muscle weakness Dyspnea Photoreceptor layer loss on macular OCT Decreased nerve conduction velocity Depressivity Visual loss Rod-cone dystrophy Reduced visual acuity Photophobia Retinal degeneration Retinal dystrophy Constriction of peripheral visual field Macular atrophy Chorioretinal degeneration Myopia Arthritis Ring scotoma Rheumatoid arthritis Retinal atrophy Anisocytosis Macular edema Juvenile rheumatoid arthritis Poikilocytosis Retinal pigment epithelial atrophy Elliptocytosis Decreased mean corpuscular volume Epiretinal membrane Decreased serum iron Respiratory insufficiency due to muscle weakness Cholelithiasis Brain atrophy Feeding difficulties in infancy Pneumonia Agenesis of corpus callosum Myoclonus Kyphoscoliosis Proximal muscle weakness Myalgia Muscular hypotonia of the trunk Abnormality of the eye Mental deterioration Apnea Abnormality of the liver Hernia Retinopathy Severe global developmental delay Abnormality of eye movement Talipes Stage 5 chronic kidney disease Hepatic failure Metabolic acidosis Abnormal cerebellum morphology Progressive cerebellar ataxia Generalized myoclonic seizures Gliosis Patent ductus arteriosus Cerebellar atrophy Macrocytic anemia Sepsis Abnormality of immune system physiology Diaphragmatic paralysis Normocytic anemia Cholecystitis Nonspherocytic hemolytic anemia Normochromic anemia Abnormal posturing Chronic hemolytic anemia Congenital hemolytic anemia Central nervous system degeneration Chorea Atrial septal defect Hemiplegia/hemiparesis Renal tubular dysfunction Micrognathia Strabismus Sensorineural hearing impairment Abnormal facial shape Ptosis Visual impairment Macrocephaly Dysphagia Respiratory insufficiency CSF pleocytosis



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