Anemia, and Unsteady gait

Diseases related with Anemia and Unsteady gait

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


Top matches:

Low match ACTION MYOCLONUS-RENAL FAILURE SYNDROME


Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.

ACTION MYOCLONUS-RENAL FAILURE SYNDROME Is also known as myoclonus-nephropathy syndrome|progressive myoclonic epilepsy type 4|epm4|amrf|action myoclonus-renal failure syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Anemia
  • Peripheral neuropathy
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACTION MYOCLONUS-RENAL FAILURE SYNDROME

Low match PYRIDOXAL PHOSPHATE-RESPONSIVE SEIZURES


Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.

PYRIDOXAL PHOSPHATE-RESPONSIVE SEIZURES Is also known as pyridoxamine 5'-phosphate oxidase deficiency|seizures, pyridoxine-resistant, plp-sensitive|pnpo deficiency|pyridoxal phosphate-dependent seizures|epileptic encephalopathy, neonatal, pnpo-related|pnpo-related neonatal epileptic encephalopathy|pyridoxamine

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Failure to thrive
  • Anemia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYRIDOXAL PHOSPHATE-RESPONSIVE SEIZURES

Low match ATAXIA-PANCYTOPENIA SYNDROME


Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.

ATAXIA-PANCYTOPENIA SYNDROME Is also known as myelocerebellar disorder

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Anemia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ATAXIA-PANCYTOPENIA SYNDROME

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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 PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY


Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.

PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Is also known as diaphorase deficiency|2-oxoglutarate complex deficiency|pyruvate dehydrogenase protein x component deficiency|dihydrolipoyl dehydrogenase deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase complex component e3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

Low match METHYLCOBALAMIN DEFICIENCY TYPE CBLG


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. Clinical features are somewhat variable, but include delayed psychomotor development, 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 (OMIM ) and CblG (Watkins and Rosenblatt, 1988). Most patients present in early infancy, but some patients with CblG have shown later onset (Outteryck et al., 2012). 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).CblE is caused by mutation in the MTRR gene (OMIM ).Watkins and Rosenblatt (1989) commented on the clinical and biochemical heterogeneity in patients with cblE and cblG.

METHYLCOBALAMIN DEFICIENCY TYPE CBLG Is also known as functional methionine synthase deficiency type cblg|methylcobalamin deficiency, cblg type|homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblg complementation type|methionine synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about METHYLCOBALAMIN DEFICIENCY TYPE CBLG

Low match ATAXIA-TELANGIECTASIA


Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

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

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 KURU, SUSCEPTIBILITY TO


Kuru, a fatal neurodegenerative condition, is a human prion disease that primarily affected the Fore linguistic group of the Eastern Highlands of Papua New Guinea. Kuru was transmitted by the practice of consuming dead relatives as a mark of respect and mourning ('transumption'). The incidence has fallen dramatically since the cessation of cannibalism in the 1950s (summary by Wadsworth et al., 2008).

Related symptoms:

  • Ataxia
  • Mental deterioration
  • Abnormality of eye movement
  • Unsteady gait
  • Neurodegeneration


SOURCES: OMIM MENDELIAN

More info about KURU, SUSCEPTIBILITY TO

Top 5 symptoms//phenotypes associated to Anemia and Unsteady gait

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

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

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Dysarthria Nystagmus Intellectual disability Abnormality of eye movement Gait ataxia Generalized hypotonia Peripheral neuropathy Gait disturbance Thrombocytopenia Respiratory distress Feeding difficulties Feeding difficulties in infancy Hypertonia Acidosis Dystonia Cerebral atrophy Metabolic acidosis Spasticity Hemolytic anemia Muscle weakness Intention tremor Cerebellar atrophy Renal insufficiency Myoclonus Recurrent respiratory infections Neutropenia Decreased nerve conduction velocity Pancytopenia

Rare Symptoms - Less than 30% cases


Decreased antibody level in blood Progressive cerebellar ataxia Muscular hypotonia Leukemia Congestive heart failure Neurological speech impairment Telangiectasia Myeloid leukemia Babinski sign Skeletal muscle atrophy Jaundice Recurrent infections Respiratory failure Increased sensitivity to ionizing radiation Broad-based gait Respiratory tract infection Methylmalonic aciduria Mental deterioration Slurred speech Difficulty walking Neoplasm Hypomethioninemia Decreased methionine synthase activity Decreased methylcobalamin Hyperhomocystinemia Hemolytic-uremic syndrome Homocystinuria Megaloblastic anemia Macrocytic anemia Aciduria Lethargy Hypertension Flexion contracture Growth delay Short stature Severe global developmental delay Vomiting Respiratory insufficiency Chronic hemolytic anemia Splenomegaly Poor coordination Hyperreflexia Generalized-onset seizure Increased serum lactate Muscular hypotonia of the trunk Leukopenia Dementia Normochromic anemia Proteinuria Nephropathy Scoliosis Renal neoplasm Telangiectasia of the skin Abnormality of the immune system Prematurely aged appearance IgA deficiency Hodgkin lymphoma Hypopigmentation of hair Hepatocellular carcinoma Acute lymphoblastic leukemia Severe combined immunodeficiency Recurrent lower respiratory tract infections Chromosome breakage Recurrent bronchitis B-cell lymphoma Aplasia/Hypoplasia of the skin Abnormality of the testis Lymphoproliferative disorder Spinocerebellar tract degeneration Anxiety Absent Achilles reflex Hypoplasia of the thymus Chronic lymphatic leukemia Cellular immunodeficiency Abnormality of chromosome stability Carcinoma Conjunctival telangiectasia Chronic myelogenous leukemia Neoplasm of the breast Abnormal spermatogenesis Multiple cafe-au-lait spots Resting tremor Delayed puberty Abnormal vertebral morphology Abnormality of movement Distal amyotrophy Polyneuropathy Abnormal cerebellum morphology Chorea Lymphoma Hepatitis Apraxia Type II diabetes mellitus Choreoathetosis Bronchiectasis Limb ataxia Cafe-au-lait spot Sinusitis Lymphopenia Premature graying of hair Abnormality of the hair Truncal ataxia Distal muscle weakness Recurrent pneumonia Oculomotor apraxia Reduced tendon reflexes Cerebral palsy Breast carcinoma Abnormality of the liver Polycystic ovaries Spinal muscular atrophy Elevated alpha-fetoprotein Glucose intolerance Combined immunodeficiency Athetosis Female hypogonadism Decreased proportion of CD4-positive T cells Recurrent urinary tract infections Apathy Ectopia lentis Hemiplegia Atherosclerosis Abnormality of retinal pigmentation Anorexia Pulmonary arterial hypertension Thromboembolism Psychosis Abnormality of extrapyramidal motor function Pigmentary retinopathy Memory impairment Urinary incontinence Hepatic steatosis Disproportionate tall stature Cor pulmonale Joint hypermobility Decreased adenosylcobalamin Thyroglossal cyst Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Cystathioninuria Vitamin B12 deficiency Urogenital fistula Myelopathy Delirium Abnormality of macular pigmentation Methylmalonic acidemia Atrophy of the spinal cord Right ventricular failure Gastritis Hematuria Long face Chronic hepatitis IgE deficiency Visual impairment Low-set ears Cataract Abnormal facial shape Hearing impairment Defective B cell differentiation Interosseus muscle atrophy Intellectual disability, severe Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Non-Hodgkin lymphoma Mucosal telangiectasiae Aplasia/Hypoplasia of the thymus Hydrocephalus Depressivity Abnormality of skin pigmentation Congenital cataract Retinal degeneration Paresthesia Confusion Smooth philtrum Lower limb muscle weakness Malabsorption Hip dislocation Cerebral cortical atrophy Retinopathy Dysphagia Arthritis Macrotia High forehead Reduced visual acuity Weight loss Elevated hepatic transaminase Cognitive impairment Diabetes mellitus Progressive microcephaly Abnormality of the amniotic fluid Fetal distress Motor delay Moderate global developmental delay Fatigue Excessive salivation Cardiomyopathy Myopathy Global brain atrophy Abnormality of the coagulation cascade Kyphosis CNS hypomyelination Areflexia Hyporeflexia Hemiparesis High-pitched cry Optic disc pallor Abnormality of immune system physiology Cholelithiasis Respiratory insufficiency due to muscle weakness Progressive muscle weakness Involuntary movements Oligohydramnios Neuronal loss in central nervous system Hypertrophic cardiomyopathy Dyskinesia Epileptic encephalopathy Limb muscle weakness Abnormal pyramidal sign Pallor Status epilepticus Hemiclonic seizures Abnormal macrophage morphology Normocytic anemia Clonus Abnormality of arginine metabolism Abnormality of the nervous system Abnormality of threonine metabolism Low APGAR score Abnormality of the cerebral white matter Dysmetria Distal sensory impairment Abnormality of glycine metabolism Postural instability Abnormality of tyrosine metabolism Gliosis Abnormality of histidine metabolism EEG with burst suppression Pyridoxine-responsive sideroblastic anemia Bone marrow hypocellularity Acute myelomonocytic leukemia Acute leukemia Hypoplastic anemia Hypoargininemia Abnormal platelet function Vertical nystagmus Abnormality of neutrophils Gait imbalance Hyperactive deep tendon reflexes Incoordination Impaired vibration sensation in the lower limbs Acute myeloid leukemia Decreased CSF homovanillic acid Ankle clonus Aplasia/Hypoplasia of the cerebellum Myelodysplasia Diaphragmatic paralysis Cholecystitis Pneumonia Action tremor Hyperalaninemia Decreased activity of the pyruvate dehydrogenase complex Periventricular cysts Subependymal cysts Projectile vomiting Poor gross motor coordination Mild proteinuria Abnormal glycosylation Pain Demyelinating peripheral neuropathy Blindness Diarrhea Pes planus EEG abnormality Glomerulopathy Poor fine motor coordination Rotary nystagmus Immunodeficiency Strabismus Stage 5 chronic kidney disease Falls Nephrotic syndrome Hypoalbuminemia Glomerulosclerosis Eczema Postural tremor Focal segmental glomerulosclerosis Optic neuropathy Slender finger Leukoencephalopathy Paraparesis Increased serum pyruvate Severe lactic acidosis Nonspherocytic hemolytic anemia Agenesis of corpus callosum Abnormal posturing Premature birth Congenital hemolytic anemia Central nervous system degeneration Generalized myoclonic seizures Hypertelorism High palate Epicanthus Optic atrophy Ventriculomegaly Autistic behavior Hypoplasia of the corpus callosum Dilatation Pectus excavatum Thin upper lip vermilion Corpus callosum atrophy Autism Encephalopathy Lipoma Difficulty running Partial agenesis of the corpus callosum Spastic diplegia Trigonocephaly Progressive neurologic deterioration Neonatal hypotonia Tetraparesis Spastic tetraplegia Coma Lactic acidosis Spastic paraplegia Hypoglycemia Neurodegeneration



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