Anemia, and Lower limb muscle weakness

Diseases related with Anemia and Lower limb muscle weakness

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


Top matches:

Low match MCLEOD NEUROACANTHOCYTOSIS SYNDROME


McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

Low match X-LINKED CENTRONUCLEAR MYOPATHY


X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

X-LINKED CENTRONUCLEAR MYOPATHY Is also known as x-linked myotubular myopathy|myotubular myopathy, x-linked|myotubular myopathy 1|xlmtm|mtmx|xlcnm|mtm1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CENTRONUCLEAR MYOPATHY

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

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Other less relevant matches:

Low match PRIMARY CD59 DEFICIENCY


Primary CD59 deficiency is a rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation).

PRIMARY CD59 DEFICIENCY Is also known as cd59 deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Anemia
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PRIMARY CD59 DEFICIENCY

Low match PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY


Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.

PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY Is also known as porphyria due to alad deficiency|doss porphyria|delta-aminolevulinate dehydratase deficiency|alad porphyria|porphyria, alad|porphyria of doss|alad deficiency|porphyria due to delta-aminolevulinate dehydratase deficiency|porphobilinogen synthase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA DUE TO ALA DEHYDRATASE 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 NEUROPATHY, PAINFUL


Related symptoms:

  • Peripheral neuropathy
  • Fever
  • Skeletal muscle atrophy
  • Lower limb muscle weakness


SOURCES: OMIM MESH MENDELIAN

More info about NEUROPATHY, PAINFUL

Low match CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME


Hypermanganesemia with dystonia-1 is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved (summary by Tuschl et al., 2012 and Quadri et al., 2012). Genetic Heterogeneity of Hypermanganesemia With DystoniaSee also HMNDYT2 (OMIM ), caused by mutation in the SLC39A14 gene (OMIM ) on chromosome 8p21.

CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME Is also known as hmdpc|hypermanganesemia with dystonia, polycythemia, and cirrhosis

Related symptoms:

  • Microcephaly
  • Ataxia
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME

Low match STORMORKEN-SJAASTAD-LANGSLET SYNDROME


Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.

STORMORKEN-SJAASTAD-LANGSLET SYNDROME Is also known as thrombocytopathy-asplenia-miosis syndrome|york platelet syndrome|thrombocytopathy, asplenia, and miosis|yps|stormorken syndrome

Related symptoms:

  • Short stature
  • Muscle weakness
  • Anemia
  • Fatigue
  • Myopathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about STORMORKEN-SJAASTAD-LANGSLET 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 Lower limb muscle weakness

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Hemolytic anemia Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Lower limb muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Respiratory insufficiency Limb muscle weakness Myopathy High forehead Paresthesia Polyneuropathy Respiratory failure Hypertension Areflexia Fatigue Muscular hypotonia Elevated serum creatine phosphokinase Skeletal muscle atrophy Gait disturbance Cardiomyopathy

Rare Symptoms - Less than 30% cases


Behavioral abnormality Dysarthria Abnormal bleeding Sleep apnea Hepatomegaly Jaundice Long face Emotional lability Intellectual disability Depressivity Ataxia Paralysis Arthritis Failure to thrive Difficulty walking Congestive heart failure Motor axonal neuropathy Short stature Dysphagia Hypertonia Thrombocytopenia Myalgia Increased muscle fatiguability Hydrocephalus Sensorimotor neuropathy Hemolytic-uremic syndrome Feeding difficulties Abnormality of movement Decreased liver function Dementia Psychosis Dyspnea Flexion contracture Rigidity Elevated hepatic transaminase Abnormality of extrapyramidal motor function Mental deterioration Abnormality of coagulation Vomiting Pain Hematuria Confusion Splenomegaly Dystonia Polycythemia Sensory neuropathy Parkinsonism Cholelithiasis Memory impairment Neuronal loss in central nervous system Microcephaly Hepatic steatosis Tremor Tachycardia Abdominal pain Gliosis Hemiparesis Pneumonia Postural instability Neurodegeneration Gastrointestinal hemorrhage Cirrhosis Dysmetria Hypertrophic cardiomyopathy Encephalopathy Hyponatremia Fever Neoplasm Elevated urinary delta-aminolevulinic acid Abdominal colic Wrist drop Respiratory paralysis Abnormality of the liver Hypomethioninemia Constipation Myelopathy Abnormality of macular pigmentation Chronic hemolytic anemia Methylmalonic acidemia Atrophy of the spinal cord Right ventricular failure Gastritis Homocystinuria Urogenital fistula Methylmalonic aciduria Cor pulmonale Megaloblastic anemia Thromboembolism Disproportionate tall stature Apathy Ectopia lentis Delirium Decreased methylcobalamin Diarrhea Thyroglossal cyst Paroxysmal nocturnal hemoglobinuria Hemoglobinuria Increased CSF protein Peripheral demyelination Pallor Hyporeflexia Cystathioninemia Hyperhomocystinemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Truncal ataxia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Bradykinesia Micronodular cirrhosis Paraparesis Mitochondrial myopathy Abnormal platelet morphology Increased mean platelet volume Miosis Abnormal thrombocyte morphology Stroke-like episode Dyslexia Asplenia Subarachnoid hemorrhage Congenital miosis Abnormality of the musculature Purpura Hypocalcemia Epistaxis Hypotelorism Prominent nose Migraine Upgaze palsy Blindness Ichthyosis Gout Increased muscle glycogen content Exercise-induced myoglobinuria Exercise-induced muscle cramps Gastric ulcer Increased total bilirubin Dark urine Nonspherocytic hemolytic anemia Myoglobinuria Corneal opacity Reticulocytosis Easy fatigability Exercise intolerance Cerebral visual impairment Muscle cramps Nausea Nausea and vomiting Bruising susceptibility Neurological speech impairment Hyperbilirubinemia Action tremor Abnormal myelination Poor fine motor coordination Prolonged prothrombin time Astrocytosis Esophageal varix Echolalia Hypomimic face Generalized dystonia Hepatic encephalopathy Limb dystonia Axonal loss Steppage gait Toe walking Portal hypertension Dysdiadochokinesis Spastic paraparesis Hyperglycinemia Slurred speech Stroke Abnormal transferrin saturation Skin rash Proximal muscle weakness Deeply set eye Severe short stature Dilatation Headache Abnormality of divalent inorganic cation homeostasis Copper accumulation in liver Unconjugated hyperbilirubinemia Increased total iron binding capacity Decreased serum ferritin Pica Abnormality of amino acid metabolism Abnormal basal ganglia MRI signal intensity Abnormal globus pallidus morphology Vitamin E deficiency Hemiplegia Reduced visual acuity Atherosclerosis Recurrent singultus Cryptorchidism Scoliosis Abnormality of the astrocytes Hyporeflexia of upper limbs Abnormal facial expression Blood group antigen abnormality Abnormal corpus striatum morphology High palate Caudate atrophy Abnormal lactate dehydrogenase activity Abnormal social behavior Impaired temperature sensation Generalized limb muscle atrophy Personality disorder Ptosis Myopia Excessive salivation Dolichocephaly Waddling gait Dental malocclusion Generalized muscle weakness Inability to walk Arachnodactyly Ophthalmoplegia Apnea Macrocephaly Facial palsy Kyphoscoliosis Polyhydramnios Mandibular prognathia Midface retrusion Respiratory distress Talipes equinovarus Hyporeflexia of lower limbs Orofacial dyskinesia Hepatitis Dilated cardiomyopathy Involuntary movements Atrial fibrillation Generalized-onset seizure Chorea Dyskinesia Abnormality of the cerebral white matter Anxiety Hallucinations Hepatosplenomegaly Hyperhidrosis Babinski sign Arrhythmia Cerebral atrophy Cognitive impairment Left ventricular hypertrophy Cardiac arrest Tics Restlessness Acanthocytosis Supraventricular tachycardia Left bundle branch block Ventricular extrasystoles Bipolar affective disorder Insomnia Impaired pain sensation Ventricular arrhythmia Impaired vibration sensation in the lower limbs Rhabdomyolysis Bowel incontinence Sensory axonal neuropathy Ventricular fibrillation Personality changes Obsessive-compulsive behavior Hip dysplasia Decreased fetal movement Abnormality of retinal pigmentation Gait ataxia Hip dislocation Retinopathy Feeding difficulties in infancy Proteinuria Macrotia Acidosis Weight loss Congenital cataract Cerebral cortical atrophy Renal insufficiency Intellectual disability, severe Visual impairment Low-set ears Cataract Lethargy Malabsorption Nystagmus Aciduria Anorexia Recurrent urinary tract infections Broad-based gait Pulmonary arterial hypertension Pancytopenia Pigmentary retinopathy Urinary incontinence Smooth philtrum Neutropenia Metabolic acidosis Nephropathy Joint hypermobility Abnormality of skin pigmentation Retinal degeneration Unsteady gait Abnormal facial shape Growth delay Nephrolithiasis Hemangioma Mask-like facies Neonatal respiratory distress Myotonia Ophthalmoparesis Pyloric stenosis Atrioventricular block External ophthalmoplegia Hypokinesia Severe muscular hypotonia Accelerated skeletal maturation Nephrocalcinosis EMG abnormality Narrow face Progressive muscle weakness Long fingers Weak cry Hearing impairment Nocturnal hypoventilation Global developmental delay Hepatic hemangioma Respiratory failure requiring assisted ventilation Birth length greater than 97th percentile Slender toe Premature adrenarche Fractures of the long bones Centrally nucleated skeletal muscle fibers Cavernous hemangioma Diaphragmatic eventration Spherocytosis Head tremor Facial diplegia Hypoventilation Neck muscle weakness Reduced erythrocyte 2,3-diphosphoglycerate concentration



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