Anemia, and Distal muscle weakness

Diseases related with Anemia and Distal muscle weakness

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


Top matches:

Low match TANGIER DISEASE


Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.

TANGIER DISEASE Is also known as defective adenosine triphosphate-binding cassette transporter a1|analphalipoproteinemia|atp-binding cassette transporter a1 deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Abdominal pain
  • Hepatosplenomegaly
  • Distal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about TANGIER DISEASE

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 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY


Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY Is also known as myoneurogastrointestinal encephalopathy syndrome|polip syndrome|mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related|polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction|mngie|mngie, tymp-related

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY

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Other less relevant matches:

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 GLYCOGEN STORAGE DISEASE DUE TO MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY


Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.

GLYCOGEN STORAGE DISEASE DUE TO MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY Is also known as tarui disease|glycogen storage disease type 7|glycogen storage disease type vii|gsd type 7|glycogenosis type 7|glycogenosis due to muscle phosphofructokinase deficiency|gsd type vii|glycogenosis type vii|gsd due to muscle phosphofructokinase deficiency

Related symptoms:

  • Muscle weakness
  • Anemia
  • Skeletal muscle atrophy
  • Myotonia
  • Hyperuricemia


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY

Low match POSTERIOR COLUMN ATAXIA-RETINITIS PIGMENTOSA SYNDROME


Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.

POSTERIOR COLUMN ATAXIA-RETINITIS PIGMENTOSA SYNDROME Is also known as pcarp|autosomal recessive posterior column ataxia and retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about POSTERIOR COLUMN ATAXIA-RETINITIS PIGMENTOSA SYNDROME

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 CHOREOACANTHOCYTOSIS


Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.

CHOREOACANTHOCYTOSIS Is also known as neuroacanthocytosis|chorea-acanthocytosis|chac|levine-critchley syndrome|acanthocytosis with neurologic disorder

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHOREOACANTHOCYTOSIS

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

Low match NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C


HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by Riviere et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Peripheral neuropathy
  • Areflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C

Top 5 symptoms//phenotypes associated to Anemia and Distal muscle weakness

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Areflexia 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 Distal muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abdominal pain Sensory neuropathy Intellectual disability Neoplasm Elevated hepatic transaminase Abnormality of movement Dysarthria Gait disturbance Abnormality of eye movement Seizures Short stature

Rare Symptoms - Less than 30% cases


Chorea Distal sensory impairment Distal amyotrophy Limb ataxia Polycystic ovaries Limb muscle weakness Polyneuropathy Anxiety Neurological speech impairment Tremor Scoliosis Decreased sensory nerve conduction velocity Nystagmus Acanthocytosis Cognitive impairment Decreased number of large peripheral myelinated nerve fibers Gastrointestinal dysmotility Leukemia Absent Achilles reflex Dystonia Hyporeflexia Recurrent respiratory infections Axonal degeneration Gait ataxia Malabsorption Cataract Peripheral axonal neuropathy Hepatosplenomegaly Myopathy Dysphagia Weight loss Dementia Scotoma Neoplasm of the breast Abnormal spermatogenesis Impaired vibration sensation in the lower limbs Defective B cell differentiation Bowel incontinence Undetectable electroretinogram Elevated alpha-fetoprotein Osteomyelitis Delayed gross motor development Decreased proportion of CD4-positive T cells Chronic myelogenous leukemia Cellular immunodeficiency Conjunctival telangiectasia Abnormality of chromosome stability Joint contracture of the hand Chronic lymphatic leukemia Achalasia Hypoplasia of the thymus Spinocerebellar tract degeneration Bone spicule pigmentation of the retina Impaired proprioception Lymphoproliferative disorder Abnormality of the testis Chronic pain B-cell lymphoma Chronic hepatitis Broad-based gait Recurrent urinary tract infections Intellectual disability, mild Hyperuricemia Increased muscle glycogen content IgE deficiency Interosseus muscle atrophy Generalized hypotonia Titubation Visual impairment Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Optic atrophy Blindness Kyphosis Female hypogonadism Visual loss Rod-cone dystrophy Camptodactyly Nyctalopia Muscle cramps Non-Hodgkin lymphoma Mucosal telangiectasiae Urinary incontinence Aplasia/Hypoplasia of the thymus Increased sensitivity to ionizing radiation Pigmentary retinopathy Myotonia Sensory ataxia Behavioral abnormality Positive Romberg sign Personality changes Tics Acute hepatic failure Self-mutilation Protruding tongue Abnormality of the thyroid gland Generalized amyotrophy Self-injurious behavior Disinhibition Abnormality of vision Drooling EMG abnormality Vasculitis Involuntary movements Progressive neurologic deterioration Psychosis Orofacial dyskinesia Dysgraphia Memory impairment Abnormality of urine homeostasis Global developmental delay Self-mutilation of tongue and lips due to involuntary movements Square-wave jerks Subcortical dementia Progressive choreoathetosis Progressive distal muscular atrophy Hair-pulling Phonic tics Muscle fiber atrophy Caudate atrophy Distal upper limb muscle weakness Abnormal erythrocyte morphology Difficulty in tongue movements Abetalipoproteinemia Mood changes Abnormal urinary color Neuronal loss in central nervous system Gliosis Abnormality of the spinal cord Hepatomegaly Elevated serum creatine phosphokinase Depressivity Cerebral atrophy Splenomegaly Recurrent bronchitis Ventriculomegaly Fatigue Feeding difficulties Cerebral cortical atrophy Muscular hypotonia Hyperpigmentation of the skin Abnormal sensory nerve conduction velocity Abnormality of peripheral nerves Ring scotoma Flexion contracture of finger Truncal titubation Pes cavus Abnormality of the nervous system Parkinsonism Abnormality of the foot Abnormal bleeding Generalized muscle weakness Ascites Sleep disturbance Neurodegeneration Dyskinesia Lymphadenopathy Nausea and vomiting Aggressive behavior Generalized tonic-clonic seizures Attention deficit hyperactivity disorder Pallor Developmental regression Mental deterioration Abnormality of the eye Hypertrophic cardiomyopathy Renal neoplasm Reduced tendon reflexes Chromosome breakage Decreased motor nerve conduction velocity Leukodystrophy Sensorimotor neuropathy Foot dorsiflexor weakness Hypergonadotropic hypogonadism Hypogonadotrophic hypogonadism External ophthalmoplegia Leukoencephalopathy Ragged-red muscle fibers Easy fatigability Cachexia Abnormality of the hand Bilateral ptosis Abnormality of mitochondrial metabolism Ophthalmoparesis Malnutrition Peripheral demyelination Abnormality of the gastrointestinal tract Hyperalaninemia Intestinal pseudo-obstruction Abnormality of the mitochondrion Skeletal myopathy Demyelinating peripheral neuropathy Slender build Increased CSF protein Decreased muscle mass Abnormality of the vasculature Progressive external ophthalmoplegia Mitochondrial myopathy Poor appetite Scleroderma Difficulty climbing stairs Chronic diarrhea Abdominal distention Gastroparesis Facial diplegia Carotid artery stenosis Accelerated atherosclerosis Coronary artery stenosis Progressive peripheral neuropathy Chronic noninfectious lymphadenopathy Hypocholesterolemia Syringomyelia Orange discoloured tonsils Ectropion Left ventricular hypertrophy Hypertriglyceridemia Dry skin Nail dystrophy Corneal opacity Impaired thermal sensitivity Hearing impairment Cirrhosis Proximal muscle weakness Nausea Lactic acidosis Paresthesia Ophthalmoplegia Abnormality of the cerebral white matter Muscular dystrophy Gastroesophageal reflux Sensorineural hearing impairment Acidosis Constipation Diarrhea Vomiting Ptosis Pain Intermittent diarrhea Cytochrome C oxidase-negative muscle fibers Recurrent lower respiratory tract infections Truncal ataxia Slurred speech Breast carcinoma Cerebral palsy Thrombocytopenia Oculomotor apraxia Recurrent pneumonia Abnormality of the hair Athetosis Lymphopenia Abnormal vertebral morphology Sinusitis Cafe-au-lait spot Bronchiectasis Telangiectasia Spinal muscular atrophy Glucose intolerance Intention tremor Prematurely aged appearance Severe combined immunodeficiency Acute lymphoblastic leukemia Hepatocellular carcinoma Hypopigmentation of hair Hodgkin lymphoma IgA deficiency Myeloid leukemia Combined immunodeficiency Abnormality of the immune system Telangiectasia of the skin Multiple cafe-au-lait spots Aplasia/Hypoplasia of the skin Resting tremor Premature graying of hair Choreoathetosis Pancytopenia Macrovesicular hepatic steatosis Abnormality of the extraocular muscles Flexion contracture Spasticity Strabismus Failure to thrive Microcephaly Small intestinal dysmotility Abnormal cell morphology Immunodeficiency Atrophic muscularis propria Hypointensity of cerebral white matter on MRI Intestinal perforation Subsarcolemmal accumulations of abnormally shaped mitochondria Multiple mitochondrial DNA deletions Diffuse leukoencephalopathy Cerebellar atrophy Recurrent infections Type II diabetes mellitus Unsteady gait Apraxia Hepatitis Decreased antibody level in blood Lymphoma Progressive cerebellar ataxia Abnormal cerebellum morphology Delayed puberty Pneumonia Abnormality of the liver Respiratory tract infection Carcinoma Difficulty walking Diabetes mellitus Myoclonus Paralysis



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