Anemia, and Proximal muscle weakness

Diseases related with Anemia and Proximal muscle weakness

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


Top matches:

Low match HEREDITARY MYOPATHY WITH LACTIC ACIDOSIS DUE TO ISCU DEFICIENCY


Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.

HEREDITARY MYOPATHY WITH LACTIC ACIDOSIS DUE TO ISCU DEFICIENCY Is also known as aconitase deficiency|iscu myopathy|iron-sulfur cluster deficiency myopathy|myopathy with deficiency of succinate dehydrogenase and aconitase|myopathy with exercise intolerance, swedish type|myoglobinuria due to abnormal glycolysis

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Fatigue
  • Respiratory distress
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HEREDITARY MYOPATHY WITH LACTIC ACIDOSIS DUE TO ISCU DEFICIENCY

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 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 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 CAMURATI-ENGELMANN DISEASE


Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

CAMURATI-ENGELMANN DISEASE Is also known as diaphyseal dysplasia 1, progressive|engelmann disease|progressive diaphyseal dysplasia|dpd1|ced|pdd

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CAMURATI-ENGELMANN DISEASE

Low match WILSON DISEASE


Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

Low match SARCOIDOSIS


Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

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 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 DIAMOND-BLACKFAN ANEMIA 17; DBA17


Related symptoms:

  • Anemia
  • Hyperpigmentation of the skin


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 17; DBA17

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

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Fatigue Common - Between 50% and 80% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Mitochondrial myopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Peripheral neuropathy Myopathy Leukoencephalopathy Headache Thrombocytopenia Edema Leukopenia Intellectual disability Splenomegaly Hearing impairment Hepatic failure Weight loss Pain Dysphagia Vomiting Ataxia Limb muscle weakness Acidosis Respiratory distress Lactic acidosis Hypertrophic cardiomyopathy

Rare Symptoms - Less than 30% cases


Hepatic steatosis Macrovesicular hepatic steatosis Slender build Abnormality of the gastrointestinal tract Increased CSF protein Poor appetite Abnormality of mitochondrial metabolism Abnormality of the hand Joint swelling Cachexia Easy fatigability Renal insufficiency Congestive heart failure Ragged-red muscle fibers Blindness Visual impairment Seizures Leukodystrophy Polyneuropathy Cirrhosis Nausea Peripheral axonal neuropathy Paresthesia Abnormal facial shape Optic atrophy Hemolytic anemia Failure to thrive Coma Hyperpigmentation of the skin Abnormality of the liver Arthritis Nephrolithiasis Decreased liver function Nephrocalcinosis Dystonia Hypercalciuria Hyperuricemia Spasticity Growth delay Global brain atrophy Optic neuropathy Abnormality of the cerebral white matter Elevated erythrocyte sedimentation rate Oral-pharyngeal dysphagia Bone pain Anorexia Feeding difficulties in infancy Facial palsy Abnormality of the nervous system Difficulty walking Hepatosplenomegaly Glaucoma Abnormality of eye movement Neoplasm Muscular dystrophy Elevated serum creatine phosphokinase Neurological speech impairment Increased muscle fatiguability Exercise intolerance Stroke Palpitations Increased serum lactate Sensorineural hearing impairment Myalgia Ptosis Dysarthria Migraine Dyspnea Subsarcolemmal accumulations of abnormally shaped mitochondria Areflexia Cardiomyopathy Elevated hepatic transaminase Bruising susceptibility Abnormality of the musculature Dementia Dilatation Decreased activity of mitochondrial respiratory chain Acute pancreatitis Hyperthyroidism Interstitial pulmonary abnormality Cerebral edema Tubulointerstitial nephritis Chorioretinal atrophy Stiff neck Increased antibody level in blood Keratoconjunctivitis sicca Hemoptysis Blurred vision Uveitis Heart block Hypothermia Pneumothorax Upper airway obstruction Abnormality of the cerebrospinal fluid Anterior uveitis Dacryocystitis Chorioretinitis Abnormality of the adrenal glands Abnormality of the lymph nodes Skin plaque Generalized lymphadenopathy Erythema nodosum Cystoid macular edema Macular edema Chylothorax Vitreous hemorrhage Abnormality of the pleura Axial dystonia Anterior synechiae of the anterior chamber Night sweats Skin nodule Bone cyst Immune dysregulation Pulmonary fibrosis Infantile encephalopathy Emphysema Arrhythmia Acute necrotizing encephalopathy Papule Cough Scarring Erythema Photophobia Hypothyroidism Alopecia Exercise-induced lactic acidemia Hypopigmentation of the skin Myotonia Fever Cataract Atypical or prolonged hepatitis Kayser-Fleischer ring Mixed demyelinating and axonal polyneuropathy High nonceruloplasmin-bound serum copper Acute hepatitis Hypersexuality Lymphadenopathy Chest pain Diabetes insipidus Progressive macrocephaly Epiphora Biventricular hypertrophy Inflammation of the large intestine Pleural effusion Portal hypertension Hypercalcemia Severe lactic acidosis Eosinophilia Cardiogenic shock Necrotizing encephalopathy Sudden cardiac death Ventricular tachycardia Osteolysis Bronchiectasis Subcutaneous nodule Abnormal lung morphology Pancytopenia Syncope Congenital lactic acidosis Abnormal mitochondria in muscle tissue Abnormal salivary gland morphology Abnormal reproductive system morphology Iridocyclitis Irritability Lethargy Severe global developmental delay Incoordination Abnormal pyramidal sign Retinopathy Adrenal insufficiency Pericardial effusion Progressive spasticity Pallor Developmental regression Talipes Apnea Mental deterioration Abnormality of the eye Muscular hypotonia of the trunk Hypoglycemia Kyphoscoliosis Respiratory failure Myoclonus Poor eye contact Abnormality of movement Stage 5 chronic kidney disease Pneumonia Cyanosis Coarctation of aorta Left ventricular hypertrophy Wide anterior fontanel Aspiration Cardiomegaly Congenital diaphragmatic hernia Cardiac arrest Optic disc pallor Pigmentary retinopathy Febrile seizures Dyskinesia Premature birth Brain atrophy Gliosis Generalized myoclonic seizures Horizontal nystagmus Progressive cerebellar ataxia Pancreatitis Abnormal cerebellum morphology Shock Metabolic acidosis Agenesis of corpus callosum Babinski sign Abnormal conjunctiva morphology Abnormal cardiac ventricular function Wolff-Parkinson-White syndrome Global developmental delay Abnormal trabecular meshwork morphology Pulmonary granulomatosis Vitreous snowballs Enlarged lacrimal glands Maculopapular exanthema Abnormality of the nasal mucosa Increased T cell count Parotitis Nemaline bodies Abnormal liver parenchyma morphology Non-caseating epithelioid cell granulomatosis Corpus callosum atrophy Abnormality of T cell physiology Enlargement of parotid gland Posterior vitreous detachment Abnormality of skin morphology Ventricular hypertrophy Vitritis Vitreous floaters Increased CSF lactate Aspiration pneumonia Hyporeflexia Basal ganglia calcification Patent ductus arteriosus Encephalopathy Hernia Cerebellar atrophy Atrial septal defect Hypocupremia Respiratory insufficiency Weak cry Talipes equinovarus Renal tubular acidosis Cardiorespiratory arrest Macrocephaly Intrauterine growth retardation Hyperreflexia Feeding difficulties Muscular hypotonia Progressive encephalopathy Strabismus Micrognathia Nystagmus Generalized hypotonia Poor motor coordination Confusion Premature osteoarthritis Progressive external ophthalmoplegia Hyperalaninemia Intestinal pseudo-obstruction Decreased number of large peripheral myelinated nerve fibers Abnormality of the mitochondrion Skeletal myopathy Gastrointestinal dysmotility Demyelinating peripheral neuropathy Absent Achilles reflex Abnormality of the vasculature Scleroderma Gastroparesis Axonal degeneration Difficulty climbing stairs Decreased muscle mass Malnutrition Decreased motor nerve conduction velocity Ophthalmoparesis Bilateral ptosis Polycystic ovaries External ophthalmoplegia Intermittent diarrhea Cytochrome C oxidase-negative muscle fibers Hypergonadotropic hypogonadism Gait disturbance Hyperlordosis Pes planus Skeletal dysplasia Mandibular prognathia Proptosis Hyperactivity Hypogonadism Kyphosis Frontal bossing Flexion contracture Decreased sensory nerve conduction velocity Scoliosis Small intestinal dysmotility Abnormality of the extraocular muscles Abnormal cell morphology Atrophic muscularis propria Hypointensity of cerebral white matter on MRI Intestinal perforation Multiple mitochondrial DNA deletions Diffuse leukoencephalopathy Hypogonadotrophic hypogonadism Foot dorsiflexor weakness Carious teeth Short stature Epistaxis Hypotelorism Prominent nose Abnormal bleeding Ichthyosis Skin rash Deeply set eye High forehead Severe short stature Abnormal iron deposition in mitochondria Purpura Decreased activity of mitochondrial complex III Decreased activity of mitochondrial complex II Increased intramyocellular lipid droplets Decreased activity of mitochondrial complex I Sideroblastic anemia Myoglobinuria Rhabdomyolysis Muscle cramps Tachycardia Hypocalcemia Abnormality of coagulation Sensorimotor neuropathy Abdominal pain Chronic diarrhea Peripheral demyelination Abdominal distention Distal sensory impairment Distal amyotrophy Malabsorption Ophthalmoplegia Distal muscle weakness Gastroesophageal reflux Constipation Subarachnoid hemorrhage Diarrhea Congenital miosis Upgaze palsy Abnormal platelet morphology Increased mean platelet volume Miosis Abnormal thrombocyte morphology Stroke-like episode Dyslexia Asplenia Paralysis Delayed puberty Abnormality of the menstrual cycle Joint hypermobility Increased body weight Involuntary movements Clumsiness Cholestasis Osteoarthritis Progressive neurologic deterioration Psychosis Hepatitis Ascites Poor speech Spontaneous abortion Infertility Nausea and vomiting Pruritus Aggressive behavior Proteinuria Anxiety Rigidity Jaundice Arthralgia Muscle stiffness Aminoaciduria Depressivity Increased reactive oxygen species production Retinoblastoma Proximal muscle weakness in lower limbs Menstrual irregularities Neoplasm of the liver Hyperphosphaturia Esophageal varix Chondrocalcinosis Acute hepatic failure Renal tubular dysfunction Hand tremor Drooling Hypoparathyroidism Hepatocellular carcinoma Abnormality of blood and blood-forming tissues Arthropathy Osteomalacia Glycosuria Pathologic fracture Personality changes Back pain Schizophrenia Osteoporosis Cerebral atrophy Genu valgum Coxa valga Abnormality of the skull Aplasia/Hypoplasia of the radius Abnormality of the vertebral column Metaphyseal dysplasia Reduced subcutaneous adipose tissue Hyperostosis Abnormality of pelvic girdle bone morphology Tinnitus Increased intracranial pressure Vasculitis Raynaud phenomenon Bone marrow hypocellularity Increased bone mineral density Diplopia Lumbar hyperlordosis Waddling gait Limitation of joint mobility Delayed eruption of teeth Sensory neuropathy Vertigo Gangrene Abnormality of the ulna Tremor Abnormality of the radius Elevated aldolase level Abnormal subcutaneous fat tissue distribution Cortical thickening of long bone diaphyses Cortical sclerosis Craniofacial osteosclerosis Optic nerve compression Diaphyseal dysplasia Diaphyseal sclerosis Cranial nerve compression Limb pain Facial paralysis Cranial hyperostosis Sclerosis of skull base Lower limb pain Abnormal diaphysis morphology Urinary retention Abnormality of the humerus Otosclerosis Extramedullary hematopoiesis Abnormality of femur morphology Abnormality of tibia morphology Increased muscle glycogen content



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