Anemia, and Congenital muscular dystrophy

Diseases related with Anemia and Congenital muscular dystrophy

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


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Low match DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1


Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration (summary by Zarychanski et al., 2012). Patients may also show perinatal edema and pseudohyperkalemia due to loss of K+ from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis (summary by Albuisson et al., 2013).Dehydrated red blood cells, including those from hereditary xerocytosis patients, show delayed infection rates to Plasmodium in vitro, suggesting a potential protective mechanism against malaria (Tiffert et al., 2005). A polymorphism in PIEZO1 that is enriched in populations of African descent and results in xerocytosis conferred resistance to Plasmodium infection in vitro (see {611184.0016}).The 'leaky red blood cells' in familial pseudohyperkalemia show a temperature-dependent loss of potassium when stored at room temperature, manifesting as apparent hyperkalemia. The red blood cells show a reduced life span in vivo, but there is no frank hemolysis. Studies of cation content and transport show a marginal increase in permeability at 37 degrees C and a degree of cellular dehydration, qualitatively similar to the changes seen in dehydrated hereditary stomatocytosis. Physiologic studies show that the passive leak of potassium has an abnormal temperature dependence, such that the leak is less sensitive to temperature than that in normal cells (summary by Iolascon et al., 1999).Carella et al. (2004) noted that 3 clinical forms of pseudohyperkalemia unassociated with hematologic manifestations, based predominantly on the leak-temperature dependence curve, had been reported: (1) pseudohyperkalemia Edinburgh, in which the curve has a shallow slope; (2) pseudohyperkalemia Chiswick or Falkirk (see {609153}), in which the curve is shouldered; and (3) pseudohyperkalemia Cardiff (see {609153}), in which the temperature dependence of the leak shows a 'U-shaped' profile with a minimum at 23 degrees C. Gore et al. (2004) stated that potassium-flux temperature profiles are consistent both from year to year in an individual as well as consistent within affected members of a pedigree. Genetic Heterogeneity of Hereditary StomatocytosisDehydrated hereditary stomatocytosis-2 (DHS2 ) is caused by mutation in the KCNN4 gene (OMIM ) on chromosome 19q13. Another form of stomatocytosis, involving familial pseudohyperkalemia with minimal hematologic abnormalities (PSHK2 ), is caused by mutation in the ABCB6 gene (OMIM ) on chromosome 2q35. Cryohydrocytosis (CHC ) is caused by mutation in the SLC4A1 gene (OMIM ) on chromosome 17q21, and stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN ) is caused by mutation in the SLC2A1 gene (OMIM ) on chromosome 1p34. An overhydrated form of hereditary stomatocytosis (OHST ) is caused by mutation in the RHAG gene (OMIM ) on chromosome 6p12.See {137280} for a discussion of the association of familial stomatocytosis and hypertrophic gastritis in the dog, an autosomal recessive syndrome. ReviewsDelaunay (2004) reviewed genetic disorders of red cell membrane permeability to monovalent cations, noting 'inevitable' overlap between entities based on clinical phenotype.Bruce (2009) provided a review of hereditary stomatocytosis and cation-leaky red cells, stating that consistent features include hemolytic anemia, a monovalent cation leak, and changes in red cell morphology that appear to follow a continuum, from normal discocyte to stomatocyte to echinocyte in DHS, and from discocyte to stomatocyte to spherocyte to fragmentation in OHST. Bruce (2009) suggested that the underlying pathologic mechanism might involve misfolded mutant proteins that escape the quality control system of the cell and reach the red cell membrane, where they disrupt the red cell membrane structure and cause a cation leak that alters the hydration of the red cell, thereby changing the morphology and viability of the cell.King and Zanella (2013) provided an overview of 2 groups of nonimmune hereditary red cell membrane disorders caused by defects in membrane proteins located in distinct layers of the red cell membrane: red cell cytoskeleton disorders, including hereditary spherocytosis (see {182900}), hereditary elliptocytosis (see {611804}), and hereditary pyropoikilocytosis (OMIM ); and cation permeability disorders of the red cell membrane, or hereditary stomatocytoses, including DHS, OHST, CHC, and PSHK. The authors noted that because there is no specific screening test for the hereditary stomatocytoses, a preliminary diagnosis is based on the presence of a compensated hemolytic anemia, macrocytosis, and a temperature- or time-dependent pseudohyperkalemia in some patients. King et al. (2015) reported the International Council for Standardization in Haematology (ICSH) guidelines for laboratory diagnosis of nonimmune hereditary red cell membrane disorders.

DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1 Is also known as pseudohyperkalemia, familial, 1, due to red cell leak|pshk1|dhs|dehydrated hereditary stomatocytosis|xerocytosis, hereditary|desiccytosis, hereditary|pseudohyperkalemia edinburgh

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM MENDELIAN

More info about DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1

Low match MCLEOD SYNDROME; MCLDS


Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype|neuroacanthocytosis, mcleod type

Related symptoms:

  • Seizures
  • Muscle weakness
  • Cognitive impairment
  • Anemia
  • Peripheral neuropathy


SOURCES: MESH OMIM MENDELIAN

More info about MCLEOD SYNDROME; MCLDS

Low match HEMOPHILIA A; HEMA


Hemophilia A is an X-linked recessive bleeding disorder caused by a deficiency in the activity of coagulation factor VIII. The disorder is clinically heterogeneous with variable severity, depending on the plasma levels of coagulation factor VIII: mild, with levels 6 to 30% of normal; moderate, with levels 2 to 5% of normal; and severe, with levels less than 1% of normal. Patients with mild hemophilia usually bleed excessively only after trauma or surgery, whereas those with severe hemophilia have an annual average of 20 to 30 episodes of spontaneous or excessive bleeding after minor trauma, particularly into joints and muscles. These symptoms differ substantially from those of bleeding disorders due to platelet defects or von Willebrand disease (OMIM ), in which mucosal bleeding predominates (review by Mannucci and Tuddenham, 2001).

HEMOPHILIA A; HEMA Is also known as hemophilia, classic

Related symptoms:

  • Pain
  • Anemia
  • Flexion contracture
  • Peripheral neuropathy
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOPHILIA A; HEMA

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Other less relevant matches:

Low match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY


Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Low match EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY


Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy.

EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY Is also known as epidermolysis bullosa simplex and limb-girdle muscular dystrophy|md-ebs|ebs-md|mdebs|limb-girdle muscular dystrophy with epidermolysis bullosa simplex

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Ptosis
  • Anemia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY

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

Low match KEARNS-SAYRE SYNDROME


Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.

KEARNS-SAYRE SYNDROME Is also known as ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy|cpeo with myopathy|oculocraniosomatic syndrome|ophthalmoplegia, progressive external, with ragged-red fibers|cpeo with ragged-red fibers|chronic progressive external ophthalmoplegia wi

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEARNS-SAYRE SYNDROME

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 AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2R


Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2R Is also known as autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency|lgmd2r

Related symptoms:

  • Muscular dystrophy


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2R

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4; MDDGB4


MDDGB4 is a rare autosomal recessive congenital muscular dystrophy that is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies.' In contrast to most dystroglycanopathies, mental retardation is not a feature of MDDGB4 (Godfrey et al., 2007).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4; MDDGB4 Is also known as muscular dystrophy, congenital, fktn-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Motor delay
  • Elevated serum creatine phosphokinase
  • Muscular dystrophy


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4; MDDGB4

Top 5 symptoms//phenotypes associated to Anemia and Congenital muscular dystrophy

Symptoms // Phenotype % cases
Muscular dystrophy Very Common - Between 80% and 100% cases
Fatigue Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Congenital muscular dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Elevated serum creatine phosphokinase Ataxia Peripheral neuropathy Skeletal muscle atrophy Splenomegaly Short stature Hepatomegaly Cardiomyopathy Intellectual disability Seizures Paralysis Ptosis Ophthalmoplegia Abnormality of mitochondrial metabolism Dilated cardiomyopathy Hearing impairment Ophthalmoparesis Hepatosplenomegaly

Rare Symptoms - Less than 30% cases


Optic atrophy Mitochondrial myopathy Progressive external ophthalmoplegia Increased CSF protein Slender build Abnormality of the mitochondrion Generalized hypotonia Hypogonadism Encephalopathy Blindness Flexion contracture Vertigo Rhabdomyolysis Sensory neuropathy EMG abnormality Cardiomegaly Poor appetite Limb muscle weakness Proximal muscle weakness Ragged-red muscle fibers Lactic acidosis Dementia Dysphagia Sensorineural hearing impairment External ophthalmoplegia Leukoencephalopathy Left ventricular hypertrophy Bilateral ptosis Ventricular hypertrophy Carious teeth Easy fatigability Facial palsy Cachexia Aphasia Muscle cramps Rod-cone dystrophy Acidosis Hyperbilirubinemia Areflexia Cognitive impairment Dysarthria Elevated hepatic transaminase Reticulocytosis Depressivity Arrhythmia Thromboembolism Jaundice Pneumonia Hemolytic anemia Myoclonus Abnormality of the liver Memory impairment Atrioventricular block Ventricular arrhythmia Reduced tendon reflexes Abnormality of retinal pigmentation Cerebral calcification Pigmentary retinopathy Syncope Growth hormone deficiency Fever Edema Nyctalopia Retinopathy Hypothyroidism Reduced visual acuity Incoordination Nasal speech Respiratory failure Heart block Anterior hypopituitarism Stroke-like episode Gait imbalance Severe lactic acidosis Hypomagnesemia Hyperaldosteronism Hypoparathyroidism Hemiplegia/hemiparesis Exocrine pancreatic insufficiency Primary adrenal insufficiency Renal tubular acidosis Basal ganglia calcification Bundle branch block Adrenal insufficiency Diabetes mellitus Dehydration Severe short stature Intestinal pseudo-obstruction Decreased sensory nerve conduction velocity Macrovesicular hepatic steatosis Cytochrome C oxidase-negative muscle fibers Gastroparesis Intermittent diarrhea Hyperalaninemia Abnormality of the vasculature Multiple mitochondrial DNA deletions Decreased number of large peripheral myelinated nerve fibers Pallor Skeletal myopathy Gastrointestinal dysmotility Demyelinating peripheral neuropathy Absent Achilles reflex Diffuse leukoencephalopathy Subsarcolemmal accumulations of abnormally shaped mitochondria Hepatitis Muscular hypotonia Abnormality of the gastrointestinal tract Cerebellar hypoplasia Delayed skeletal maturation Hyporeflexia Congestive heart failure Muscle fiber atrophy Nystagmus Intestinal perforation Microcephaly Ascites Small intestinal dysmotility Abnormality of the extraocular muscles Abnormal cell morphology Atrophic muscularis propria Hypointensity of cerebral white matter on MRI Titubation Adrenocorticotropin deficient adrenal insufficiency Sideroblastic anemia Abnormality of the skull Extramedullary hematopoiesis Abnormality of femur morphology Abnormality of tibia morphology Facial paralysis Abnormality of the ulna Raynaud phenomenon Gangrene Aplasia/Hypoplasia of the radius Abnormality of the humerus Abnormality of the vertebral column Metaphyseal dysplasia Elevated erythrocyte sedimentation rate Reduced subcutaneous adipose tissue Hyperostosis Abnormality of pelvic girdle bone morphology Tinnitus Otosclerosis Urinary retention Leukopenia Optic nerve compression Generalized muscle weakness Motor delay Elevated aldolase level Abnormal subcutaneous fat tissue distribution Cortical thickening of long bone diaphyses Cortical sclerosis Craniofacial osteosclerosis Diaphyseal dysplasia Abnormal diaphysis morphology Diaphyseal sclerosis Cranial nerve compression Abnormality of the radius Limb pain Cranial hyperostosis Sclerosis of skull base Lower limb pain Increased intracranial pressure Coxa valga First degree atrioventricular block Abnormal facial shape Proptosis Glaucoma Hyperactivity Headache Kyphosis Frontal bossing Gait disturbance Scoliosis Skeletal dysplasia Low CSF 5-methyltetrahydrofolate Progressive intervertebral space narrowing Second degree atrioventricular block Third degree atrioventricular block Axonal degeneration Folate deficiency Renal Fanconi syndrome Mandibular prognathia Pes planus Vasculitis Limitation of joint mobility Bone marrow hypocellularity Increased bone mineral density Bone pain Diplopia Anorexia Lumbar hyperlordosis Waddling gait Delayed eruption of teeth Difficulty walking Genu valgum Delayed puberty Neurological speech impairment Hyperlordosis Feeding difficulties in infancy Hypertrophic cardiomyopathy Abnormality of the nervous system Scleroderma Anxiety Difficulty climbing stairs Myalgia Tetraparesis Migraine Increased mean corpuscular hemoglobin concentration Retinal dystrophy Increased intracellular sodium Mental deterioration Exercise-induced hemolysis Purpura Visual loss Increased red cell hemolysis by shear stress Renal insufficiency Brachydactyly Delayed speech and language development High palate Global developmental delay Exercise intolerance Spastic tetraparesis Splenic rupture Exercise-induced muscle cramps Papule Scarring Schistocytosis Alopecia Pyropoikilocytosis Growth delay Exercise-induced myoglobinuria Recurrent myoglobinuria Hemiplegia Increased muscle fatiguability Decreased mean corpuscular volume Myoglobinuria Progressive encephalopathy Acute kidney injury Recurrent thromboembolism Emotional lability Behavioral abnormality Bleeding with minor or no trauma Hypotrichosis Motor axonal neuropathy Dystonia Phonic tics Abetalipoproteinemia Personality disorder Tics Acanthocytosis Aspiration pneumonia Arthritis Abnormality of the musculature Obsessive-compulsive behavior Aspiration Atrial fibrillation Generalized-onset seizure Chorea Dyskinesia Arthralgia Stroke Oral cavity bleeding Prolonged partial thromboplastin time Intramuscular hematoma Persistent bleeding after trauma Intraventricular hemorrhage Reduced factor VIII activity Spontaneous hematomas Joint hemorrhage Stomatitis Dyschromatopsia Bruising susceptibility Abnormality of the elbow Joint swelling Arthropathy Intracranial hemorrhage Osteoarthritis Gastrointestinal hemorrhage Hematuria Nail dystrophy Compensated hemolytic anemia Decreased muscle mass Malabsorption Cirrhosis Nausea Peripheral axonal neuropathy Paresthesia Abnormality of eye movement Increased serum ferritin Abnormality of the cerebral white matter Distal sensory impairment Distal muscle weakness Esophageal varix Gastroesophageal reflux Generalized edema Weight loss Abdominal pain Spherocytosis Distal amyotrophy Polyneuropathy Diarrhea Hyperkalemia Malnutrition Decreased motor nerve conduction velocity Ichthyosis Abnormality of the hand Cholelithiasis Polycystic ovaries Limb-girdle muscular dystrophy Pericardial effusion Abdominal distention Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Foot dorsiflexor weakness Sensorimotor neuropathy Leukodystrophy Chronic diarrhea Peripheral demyelination Constipation Vomiting Portal vein thrombosis Ventricular tachycardia Keratitis Neonatal respiratory distress Stomatocytosis Hemoglobinuria Dermal atrophy Palmoplantar hyperkeratosis Mutism Abnormality of dental enamel Milia Progressive muscle weakness Antiphospholipid antibody positivity Hypoplasia of dental enamel Chronic hemolytic anemia Abnormal blistering of the skin Nail dysplasia Tachycardia Dysphasia Skin vesicle Elliptocytosis Scarring alopecia of scalp Gastritis Intermittent jaundice Punctate keratitis Decreased miniature endplate potentials Urethral stricture Muscle flaccidity Hyperconvex fingernails Oculomotor nerve palsy Aplasia/Hypoplasia of the skin Increased connective tissue Hypoplastic fingernail Echolalia Nemaline bodies Severe postnatal growth retardation Lipoma Fatigable weakness



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