Hepatomegaly, and Limb-girdle muscular dystrophy

Diseases related with Hepatomegaly and Limb-girdle muscular dystrophy

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

Top matches:

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

GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

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

Other less relevant matches:

Familial partial lipodystrophy-6 (FPLD6) is characterized by abnormal subcutaneous fat distribution, with variable excess accumulation of fat in the face, neck, shoulders, axillae, back, abdomen, and pubic region, and reduction in subcutaneous fat of the lower extremities. Progressive adult-onset myopathy is seen in some patients, and there is variable association with diabetes, hypertriglyceridemia, low high-density lipoprotein (HDL) cholesterol, and hepatic steatosis (Zolotov et al., 2017).

LIPE-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as fpld6|lipe-related fpld|lipodystrophy, familial partial, associated with lipe mutations

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Skeletal muscle atrophy
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: OMIM ORPHANET MENDELIAN

More info about LIPE-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

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

Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the phagocyte NADPH oxidase (phox) complex, which generates the microbicidal 'respiratory burst' (reviewed by Dinauer et al., 2001 and Johnston, 2001). Genetic Heterogeneity of Chronic Granulomatous DiseaseChronic granulomatous disease can be caused by mutations in any 1 of 5 genes encoding structural or regulatory subunits of the phagocyte NADPH oxidase complex. See also autosomal recessive cytochrome b-negative CGD (OMIM ), caused by mutation in the CYBA gene (OMIM ); autosomal recessive cytochrome b-positive CGD type I (OMIM ), caused by mutation in the NCF1 gene (OMIM ); autosomal recessive cytochrome b-positive CGD II (OMIM ), caused by mutation in the NCF2 gene (OMIM ); and autosomal recessive cytochrome b-positive CGD type III (OMIM ), caused by mutation in the NCF4 gene (OMIM ).A similar syndrome, termed neutrophil immunodeficiency syndrome (OMIM ), is caused by mutation in another protein involved in the NADPH oxidase complex, RAC2 (OMIM ).

GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX Is also known as cytochrome b-negative granulomatous disease, chronic, x-linked|cgd|chronic granulomatous disease, x-linked

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM MENDELIAN

More info about GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX

CHANARIN-DORFMAN SYNDROME; CDS Is also known as neutral lipid storage disease with ichthyosis|dcs|nlsdi|triglyceride storage disease with impaired long-chain fatty acid oxidation|dorfman-chanarin syndrome|chanarin-dorfman disease|ichthyosiform erythroderma with leukocyte vacuolation|ichthyotic neutral

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHANARIN-DORFMAN SYNDROME; CDS

Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

RIGID SPINE SYNDROME Is also known as minicore myopathy, severe classic form|mdrs1|desmin-related myopathy with mallory bodies|multiminicore disease, severe classic form|myopathy, sepn1-related|rigid spine syndrome|muscular dystrophy, congenital, eichsfeld type|rigid spine congenital muscular

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about RIGID SPINE SYNDROME

Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).

GLYCOGEN STORAGE DISEASE II; GSD2 Is also known as amd|cardiomegalia glycogenica diffusa|alpha-1,4-glucosidase deficiency|gaa deficiency|acid maltase deficiency|pompe disease|glycogenosis, generalized, cardiac form|acid alpha-glucosidase deficiency|gsd ii

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE II; GSD2

Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

Top 5 symptoms//phenotypes associated to Hepatomegaly and Limb-girdle muscular dystrophy

Symptoms // Phenotype % cases
Muscular dystrophy Very Common - Between 80% and 100% cases
Myopathy Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Proximal muscle weakness Common - Between 50% and 80% cases
Splenomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Limb-girdle muscular dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Hepatosplenomegaly Elevated serum creatine phosphokinase Skeletal muscle atrophy Failure to thrive Global developmental delay Scoliosis Hepatic steatosis Hyperlordosis Cardiomyopathy Congestive heart failure Areflexia Difficulty walking Muscular hypotonia Arrhythmia Ventricular hypertrophy Pneumonia Generalized muscle weakness Myalgia Flexion contracture Aspiration Hypertension Hyporeflexia Intellectual disability Abnormality of the liver Fever Feeding difficulties Fatigue Waddling gait Progressive proximal muscle weakness Edema Respiratory failure Seizures Limb muscle weakness Elevated hepatic transaminase Short stature

Rare Symptoms - Less than 30% cases

Dysarthria Growth delay Ataxia Strabismus Pain Gait disturbance Cataract Motor delay EMG abnormality Anemia Dystonia Loss of subcutaneous adipose tissue in limbs Diabetes mellitus Acanthosis nigricans Hyperlipidemia Abnormal levels of creatine kinase in blood Polycystic ovaries Lipodystrophy Reduced subcutaneous adipose tissue Osteopenia Atherosclerosis Delayed gross motor development Gowers sign Atrial fibrillation Dilatation Scapular winging Dysphagia Generalized-onset seizure Chorea Cognitive impairment Ptosis EEG abnormality Constipation Cardiomegaly Ichthyosis Hypertriglyceridemia Exertional dyspnea Spinal rigidity Rigidity Neonatal hypotonia Difficulty climbing stairs Generalized edema Progressive muscle weakness Esophageal varix Nasal speech Increased variability in muscle fiber diameter Peripheral neuropathy Talipes equinovarus Dyspnea Respiratory insufficiency Arthrogryposis multiplex congenita Dilated cardiomyopathy Recurrent infections Hearing impairment Sudden cardiac death Exercise intolerance Insulin resistance Ascites Gastroesophageal reflux Microtia Type 1 and type 2 muscle fiber minicore regions High palate Abnormality on pulmonary function testing Cardiac conduction abnormality Everted lower lip vermilion Generalized ichthyosis Headache Congenital nonbullous ichthyosiform erythroderma Decreased plasma carnitine Acidosis Aortic regurgitation Subcapsular cataract Scaling skin Ectropion Hypoglycemia Abnormality of metabolism/homeostasis Erythroderma Abnormality of blood and blood-forming tissues Congenital ichthyosiform erythroderma Recurrent respiratory infections Abnormality of skeletal morphology Cough Limited neck flexion Generalized amyotrophy Restrictive deficit on pulmonary function testing Abnormality of the rib cage Cor pulmonale Thoracolumbar scoliosis Axial muscle weakness Malignant hyperthermia Hypoventilation Neck muscle weakness Hip contracture Respiratory arrest Reduced vital capacity Peroneal muscle atrophy Hamstring contractures Muscle fiber necrosis High pitched voice Congenital muscular dystrophy Nocturnal hypoventilation Poor head control Orthopnea Elbow flexion contracture Crackles Abnormality of the cerebral white matter Apnea Facial palsy Minicore myopathy Right ventricular hypertrophy Abnormal CNS myelination Conductive hearing impairment Hyperinsulinemia Lipoatrophy Prolonged QT interval Mildly elevated creatine phosphokinase Cutis marmorata Skeletal muscle hypertrophy Ventricular fibrillation Failure to thrive in infancy Prominent supraorbital ridges IgA deficiency Pyloric stenosis Ventricular arrhythmia Reduced bone mineral density Ventricular tachycardia Pancreatitis Accelerated skeletal maturation Recurrent bacterial infections Pointed chin Secondary amenorrhea Protuberant abdomen Bradycardia Atlantoaxial instability Muscle mounding Abnormality of skeletal muscle fiber size Cervical spine instability Generalized muscle hypertrophy Prominent umbilicus Abnormality of upper lip Congenital generalized lipodystrophy Polymorphic ventricular tachycardia Supraventricular tachycardia Fasting hyperinsulinemia Dysmenorrhea Atlantoaxial dislocation Prolonged QTc interval Generalized lipodystrophy Ileus Exercise-induced myalgia Prominent superficial veins Muscle stiffness Sparse and thin eyebrow Hypertrophic cardiomyopathy Atrioventricular block Pelvic girdle muscle weakness Stroke-like episode Wolff-Parkinson-White syndrome Dilatation of the cerebral artery Difficulty running Dysphasia Emphysema Respiratory insufficiency due to muscle weakness Increased muscle fatiguability Macular degeneration Type II diabetes mellitus Abnormality of the cardiovascular system Peripheral demyelination Urinary incontinence Macroglossia Stroke Paralysis Diaphragmatic paralysis Abdominal wall muscle weakness Long eyelashes Distal muscle weakness Thin skin Palpitations Epidermal acanthosis Growth hormone deficiency Hirsutism Tachycardia Spastic paraplegia Joint stiffness Shortened PR interval Protruding ear Postnatal growth retardation Hypothyroidism Osteoporosis Delayed skeletal maturation Vomiting Abnormality of the skeletal system Firm muscles Alopecia Personality disorder Sensorineural hearing impairment Myopia Brachycephaly Absent speech Cerebral atrophy Cerebellar atrophy Tremor Intrauterine growth retardation Delayed speech and language development Hyperkeratosis Spasticity Microcephaly Limb joint contracture Tubulointerstitial fibrosis Fetal akinesia sequence Myopathic facies Akinesia Cerebral cortical atrophy Attention deficit hyperactivity disorder Reduced tendon reflexes Hip dysplasia Impulsivity CNS hypomyelination Infantile muscular hypotonia Truncal ataxia Lower limb spasticity Apraxia Focal-onset seizure Generalized tonic-clonic seizures Muscle cramps Inability to walk Unsteady gait Abnormality of movement Poor speech Carious teeth Congenital cataract Portal hypertension Decreased liver function Adrenal insufficiency Pericardial effusion Gastritis Elliptocytosis Spherocytosis Increased serum ferritin Reticulocytosis Thromboembolism Hyperkalemia Stomatocytosis Cholelithiasis Hyperbilirubinemia Hepatitis Dehydration Hemolytic anemia Pallor Jaundice Intermittent jaundice Hemoglobinuria Hepatic fibrosis Exercise-induced hemolysis Hydrops fetalis Decreased fetal movement Hepatic failure Cirrhosis Polyhydramnios Increased red cell hemolysis by shear stress Increased intracellular sodium Antiphospholipid antibody positivity Increased mean corpuscular hemoglobin concentration Recurrent thromboembolism Pyropoikilocytosis Schistocytosis Compensated hemolytic anemia Portal vein thrombosis Chronic hemolytic anemia Athetosis Restrictive ventilatory defect Nystagmus Osteomyelitis Peritonitis Pulmonary infiltrates Cellulitis Colitis Increased antibody level in blood Pulmonary fibrosis Intestinal obstruction Eczematoid dermatitis Glomerulonephritis Recurrent skin infections Recurrent pneumonia Inflammatory abnormality of the skin Sepsis Lymphadenopathy Carcinoma Granulomatosis Recurrent bacterial skin infections Immunodeficiency Bladder carcinoma Deficiency or absence of cytochrome b(-245) Recurrent Burkholderia cepacia infections Negative nitroblue tetrazolium reduction test Absence of bactericidal oxidative respiratory burst in phagocytes Recurrent E. coli infections Recurrent Serratia marcescens infections Recurrent Klebsiella infections Rectal abscess Recurrent Aspergillus infections Decreased activity of NADPH oxidase Recurrent Staphylococcus aureus infections Lymphadenitis Discoid lupus rash Liver abscess Chorioretinitis Thrombocytopenia Phonic tics Esophagitis Exophoria Abdominal obesity Proximal muscle weakness in lower limbs Menstrual irregularities Oligomenorrhea Insulin-resistant diabetes mellitus Abnormality of lipid metabolism Cerebral white matter atrophy Decreased serum leptin Intellectual disability, borderline Right ventricular dilatation Alacrima Muscle fiber atrophy Recurrent ear infections Speech apraxia Achalasia Proximal muscle weakness in upper limbs Increased adipose tissue around the neck Abetalipoproteinemia Dyskinesia Tics Acanthocytosis Motor axonal neuropathy Aspiration pneumonia Rhabdomyolysis Abnormality of the musculature Obsessive-compulsive behavior Anxiety Loss of gluteal subcutaneous adipose tissue Myoclonus Depressivity Behavioral abnormality Abnormality of the labia majora Decreased adiponectin level Marked muscular hypertrophy Increased intraabdominal fat Adipose tissue loss


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