Myopathy, and Ascites

Diseases related with Myopathy and Ascites

In the following list you will find some of the most common rare diseases related to Myopathy and Ascites that can help you solving undiagnosed cases.

Top matches:

Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.

ACUTE INFANTILE LIVER FAILURE DUE TO SYNTHESIS DEFECT OF MTDNA-ENCODED PROTEINS Is also known as acute infantile liver failure due to synthesis defect of mitochondrial dna-encoded proteins

Related symptoms:

  • Generalized hypotonia
  • Feeding difficulties
  • Hepatomegaly
  • Myopathy
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE DUE TO SYNTHESIS DEFECT OF MTDNA-ENCODED PROTEINS

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1 Is also known as rcm

Related symptoms:

  • Muscle weakness
  • Ventricular septal defect
  • Ventriculomegaly
  • Cardiomyopathy
  • Edema


SOURCES: MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1

FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE Is also known as fatal congenital hypertrophic cardiomyopathy due to glycogenosis|fatal congenital hypertrophic cardiomyopathy due to gsd|phosphorylase kinase deficiency of heart|glycogen storage disease of heart

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE

Other less relevant matches:

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

Mitochondrial DNA depletion syndrome-3 is a severe autosomal recessive disorder characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes (I, III, IV, and V) and mtDNA depletion (Mandel et al., 2001).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM DUE TO DGUOK DEFICIENCY

Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

Medium 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

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Noncirrhotic portal hypertension is an autosomal recessive disorder characterized by onset of portal hypertension associated with hepatosplenomegaly in the first or second decades of life, in the absence of cirrhosis, known extrahepatic diseases, or splanchnic venous thrombosis. Liver function is normal, and the disorder is relatively benign (Vilarinho et al., 2016).

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Myopathy
  • Splenomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET FAMILIAL NONCIRRHOTIC PORTAL HYPERTENSION

Top 5 symptoms//phenotypes associated to Myopathy and Ascites

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Myopathy and Ascites. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Edema Cardiomyopathy Muscular hypotonia Hypertension Splenomegaly Muscle weakness Short stature Abnormality of the coagulation cascade Portal hypertension Hepatic failure Hepatosplenomegaly Elevated hepatic transaminase Feeding difficulties in infancy Nystagmus Hypertrophic cardiomyopathy Abnormality of the liver Esophageal varix Abnormal facial shape Cognitive impairment Congestive heart failure Hypoglycemia Hip dysplasia Growth delay Cerebral atrophy Pulmonic stenosis Inguinal hernia Motor delay Global developmental delay Abnormality of the nervous system Heart murmur Polyhydramnios Thrombocytopenia Cirrhosis Hydrops fetalis Ventricular septal defect Ventriculomegaly

Rare Symptoms - Less than 30% cases

Encephalopathy Posteriorly rotated ears Abnormal heart morphology Hernia Gastroesophageal reflux Joint laxity Low-set, posteriorly rotated ears Cholestasis Postnatal growth retardation Sparse hair Depressed nasal bridge Attention deficit hyperactivity disorder Hypermetropia Astigmatism Joint hypermobility Thick vermilion border Webbed neck Neurodevelopmental delay Hyperpigmentation of the skin Microcephaly Cafe-au-lait spot Lymphedema Poor suck Pectus carinatum Abnormality of cardiovascular system morphology Pectus excavatum Abnormality of the foot Delayed speech and language development Low-set ears Ptosis Macrocephaly Strabismus Hypertelorism Downslanted palpebral fissures Vasculitis Abnormal bleeding Sleep disturbance Cerebral cortical atrophy Epicanthus Pes cavus Dysphagia Gait disturbance Frontal bossing Anteverted nares Dysarthria Short neck Atrial septal defect Long philtrum Failure to thrive in infancy Cryptorchidism Pleural effusion Limb muscle weakness Respiratory distress Talipes equinovarus Skeletal muscle atrophy Peripheral neuropathy Hyperbilirubinemia Mitochondrial myopathy Acute hepatic failure Micrognathia Hypersplenism Hyporeflexia Dyspnea Neonatal hypoglycemia Exercise intolerance Cardiomegaly Cyanosis Pulmonary edema Macroglossia Metabolic acidosis Hypoalbuminemia Proximal muscle weakness Vomiting Jaundice Irritability Lactic acidosis Arthrogryposis multiplex congenita Acidosis Hepatic steatosis Myopia High palate Arrhythmia Scoliosis Absent speech Neoplasm Renal insufficiency High, narrow palate Postural instability Abnormality of the skeletal system Short nose Intellectual disability, mild Delayed skeletal maturation Tetraplegia Hydrocephalus Respiratory insufficiency Sepsis Abnormality of the dentition Hyperhidrosis Severe short stature Osteopenia Delayed puberty Joint hyperflexibility Tachycardia Embryonal rhabdomyosarcoma Apnea Intellectual disability, moderate Carcinoma Coarse facial features Multifocal atrial tachycardia Kyphoscoliosis Osteoporosis Wide nose Abnormality of the subarachnoid space Deep-set nails Hematuria Proptosis Hyperkeratosis Respiratory failure Hypogonadism Wide mouth Intellectual disability Macrocephaly at birth Reduced factor X activity Abnormality of the spleen Monocytosis Gastrointestinal hemorrhage Venous thrombosis Portal fibrosis Broad toe Prominent fingertip pads Chylothorax Hypochromic microcytic anemia B-cell lymphoma Pain Short attention span Hydrocele testis Facial hypotonia Abnormal eyebrow morphology Decreased muscle mass Proximal placement of thumb Overfolded helix Cubitus valgus Abnormality of the thorax Pulmonary lymphangiectasia Arteritis Reduced prothrombin activity Myofiber disarray Neonatal sepsis Juvenile myelomonocytic leukemia Reduced factor XII activity Choroid plexus papilloma Bladder carcinoma Cardiomyocyte hypertrophy Loose anagen hair Vestibular Schwannoma Enlarged cerebellum Hypoplasia of olfactory tract Abnormality of the mediastinum Vitreomacular adhesion Tendon rupture Alveolar rhabdomyosarcoma Lymphangiectasis Congenital neuroblastoma Thickened Achilles tendon Systolic heart murmur Reduced factor IX activity Increased corneal curvature Full cheeks Mitral valve prolapse Nevus Progeroid facial appearance Redundant neck skin Abnormality of the testis Lack of skin elasticity Central apnea Verrucae Large forehead Achilles tendon contracture Thick upper lip vermilion Large earlobe Woolly hair Barrel-shaped chest Deep palmar crease Megalencephaly Fragile nails Duodenal ulcer Ulnar deviation of the wrist Body odor Thickened nuchal skin fold Microscopic hematuria Postprandial hyperglycemia Severe postnatal growth retardation Obstructive sleep apnea Labial hypoplasia Abnormal pulmonary valve morphology Arnold-Chiari type I malformation Broad femoral neck Thin nail Large face Papilloma Deep plantar creases Bronchomalacia Fetal distress Limited elbow movement Hematemesis Abnormality of earlobe Schwannoma Rhabdomyosarcoma Asymmetric septal hypertrophy Hyperextensibility of the finger joints Pneumothorax Melena Concave nail Hypoplasia of teeth Fasting hypoglycemia Triangular mouth Broad philtrum Capillary malformation Bladder neoplasm Abnormal mitral valve morphology Soft skin Syringomyelia Premature birth Long eyelashes Abnormality of the fingernails Short chin Concentric hypertrophic cardiomyopathy Abnormality of dental enamel Transitional cell carcinoma of the bladder Narrow palate Pointed chin Hoarse voice Abnormality of the hair Wide anterior fontanel Ganglioneuroblastoma Cutis laxa Decreased body weight Hypoplasia of dental enamel Frontal hirsutism Atrial fibrillation Thick lower lip vermilion Epidermal acanthosis Apraxia Eczema Overgrowth Abnormality of the skin Growth hormone deficiency Acanthosis nigricans Abnormal dermatoglyphics Central hypotonia Rocker bottom foot Shyness Hypopnea Generalized hyperpigmentation Ulnar deviation of finger Rhabdomyolysis Neuroblastoma Curly hair Keratoconus Reduced subcutaneous adipose tissue Large for gestational age Tricuspid regurgitation Infantile muscular hypotonia Hypoplastic toenails Bilateral cryptorchidism Hyperglycemia Aortic aneurysm Redundant skin Pyloric stenosis Hyperextensible skin Laryngomalacia Relative macrocephaly Arnold-Chiari malformation Hemangioma Tracheomalacia Subcortical dementia Bilateral ptosis Ragged-red muscle fibers Micronodular cirrhosis Generalized aminoaciduria Decreased activity of mitochondrial respiratory chain Episodic vomiting Severe lactic acidosis Hypothermia Severe failure to thrive Progressive external ophthalmoplegia Hyponatremia External ophthalmoplegia Hepatocellular necrosis Aminoaciduria Polyneuropathy Ophthalmoplegia Hyperreflexia Limb joint contracture Tubulointerstitial fibrosis Generalized edema Fetal akinesia sequence Exertional dyspnea Difficulty climbing stairs Periportal fibrosis Abnormal conjugate eye movement Akinesia Small nail Right ventricular hypertrophy Progressive proximal muscle weakness Oligodactyly Aplasia cutis congenita Spastic diplegia Cutis marmorata Patent foramen ovale Ischemic stroke Hyperammonemia Ventricular hypertrophy Depletion of mitochondrial DNA in liver Pulmonary arterial hypertension Coarctation of aorta Abnormality of the cerebral white matter Severe global developmental delay Stroke Abnormal cardiac septum morphology Umbilical hernia Hyperactivity Syndactyly Brachydactyly Myopathic facies Limb-girdle muscular dystrophy Calcinosis Syncope Abnormality of the mitochondrion Skeletal myopathy Endocardial fibroelastosis Myofibrillar myopathy Abnormal myocardium morphology Restrictive cardiomyopathy Myocardial fibrosis Atrioventricular block Eosinophilia Inability to walk Abnormality of cardiovascular system physiology Pneumonia Abnormality of metabolism/homeostasis Dilatation Mitochondrial respiratory chain defects Macrovesicular hepatic steatosis Microvesicular hepatic steatosis Conjugated hyperbilirubinemia Aciduria Increased serum lactate Abdominal distention Abnormal left ventricle morphology Histiocytoid cardiomyopathy Reduced tendon reflexes Flexion contracture Decreased liver function Hepatic fibrosis Decreased fetal movement Waddling gait Sudden cardiac death Dilated cardiomyopathy Muscular dystrophy Hyperlordosis Difficulty walking Shortened PR interval Abnormal ventricular filling Biventricular hypertrophy Sinus bradycardia Myoglobinuria Enlarged kidney Bradycardia Hypotension Myalgia Abnormal mitochondrial number Abnormality of the pulmonary veins Abnormal cardiac atrium morphology Dystrophic toenail Prominent superficial veins Cholelithiasis Mood changes Progressive distal muscular atrophy Hair-pulling Abnormality of urine homeostasis Phonic tics Caudate atrophy Distal upper limb muscle weakness Abnormal erythrocyte morphology Difficulty in tongue movements Abetalipoproteinemia Abnormal urinary color Square-wave jerks Muscle fiber atrophy Dysgraphia Disinhibition Orofacial dyskinesia Tics Acanthocytosis Self-mutilation Protruding tongue Abnormality of the thyroid gland Generalized amyotrophy Progressive choreoathetosis Self-mutilation of tongue and lips due to involuntary movements Self-injurious behavior Wide intermamillary distance Deep philtrum Bicuspid aortic valve Torticollis Bilateral single transverse palmar creases Aortic valve stenosis Mitral regurgitation Fine hair Low posterior hairline Epistaxis Esotropia Optic atrophy Lymphoma Triangular face Highly arched eyebrow Bruising susceptibility Falls Leukemia Broad forehead Macrotia High forehead Prominent forehead Personality changes Abnormality of vision Right ventricular failure Fatigue Weight loss Abdominal pain Dementia Recurrent respiratory infections Elevated serum creatine phosphokinase Areflexia Depressivity Dystonia Behavioral abnormality Tremor Aggressive behavior Cataract Ataxia Right atrial enlargement Calcinosis cutis Chronic hepatic failure Cutis marmorata telangiectatica congenita Prominent scalp veins Portal vein thrombosis Cavernous hemangioma Aplasia cutis congenita of scalp Anxiety Abnormality of the eye Drooling Neurodegeneration EMG abnormality Involuntary movements Progressive neurologic deterioration Psychosis Neuronal loss in central nervous system Memory impairment Chorea Gliosis Parkinsonism Generalized muscle weakness Sensory neuropathy Mental deterioration Dyskinesia Lymphadenopathy Abnormality of movement Abnormality of eye movement Nausea and vomiting Malabsorption Generalized tonic-clonic seizures Neurological speech impairment Pallor Developmental regression Intrahepatic portal vein sclerosis


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