Myopathy, and Hepatitis

Diseases related with Myopathy and Hepatitis

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


Top matches:

Low match PSYCHOMOTOR RETARDATION DUE TO S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY


Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.

PSYCHOMOTOR RETARDATION DUE TO S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY Is also known as hypermethioninemia due to s-adenosylhomocysteine hydrolase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSYCHOMOTOR RETARDATION DUE TO S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY

Low match GLYCOGEN STORAGE DISEASE IA; GSD1A


Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by Lei et al., 1993).

GLYCOGEN STORAGE DISEASE IA; GSD1A Is also known as gsd1|hepatorenal form of glycogen storage disease|hepatorenal glycogenosis|glucose-6-phosphatase deficiency|gsd ia|von gierke disease|glycogen storage disease i

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Neoplasm
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IA; GSD1A

Low match X-LINKED AGAMMAGLOBULINEMIA


X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

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Other less relevant matches:

Low match X-LINKED CENTRONUCLEAR MYOPATHY


X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

X-LINKED CENTRONUCLEAR MYOPATHY Is also known as x-linked myotubular myopathy|myotubular myopathy, x-linked|myotubular myopathy 1|xlmtm|mtmx|xlcnm|mtm1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CENTRONUCLEAR MYOPATHY

Low match MERRF


MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures.

MERRF Is also known as fukuhara syndrome|myoclonus epilepsy associated with ragged-red fibres|merrf syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MERRF

Low match EARLY-ONSET FAMILIAL NONCIRRHOTIC PORTAL HYPERTENSION


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

Low match DISTAL MYOPATHY, WELANDER TYPE


Distal myopathy, Welander type (WDM) is a distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.

DISTAL MYOPATHY, WELANDER TYPE Is also known as wdm

Related symptoms:

  • Myopathy


SOURCES: ORPHANET MENDELIAN

More info about DISTAL MYOPATHY, WELANDER TYPE

Low match ACUTE INFANTILE LIVER FAILURE DUE TO SYNTHESIS DEFECT OF MTDNA-ENCODED PROTEINS


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

Low match CHYLOMICRON RETENTION DISEASE


Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.

CHYLOMICRON RETENTION DISEASE Is also known as crd|anderson disease|cmrd

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Visual impairment
  • Myopathy
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about CHYLOMICRON RETENTION DISEASE

Low match LIPE-RELATED FAMILIAL PARTIAL LIPODYSTROPHY


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

Top 5 symptoms//phenotypes associated to Myopathy and Hepatitis

Symptoms // Phenotype % cases
Hepatic failure Uncommon - Between 30% and 50% cases
Elevated hepatic transaminase Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Hepatic steatosis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Lactic acidosis Acidosis Fatigue Diarrhea Anemia Muscular hypotonia Hypertriglyceridemia Seizures Muscle weakness Short stature Failure to thrive Neoplasm Skeletal muscle atrophy Generalized hypotonia Abnormality of the liver

Rare Symptoms - Less than 30% cases


Hearing impairment Sensorineural hearing impairment Ataxia External ophthalmoplegia Feeding difficulties Abnormality of the coagulation cascade Vomiting Portal hypertension Venous thrombosis Hyperlipidemia Nephrocalcinosis Abdominal distention Depressivity Ophthalmoparesis Dementia EMG abnormality Ophthalmoplegia Retinopathy Global developmental delay Portal fibrosis Dyspnea Mitochondrial myopathy Areflexia Elevated serum creatine phosphokinase EMG: myopathic abnormalities Increased serum lactate Respiratory insufficiency Ptosis Nephrolithiasis Thrombocytopenia Behavioral abnormality Cardiomyopathy Neoplasm of the liver Cognitive impairment Cholestasis Recurrent infections Hypertension Arthritis Edema Respiratory failure Growth delay Metabolic acidosis Abnormal bleeding Neurological speech impairment Developmental regression Decreased serum leptin Generalized tonic-clonic seizures Mental deterioration Abnormality of the cerebral white matter Abnormality of movement Proximal muscle weakness in upper limbs Sensory neuropathy Muscular dystrophy Generalized myoclonic seizures Ragged-red muscle fibers Right bundle branch block Sensory axonal neuropathy Abnormality of mitochondrial metabolism Hyperkinesis Abdominal obesity Delayed gross motor development Ventricular tachycardia Migraine Exercise intolerance Left ventricular hypertrophy Palpitations Status epilepticus Pulmonary arterial hypertension Generalized-onset seizure Hypertrophic cardiomyopathy Loss of subcutaneous adipose tissue in limbs Myoclonus EEG abnormality Marked muscular hypertrophy Diaphragmatic eventration Spherocytosis Head tremor Facial diplegia Hypoventilation Neck muscle weakness Centrally nucleated skeletal muscle fibers Fractures of the long bones Weak cry Decreased adiponectin level Hypokinesia Long fingers Mask-like facies Neonatal respiratory distress Cavernous hemangioma Nocturnal hypoventilation Hypogonadism Loss of gluteal subcutaneous adipose tissue Multiple lipomas Increased adipose tissue around the neck Arrhythmia Hypoplasia of the corpus callosum Tremor Optic atrophy Peripheral neuropathy Premature adrenarche Spasticity Hepatic hemangioma Increased intraabdominal fat Respiratory failure requiring assisted ventilation Birth length greater than 97th percentile Slender toe Mildly elevated creatine phosphokinase Progressive external ophthalmoplegia Muscle fibrillation Feeding difficulties in infancy Hypoalbuminemia Hyperbilirubinemia Aciduria Lipodystrophy Ascites Irritability Jaundice Conjugated hyperbilirubinemia Difficulty climbing stairs Intrahepatic portal vein sclerosis Esophageal varix Gastrointestinal hemorrhage Cirrhosis Hepatosplenomegaly Acute hepatic failure Microvesicular hepatic steatosis Pain Fat malabsorption Proximal muscle weakness Diabetes mellitus Acanthosis nigricans Abnormality of vitamin metabolism Increased hepatocellular lipid droplets Hypocholesterolemia Polycystic ovaries Hypersplenism Impaired proprioception Acanthocytosis Steatorrhea Visual impairment Mitochondrial respiratory chain defects Macrovesicular hepatic steatosis Splenomegaly Basal ganglia necrosis Hyperthyroidism Supraventricular tachycardia Abnormal echocardiogram Right ventricular cardiomyopathy Stroke-like episode Gait imbalance Wolff-Parkinson-White syndrome Increased CSF lactate Abnormality of the endocrine system Decreased activity of mitochondrial respiratory chain Diffuse cerebral atrophy Intrahepatic cholestasis Motor axonal neuropathy Ventricular extrasystoles Insulin resistance Lipoma Increased serum pyruvate Abnormality of brainstem morphology Reduced subcutaneous adipose tissue Abnormality of thalamus morphology Abnormality of lipid metabolism Insulin-resistant diabetes mellitus Global systolic dysfunction Lacticaciduria Oligomenorrhea Weakness of facial musculature Menstrual irregularities Sinus tachycardia EEG with irregular generalized spike and wave complexes EEG with photoparoxysmal response Fatty replacement of skeletal muscle Diffuse cerebellar atrophy Proximal muscle weakness in lower limbs Cytochrome C oxidase-negative muscle fibers Myotonia Facial palsy Pyloric stenosis Xanthelasma Distal renal tubular acidosis Chronic pancreatitis Chronic hepatitis Hepatoblastoma Decreased glomerular filtration rate Intermittent diarrhea Microalbuminuria Doll-like facies Hypoglycemic seizures Pyelonephritis Enterocolitis Skeletal myopathy Fasting hypoglycemia Breathing dysregulation Lipemia retinalis Hepatocellular adenoma Gout Rod-cone dystrophy Sepsis Neutropenia Malabsorption Skin rash Autoimmunity Weight loss Alopecia Hypocitraturia Pneumonia Encephalopathy Dilatation Immunodeficiency Fever Delayed speech and language development Xanthomatosis Enlarged kidney Otitis media Hypertyrosinemia Hypoglycemia Osteopenia Osteoporosis Recurrent respiratory infections Renal insufficiency Hypermethioninemia Poor head control Proteinuria Delayed myelination Abnormality of the dentition Motor delay Abnormal facial shape Strabismus Microcephaly Carcinoma Delayed puberty Hepatocellular carcinoma Glomerulosclerosis Protuberant abdomen Renal tubular acidosis Hyperuricemia Prolonged bleeding time Decreased muscle mass Focal segmental glomerulosclerosis Elevated alkaline phosphatase Nephropathy Hypercalciuria Chronic kidney disease Atherosclerosis Pancreatitis Epistaxis Full cheeks Hematuria Decreased antibody level in blood Abnormal lung morphology Cholelithiasis Midface retrusion Paralysis Apnea Kyphoscoliosis High forehead Polyhydramnios Mandibular prognathia Hydrocephalus Limb muscle weakness Respiratory distress Talipes equinovarus Dysphagia Gait disturbance Macrocephaly Myopia Dolichocephaly Lower limb muscle weakness Flexion contracture Decreased liver function Atrioventricular block Hemangioma Sleep apnea Severe muscular hypotonia Accelerated skeletal maturation Narrow face Progressive muscle weakness Arachnodactyly Decreased fetal movement Hip dysplasia Waddling gait Dental malocclusion Generalized muscle weakness Inability to walk Long face High palate Cryptorchidism Recurrent urinary tract infections Hypocalcemia Rheumatoid arthritis Encephalitis Recurrent skin infections Hypopigmented skin patches Conjunctivitis Recurrent bacterial infections Recurrent pneumonia Osteomyelitis Meningitis Lymphopenia Skin ulcer Sinusitis Telangiectasia Chronic diarrhea Chronic otitis media Cellulitis Scoliosis Septic arthritis Enteroviral hepatitis Enteroviral dermatomyositis syndrome Lymph node hypoplasia Prostatitis Epididymitis Abnormality of the tonsils Recurrent cutaneous abscess formation Bronchitis Pyoderma Thymoma Abnormality of the lymphatic system Myelopathy Cor pulmonale Agammaglobulinemia Glossoptosis Abnormality of the labia majora



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