Myopathy, and Nephritis

Diseases related with Myopathy and Nephritis

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


Top matches:

Medium match XANTHINURIA TYPE I


Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.

XANTHINURIA TYPE I Is also known as xor deficiency|xdh deficiency|xanthine oxidase deficiency|xanthine oxidoreductase deficiency|xanthine dehydrogenase deficiency|xo deficiency

Related symptoms:

  • Myopathy
  • Abnormality of metabolism/homeostasis
  • Hydronephrosis
  • Nephrolithiasis
  • Pyelonephritis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about XANTHINURIA TYPE I

Low match POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1


Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body MyopathySee also PGBM2 (OMIM ), caused by mutation in the GYG1 gene (OMIM ) on chromosome 3q24.

POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 Is also known as polyglucosan body myopathy, early-onset, with or without immunodeficiency|pbmei

Related symptoms:

  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1

Low match ACQUIRED PARTIAL LIPODYSTROPHY


Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.

ACQUIRED PARTIAL LIPODYSTROPHY Is also known as apld, susceptibility to|progressive cephalothoracic lipodystrophy|barraquer-simons syndrome|lipodystrophy, cephalothoracic type|lipodystrophy, partial, progressive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertension
  • Myopathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACQUIRED PARTIAL LIPODYSTROPHY

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Other less relevant matches:

Low match COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY


Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.

COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY Is also known as cid due to orai1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ORAI1 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 WILLIAMS SYNDROME


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Low match GLYCOGEN STORAGE DISEASE DUE TO PHOSPHOGLYCERATE MUTASE DEFICIENCY


Muscle phosphoglycerate mutase deficiency (PGAMD) is a metabolic myopathy characterised by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the muscle biopsy. Serum creatine kinase (CK) levels are increased between episodes of myoglobinuria. Less than 50 cases have been described so far. The disease is due to an anomaly in one of the last steps of glycolysis. The enzymatic defect in PGAMD is caused by mutations in the cDNA coding for the M-isoform of PGAM. Residual PGAM activity in the muscles of patients (2%-6%) is due to activity of the B-isoform. Transmission is autosomal recessive. Differential diagnosis includes muscle phosphorylase deficiency (McArdle disease) and phosphofructokinase deficiency (PFKD) (see these terms).

GLYCOGEN STORAGE DISEASE DUE TO PHOSPHOGLYCERATE MUTASE DEFICIENCY Is also known as glycogenosis due to phosphoglycerate mutase deficiency|myopathy due to phosphoglycerate mutase deficiency|gsd due to phosphoglycerate mutase deficiency|gsd type 10|muscle phosphoglycerate mutase deficiency|pgamm deficiency|gsd x|phosphoglycerate mutase, m

Related symptoms:

  • Pain
  • Myopathy
  • Renal insufficiency
  • Elevated serum creatine phosphokinase
  • Myalgia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO PHOSPHOGLYCERATE MUTASE DEFICIENCY

Low match GLYCOGEN STORAGE DISEASE DUE TO MUSCLE GLYCOGEN PHOSPHORYLASE DEFICIENCY


Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5) , is a severe form of glycogen storage disease characterized by exercise intolerance.

GLYCOGEN STORAGE DISEASE DUE TO MUSCLE GLYCOGEN PHOSPHORYLASE DEFICIENCY Is also known as glycogen storage disease type 5|myophosphorylase deficiency|glycogen storage disease type v|muscle glycogen phosphorylase deficiency|gsd due to muscle glycogen phosphorylase deficiency|mcardle disease|gsd type v|glycogenosis type 5|glycogenosis type v|gsd

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Skeletal muscle atrophy
  • Fatigue


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO MUSCLE GLYCOGEN PHOSPHORYLASE DEFICIENCY

Low match HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1


There are 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP, that are distinguished by the changes in serum potassium levels during paralytic attacks. In contrast to HYPP, myotonia is usually not present in HOKPP (Jurkat-Rott et al., 2000). Hypokalemic periodic paralysis may also occur as a rare complication of thyrotoxicosis (see TTPP1, {188580}), a disorder with a high frequency in individuals of Asian descent (Kung, 2006).

HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1 Is also known as hypokalemic periodic paralysis|hokpp

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Respiratory insufficiency
  • Myopathy
  • Acidosis


SOURCES: OMIM MENDELIAN

More info about HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1

Low match LETHAL INFANTILE MITOCHONDRIAL MYOPATHY


Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.

LETHAL INFANTILE MITOCHONDRIAL MYOPATHY Is also known as limd|limm|lethal infantile mitochondrial disease

Related symptoms:

  • Myopathy
  • Lactic acidosis
  • Lethal infantile mitochondrial myopathy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LETHAL INFANTILE MITOCHONDRIAL MYOPATHY

Top 5 symptoms//phenotypes associated to Myopathy and Nephritis

Symptoms // Phenotype % cases
Recurrent infections Uncommon - Between 30% and 50% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Pyelonephritis Hypertension Myalgia Muscular hypotonia Growth delay Failure to thrive Nephrolithiasis Proteinuria Pain Generalized hypotonia Immunodeficiency

Rare Symptoms - Less than 30% cases


Muscle cramps Polycystic ovaries Myoglobinuria Exercise intolerance Rhabdomyolysis Abnormality of lipid metabolism Hypertriglyceridemia Exercise-induced myalgia Hematuria Renal tubular acidosis Portal hypertension Spasticity Paralysis Hypercalciuria Global developmental delay Abnormal facial shape Nephrocalcinosis Diarrhea Pectus excavatum Full cheeks Lactic acidosis Osteopenia Acidosis Osteoporosis Recurrent respiratory infections Cognitive impairment Exercise-induced muscle cramps Nephropathy Arthralgia Progressive muscle weakness Distal renal tubular acidosis Scoliosis Ptosis Hepatomegaly Congestive heart failure Abnormality of the cardiovascular system Elevated hepatic transaminase Diabetes mellitus Flexion contracture Lymphadenopathy Short stature Hearing impairment Intellectual disability Premature graying of hair Dysphonia Chronic otitis media Abnormality of the voice High hypermetropia Precocious puberty Radioulnar synostosis Hypercalcemia Failure to thrive in infancy Pulmonary artery stenosis Abnormality of the vasculature Patellar dislocation Multiple renal cysts Down-sloping shoulders Redundant skin Celiac disease Cholelithiasis Obsessive-compulsive behavior Unilateral renal agenesis Hallux valgus Glucose intolerance Posterior embryotoxon Arnold-Chiari type I malformation Vertebral segmentation defect Open bite Loss of consciousness Nevus flammeus Polyuria Tracheoesophageal fistula Prematurely aged appearance Hypoplastic toenails Megalocornea Insomnia Restlessness Poor coordination Facial cleft Abnormality of dental morphology Soft skin Increased body weight Incoordination Coarctation of aorta Open mouth Recurrent otitis media Hemiparesis Myocardial infarction Thick lower lip vermilion Small nail Renal hypoplasia Ventricular hypertrophy Type II diabetes mellitus Hypsarrhythmia Cardiomegaly Abnormality of extrapyramidal motor function Abnormal form of the vertebral bodies Hypoplasia of penis Mitral valve prolapse Hypotelorism Narrow forehead Tetralogy of Fallot Dehydration Microdontia Renal agenesis Otitis media Esotropia Dental malocclusion Mitral regurgitation Involuntary movements Abnormality of pelvic girdle bone morphology Cutis laxa Adducted thumb Reduced bone mineral density Arnold-Chiari malformation Schizophrenia Infantile muscular hypotonia Ischemic stroke Sacral dimple Bicuspid aortic valve Widely spaced teeth Progressive hearing impairment Abnormal dermatoglyphics Spina bifida occulta Recurrent urinary tract infections Abnormality of the fingernails Abnormality of dental enamel Hemivertebrae Hypogonadotrophic hypogonadism Pointed chin Blue irides Increased bone mineral density Narrow face Hoarse voice Aortic valve stenosis Gingival overgrowth Amblyopia Vocal cord paralysis Dysgraphia Hypoplasia of the zygomatic bone Abnormality of the diencephalon Stellate iris Dyssynergia Early onset of sexual maturation Overfriendliness Nystagmus-induced head nodding Thyroid hemiagenesis Bilateral vocal cord paralysis Elfin facies Medial flaring of the eyebrow Abnormal carotid artery morphology Descending aorta hypoplasia Paroxysmal bursts of laughter Myxomatous mitral valve degeneration Unilateral renal hypoplasia Calcification of the aorta Impaired visuospatial constructive cognition Supravalvular aortic stenosis Flat cornea Abnormal social behavior Renovascular hypertension Abnormality of the gastric mucosa Functional abnormality of male internal genitalia Vocal cord dysfunction Food intolerance Generalized muscle weakness Primary hyperaldosteronism Periodic hyperkalemic paralysis Episodic flaccid weakness Periodic paralysis Hyperaldosteronism Scleroderma Myotonia Hypokalemia Palpitations Syncope Respiratory insufficiency Atrophy/Degeneration involving the corticospinal tracts Exercise-induced rhabdomyolysis Acute rhabdomyolysis Dark urine Acute kidney injury Muscle stiffness Respiratory failure Fatigue Skeletal muscle atrophy Recurrent myoglobinuria Arteriosclerosis Infantile hypercalcemia Pelvic kidney Chronic constipation Periorbital fullness Rectal prolapse Periorbital edema Peptic ulcer Cystic renal dysplasia Bladder diverticulum Lacrimation abnormality Abnormal renal morphology Subvalvular aortic stenosis Peripheral pulmonary artery stenosis Decreased plasma carnitine Gait imbalance Chest pain Abnormality of refraction Cerebral ischemia Dyslexia Villous atrophy Enuresis Abnormality of the cerebral vasculature Abnormality of the neck Large earlobe Tubulointerstitial nephritis Right ventricular hypertrophy Arterial stenosis Abnormality of nervous system morphology Hyperacusis Abnormality of the ankles Retinal arteriolar tortuosity Coronary artery stenosis Renal artery stenosis Abnormality of the bladder Synostosis of joints Nocturia Obsessive-compulsive trait Aortic arch aneurysm Overriding aorta Tubulointerstitial abnormality Vascular tortuosity Phonophobia Colonic diverticula Renal duplication Aplasia/Hypoplasia of the iris Abnormal endocardium morphology Thyroid hypoplasia Retinal vascular tortuosity Increased nuchal translucency Abnormal glucose tolerance Urethral stenosis Parathyroid hyperplasia Vesicoureteral reflux Craniosynostosis Sudden cardiac death Protracted diarrhea Hepatitis Abnormal bleeding Metabolic acidosis Hepatic failure Delayed puberty Arthritis Carcinoma Hypoglycemia Anemia Neoplasm Hypoplasia of the thymus Hyperlipidemia Recurrent aphthous stomatitis Stomatitis Heat intolerance Progressive encephalopathy Amelogenesis imperfecta Episodic fever Anhidrosis Gowers sign Encephalitis Respiratory insufficiency due to muscle weakness Epistaxis Pancreatitis Chronic diarrhea Gout Intermittent diarrhea Xanthelasma Microalbuminuria Hypoglycemic seizures Enterocolitis Skeletal myopathy Fasting hypoglycemia Breathing dysregulation Neoplasm of the liver Xanthomatosis Enlarged kidney Atherosclerosis Hepatocellular carcinoma Protuberant abdomen Hyperuricemia Prolonged bleeding time Decreased muscle mass Focal segmental glomerulosclerosis Glomerulosclerosis Elevated alkaline phosphatase Chronic kidney disease Venous thrombosis Hypocalcemia Ectodermal dysplasia Hepatoblastoma Eczema Hirsutism Autoimmunity Alopecia Pharyngitis Gastrointestinal inflammation Recurrent pharyngitis Severe failure to thrive Progressive proximal muscle weakness Leukocytosis Psoriasiform dermatitis Dilated cardiomyopathy Nephrotic syndrome Abnormality of the liver Proximal muscle weakness Hepatosplenomegaly Cardiomyopathy Reduced xanthine dehydrogenase activity Xanthine nephrolithiasis Xanthinuria Molybdenum cofactor deficiency Hypouricemia Hydronephrosis Hepatic steatosis Hypertrichosis Sepsis Loss of truncal subcutaneous adipose tissue Neutropenia Dry skin Difficulty walking Pneumonia Encephalopathy Thrombocytopenia Talipes equinovarus Fever Loss of subcutaneous adipose tissue from upper limbs Progressive loss of facial adipose tissue Decreased serum complement C3 Insulin resistance Membranoproliferative glomerulonephritis Lymphocytosis Progeroid facial appearance Microscopic hematuria Glomerulopathy Lipoatrophy Glomerulonephritis Premature ovarian insufficiency Lipodystrophy Generalized hirsutism Decreased glomerular filtration rate Chronic hepatitis Macroglossia Cleft lip Joint stiffness Autistic behavior Protruding ear Irritability Hyperlordosis Developmental regression Feeding difficulties in infancy Abnormality of the kidney Low-set, posteriorly rotated ears Intellectual disability, moderate Hypertrophic cardiomyopathy Abnormality of metabolism/homeostasis Joint laxity Anxiety Pes planus Umbilical hernia Coarse facial features Kyphoscoliosis Macrotia High forehead Gastroesophageal reflux Hypothyroidism Wide mouth Blepharophimosis Micropenis Genu valgum Broad nasal tip Hypodontia Postural instability Sleep disturbance Everted lower lip vermilion Thick vermilion border Oral cleft Dysmetria Smooth philtrum Joint hyperflexibility Malabsorption Scarring Carious teeth Nausea and vomiting Pulmonic stenosis Neurological speech impairment Corneal opacity Small for gestational age Broad forehead Stroke Attention deficit hyperactivity disorder Abnormal cardiac septum morphology Autism Cerebral cortical atrophy Chronic pancreatitis Cryptorchidism Intrauterine growth retardation Myopia Wide nasal bridge Dysarthria Hyperreflexia Epicanthus Depressed nasal bridge Visual impairment Delayed speech and language development Feeding difficulties Cataract Tremor Cleft palate Sensorineural hearing impairment Strabismus Micrognathia Ataxia Microcephaly Hypocitraturia Hepatocellular adenoma Doll-like facies Lipemia retinalis Macrocephaly Gait disturbance Glaucoma Hernia Abdominal pain Cerebellar hypoplasia Constipation Clinodactyly of the 5th finger Delayed skeletal maturation Inguinal hernia Abnormal heart morphology Patent ductus arteriosus Depressivity Obesity Absent speech Ventricular septal defect Midface retrusion Malar flattening Long philtrum Short nose Kyphosis Intellectual disability, mild Behavioral abnormality Hypertonia Abnormality of the dentition Atrial septal defect Respiratory distress Lethal infantile mitochondrial myopathy



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