Muscle weakness, and Nephritis

Diseases related with Muscle weakness and Nephritis

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

Top matches:

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also been associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E Is also known as cmtdie|charcot-marie-tooth disease-nephropathy syndrome|charcot-marie-tooth neuropathy with focal segmental glomerulonephritis

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Fever
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E

COMPLEMENT COMPONENT 2 DEFICIENCY; C2D Is also known as c2 deficiency

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Immunodeficiency
  • Recurrent infections
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 2 DEFICIENCY; C2D

PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME Is also known as cerebrorenal syndrome, perez type

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Strabismus
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME

Other less relevant matches:

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

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

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). Genetic Heterogeneity of Bartter SyndromeAntenatal Bartter syndrome type 1 (OMIM ) is caused by loss-of-function mutations in the butmetanide-sensitive Na-K-2Cl cotransporter NKCC2 (SLC12A1 ). Antenatal Bartter syndrome type 2 (OMIM ) is caused by loss-of-function mutations in the ATP-sensitive potassium channel ROMK (KCNJ1 ). One form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4A (OMIM ), is caused by mutation in the BSND gene (OMIM ). Another form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4B (OMIM ), is caused by simultaneous mutation in both the CLCNKA (602024) and CLCNKB (602023) genes.Also see autosomal dominant hypocalcemia-1 with Bartter syndrome (OMIM ), which is sometimes referred to as Bartter syndrome type 5 (Fremont and Chan, 2012), caused by mutation in the CASR gene (OMIM ).See Gitelman syndrome (GTLMN ), which is often referred to as a mild variant of Bartter syndrome, caused by mutation in the thiazide-sensitive sodium-chloride cotransporter SLC12A3 (OMIM ).

BARTTER SYNDROME, TYPE 3; BARTS3 Is also known as bartter syndrome, classic

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 3; BARTS3

Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.

LYSINURIC PROTEIN INTOLERANCE Is also known as lpi|hyperdibasic aminoaciduria type 2|dibasic amino aciduria ii

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LYSINURIC PROTEIN INTOLERANCE

Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 DeficiencySee also COQ10D2 (OMIM ), caused by mutation in the PDSS1 gene (OMIM ) on chromosome 10p12; COQ10D3 (OMIM ), caused by mutation in the PDSS2 gene (OMIM ) on chromosome 6q21; COQ10D4 (OMIM ), caused by mutation in the COQ8 gene (ADCK3 ) on chromosome 1q42; COQ10D5 (OMIM ), caused by mutation in the COQ9 gene (OMIM ) on chromosome 16q21; COQ10D6 (OMIM ), caused by mutation in the COQ6 gene (OMIM ) on chromosome 14q24; COQ10D7 (OMIM ), caused by mutation in the COQ4 gene (OMIM ) on chromosome 9q34; and COQ10D8 (OMIM ), caused by mutation in the COQ7 gene (OMIM ) on chromosome 16p13.Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD ), caused by mutation in the ETFDH gene (OMIM ) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1 ), caused by mutation in the APTX gene (OMIM ) on chromosome 9p13.

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 Is also known as ubiquinone deficiency 1|coq10 deficiency, primary, 1|coq deficiency 1|coenzyme q deficiency 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).

ISOLATED COMPLEX III DEFICIENCY Is also known as isolated coq-cytochrome c reductase deficiency|isolated ubiquinone-cytochrome c reductase deficiency|isolated mitochondrial respiratory chain complex iii deficiency|isolated coenzyme q-cytochrome c reductase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED COMPLEX III DEFICIENCY

Low match CYSTINURIA

Cystinuria is an autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure (summary by Barbosa et al., 2012).

CYSTINURIA Is also known as cystinuria, type non-i, formerly|cystinuria, type i, formerly|cystinuria, type iii, formerly|csnu1, formerly|csnu|csnu3, formerly|cystinuria, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Pain
  • Renal insufficiency
  • Abnormality of the nervous system
  • Nausea


SOURCES: ORPHANET OMIM MENDELIAN

More info about CYSTINURIA

Top 5 symptoms//phenotypes associated to Muscle weakness and Nephritis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Glomerulonephritis Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Skeletal muscle atrophy Sensorineural hearing impairment Cognitive impairment Recurrent infections Ataxia Muscular hypotonia of the trunk Nephropathy Growth delay Seizures Cardiomyopathy Pyelonephritis Global developmental delay Muscular hypotonia Spasticity Encephalopathy Short stature Vomiting Aminoaciduria Acidosis Aciduria Immunodeficiency Metabolic acidosis Hypertension Stage 5 chronic kidney disease

Rare Symptoms - Less than 30% cases

Elevated hepatic transaminase Progressive muscle weakness Lymphadenopathy Hyperreflexia Cataract Nystagmus Elevated serum creatine phosphokinase Cerebellar atrophy Argininuria Myopathy Frequent falls Ornithinuria Glomerulosclerosis Scoliosis Coma Visual loss Cerebral atrophy Small for gestational age Pain Lactic acidosis Proteinuria Exercise intolerance Ragged-red muscle fibers Hypocalcemia Muscle cramps Tubulointerstitial nephritis Myoglobinuria Hypertrophic cardiomyopathy Thrombocytopenia Diarrhea Falls Abnormal facial shape Rod-cone dystrophy Hyperechogenic kidneys Hepatomegaly Hyperkalemia Difficulty walking Postural instability Nausea Arthritis Increased serum lactate Fever Systemic lupus erythematosus Feeding difficulties Anemia Hyperextensible skin Focal segmental glomerulosclerosis Ptosis Glomerulopathy Abnormality of the coagulation cascade Hepatic failure Oculomotor apraxia Developmental regression Apraxia Hyperlysinuria Stroke Flank pain Psychotic episodes Abnormal pyramidal sign Hypocalcemic tetany Fine hair Cystinuria Alveolar proteinosis Pancreatitis Brain atrophy Oroticaciduria Joint hyperflexibility Abnormal bleeding Protein avoidance Tetany Respiratory failure Increased serum ferritin Leukopenia Fatigue Hemophagocytosis Motor delay Truncal obesity Dysarthria Malnutrition Optic atrophy Gait disturbance Respiratory distress Hypogonadism Micronodular cirrhosis Pulmonary hemorrhage Intellectual disability, mild Progressive cerebellar ataxia Hyperammonemia Myoclonus Asterixis Cutis laxa Scanning speech Memory impairment Decreased liver function Congenital cataract Sensory neuropathy Delayed myelination Pigmentary retinopathy Cardiomegaly Tetraparesis Hypertrichosis Hematuria Cholestasis Abnormality of the nervous system Hallucinations Postterm pregnancy Decreased mitochondrial complex III activity in liver tissue Severe muscular hypotonia Feeding difficulties in infancy Spastic tetraparesis Brittle hair Emotional lability Glycosuria Rhabdomyolysis Hyperphosphaturia Cholangitis Proximal tubulopathy Microvesicular hepatic steatosis Abnormality of the abdominal wall Food intolerance Persistent lactic acidosis Mitochondrial encephalopathy Retinopathy Recurrent urinary tract infections Specific learning disability Acute kidney injury Bilateral sensorineural hearing impairment Nephrotic syndrome Pancytopenia Status epilepticus Progressive neurologic deterioration Hypergonadotropic hypogonadism Failure to thrive in infancy Ophthalmoparesis Generalized amyotrophy Tubular atrophy Histiocytoid cardiomyopathy Steroid-resistant nephrotic syndrome Glutaric aciduria Hyperuricemia Hypoglycemia Hyperparathyroidism Recurrent myoglobinuria Exercise-induced myoglobinuria Nephrolithiasis Crescentic glomerulonephritis Microcephaly Epicanthus Peripheral neuropathy Blindness Hypertonia Depressivity Dementia Coarse facial features EEG abnormality Rapid neurologic deterioration Increased circulating renin level Recurrent fractures Abnormality of the liver Abnormality of eye movement Dyskinesia Choreoathetosis Amblyopia Truncal ataxia Limb hypertonia Loss of speech Camptocormia Congestive heart failure Hepatosplenomegaly Proximal muscle weakness Myalgia Dilated cardiomyopathy Dystonia Eczema Psoriasiform dermatitis Leukocytosis Progressive proximal muscle weakness Severe failure to thrive Recurrent pharyngitis Gastrointestinal inflammation Pharyngitis Talipes equinovarus Pectus excavatum Pneumonia Dry skin Neutropenia Abnormality of the eye Strabismus Ectodermal dysplasia Distal lower limb amyotrophy Areflexia Hyporeflexia Pes cavus Distal muscle weakness Distal amyotrophy Distal sensory impairment Sensory impairment Split hand Foot dorsiflexor weakness Hammertoe Steppage gait Axonal loss Onion bulb formation Mild proteinuria Vasculitis in the skin Distal upper limb amyotrophy Arthralgia Autoimmunity Skin rash Leukemia Vasculitis Purpura Rheumatoid arthritis Fatigable weakness Antinuclear antibody positivity Membranoproliferative glomerulonephritis Angioedema Discoid lupus rash Sepsis Chronic diarrhea Cirrhosis Hyperchloriduria Alkalosis Chondrocalcinosis Abnormality of the retinal vasculature Metabolic alkalosis Respiratory arrest Hypocalciuria Hypokalemic metabolic alkalosis Hypokalemic alkalosis Abnormal choroid morphology Azotemia Increased urinary potassium Renal potassium wasting Hyperactive renin-angiotensin system Abnormal sclera morphology Hypomagnesemia Secondary hyperaldosteronism Impaired reabsorption of chloride Abnormality of prostaglandin metabolism Respiratory insufficiency Intellectual disability, severe Splenomegaly Delayed skeletal maturation Osteoporosis Osteopenia Jaundice Sparse hair Malabsorption Nausea and vomiting Renal salt wasting Hyperphosphatemia Respiratory insufficiency due to muscle weakness Tachycardia Encephalitis Gowers sign Anhidrosis Episodic fever Amelogenesis imperfecta Progressive encephalopathy Heat intolerance Stomatitis Recurrent aphthous stomatitis Hypoplasia of the thymus Protracted diarrhea Edema Polyhydramnios Generalized muscle weakness Hyperaldosteronism Chest pain Premature birth Growth hormone deficiency Hypotension Dehydration Anorexia Nephrocalcinosis Hypokalemia Hypercalciuria Hypercalcemia Rickets Polyuria Polycythemia Abnormality of amino acid metabolism


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