Muscle weakness, and Renal insufficiency

Diseases related with Muscle weakness and Renal insufficiency

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


Top matches:

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 LIDDLE SYNDROME


Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone.

LIDDLE SYNDROME Is also known as pseudohyperaldosteronism type 1|pseudoaldosteronism

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Fatigue
  • Renal insufficiency
  • Arrhythmia


SOURCES: ORPHANET OMIM MENDELIAN

More info about LIDDLE SYNDROME

Low match FANCONI RENOTUBULAR SYNDROME 2; FRTS2


Related symptoms:

  • Short stature
  • Muscle weakness
  • Pain
  • Renal insufficiency
  • Acidosis


SOURCES: OMIM MENDELIAN

More info about FANCONI RENOTUBULAR SYNDROME 2; FRTS2

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE


Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. Onset is usually in early childhood under the age of 5 years. Unlike the exercise-induced rhabdomyolyses such as McArdle syndrome (OMIM ), carnitine palmitoyltransferase deficiency (see {255110}), and the Creteil variety of phosphoglycerate kinase deficiency (OMIM ), the attacks in recurrent myoglobinuria no relation to exercise, but are triggered by intercurrent illnesses, commonly upper respiratory tract infections. (Ramesh and Gardner-Medwin, 1992).See {160010} for discussion of a possible autosomal dominant form of myglobinuria.Severe rhabdomyolysis is a major clinical feature of anesthetic-induced malignant hyperthermia (OMIM ), an autosomal dominant disorder.

MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE Is also known as rhabdomyolysis, acute recurrent|myoglobinuria, familial paroxysmal paralytic

Related symptoms:

  • Muscle weakness
  • Pain
  • Fever
  • Renal insufficiency
  • Areflexia


SOURCES: OMIM MESH MENDELIAN

More info about MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE

Low match PRIMARY FANCONI SYNDROME


Fanconi renotubular syndrome is a consequence of decreased solute and water reabsorption in the proximal tubule of the kidney. Patients have polydipsia and polyuria with phosphaturia, glycosuria, and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis, and a tendency toward dehydration. Some will eventually develop renal insufficiency. Common laboratory abnormalities include glucosuria with a normal serum glucose, hyperaminoaciduria, hypophosphatemia, progressive renal insufficiency, renal sodium and potassium wasting, acidosis, uricosuria, and low-molecular-weight proteinuria (summary by Lichter-Konecki et al., 2001). Genetic Heterogeneity of Fanconi Renotubular SyndromeFanconi renotubular syndrome-1 has been mapped to chromosome 15q15.3. See also FRTS2 (OMIM ), caused by mutation in the SLC34A1 gene (OMIM ) on chromosome 5q35; FRTS3 (OMIM ), caused by mutation in the EHHADH gene (OMIM ) on chromosome 3q27; and FRTS4 (OMIM ), which is associated with maturity-onset diabetes of the young (MODY), caused by mutation in the HNF4A gene (OMIM ) on chromosome 20q13.

PRIMARY FANCONI SYNDROME Is also known as fanconi syndrome without cystinosis|primary fanconi renotubular syndrome|renal fanconi syndrome|frts|luder-sheldon syndrome|fanconi renotubular syndrome|rfs|adult fanconi syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Renal insufficiency
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY FANCONI SYNDROME

Low match AUTOSOMAL DOMINANT PRIMARY HYPOMAGNESEMIA WITH HYPOCALCIURIA


Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.

AUTOSOMAL DOMINANT PRIMARY HYPOMAGNESEMIA WITH HYPOCALCIURIA Is also known as isolated renal magnesium wasting|isolated autosomal dominant hypomagnesemia|magnesium wasting, renal|homg2|renal hypomagnesemia type 2|magnesium loss, isolated renal

Related symptoms:

  • Seizures
  • Hypertension
  • Fatigue
  • Renal insufficiency
  • Muscle cramps


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL DOMINANT PRIMARY HYPOMAGNESEMIA WITH HYPOCALCIURIA

Low match AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E


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

Low match LAMB2-RELATED INFANTILE-ONSET NEPHROTIC SYNDROME


LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal.

Related symptoms:

  • Scoliosis
  • Nystagmus
  • Strabismus
  • Muscle weakness
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about LAMB2-RELATED INFANTILE-ONSET NEPHROTIC SYNDROME

Low match COMPLEMENT COMPONENT 2 DEFICIENCY; C2D


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

Low match PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME


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

Top 5 symptoms//phenotypes associated to Muscle weakness and Renal insufficiency

Symptoms // Phenotype % cases
Hypertension Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Stage 5 chronic kidney disease Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Hypokalemia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Proteinuria

Rare Symptoms - Less than 30% cases


Hyporeflexia Acidosis Rickets Hypophosphatemia Glycosuria Fever Focal segmental glomerulosclerosis Chronic kidney disease Generalized muscle weakness Hyperkalemia Ptosis Strabismus Falls Frequent falls Glomerulosclerosis Glomerulonephritis Short stature Areflexia Nephropathy Acute rhabdomyolysis Skeletal muscle atrophy Elevated serum creatine phosphokinase Myalgia Muscle cramps Rhabdomyolysis Acute kidney injury Myoglobinuria Dark urine Nephritis Intellectual disability Dystonia Congenital nystagmus Neurodevelopmental delay Nephrotic syndrome Retinal detachment Abnormality of skin pigmentation Limb muscle weakness Abnormality of the kidney Proximal muscle weakness Edema Myopia Limb hypertonia Difficulty walking Congenital nephrotic syndrome Nystagmus Scoliosis Loss of speech Muscular hypotonia of the trunk Distal upper limb amyotrophy Mild proteinuria Distal lower limb amyotrophy Onion bulb formation Tubulointerstitial nephritis Axonal loss Abnormality of the eye Hyperechogenic kidneys Miosis Limited extraocular movements Generalized hypotonia Rheumatoid arthritis Apraxia Ataxia Vasculitis in the skin Discoid lupus rash Angioedema Membranoproliferative glomerulonephritis Antinuclear antibody positivity Choreoathetosis Dyskinesia Abnormality of eye movement Fatigable weakness Cognitive impairment Amblyopia Microcoria Systemic lupus erythematosus Purpura Vasculitis Leukemia Truncal ataxia Skin rash Autoimmunity Developmental regression Oculomotor apraxia Arthralgia Recurrent infections Immunodeficiency Arthritis Renal magnesium wasting Steppage gait Metabolic alkalosis Malignant hyperthermia Recurrent upper respiratory tract infections Inability to walk Elevated alkaline phosphatase of bone origin Generalized aminoaciduria Renal phosphate wasting Proximal tubulopathy Renal tubular acidosis Hypercalciuria Bone pain Osteopenia Hypokalemic metabolic alkalosis Decreased circulating renin level Cerebral ischemia Growth delay Alkalosis Constipation Arrhythmia Exercise-induced rhabdomyolysis Exercise-induced muscle cramps Exercise-induced myalgia Exercise intolerance Muscle stiffness Progressive muscle weakness Abnormality of the cardiovascular system Respiratory failure Myopathy Flexion contracture Recurrent myoglobinuria Diabetes mellitus Hammertoe Hypomagnesemia Foot dorsiflexor weakness Split hand Sensory impairment Distal sensory impairment Distal amyotrophy Distal muscle weakness Pes cavus Sensorineural hearing impairment Hearing impairment Hypocalciuria Dysesthesia Chronic fatigue Chondrocalcinosis Pulmonary embolism Aciduria Seizures Lacticaciduria Low-molecular-weight proteinuria Renal Fanconi syndrome Maturity-onset diabetes of the young Hypophosphatemic rickets Hyperphosphaturia Renal tubular dysfunction Osteomalacia Polyuria Polydipsia Aminoaciduria Dehydration Camptocormia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Lymphadenopathy, related diseases and genetic alterations Obesity and Arthralgia, related diseases and genetic alterations Peripheral neuropathy and Tetralogy of Fallot, related diseases and genetic alterations Nystagmus and Spastic tetraplegia, related diseases and genetic alterations Ataxia and Heterotopia, related diseases and genetic alterations Ventricular septal defect and Abnormality of mitochondrial metabolism, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more