Muscle weakness, and Renal insufficiency

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

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

SOURCES: MESH ORPHANET OMIM MENDELIAN

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

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

SOURCES: ORPHANET OMIM MENDELIAN

Low match FANCONI RENOTUBULAR SYNDROME 2; FRTS2

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: OMIM MESH MENDELIAN

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

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

SOURCES: ORPHANET OMIM MENDELIAN

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

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

SOURCES: OMIM ORPHANET MESH MENDELIAN

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

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

SOURCES: OMIM ORPHANET MENDELIAN

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.

• Scoliosis
• Nystagmus
• Strabismus
• Muscle weakness
• Ptosis

SOURCES: OMIM ORPHANET MENDELIAN

Low match COMPLEMENT COMPONENT 2 DEFICIENCY; C2D

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

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: OMIM ORPHANET MENDELIAN