Muscle weakness, and Nephrotic syndrome

Diseases related with Muscle weakness and Nephrotic syndrome

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


Top matches:

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 AGEL AMYLOIDOSIS


AGel amyloidosis is a rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.

AGEL AMYLOIDOSIS Is also known as amyloid cranial neuropathy with lattice corneal dystrophy|amyloidosis, meretoja type|amyloidosis due to mutant gelsolin|amyloidosis v|familial amyloidosis, finnish type|gelsolin amyloidosis|familial amyloid polyneuropathy type iv|hereditary amyloidosis, f

Related symptoms:

  • Cataract
  • Ptosis
  • Peripheral neuropathy
  • Cardiomyopathy
  • Renal insufficiency


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AGEL AMYLOIDOSIS

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33


COXPD33 is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. The phenotype is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. A common finding is cardiomyopathy and increased serum lactate (summary by Feichtinger et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33

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Other less relevant matches:

Low match MULTIPLE MYELOMA


Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig).

MULTIPLE MYELOMA Is also known as plasma cell myeloma|myelomatosis|kahler's disease|medullary plasmacytoma

Related symptoms:

  • Neoplasm
  • Anemia
  • Fatigue
  • Splenomegaly
  • Weight loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE MYELOMA

Low match CEDNIK SYNDROME


CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.

CEDNIK SYNDROME Is also known as cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cednik syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEDNIK SYNDROME

Low match HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME


Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).

HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME Is also known as barakat syndrome|hdrs|nephrosis, nerve deafness, and hypoparathyroidism|hdr syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME

Low match COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1


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

Low match PMM2-CDG


PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.

PMM2-CDG Is also known as jaeken syndrome|cdg-ia|cdg ia|cdg syndrome type ia|cdg1a|carbohydrate-deficient glycoprotein syndrome, type ia, formerly|carbohydrate deficient glycoprotein syndrome type ia|congenital disorder of glycosylation type 1a|phosphomannomutase 2 deficiency|cdgi

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PMM2-CDG

Low match MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA


Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).See also MAD type B (MADB ), which is caused by mutation in the ZMPSTE24 gene (OMIM ).

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA Is also known as craniomandibular dermatodysostosis|lipodystrophy, type a, associated with mandibuloacral dysplasia

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

Low match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE


Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.

EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE Is also known as mceds|arthrogryposis, distal, with peculiar facies and hydronephrosis|adducted thumb-clubfoot syndrome|ehlers-danlos syndrome, type vib, formerly|atcs|adducted thumb, clubfoot, and progressive joint and skin laxity syndrome|eds6b, formerly|dundar syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE

Top 5 symptoms//phenotypes associated to Muscle weakness and Nephrotic syndrome

Symptoms // Phenotype % cases
Proteinuria Common - Between 50% and 80% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Polyneuropathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Peripheral neuropathy Seizures Global developmental delay Nystagmus Renal insufficiency Generalized hypotonia Ptosis Growth delay Fatigue Rod-cone dystrophy Encephalopathy Acidosis Osteopenia Depressed nasal bridge Muscular hypotonia Short stature Stroke Ataxia Failure to thrive Hypogonadism Sensorineural hearing impairment Abnormal facial shape Flexion contracture Scoliosis Glomerulosclerosis Congenital nephrotic syndrome Abnormality of the kidney Cataract Strabismus Focal segmental glomerulosclerosis

Rare Symptoms - Less than 30% cases


Nephropathy High palate Amblyopia Exercise intolerance Lipodystrophy Abnormality of the skeletal system Neoplasm Anemia Short nose Hyperextensible skin Muscular hypotonia of the trunk Severe global developmental delay Insulin resistance Vertebral compression fractures Abnormality of eye movement Respiratory distress Microcephaly Cerebellar atrophy Narrow mouth Macrotia Abnormality of the eye Retrognathia Large fontanelles Thin skin Proximal muscle weakness Scarring Edema Hypergonadotropic hypogonadism Skeletal muscle atrophy Respiratory failure Hypertelorism Downslanted palpebral fissures Optic atrophy Thin upper lip vermilion Kyphoscoliosis Cutis laxa Abnormality of the dentition Bilateral sensorineural hearing impairment Limb muscle weakness Amyloidosis Delayed cranial suture closure Motor delay Hydronephrosis Abnormality of skin pigmentation Paralysis Diabetes mellitus Retinal detachment Pain Metabolic acidosis Chronic kidney disease Myopia Cleft palate Abnormality of the liver Elevated hepatic transaminase Hypertrophic cardiomyopathy Hepatomegaly Hypothyroidism Constipation Elevated serum creatine phosphokinase Myopathy Glaucoma Abnormality of the cardiovascular system Epidermal acanthosis Thrombocytosis Hypertriglyceridemia Congenital muscular dystrophy Prematurely aged appearance Spinal rigidity Reduced subcutaneous adipose tissue Hypermelanotic macule High pitched voice Glucose intolerance Hyperostosis Hyperglycemia Absent eyebrow Hyperinsulinemia Sparse scalp hair Dermal atrophy Hyperlipidemia Convex nasal ridge Acanthosis nigricans Osteolysis Wormian bones Increased body weight Hyperpigmentation of the skin Dental crowding Atherosclerosis Short distal phalanx of finger Abnormality of the skin Micronodular cirrhosis Hyperplastic labia majora Abnormal subcutaneous fat tissue distribution Olivopontocerebellar hypoplasia Reduced factor XI activity Reduced antithrombin III activity Abnormality of the amniotic fluid Atrophy/Degeneration affecting the brainstem Pontocerebellar atrophy Diffuse mesangial sclerosis Hypertension Type I transferrin isoform profile Hypocholesterolemia Proximal tubulopathy Prolonged prothrombin time Olivopontocerebellar atrophy Stroke-like episode Prolonged partial thromboplastin time Nonimmune hydrops fetalis Inverted nipples Micrognathia IgA deficiency Dental malocclusion Nail dystrophy Hypoalbuminemia Premature ovarian insufficiency Pericardial effusion Round face Full cheeks Sepsis IgG deficiency Delayed puberty Hypotrichosis Muscular dystrophy Hypospadias Sparse hair Joint stiffness Postnatal growth retardation Rigidity Proptosis Short clavicles Hyperkeratosis Osteoporosis Alopecia Arthropathy Stiff elbow Premature loss of teeth Nephrolithiasis Pterygium Recurrent skin infections Adducted thumb Microretrognathia Joint dislocation Narrow palate Horseshoe kidney Low anterior hairline Exotropia Recurrent urinary tract infections Bilateral cryptorchidism Blue sclerae High myopia Coarctation of aorta Mitral valve prolapse Intestinal malrotation Microcornea Tapered finger High, narrow palate Bruising susceptibility Thick eyebrow Congenital contracture Cerebral hemorrhage Arachnodactyly Generalized joint laxity Hyperalgesia Decreased palmar creases Talipes valgus Flat forehead Endocarditis Abnormal anterior chamber morphology Dermal translucency Pneumothorax Ecchymosis Diastasis recti Abnormality of the coagulation cascade Low hanging columella Hiatus hernia Abnormality of the mouth Distal arthrogryposis Absent septum pellucidum Fragile skin Abnormality of the sternum Prolonged bleeding time Atrophic scars Bilateral talipes equinovarus Joint hypermobility Talipes Insulin-resistant diabetes mellitus Breast aplasia Thin clavicles Increased adipose tissue around the neck Aplasia/Hypoplasia of the clavicles Osteolytic defects of the distal phalanges of the hand Limb-girdle muscle atrophy Bird-like facies Mottled pigmentation Loss of subcutaneous adipose tissue in limbs Hematemesis Wide cranial sutures Acroosteolysis of distal phalanges (feet) Generalized lipodystrophy Narrow nasal ridge Broad distal phalanx of finger Hypoplasia of teeth Prominent superficial veins Calcinosis Osteolytic defects of the phalanges of the hand Progeroid facial appearance Down-sloping shoulders Narrow nose Foot pain Abnormality of the fingertips Facial asymmetry Posteriorly rotated ears Arthrogryposis multiplex congenita Broad forehead Short philtrum Blepharophimosis Protruding ear Telecanthus Joint laxity Umbilical hernia Brachycephaly Inguinal hernia Increased facial adipose tissue Pectus excavatum Hernia Long philtrum Atrial septal defect Short neck Ventriculomegaly Talipes equinovarus Cryptorchidism Foamy urine Progressive clavicular acroosteolysis Truncal ataxia Pancytopenia Hepatic fibrosis Functional abnormality of the gastrointestinal tract Intellectual disability, severe Hypoplasia of the corpus callosum Wide nasal bridge Plasmacytoma Hyperproteinemia Paraproteinemia Abnormality of vitamin B12 metabolism Monoclonal immunoglobulin M proteinemia Increased IgG level Areflexia Abnormality of the bladder Increased IgA level Prostate cancer Multiple myeloma Elevated serum creatinine Neoplasm of the pancreas Spinal cord compression Acute kidney injury Abnormality of blood and blood-forming tissues Congestive heart failure Agenesis of corpus callosum Colon cancer Poor head control Optic disc hypoplasia Diffuse palmoplantar keratoderma Perisylvian polymicrogyria Abnormal corpus callosum morphology Abnormality of peripheral nerve conduction Cortical dysplasia Palmoplantar hyperkeratosis Abnormality of vision Intellectual disability, progressive Prominent nasal bridge Short chin Progressive microcephaly Pachygyria Depressed nasal ridge Palmoplantar keratoderma Polymicrogyria Long face Ichthyosis Dolichocephaly Pathologic fracture Increased antibody level in blood Myalgia Palpitations Mild proteinuria Facial paralysis Bulbar signs Abnormality of abdomen morphology Orthostatic hypotension Bulbar palsy Corneal dystrophy Abnormal autonomic nervous system physiology Hypotension Cardiac amyloidosis Everted lower lip vermilion Poor speech Corneal opacity Microcoria Limited extraocular movements Miosis Congenital nystagmus Neurodevelopmental delay Stage 5 chronic kidney disease Lattice corneal dystrophy Bilateral facial palsy Pleural effusion Splenomegaly Hypercalcemia Bone pain Tall stature Decreased antibody level in blood Generalized muscle weakness Lymphadenopathy Paresthesia Weight loss Progressive external ophthalmoplegia Generalized amyloid deposition External ophthalmoplegia Left ventricular hypertrophy Ventricular hypertrophy Cardiomegaly Oligohydramnios Increased serum lactate Astigmatism Lower limb muscle weakness Ophthalmoplegia Abnormal heart morphology Hematuria Pigmentary retinopathy Oculomotor apraxia Tubular atrophy Myoglobinuria Glomerulopathy Generalized amyotrophy Ophthalmoparesis Glomerulonephritis Failure to thrive in infancy Ragged-red muscle fibers Progressive muscle weakness Steroid-resistant nephrotic syndrome Progressive neurologic deterioration Status epilepticus Apraxia Specific learning disability Memory impairment Aciduria Progressive cerebellar ataxia Muscle cramps Postural instability Scanning speech Glutaric aciduria Lactic acidosis Abnormality of the nervous system Peripheral demyelination Epileptic encephalopathy Esotropia Renal cyst Hepatic steatosis Cirrhosis Retinal degeneration Feeding difficulties in infancy Prominent forehead Recurrent myoglobinuria Cerebellar hypoplasia Hyporeflexia Kyphosis Diarrhea Vomiting Feeding difficulties Crescentic glomerulonephritis Rapid neurologic deterioration Exercise-induced myoglobinuria Hepatic failure Joint hyperflexibility Vesicoureteral reflux Polycystic kidney dysplasia Tetany Severe postnatal growth retardation Hypoparathyroidism Renal tubular acidosis Basal ganglia calcification Progressive sensorineural hearing impairment Unilateral renal agenesis Psoriasiform dermatitis Polycystic ovaries Ovarian cyst Abnormality of the urinary system Hyperkinesis Ischemic stroke Nephrocalcinosis Multicystic kidney dysplasia Hypocalcemia Horizontal nystagmus Renal dysplasia Ectodermal dysplasia Vaginal atresia Aplasia of the uterus Abnormal pyramidal sign Unilateral renal dysplasia Myoclonus Visual loss Cerebral atrophy Intellectual disability, mild Gait disturbance Dysarthria Hyperreflexia Cognitive impairment Spasticity Parathyroid hypoplasia Hypocalcemic seizures Abnormality of T cell physiology Unilateral deafness Bilateral renal dysplasia Thickening of the glomerular basement membrane Septate vagina Pseudopapilledema Proximal renal tubular acidosis Distal renal tubular acidosis Uterus didelphys Abnormality of the duodenum



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