Strabismus, and Nephrotic syndrome

Diseases related with Strabismus and Nephrotic syndrome

In the following list you will find some of the most common rare diseases related to Strabismus 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 GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

Low match FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY


NPHS14 is an autosomal recessive syndromic form of steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS) and resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects (summary by Prasad et al., 2017 and Lovric et al., 2017).For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY Is also known as primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY

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Other less relevant matches:

Low match PERIVENTRICULAR NODULAR HETEROTOPIA


Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.

PERIVENTRICULAR NODULAR HETEROTOPIA Is also known as heterotopia, periventricular, ehlers-danlos variant|periventricular nodular heterotopia 4, formerly|heterotopia, familial nodular|heterotopia, periventricular, x-linked dominant|pvnh4, formerly|nhbp|nodular heterotopia, bilateral periventricular|bpnh

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA

Low match X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE


X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE

Low match GALLOWAY-MOWAT SYNDROME 3; GAMOS3


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 3; GAMOS3

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 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

Low match GALLOWAY-MOWAT SYNDROME


Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.

GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly, hiatal hernia, and nephrotic syndrome|scar5, formerly|galloway syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnor

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME

Low match ALAGILLE SYNDROME 1; ALGS1


Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Top 5 symptoms//phenotypes associated to Strabismus and Nephrotic syndrome

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Glomerulosclerosis

Common Symptoms - More than 50% cases


Proteinuria

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Cerebellar hypoplasia Congenital nephrotic syndrome Cryptorchidism Focal segmental glomerulosclerosis Nystagmus Stage 5 chronic kidney disease Ataxia Spasticity Narrow forehead Failure to thrive Ventriculomegaly Arachnodactyly Hypothyroidism Cerebellar atrophy Intrauterine growth retardation Hypoalbuminemia Delayed speech and language development Feeding difficulties High palate Macrotia Micrognathia Diffuse mesangial sclerosis Hearing impairment Edema Muscular hypotonia of the trunk Short philtrum Lissencephaly Severe global developmental delay Postnatal microcephaly Coarctation of aorta Retinopathy Hypoplasia of the corpus callosum Depressed nasal bridge Flexion contracture Downslanted palpebral fissures Muscular hypotonia Dilatation Scoliosis Abnormality of the kidney Cerebral atrophy Esotropia Muscle weakness Ptosis Renal insufficiency Visual impairment Myopia

Rare Symptoms - Less than 30% cases


Poor speech Round face Hypsarrhythmia Atrial septal defect Cataract Long nose Epicanthus Exotropia Microphthalmia Midface retrusion Low-set ears Abnormal anterior chamber morphology Adducted thumb Prominent nasal bridge Narrow mouth EEG abnormality Gastroesophageal reflux Cerebral cortical atrophy Constipation Clinodactyly of the 5th finger Clinodactyly Absent speech Short nose Pectus excavatum Deeply set eye Microcornea Kyphoscoliosis Talipes equinovarus Abnormality of the skeletal system Hernia Pigmentary retinopathy Brachycephaly Cirrhosis Abnormality of eye movement Abnormality of the liver Abnormality of the eye Elevated hepatic transaminase Thin upper lip vermilion Osteopenia Prominent forehead Prominent nose Vomiting Hepatomegaly Hypopigmentation of the skin Protruding ear Scarring Hand clenching Broad forehead Pachygyria Talipes Oligohydramnios Sloping forehead Camptodactyly Anteverted nares Finger clinodactyly Hiatus hernia Retinal detachment Joint hypermobility Focal-onset seizure Heterotopia Ichthyosis Abnormality of skin pigmentation Chronic kidney disease Peripheral neuropathy Abnormality of the nervous system Stroke Abnormality of the coagulation cascade Abnormality of neuronal migration Generalized-onset seizure Hypogonadism Encephalopathy Hypocalcemia Shawl scrotum Intestinal malrotation Micropenis Intellectual disability, mild Hypertriglyceridemia Small nail Progressive microcephaly Spastic tetraplegia Biliary atresia Hypotelorism Dandy-Walker malformation Band keratopathy Papillary thyroid carcinoma Premature birth Axenfeld anomaly Delayed myelination Limitation of joint mobility Joint contracture of the hand Hyperkinesis Aspiration Proportionate short stature Diffuse cerebral atrophy Tubular atrophy Esophagitis Mild microcephaly Aspiration pneumonia Adrenal hypoplasia Hypoplasia of the iris Abnormality of immune system physiology Opacification of the corneal stroma Congenital hypothyroidism Slender finger Hemiplegia/hemiparesis Flat occiput Hypoplasia of the brainstem Brain atrophy Severe muscular hypotonia Vitamin D deficiency Sleep disturbance Chorea Talipes valgus Optic atrophy Hyperreflexia Anemia Cognitive impairment Abnormality of the duodenum Rectourethral fistula Hyperalgesia Decreased palmar creases Flat forehead Hypertonia Endocarditis Reduced number of intrahepatic bile ducts Dermal translucency Pneumothorax Ecchymosis Generalized joint laxity Diastasis recti Low hanging columella Hydrocephalus Abnormality of the dentition Gliosis Hematuria Tetraplegia Ascites Renal artery stenosis Spastic ataxia Multiple small medullary renal cysts Chronic hepatic failure Nephropathy Intrahepatic biliary atresia Inability to walk Dystonia Unicoronal synostosis Abnormality of the foot Small for gestational age Camptodactyly of finger Wide mouth Irritability Pes cavus Pneumonia Aqueductal stenosis Multicystic kidney dysplasia Abnormal renal physiology Flat face Telangiectasia of the skin Gastrointestinal hemorrhage Vesicoureteral reflux Triangular face Hypodontia Short distal phalanx of finger Abnormality of the mouth Hepatic failure Tetralogy of Fallot Anal atresia Delayed puberty Malabsorption Pulmonic stenosis Pruritus Craniosynostosis Keratoconus Renal tubular acidosis Specific learning disability Abnormality of the ribs Posterior embryotoxon Abnormal vertebral morphology Hypercholesterolemia Corneal dystrophy Renal hypoplasia/aplasia Portal hypertension Hemivertebrae Heart murmur Pointed chin Hypoplasia of the ulna Renal hypoplasia Lymphedema Renal dysplasia Malnutrition Abnormal form of the vertebral bodies Cholestasis Vertebral segmentation defect Chorioretinal atrophy Prolonged neonatal jaundice Abnormality of the ureter Exocrine pancreatic insufficiency Periorbital edema Arterial stenosis Hypertension Neoplasm Peripheral pulmonary artery stenosis Fat malabsorption Projectile vomiting Hypopigmentation of the fundus Thyroid dysgenesis Laryngospasm Ventricular septal defect Butterfly vertebrae Hypoplasia of the ear cartilage Spina bifida occulta Albuminuria Abnormality of the intervertebral disk Axial dystonia Diaphragmatic eventration Narrow nasal ridge Frontal bossing Congestive heart failure Hepatocellular carcinoma Coarse facial features Carcinoma Conductive hearing impairment Hepatosplenomegaly Dilatation of the cerebral artery Abnormality of the vasculature Pulmonary artery stenosis Coronal craniosynostosis Jaundice Acidosis Visual loss Upslanted palpebral fissure Intrahepatic cholestasis Delayed skeletal maturation Peripheral arterial stenosis Cholestatic liver disease Thyroid carcinoma Abnormal pupil morphology Areflexia Encephalomalacia Pontocerebellar atrophy Distal arthrogryposis Autistic behavior Tetraparesis Status epilepticus Underdeveloped nasal alae Urinary incontinence Generalized myoclonic seizures Single transverse palmar crease Thin vermilion border Postnatal growth retardation Stereotypy Aggressive behavior Neonatal hypotonia Autism Gait ataxia Hyperactivity Brachydactyly Subependymal nodules Dyslexia Open mouth Absence seizures Enlarged cisterna magna Leukodystrophy Cardiomyopathy Respiratory distress Skeletal muscle atrophy Hypertensive crisis Corpus callosum atrophy Cortical gyral simplification Hypoplastic left heart Convex nasal ridge Drooling Hip dislocation Coloboma Central hypothyroidism Protruding tongue Poor eye contact Abnormality of the musculature Coarse hair Tented upper lip vermilion Widow's peak Cortical dysplasia Kyphosis Minimal change glomerulonephritis Lymphopenia Epidermal acanthosis Developmental regression Mental deterioration Hypoglycemia Immunodeficiency Sensorineural hearing impairment Polymicrogyria Focal impaired awareness seizure Dysmetria Microcoria Limited extraocular movements Miosis Congenital nystagmus Neurodevelopmental delay Limb muscle weakness Proximal muscle weakness Recurrent bacterial infections Adrenal insufficiency Emphysema Skeletal dysplasia Aortic aneurysm Patent foramen ovale Bicuspid aortic valve Aortic regurgitation Mitral regurgitation Myocardial infarction Confusion Agenesis of corpus callosum Primary adrenal insufficiency Patent ductus arteriosus Recurrent infections Syndactyly Intellectual disability, severe Wide nasal bridge Absent testis Steroid-resistant nephrotic syndrome Primary hypothyroidism Diarrhea Hyporeflexia Absent septum pellucidum Thick eyebrow Thin skin Blue sclerae High myopia Mitral valve prolapse Tapered finger High, narrow palate Bruising susceptibility Facial asymmetry Large fontanelles Arthrogryposis multiplex congenita Blepharophimosis Telecanthus Joint laxity Hydronephrosis Umbilical hernia Retrognathia Respiratory failure Recurrent urinary tract infections Nephrolithiasis Posteriorly rotated ears Bilateral cryptorchidism Fragile skin Abnormality of the sternum Prolonged bleeding time Atrophic scars Delayed cranial suture closure Bilateral talipes equinovarus Cerebral hemorrhage Congenital contracture Low anterior hairline Pterygium Hyperextensible skin Recurrent skin infections Cutis laxa Microretrognathia Joint dislocation Narrow palate Horseshoe kidney Glaucoma Inguinal hernia Rod-cone dystrophy Hepatic fibrosis IgA deficiency Pericardial effusion Premature ovarian insufficiency Lipodystrophy Hypergonadotropic hypogonadism Truncal ataxia Insulin resistance Amblyopia Inverted nipples Peripheral demyelination Epileptic encephalopathy Renal cyst Polyneuropathy Hepatic steatosis Retinal degeneration Feeding difficulties in infancy Hypertrophic cardiomyopathy Atrophy/Degeneration affecting the brainstem Thrombocytosis Long philtrum Abnormality of the amniotic fluid Short neck Motor delay Cleft palate Hyperplastic labia majora Abnormal subcutaneous fat tissue distribution Olivopontocerebellar hypoplasia Reduced factor XI activity Reduced antithrombin III activity Micronodular cirrhosis IgG deficiency Type I transferrin isoform profile Hypocholesterolemia Proximal tubulopathy Prolonged prothrombin time Olivopontocerebellar atrophy Stroke-like episode Prolonged partial thromboplastin time Nonimmune hydrops fetalis Butterfly vertebral arch



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