Hydrocephalus, and Nephrotic syndrome

Diseases related with Hydrocephalus and Nephrotic syndrome

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

Top matches:

Ventriculomegaly with cystic kidney disease is a severe autosomal recessive developmental disorder characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts. The pregnancies of affected individuals are associated with increased alpha-fetoprotein (AFP). Most affected pregnancies have been terminated (summary by Slavotinek et al., 2015).See also {602200} for a disorder characterized by ventriculomegaly and defects of the radius and kidney.

VENTRICULOMEGALY-CYSTIC KIDNEY DISEASE Is also known as congenital nephrosis-cerebral ventriculomegaly syndrome|vmckd

Related symptoms:

  • Seizures
  • Ventricular septal defect
  • Ventriculomegaly
  • Hydrocephalus
  • Renal insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about VENTRICULOMEGALY-CYSTIC KIDNEY DISEASE

Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

INFANTILE SIALIC ACID STORAGE DISEASE; ISSD Is also known as nsd|sialuria, infantile form|n-acetylneuraminic acid storage disease|nana storage disease

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INFANTILE SIALIC ACID STORAGE DISEASE; ISSD

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

Other less relevant matches:

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism and ear abnormalities. Other features, such as arachnodactyly and visual or hearing 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
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 5; GAMOS5

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

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

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

Nephronophthisis-18 is an autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease in early childhood. Extrarenal manifestations, including intellectual disability or liver changes, may occur in some patients (summary by Failler et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Strabismus
  • Delayed speech and language development
  • Hypertension
  • Hydrocephalus


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS 18; NPHP18

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

Rhabdoid tumor predisposition syndrome-2 is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by Foulkes et al., 2014).See also RTPS1 (OMIM ), which is caused by mutation in the SMARCB1 gene (OMIM ) on chromosome 22q11.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Ventriculomegaly

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Hypertelorism Generalized hypotonia Short stature Cerebral atrophy Epicanthus Ataxia Arachnodactyly Dilatation Spasticity Delayed speech and language development High palate Cryptorchidism Stage 5 chronic kidney disease Hearing impairment Focal segmental glomerulosclerosis Glomerulosclerosis Hypoplasia of the corpus callosum Lissencephaly Postnatal microcephaly Pachygyria Narrow forehead Proteinuria Cerebellar hypoplasia Hernia Severe global developmental delay Nystagmus Heterotopia Premature birth Failure to thrive Muscular hypotonia Anteverted nares Cerebellar atrophy Edema

Rare Symptoms - Less than 30% cases

Downslanted palpebral fissures Prominent nasal bridge Short philtrum Short nose Talipes Constipation Cerebral cortical atrophy Poor speech Irritability Hypothyroidism Camptodactyly Muscular hypotonia of the trunk Narrow mouth Pectus excavatum EEG abnormality Gastroesophageal reflux Macrotia Intestinal malrotation Hematuria Growth delay Abnormality of neuronal migration Generalized-onset seizure Deeply set eye Congenital nephrotic syndrome Midface retrusion Diffuse mesangial sclerosis Hand clenching Tubular atrophy Hiatus hernia Hypertension Coarctation of aorta Hypoalbuminemia Adducted thumb Abnormality of the coagulation cascade Shawl scrotum Hypsarrhythmia Oligohydramnios Sloping forehead Joint hypermobility Absent speech Brain atrophy Microphthalmia Flexion contracture Abnormality of the skeletal system Abnormality of the foot Ptosis Aspiration Osteopenia Micrognathia Abnormality of the kidney Anemia Renal insufficiency Low-set ears Feeding difficulties Talipes equinovarus Hypopigmentation of the skin Visual impairment Inguinal hernia Ascites Intrauterine growth retardation Kyphoscoliosis Myopia Thickening of the glomerular basement membrane Chronic tubulointerstitial nephritis Scoliosis Joint laxity Muscle weakness Cleft palate Motor delay Cerebral palsy Hydronephrosis Depressed nasal bridge Short neck Respiratory failure Atrial septal defect Long philtrum Thin upper lip vermilion Brachycephaly Hypercalcemia Retrognathia Hemiplegia Nephroblastoma Umbilical hernia Glaucoma Sarcoma Posteriorly rotated ears Hypertensive crisis Portal fibrosis Hip dislocation Finger clinodactyly Absence seizures Drooling Tented upper lip vermilion Coarse hair Long nose Abnormality of the musculature Poor eye contact Protruding tongue Central hypothyroidism Embryonal neoplasm Neoplasm of the central nervous system Coloboma Teratoma Ichthyosis Ovarian neoplasm Oculomotor nerve palsy Convex nasal ridge Neoplasm of the liver Renal neoplasm Leukodystrophy Hypocalcemia Hypoplastic left heart Cortical gyral simplification Corpus callosum atrophy Poor appetite Cholestasis Nephritis Nephronophthisis Tubulointerstitial nephritis Telecanthus Arthrogryposis multiplex congenita Protruding ear Fragile skin Respiratory insufficiency Fever Pain Pterygium Congenital contracture Bilateral cryptorchidism Cerebral hemorrhage Open mouth Bilateral talipes equinovarus Delayed cranial suture closure Atrophic scars Prolonged bleeding time Abnormality of the sternum Neoplasm Abnormality of the duodenum Recurrent skin infections Absent septum pellucidum Distal arthrogryposis Hyperalgesia Abnormality of the mouth Low hanging columella Diastasis recti Generalized joint laxity Decreased palmar creases Talipes valgus Flat forehead Ecchymosis Endocarditis Pneumothorax Abnormal anterior chamber morphology Hyperextensible skin Headache Scarring Thin skin Blepharophimosis Broad forehead Dermal translucency Facial asymmetry Thick eyebrow Bruising susceptibility High, narrow palate Retinal detachment Tapered finger Cranial nerve paralysis Microcornea Mitral valve prolapse High myopia Blue sclerae Subcutaneous nodule Cutis laxa Weight loss Thrombocytopenia Abdominal pain Microretrognathia Joint dislocation Narrow palate Horseshoe kidney Low anterior hairline Recurrent urinary tract infections Carcinoma Exotropia Nausea and vomiting Nephrolithiasis Large fontanelles Lymphadenopathy Stereotypy Recurrent infections Tetraparesis Limitation of joint mobility Pneumonia Pes cavus Abnormality of the eye Wide mouth Retinopathy Camptodactyly of finger Small for gestational age Abnormality of eye movement Inability to walk Nephropathy Sleep disturbance Tetraplegia Gliosis Chorea Delayed myelination Abnormality of the dentition Prominent nose Dandy-Walker malformation Hypotelorism Spastic tetraplegia Small nail Progressive microcephaly Joint contracture of the hand Opacification of the corneal stroma Severe muscular hypotonia Hyperkinesis Chronic kidney disease Hypoplasia of the brainstem Flat occiput Hemiplegia/hemiparesis Dystonia Hypertonia Congenital hypothyroidism Gingival overgrowth Polydactyly Polyhydramnios Postaxial polydactyly Renal cyst Renal corticomedullary cysts Periventricular gray matter heterotopia Hepatomegaly Congestive heart failure Splenomegaly Coarse facial features Hepatosplenomegaly Respiratory tract infection Corneal opacity Cardiomegaly Hydrops fetalis Vomiting Abnormality of the thorax Metaphyseal irregularity Esophageal atresia Fair hair Dysostosis multiplex Conjugated hyperbilirubinemia Visceromegaly Vacuolated lymphocytes J-shaped sella turcica Fetal ascites Cataract Cognitive impairment Hyperreflexia Optic atrophy Slender finger Abnormality of immune system physiology Status epilepticus Clinodactyly Focal-onset seizure Myocardial infarction Mitral regurgitation Aortic regurgitation Bicuspid aortic valve Patent foramen ovale Aortic aneurysm Emphysema Cortical dysplasia Enlarged cisterna magna Widow's peak Dyslexia Subependymal nodules Brachydactyly Clinodactyly of the 5th finger Stroke Hyperactivity Gait ataxia Autism Neonatal hypotonia Aggressive behavior Postnatal growth retardation Autistic behavior Thin vermilion border Single transverse palmar crease Generalized myoclonic seizures Urinary incontinence Round face Underdeveloped nasal alae Esotropia Confusion Skeletal dysplasia Proportionate short stature Albuminuria Hypoplasia of the iris Adrenal hypoplasia Aspiration pneumonia Mild microcephaly Esophagitis Diffuse cerebral atrophy Aqueductal stenosis Spastic ataxia Abnormal renal physiology Periorbital edema Narrow nasal ridge Diaphragmatic eventration Axial dystonia Abnormality of the intervertebral disk Encephalomalacia Micropenis Hypoplasia of the ear cartilage Laryngospasm Thyroid dysgenesis Projectile vomiting Mandibular prognathia Peripheral demyelination Wide nasal bridge Intellectual disability, severe Intellectual disability, mild Syndactyly Ventricular septal defect Encephalopathy Patent ductus arteriosus Agenesis of corpus callosum Internal hemorrhage


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