Hydrocephalus, and Nephritis

Diseases related with Hydrocephalus and Nephritis

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

Top matches:

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

Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

RENAL COLOBOMA SYNDROME Is also known as renal-coloboma syndrome|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|optic coloboma, vesicoureteral reflux, and renal anomalies|papillo-renal syndrome|coloboma of optic nerve with renal disease|renal-coloboma s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RENAL COLOBOMA SYNDROME

Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterised by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia (see this term).

LIGNEOUS CONJUNCTIVITIS Is also known as conjunctivitis lignosa

Related symptoms:

  • Global developmental delay
  • Hyperreflexia
  • Macrocephaly
  • Hydrocephalus
  • Blindness


SOURCES: ORPHANET MENDELIAN

More info about LIGNEOUS CONJUNCTIVITIS

Other less relevant matches:

Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

Medium match HYPOPLASMINOGENEMIA

Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing.

HYPOPLASMINOGENEMIA Is also known as plasminogen deficiency type 1

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hyperreflexia
  • Macrocephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOPLASMINOGENEMIA

Low match ACROOSTEOLYSIS

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS

BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

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

CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME

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 Nephritis

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of the kidney Hearing impairment Macrocephaly Hypertension Dandy-Walker malformation Abnormality of the dentition Hematuria Global developmental delay Renal insufficiency Pain Proteinuria Periodontitis Cataract Ventricular septal defect Glomerulonephritis Cleft palate Micrognathia Papule Brachydactyly Nephrolithiasis

Rare Symptoms - Less than 30% cases

Recurrent otitis media Gingival overgrowth Conjunctivitis Abnormality of vision Recurrent pneumonia Low-set ears Malar flattening Cerebellar hypoplasia Blindness Hyperreflexia Brachycephaly Orbital cyst Proptosis Scoliosis Recurrent upper respiratory tract infections Recurrent bronchitis Epiphora Abnormality of the gallbladder Postaxial polydactyly Wide nasal bridge Failure to thrive Vaginitis Cervicitis Chronic irritative conjunctivitis Abnormality of fontanelles Abnormality of the mediastinum Gastrointestinal inflammation Premature loss of teeth Duodenal ulcer Keratoconjunctivitis Poor wound healing Recurrent pharyngitis Stomatitis Abnormality of the larynx Sparse hair Gingivitis Headache Dry skin Craniosynostosis Epicanthus Seizures Tubulointerstitial nephritis Visual loss Visual impairment Myopia Microphthalmia Glaucoma Joint laxity Coloboma Joint hyperflexibility Melanocytic nevus Iris coloboma Stage 5 chronic kidney disease Neoplasm Arnold-Chiari malformation Respiratory insufficiency Coarse facial features Platybasia Frontal bossing Carcinoma Nevus Multiple renal cysts Abdominal pain Polydactyly Dental malocclusion Telecanthus Cerebral calcification Agenesis of permanent teeth Long fingers Bradycardia Spina bifida Short ribs Basal cell carcinoma Milia Hypotension Hemiparesis Disproportionate tall stature Hemivertebrae Abnormality of the ribs Inflammation of the large intestine Relative macrocephaly Exotropia Neoplasm of the skin Muscle stiffness Hypogonadotrophic hypogonadism Spina bifida occulta Hyperpigmentation of the skin Osteolytic defects of the phalanges of the hand Prominent occiput Syringomyelia Ataxia Microcephaly Osteolytic defects of the phalanges of the toes Partial absence of toe Hypoplastic 5th lumbar vertebrae Basilar invagination Premature loss of permanent teeth Basilar impression Spasticity Flank pain Absent frontal sinuses Rough bone trabeculation Biconcave vertebral bodies Patellar dislocation Respiratory arrest Decreased skull ossification Cryptorchidism Motor delay Palmoplantar keratoderma Facial palsy Mitral stenosis Colitis Oral cleft Cleft upper lip Arachnodactyly Carious teeth Hypotrichosis Cleft lip Dysarthria EEG abnormality Retrognathia Kyphoscoliosis Mandibular prognathia Pectus excavatum Syndactyly Abnormality of the skeletal system Vertebral fusion Short distal phalanx of the thumb Abnormality of the sternum Cerebellar vermis hypoplasia Anemia Posterior fossa cyst Scaphocephaly Hypoplastic toenails Sparse eyebrow Trigonocephaly Sparse eyelashes Ectodermal dysplasia Thrombocytopenia Prominent forehead Depressed nasal bridge Cognitive impairment Periventricular gray matter heterotopia Renal corticomedullary cysts Heterotopia Nephrotic syndrome Premature birth Fever Weight loss Polyhydramnios Ovarian neoplasm Embryonal neoplasm Neoplasm of the central nervous system Teratoma Oculomotor nerve palsy Neoplasm of the liver Renal neoplasm Poor appetite Nephroblastoma Irritability Hypercalcemia Hemiplegia Sarcoma Cerebral palsy Cranial nerve paralysis Subcutaneous nodule Lymphadenopathy Nausea and vomiting Renal cyst Dilatation Thoracic scoliosis Ulcerative colitis Hamartomatous polyposis Cervical ribs Supernumerary ribs Ectopic calcification Medulloblastoma Astrocytoma Brain neoplasm Broad face Abnormality of the sense of smell Neoplasm of the endocrine system Abnormality of the neck Short 4th metacarpal Skin tags Down-sloping shoulders Fragile nails Narrow nose Sprengel anomaly Fibroma Vertebral wedging Ventriculomegaly Cardiac rhabdomyoma Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Bifid ribs Parietal bossing Curved fingers Histiocytoma Calcification of falx cerebri Palmar pits Open bite Severe hydrocephalus Multiple impacted teeth Ovarian carcinoma Delayed cranial suture closure Hypospadias Abnormality of the voice Macular hyperpigmentation Optic atrophy Feeding difficulties Ptosis Hypercoagulability Ureterovesical junction obstruction Recurrent pyelonephritis Morning glory anomaly Posteriorly rotated ears Renal malrotation Scleral staphyloma Optic nerve dysplasia Mild proteinuria Bilateral renal hypoplasia Lens luxation Pyelonephritis Midface retrusion High forehead High-frequency hearing impairment Acanthosis nigricans Proportionate short stature Aplasia/Hypoplasia of the cerebellum Laryngomalacia Increased intracranial pressure Abnormality of the metacarpal bones Abnormal palate morphology Abnormal form of the vertebral bodies Conductive hearing impairment Choanal atresia Epidermal acanthosis Convex nasal ridge Short metacarpal Migraine Hypoplasia of the maxilla Hypopigmentation of the skin Ureteropelvic junction obstruction Retinal coloboma Choanal stenosis Sensorineural hearing impairment Retinal detachment Nephropathy Confusion Hydronephrosis Reduced visual acuity Edema Nystagmus Vesicoureteral reflux Chronic tubulointerstitial nephritis Thickening of the glomerular basement membrane Portal fibrosis Tubular atrophy Nephronophthisis Cholestasis Delayed speech and language development Gliosis Progressive visual loss Optic nerve coloboma Visual field defect Hydrocele testis Elevated serum creatinine Abnormality of the vasculature Soft skin Arnold-Chiari type I malformation Severe vision loss Chorioretinal atrophy Hyperextensible skin Renal hypoplasia Chronic kidney disease Abnormality of the genitourinary system Macular degeneration Multicystic kidney dysplasia Horseshoe kidney Renal dysplasia Abnormality of the genital system Turricephaly Cloverleaf skull Polycystic kidney dysplasia Pectus carinatum Thin vermilion border Joint hypermobility Paresthesia Delayed puberty Synophrys Dolichocephaly Respiratory tract infection Short distal phalanx of finger Umbilical hernia Arthralgia Skeletal dysplasia Osteopenia Narrow mouth Osteoporosis Recurrent respiratory infections Thick eyebrow Wide nose Patent ductus arteriosus Skin ulcer Coarse hair Osteolysis Abnormality of the fingernails Wormian bones Generalized hirsutism Low anterior hairline Aortic valve stenosis Downturned corners of mouth Short toe Bone pain Thickened skin Bowing of the long bones Intestinal malrotation Full cheeks Recurrent fractures Inguinal hernia Hernia Inflammatory abnormality of the eye Abnormality of metabolism/homeostasis Abnormality of the skin Otitis media Asthma Scarring Abnormality of the eye Pneumonia Hypoplasia of the corpus callosum Hoarse voice Generalized hypotonia Short uvula Membranous nephropathy Bicoronal synostosis Brachyturricephaly Abnormal sacrum morphology Craniofacial dysostosis Sinusitis Venous thrombosis Recurrent infections Pneumomediastinum Long philtrum Kyphosis Splenomegaly Short neck Anteverted nares Hepatomegaly Peripheral neuropathy Decreased level of plasminogen Chronic otitis media Geographic tongue Reduced factor XII activity Abnormality of the fallopian tube Abnormality of the middle ear Abnormality of the ovary Abnormality of the respiratory system Abnormality of the ear Internal hemorrhage


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