Hydrocephalus, and Nephrolithiasis

Diseases related with Hydrocephalus and Nephrolithiasis

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

Top matches:

Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH ) and sulfite oxidase (SUOX ), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). Genetic Heterogeneity of Molybdenum Cofactor DeficiencySee also MOCOD, complementation group B (MOCODB ), caused by mutation in the MOCS2 gene (OMIM ) on chromosome 5q11; and MOCOD, complementation group C (MOCODC ), caused by mutation in the GPHN gene (OMIM ) on chromosome 14q24.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A Is also known as sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type a|mocod type a

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A

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:

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

X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

X-LINKED CENTRONUCLEAR MYOPATHY Is also known as x-linked myotubular myopathy|myotubular myopathy, x-linked|myotubular myopathy 1|xlmtm|mtmx|xlcnm|mtm1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CENTRONUCLEAR MYOPATHY

Molybdenum cofactor deficiency is a rare autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood (summary by Reiss et al., 1999).For a general phenotypic description and a discussion of genetic heterogeneity of MOCOD, see MOCODA (OMIM ), which is clinically indistinguishable from MOCODB.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE B Is also known as combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type b|mocod type b

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE B

Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT; see this term).

ATYPICAL RETT SYNDROME Is also known as atypical rtt|rett syndrome variant|autism, dementia, ataxia, and loss of purposeful hand use|rts

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATYPICAL RETT SYNDROME

Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

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

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Top 5 symptoms//phenotypes associated to Hydrocephalus and Nephrolithiasis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Ventriculomegaly Muscular hypotonia Thick vermilion border Long philtrum Strabismus Accelerated skeletal maturation Myopia Scoliosis Abnormal facial shape Microcephaly Feeding difficulties High palate Hypoplasia of the corpus callosum Growth delay Cryptorchidism Lens luxation Hypertelorism Short stature Hydronephrosis Atrial septal defect Nystagmus Nephritis Constipation Kyphoscoliosis Gliosis Full cheeks Long face Recurrent upper respiratory tract infections Protruding ear Thick eyebrow EEG abnormality Gingival overgrowth Short nose Umbilical hernia Hyperreflexia

Rare Symptoms - Less than 30% cases

Recurrent otitis media Flexion contracture Skeletal muscle atrophy Gait disturbance Ptosis Recurrent pneumonia Muscle weakness Talipes equinovarus Conjunctivitis Midface retrusion Respiratory failure Epiphora Scarring Abnormality of vision Keratoconjunctivitis Gingivitis Periodontitis Recurrent bronchitis Abnormality of the larynx Stomatitis Recurrent pharyngitis Poor wound healing Duodenal ulcer Premature loss of teeth Mandibular prognathia Abnormality of the gallbladder Abnormality of the mediastinum Abnormality of fontanelles Chronic irritative conjunctivitis Cervicitis Vaginitis Gastrointestinal inflammation Recurrent skin infections Dyspnea Hernia Autistic behavior Wide mouth Intellectual disability, profound Bruxism Wide nasal bridge Downslanted palpebral fissures Abnormality of the skeletal system Patent ductus arteriosus Anxiety Posteriorly rotated ears Macrotia Broad forehead Joint hypermobility Bulbous nose Motor delay Facial asymmetry High, narrow palate Aggressive behavior Coarse facial features Polyhydramnios Weak cry Apnea Paralysis Dolichocephaly Arachnodactyly Inability to walk Dental malocclusion Hepatitis Hemangioma Cavernous hemangioma Gastroesophageal reflux Encephalopathy Papule Irritability Abnormality of the dentition Intellectual disability, mild Clinodactyly of the 5th finger Hyperactivity Autism Dandy-Walker malformation Intellectual disability, severe Cerebellar hypoplasia Increased urinary hypoxanthine Hypouricemia Multicystic kidney dysplasia Horseshoe kidney Renal dysplasia Abnormality of the genital system Increased urinary taurine Vesicoureteral reflux Molybdenum cofactor deficiency Retinal detachment Xanthinuria Hyperextensible skin Confusion Xanthine nephrolithiasis Deeply set eye Joint laxity Glaucoma Cerebral atrophy Sensorineural hearing impairment Hypertension Cataract Frontal bossing Myoclonic spasms Abnormal muscle tone Blindness Spastic tetraplegia Peripheral demyelination Tetraparesis Ectopia lentis Recurrent pyelonephritis Axonal loss Opisthotonus Poor head control Spastic tetraparesis Macroglossia Inguinal hernia Narrow mouth Brachycephaly Progressive microcephaly Pectus excavatum Short neck Depressed nasal bridge Retrognathia Polydactyly Cleft palate Mesiodens Osteopenia Blepharophimosis Thin upper lip vermilion Intestinal malrotation Thin skin Blue sclerae High myopia Coarctation of aorta Nephrotic syndrome Mitral valve prolapse Microcornea Telecanthus Tapered finger Hypertonia Bruising susceptibility Talipes Dilatation Arthrogryposis multiplex congenita Short philtrum Short distal phalanx of toe Neuronal loss in central nervous system Prominent eyelashes Intellectual disability, progressive Pericardial effusion Hirsutism Anonychia Large for gestational age Metaphyseal widening Growth abnormality Spina bifida occulta Hemivertebrae Protruding tongue Generalized hirsutism Delayed eruption of teeth Thickened skin Hypertrichosis Thick lower lip vermilion Small nail Bilateral sensorineural hearing impairment Aortic root aneurysm Broad ribs Hepatosplenomegaly Hyperextensibility of the finger joints Overgrowth Aortic arch aneurysm Everted upper lip vermilion Congenital cataract Synophrys Generalized hypertrichosis Biliary atresia Brain atrophy Dystrophic fingernails Severe global developmental delay Large fontanelles Feeding difficulties in infancy Short distal phalanx of finger Gingival fibromatosis Long penis Colpocephaly Thin bony cortex Recurrent urinary tract infections Adducted thumb Exotropia Broad-based gait Short chin Pointed chin Cerebral visual impairment Lymphedema Hypohidrosis Dental crowding Tall stature Chronic diarrhea Long eyelashes Renal cyst Abnormality of the outer ear Sleep disturbance Hepatic failure Unsteady gait Nausea and vomiting Hypermetropia Abnormality of the pinna Intellectual disability, moderate Neonatal hypotonia Agenesis of corpus callosum Sacral dimple Increased intracranial pressure Obesity Heat intolerance Fulminant hepatic failure Tongue thrusting Hyperorality Cerebellar cortical atrophy Toenail dysplasia Episodic vomiting Periorbital fullness Delayed CNS myelination Concave nasal ridge Arachnoid cyst Prominent supraorbital ridges Abnormality of the periventricular white matter Palpebral edema Impaired pain sensation Poor eye contact Cellulitis 2-3 toe syndactyly Hypoplastic toenails Large hands Polycystic kidney dysplasia Hyporeflexia Absent speech Low anterior hairline Bilateral talipes equinovarus Hiatus hernia Abnormality of the mouth Distal arthrogryposis Absent septum pellucidum Fragile skin Abnormality of the sternum Prolonged bleeding time Atrophic scars Delayed cranial suture closure Abnormality of the coagulation cascade Diastasis recti Cerebral hemorrhage Bilateral cryptorchidism Congenital contracture Pterygium Congestive heart failure Cutis laxa Microretrognathia Joint dislocation Narrow palate Low hanging columella Generalized joint laxity Recurrent infections Cognitive impairment Headache Immunodeficiency Malar flattening Behavioral abnormality Diarrhea Vomiting Ventricular septal defect Epicanthus Delayed speech and language development Pain Ecchymosis Abnormality of the duodenum Hyperalgesia Decreased palmar creases Talipes valgus Flat forehead Endocarditis Abnormal anterior chamber morphology Dermal translucency Pneumothorax Splenomegaly Prolonged QTc interval Cardiomyopathy Respiratory distress Facial palsy Coloboma High forehead Joint hyperflexibility Stage 5 chronic kidney disease Nephropathy Areflexia Myopathy Respiratory insufficiency Proteinuria Dysphagia Fatigue Progressive visual loss Renal hypoplasia Anemia Macular degeneration Abnormality of the genitourinary system Chronic kidney disease Abnormality of the kidney Ophthalmoplegia Decreased level of plasminogen Progressive muscle weakness Sleep apnea External ophthalmoplegia Severe muscular hypotonia Edema Nephrocalcinosis EMG abnormality Narrow face Decreased liver function Decreased fetal movement Limb muscle weakness Renal insufficiency Hip dysplasia Waddling gait Microphthalmia Abnormal bleeding Generalized muscle weakness Reduced visual acuity Lower limb muscle weakness Pneumomediastinum Geographic tongue Cholelithiasis Platybasia Elevated serum creatinine Hydrocele testis Optic nerve coloboma Retinal coloboma High-frequency hearing impairment Ureteropelvic junction obstruction Hypercoagulability Pyelonephritis Bilateral renal hypoplasia Abnormality of the vasculature Mild proteinuria Optic nerve dysplasia Scleral staphyloma Renal malrotation Morning glory anomaly Orbital cyst Macular hyperpigmentation Ureterovesical junction obstruction Multiple renal cysts Soft skin Reduced factor XII activity Sinusitis Abnormality of the fallopian tube Abnormality of the middle ear Abnormality of the ovary Abnormality of the respiratory system Abnormality of the ear Chronic otitis media Venous thrombosis Hoarse voice Abnormality of the skin Arnold-Chiari type I malformation Otitis media Asthma Abnormality of the eye Pneumonia Visual loss Abnormality of metabolism/homeostasis Visual field defect Chorioretinal atrophy Severe vision loss Atrioventricular block Pyloric stenosis Hemiplegia Progressive neurologic deterioration Cachexia Abnormality of the metacarpal bones Cerebral palsy Abnormality of the fingernails Spastic paraparesis Paraparesis Truncal ataxia Postnatal microcephaly Fine hair Alzheimer disease Apraxia Generalized-onset seizure Underdeveloped nasal alae Short foot Wide nose Abnormality of movement Muscular dystrophy Attention deficit hyperactivity disorder Aplasia/Hypoplasia of the cerebellum Prolonged QT interval Developmental regression Short distal phalanx of the thumb Brachydactyly Hepatomegaly Gait apraxia Hypocapnia Nonprogressive encephalopathy Intermittent hyperventilation Abnormality of the antitragus Respiratory alkalosis Esodeviation Thoracic scoliosis Abnormal T-wave Astrocytosis Motor deterioration Developmental stagnation Alkalosis Hyperventilation Progressive encephalopathy Loss of speech Overweight Camptodactyly of finger Mental deterioration Ophthalmoparesis Facial diplegia Birth length greater than 97th percentile Slender toe Premature adrenarche Nocturnal hypoventilation Fractures of the long bones Diaphragmatic eventration Spherocytosis Head tremor Hypoventilation Hepatic hemangioma Neck muscle weakness Centrally nucleated skeletal muscle fibers Visual impairment Hypokinesia Long fingers Mask-like facies Neonatal respiratory distress Myotonia Respiratory failure requiring assisted ventilation Aldehyde oxidase deficiency Muscular hypotonia of the trunk Hypospadias Abnormality of the nervous system Rigidity Sulfite oxidase deficiency Gait ataxia Cerebral cortical atrophy Dementia Decreased urinary sulfate Increased urinary sulfite Kyphosis Cardiorespiratory arrest Reduced xanthine dehydrogenase activity Dystonia Increased urinary thiosulfate Decreased urinary urate Absent urinary urothione Tremor Spasticity Ataxia Diffuse cerebral atrophy Hair-pulling


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Telangiectasia, related diseases and genetic alterations Hepatomegaly and Unsteady gait, related diseases and genetic alterations