Edema, and Schizophrenia

Diseases related with Edema and Schizophrenia

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

Top matches:

Congenital adrenal hypoplasia (AHC) is a rare disorder that can be inherited in an X-linked or autosomal recessive (see {240200}) pattern. In X-linked AHC, primary adrenocortical failure occurs because the adrenal glands lack the permanent adult cortical zone. The remaining cells are termed 'cytomegalic' because they are larger than typical fetal adrenal cells (Hay et al., 1981; Reutens et al., 1999).Patients with AHC usually present in early infancy with primary adrenal failure. Hypogonadotropic hypogonadism (HHG) is a hallmark of the disorder, and is recognized during adolescence because of the absence or interruption of normal pubertal development. Abnormal spermatogenesis has also been observed in these patients. Milder forms of the disease have been described, with adrenal insufficiency sometimes occurring in childhood or even early adulthood. A few cases of partial HHG have been reported (summary by Raffin-Sanson et al., 2013). Transient precocious sexual development in infancy or early childhood can be a prominent feature of AHC (Landau et al., 2010).A contiguous gene syndrome involving a combination of congenital adrenal hypoplasia, glycerol kinase deficiency (OMIM ), and Duchenne muscular dystrophy (DMD ) is caused by deletion of multiple genes on chromosome Xp21 (see {300679}).

CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA Is also known as ahch|cytomegalic adrenocortical hypoplasia|x-linked congenital adrenal hypoplasia|adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism|ahc with isolated gonadotropin deficiency|addison disease, x-linked|ahx|ahc with hhg

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Cryptorchidism
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA

Classic homocystinuria is an autosomal recessive metabolic disorder of sulfur metabolism. The clinical features of untreated homocystinuria due to CBS deficiency usually manifest in the first or second decade of life and include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome (MFS ), and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. There are 2 main phenotypes of the classic disorder: a milder pyridoxine (vitamin B6)-responsive form, and a more severe pyridoxine-nonresponsive form. Pyridoxine is a cofactor for the CBS enzyme, and can aid in the conversion of homocysteine to cysteine (summary by Reish et al., 1995 and Testai and Gorelick, 2010).Some patients have been reported to have a milder form of homocystinuria, which is characterized by increased plasma homocysteine and increased risk for thrombotic events in young adulthood, but without the other skeletal, ocular, or nervous system manifestations observed in classic homocystinuria (Kelly et al., 2003).

HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY Is also known as cystathionine beta-synthase deficiency|cbs deficiency|homocystinuria with or without response to pyridoxine

Related symptoms:

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • High palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY

Medium match WILSON DISEASE

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

Other less relevant matches:

Low match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

SCHIZOPHRENIA 18; SCZD18 Is also known as schizophrenia 18 with or without an affective disorder

Related symptoms:

  • Schizophrenia


SOURCES: OMIM MENDELIAN

More info about SCHIZOPHRENIA 18; SCZD18

SCHIZOPHRENIA 4; SCZD4 Is also known as schizophrenia susceptibility locus, chromosome 22q11-related

Related symptoms:

  • Abnormality of metabolism/homeostasis
  • Schizophrenia


SOURCES: OMIM MENDELIAN

More info about SCHIZOPHRENIA 4; SCZD4

Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

SCHIZOPHRENIA 19; SCZD19 Is also known as schizophrenia 19 with or without an affective disorder

Related symptoms:

  • Behavioral abnormality
  • Psychosis
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: OMIM MENDELIAN

More info about SCHIZOPHRENIA 19; SCZD19

Top 5 symptoms//phenotypes associated to Edema and Schizophrenia

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Osteoporosis Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Schizophrenia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Depressivity Hearing impairment Growth delay Behavioral abnormality Ptosis Feeding difficulties in infancy Hypercalciuria Psychosis Short stature Pectus excavatum Inguinal hernia Microcephaly Stroke Sensorineural hearing impairment Postural instability Neurological speech impairment Attention deficit hyperactivity disorder Muscular hypotonia Feeding difficulties Hypothyroidism Spasticity Dysarthria Tremor Cerebral atrophy Abnormality of the dentition Cataract Congestive heart failure Anxiety Proteinuria Nausea and vomiting Constipation Involuntary movements Hypogonadotrophic hypogonadism Cryptorchidism Vomiting Hypogonadism Dehydration

Rare Symptoms - Less than 30% cases

Hypertonia Intellectual disability, mild Atrial septal defect Short neck Respiratory distress Myopathy High forehead Osteopenia Renal insufficiency Kyphosis Gait disturbance Elevated serum creatine phosphokinase Delayed skeletal maturation Ventricular septal defect Pes planus Cerebellar hypoplasia Patent ductus arteriosus Diabetes mellitus Ventriculomegaly Tubulointerstitial abnormality Optic atrophy Hypertelorism Nephrocalcinosis Abnormality of mitochondrial metabolism Personality changes Hypoparathyroidism Renal tubular dysfunction Abnormal heart morphology Ataxia Clinodactyly of the 5th finger Hyperreflexia Recurrent respiratory infections Pain Long philtrum Cognitive impairment Short nose Visual impairment Hypertension Intrauterine growth retardation Macrocephaly Abdominal pain Smooth philtrum Amblyopia Chronic constipation Bipolar affective disorder Tubulointerstitial nephritis Infantile muscular hypotonia Cerebral ischemia Gait imbalance Scoliosis Aortic valve stenosis Generalized hypotonia Ischemic stroke Abnormal form of the vertebral bodies Coarctation of aorta Microdontia Intellectual disability, moderate Low-set, posteriorly rotated ears Craniosynostosis Abnormal cardiac septum morphology Otitis media Small for gestational age Urethral stenosis Gingival overgrowth Cerebral cortical atrophy Abnormal facial shape Autism Wide nasal bridge Epicanthus Depressed nasal bridge Gastroesophageal reflux Hypertrophic cardiomyopathy Flexion contracture Developmental regression Protruding ear Strabismus Hemiparesis Carious teeth Malabsorption Anal atresia Dysmetria Micrognathia Sudden cardiac death Abnormality of the cardiovascular system Increased body weight Ventricular hypertrophy Type II diabetes mellitus Hernia Paresthesia Abnormality of the liver Confusion Arthralgia Obsessive-compulsive behavior Jaundice Aggressive behavior Kyphoscoliosis Glaucoma Myocardial infarction Pruritus Dementia Coma Polyneuropathy Bruising susceptibility Myopia Transient ischemic attack Pulmonary embolism Nausea Peripheral axonal neuropathy Hepatic steatosis Weight loss Thrombocytopenia Azoospermia Precocious puberty Hepatomegaly Pancreatitis Peripheral neuropathy Hyponatremia Mitral valve prolapse Delayed puberty Adrenal insufficiency Dysphagia Primary adrenal insufficiency Dystonia Anemia Hypoglycemia Nephrolithiasis Fatigue Double outlet right ventricle Abnormal eyelash morphology Hand polydactyly Missing ribs Transposition of the great arteries Trigonocephaly Wheezing Ectropion Natal tooth Slender finger Partial agenesis of the corpus callosum Atrioventricular canal defect Hypoplastic left heart Aplasia/Hypoplasia of the eyebrow Flat occiput Hammertoe Heart murmur Chorioretinal coloboma Dyslexia Duodenal atresia Diastasis recti Abnormality of the curvature of the vertebral column Abnormality of the anus Annular pancreas Internal hemorrhage Arteria lusoria Bilateral camptodactyly Congenital thrombocytopenia Megakaryocyte dysplasia Cleft palate Giant platelets Delayed speech and language development Malar flattening Midface retrusion Absent speech Retinal arteriolar tortuosity Obesity Micropenis Macrotia Toe clinodactyly Macular hypoplasia Retinal dysplasia Aplasia/Hypoplasia of the earlobes Pelvic kidney Eyelid coloboma Food intolerance Ectopic anus Mitral stenosis Broad hallux phalanx Nuclear cataract Labial hypoplasia Clitoral hypoplasia Abnormal thrombocyte morphology Broad columella Nasolacrimal duct obstruction Abnormality of the head Long hallux Hyperacusis U-Shaped upper lip vermilion Central hypothyroidism Pyloric stenosis Spina bifida Infantile hypercalcemia Telecanthus Finger syndactyly Skin rash Calcification of the aorta Coloboma Unilateral renal hypoplasia Postnatal growth retardation Camptodactyly Myxomatous mitral valve degeneration Paroxysmal bursts of laughter Abnormal carotid artery morphology Abnormality of the diencephalon Medial flaring of the eyebrow Elfin facies Bilateral vocal cord paralysis Thyroid hemiagenesis Impaired visuospatial constructive cognition Nystagmus-induced head nodding Overfriendliness Hydronephrosis Early onset of sexual maturation Dyssynergia Thin upper lip vermilion Retrognathia Stellate iris Functional abnormality of male internal genitalia Descending aorta hypoplasia Vocal cord dysfunction Prominent forehead Agenesis of corpus callosum Atrophy/Degeneration involving the corticospinal tracts Leukemia Hip dislocation Tachypnea Pancytopenia Abnormality of the gastric mucosa Abnormal palate morphology Holoprosencephaly Multicystic kidney dysplasia Horseshoe kidney Bone marrow hypocellularity Umbilical hernia Renovascular hypertension Leukodystrophy Short toe Sinusitis Short thumb Abnormal social behavior Pachygyria Eczema Dolichocephaly Single transverse palmar crease Toe syndactyly Narrow chest Facial asymmetry Talipes Tachycardia Iris coloboma Microcornea Flat cornea Supravalvular aortic stenosis Premature birth Intestinal malrotation Decreased antibody level in blood Webbed neck Growth hormone deficiency Coarse facial features Corneal opacity Joint laxity Chronic otitis media Abnormality of the voice Periorbital edema Peptic ulcer Cystic renal dysplasia Nephritis Bladder diverticulum Lacrimation abnormality Arterial stenosis Unilateral renal agenesis Abnormality of dental morphology Hypoplastic toenails Tracheoesophageal fistula Glucose intolerance Polyuria Rectal prolapse Portal hypertension Open bite Cholelithiasis Abnormality of pelvic girdle bone morphology Incoordination Polycystic ovaries Increased nuchal translucency Abnormal glucose tolerance Dysphonia Parathyroid hyperplasia Radioulnar synostosis Redundant skin Hypercalcemia Phonophobia Abnormality of nervous system morphology Failure to thrive in infancy Dysgraphia Loss of consciousness Hallux valgus Reduced bone mineral density Blue irides Multiple renal cysts Down-sloping shoulders Peripheral pulmonary artery stenosis Decreased plasma carnitine Periorbital fullness Vocal cord paralysis Hypoplasia of the zygomatic bone Abnormality of the vasculature Right ventricular hypertrophy Large earlobe Abnormality of refraction Abnormality of the neck Abnormality of the cerebral vasculature Enuresis Patellar dislocation Pulmonary artery stenosis Premature graying of hair Insomnia Vertebral segmentation defect Celiac disease High hypermetropia Prematurely aged appearance Facial cleft Restlessness Megalocornea Poor coordination Abnormal renal morphology Abnormality of lipid metabolism Posterior embryotoxon Subvalvular aortic stenosis Arnold-Chiari type I malformation Nevus flammeus Soft skin Adducted thumb Arnold-Chiari malformation Cleft lip Full cheeks Thick vermilion border Everted lower lip vermilion Sleep disturbance Hypodontia Broad nasal tip Macroglossia Chest pain Oral cleft Vesicoureteral reflux Dental malocclusion Esotropia Renal agenesis Synostosis of joints Tetralogy of Fallot Abnormality of the bladder Joint hyperflexibility Hypotelorism Wide mouth Abnormality of the kidney Hyperlordosis Irritability Autistic behavior Paralysis Joint stiffness Blepharophimosis Renal artery stenosis Scarring Broad forehead Villous atrophy Pulmonic stenosis Coronary artery stenosis Genu valgum Narrow forehead Nocturia Retinal vascular tortuosity Spina bifida occulta Colonic diverticula Renal duplication Hemivertebrae Abnormality of dental enamel Aplasia/Hypoplasia of the iris Abnormality of the fingernails Cutis laxa Vascular tortuosity Abnormal endocardium morphology Abnormal dermatoglyphics Progressive hearing impairment Thyroid hypoplasia Widely spaced teeth Bicuspid aortic valve Pointed chin Increased bone mineral density Hypoplasia of penis Aortic arch aneurysm Abnormality of extrapyramidal motor function Cardiomegaly Hypsarrhythmia Renal hypoplasia Small nail Obsessive-compulsive trait Thick lower lip vermilion Narrow face Recurrent otitis media Open mouth Mitral regurgitation Recurrent urinary tract infections Hoarse voice Overriding aorta Abnormality of the ankles Sacral dimple Speech apraxia Clinodactyly Mixed demyelinating and axonal polyneuropathy Premature osteoarthritis Hypocupremia Poor motor coordination Hypersexuality Acute hepatitis High nonceruloplasmin-bound serum copper Kayser-Fleischer ring Retinoblastoma Atypical or prolonged hepatitis Nystagmus Muscle weakness Motor delay Fever Skeletal muscle atrophy Abnormality of the menstrual cycle Proximal muscle weakness in lower limbs Cardiomyopathy Joint swelling Global brain atrophy Pathologic fracture Glycosuria Osteomalacia Arthropathy Abnormality of blood and blood-forming tissues Hepatocellular carcinoma Menstrual irregularities Hand tremor Increased reactive oxygen species production Acute hepatic failure Chondrocalcinosis Esophageal varix Hyperphosphaturia Neoplasm of the liver Respiratory insufficiency Blindness Back pain Congenital cataract Nyctalopia Dilated cardiomyopathy Generalized tonic-clonic seizures Lethargy Arthrogryposis multiplex congenita Ophthalmoplegia Ichthyosis Abnormality of the pinna Vertigo Lactic acidosis Polymicrogyria Hirsutism Nephropathy Muscle cramps Abnormal cerebellum morphology Erythema Mental deterioration Cerebellar atrophy Hyporeflexia Diarrhea Headache Encephalopathy Visual loss Arrhythmia Areflexia Rod-cone dystrophy Apnea Myoclonus Gait ataxia Dyspnea Acidosis Photophobia EEG abnormality Myalgia Oral-pharyngeal dysphagia Abnormality of the hand Sensory impairment Hypopigmentation of the skin High palate Abnormality of the skeletal system Dilatation Pectus carinatum Arachnodactyly Retinal detachment Limitation of joint mobility Absence of pubertal development Dental crowding Tall stature Aspiration Atherosclerosis Brittle hair Ectopia lentis Cutis marmorata Adrenocortical hypoplasia Congenital adrenal hypoplasia Thromboembolism Adrenal hyperplasia Muscular dystrophy Asthma Hyperpigmentation of the skin Accelerated skeletal maturation Shock Adrenal hypoplasia Renal salt wasting Abnormal spermatogenesis Oligospermia Decreased circulating cortisol level High-frequency hearing impairment Gonadotropin deficiency Long penis Decreased circulating aldosterone level Congenital adrenal hyperplasia Disproportionate tall stature Peripheral arterial stenosis Drooling Cholestasis Hepatic failure Hemolytic anemia Ascites Hepatitis Progressive neurologic deterioration Osteoarthritis Clumsiness Cirrhosis Decreased liver function Bone pain Muscle stiffness Spontaneous abortion Aminoaciduria Leukopenia Leukoencephalopathy Joint hypermobility Poor speech Generalized osteoporosis Neoplasm Precocious atherosclerosis Cerebral edema Homocystinuria Biconcave vertebral bodies Personality disorder Hypermethioninemia Splenomegaly Infertility Hepatosplenomegaly Difficulty walking Rigidity Elevated hepatic transaminase Arthritis Abnormality of the nervous system Abnormality of the cerebral white matter Generalized myoclonic seizures Migraine Hypospadias Dysesthesia Proximal tubulopathy Ileus Hemianopia Abnormality of the renal tubule Episodic vomiting Motor polyneuropathy Psychomotor deterioration Retinal pigment epithelial atrophy Muscle fiber atrophy Writer's cramp Persistence of primary teeth Leber optic atrophy Spontaneous hematomas Gastroparesis Abnormality of peripheral nerve conduction Left ventricular failure Auditory hallucinations Cardiorespiratory arrest Xerostomia Heart block Mitochondrial myopathy Progressive external ophthalmoplegia Posterior subcapsular cataract Delusions Facial diplegia Seborrheic dermatitis Aortic dissection Visual hallucinations Increased CSF lactate Wolff-Parkinson-White syndrome Reduced consciousness/confusion Anterior hypopituitarism Stroke-like episode Amaurosis fugax Abnormal nerve conduction velocity Neonatal hypoglycemia Frontal bossing Morphological abnormality of the vestibule of the inner ear Morphological abnormality of the inner ear Prominent ear helix Low-set ears Brachydactyly Downslanted palpebral fissures Talipes equinovarus Episodic quadriplegia Anteverted nares Hydrocephalus Syndactyly Immunodeficiency Microphthalmia Recurrent infections Abnormality of cardiovascular system morphology Bilateral intracranial calcifications Abnormality of acid-base homeostasis Renal Fanconi syndrome Paronychia Psychotic episodes Abnormality of the cerebellar vermis Crohn's disease Hemeralopia Abnormal macular morphology Spotty hypopigmentation Abnormal mitochondrial morphology Homonymous hemianopia Edema of the dorsum of hands Cochlear malformation Progressive night blindness Cochlear degeneration Abnormal mitochondrial shape Paralytic ileus Abnormal cochlea morphology Vitiligo Abnormality of visual evoked potentials Increased serum lactate Exercise intolerance Clonus Cardiac arrest Truncal ataxia EMG abnormality Generalized hirsutism Type I diabetes mellitus Purpura Hallucinations Macular degeneration External ophthalmoplegia Reduced tendon reflexes Ragged-red muscle fibers Hypopigmented skin patches Mutism Goiter Cerebral visual impairment Abnormality of retinal pigmentation Easy fatigability Generalized-onset seizure Memory impairment Hip dysplasia Specific learning disability Amenorrhea Cerebral calcification Pigmentary retinopathy Bilateral sensorineural hearing impairment Anorexia Nephrotic syndrome Pulmonary arterial hypertension Status epilepticus Atrial fibrillation Hypertrichosis Decreased body weight Left ventricular hypertrophy Hyperkinesis Growth abnormality Hashimoto thyroiditis Glomerulopathy Hyperkalemia Visual field defect Prolonged QT interval Multiple lipomas Vertebral fusion Progressive sensorineural hearing impairment Basal ganglia calcification Vestibular dysfunction Hyperthyroidism Rhabdomyolysis Thyroiditis Abnormality of immune system physiology Distal arthrogryposis Drowsiness Atopic dermatitis Dysphasia Aphasia Chronic kidney disease Ophthalmoparesis Atrioventricular block Cachexia Decreased nerve conduction velocity Bilateral ptosis Hemiplegia Aortic aneurysm Intestinal obstruction Bundle branch block Aplasia/Hypoplasia of the cerebellum Bifid scrotum Mask-like facies Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Abnormality of neuronal migration Overlapping toe Abnormality of metabolism/homeostasis


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