Fever, and Cerebral calcification

Diseases related with Fever and Cerebral calcification

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

Top matches:

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C Is also known as dihydropteridine reductase deficiency|dhpr deficiency|quinoid dihydropteridine reductase deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to dhpr deficiency|qdpr deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C

Aicardi-Goutieres syndrome is an autosomal recessive disorder characterized by onset of encephalopathy in the first year of life following normal early development. Affected infants typically show extreme irritability, intermittent unexplained fever, chilblains, progressive microcephaly, spasticity, dystonia, and profound psychomotor retardation. Laboratory studies show lymphocytosis and raised titers of alpha-interferon in the cerebrospinal fluid. Brain imaging may show white matter abnormalities, intracerebral calcifications, and cerebral atrophy. Many patients die in childhood (summary by Vogt et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 3; AGS3

Proteasome-associated autoinflammatory syndrome-3 is an autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. Additional features are highly variable, but may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications (summary by Brehm et al., 2015).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Failure to thrive
  • Anemia
  • Flexion contracture
  • Fever
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3; PRAAS3

Other less relevant matches:

Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1 ), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006).In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (OMIM ), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (OMIM ), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. Genetic Heterogeneity of Aicardi-Goutieres SyndromeSee also AGS2 (OMIM ), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B ) on chromosome 13q; AGS3 (OMIM ), caused by mutation in the RNASEH2C gene (OMIM ) on chromosome 11q13.2; AGS4 (OMIM ), caused by mutation in the RNASEH2A gene (OMIM ) on chromosome 19p13.13; AGS5 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20; AGS6 (OMIM ), caused by mutation in the ADAR1 gene (OMIM ) on chromosome 1q21; and AGS7 (OMIM ), caused by mutation in the IFIH1 gene (OMIM ) on chromosome 2q24.

AICARDI-GOUTIERES SYNDROME 1; AGS1 Is also known as cree encephalitis|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|ags|pseudotoxoplasmosis syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 1; AGS1

Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.

FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Is also known as stone man syndrome|fop|myositis ossificans progressiva

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBRODYSPLASIA OSSIFICANS PROGRESSIVA

This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. Cystinosis differs from the other lysosomal diseases inasmuch as acid hydrolysis, the principal enzyme function of lysosomes, is not known to play a role in the metabolic disposition of cystine. The fact that plasma levels are well below saturation indicates that the defect is a cellular one. Within the cell, cystine is compartmentalized with acid phosphatase and is membrane-bound as demonstrated by electron microscopy. Ferritin accumulates in the same organelle which appears to be the lysosome.

CYSTINOSIS, NEPHROPATHIC; CTNS Is also known as cystinosin, defect of|lysosomal cystine transport protein, defect of

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Cognitive impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about CYSTINOSIS, NEPHROPATHIC; CTNS

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

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

Top 5 symptoms//phenotypes associated to Fever and Cerebral calcification

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Fever and Cerebral calcification. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Thrombocytopenia

Uncommon Symptoms - Between 30% and 50% cases

Basal ganglia calcification Elevated hepatic transaminase Hepatosplenomegaly Hepatomegaly Failure to thrive Dystonia Splenomegaly Recurrent infections Short stature Generalized hypotonia Nystagmus Skin rash Dysphagia Cerebral atrophy Encephalopathy Cerebellar atrophy Growth delay Flexion contracture Pneumonia Cataract Renal insufficiency Cerebral cortical atrophy Erythema Abnormality of the liver Congestive heart failure Pain Myositis Purpura Congenital cataract Hearing impairment Arthritis Muscle weakness Spasticity Cognitive impairment Hyperreflexia Muscular hypotonia of the trunk Irritability Skeletal muscle atrophy Hypothyroidism Muscular hypotonia Hypertonia

Rare Symptoms - Less than 30% cases

Diabetes mellitus Hypogonadism Delayed skeletal maturation Generalized tonic-clonic seizures Hypertrophic cardiomyopathy Jaundice Cerebellar hypoplasia Specific learning disability Intellectual disability, severe Amenorrhea Status epilepticus Cardiomyopathy Myopathy Visual impairment High palate Low-set ears Vomiting Abnormal facial shape Psychosis Hypertelorism Polymicrogyria Cerebral visual impairment Dysmetria Kyphosis Short neck Metaphyseal widening Arrhythmia Hyponatremia Chronic kidney disease Pigmentary retinopathy Memory impairment Growth abnormality Depressivity Conductive hearing impairment Dementia Intellectual disability, mild Anal atresia Respiratory insufficiency Confusion Sensorineural hearing impairment Anxiety Scoliosis Delayed puberty Mental deterioration Proteinuria Abnormality of the pinna Photophobia Renal Fanconi syndrome Hallucinations Ventriculomegaly Schizophrenia Poor head control Hypochromic anemia Microcytic anemia Hypermelanotic macule Increased antibody level in blood Lipodystrophy Conjunctivitis Lymphopenia Hypertriglyceridemia Lymphadenopathy Scarring Arthralgia CSF lymphocytic pleiocytosis Lymphocytosis Hemiplegia Seborrheic dermatitis Finger swelling Progressive encephalopathy Tremor Myoclonus Abnormality of extrapyramidal motor function Progressive neurologic deterioration Delusions Episodic fever Hypoparathyroidism Leukodystrophy Hypoplasia of the corpus callosum Severe global developmental delay Pruritus Abnormality of the cerebral white matter Vitiligo Progressive microcephaly Panniculitis Blindness Tetraplegia Intellectual disability, profound Petechiae Postnatal microcephaly Peripheral demyelination Feeding difficulties Glaucoma Psychotic episodes Feeding difficulties in infancy Abnormality of the skeletal system Abnormal cerebellum morphology Duodenal stenosis Central nervous system degeneration Generalized myoclonic seizures Sudden cardiac death Vascular ring Arteria lusoria Postural instability Aplasia of the thymus Muscle cramps Coma Polyneuropathy Nephropathy Hirsutism Nausea Lactic acidosis Peripheral axonal neuropathy Vertigo Ichthyosis Paresthesia Sensory impairment Hip dysplasia Migraine Juvenile rheumatoid arthritis Right aortic arch with mirror image branching Sacral meningocele Unilateral lung agenesis Unilateral primary pulmonary dysgenesis Ataxia Ptosis Perineal fistula Pulmonary artery atresia Atrial fibrillation Ventricular hypertrophy Increased serum lactate Motor delay Pulmonary arterial hypertension Type II diabetes mellitus Nephrotic syndrome Hypertension Bilateral sensorineural hearing impairment Peripheral neuropathy Generalized-onset seizure Dysarthria Abnormality of the cardiovascular system Malabsorption Arthrogryposis multiplex congenita Nausea and vomiting Platybasia Rod-cone dystrophy Aplasia of the uterus Graves disease Interrupted aortic arch Perimembranous ventricular septal defect Gait disturbance Retinal vascular tortuosity Constipation Paranoia Elevated serum creatine phosphokinase Abdominal pain Mood swings Hyporeflexia Areflexia Fatigue Right aortic arch Visual loss Headache Abnormality of the dentition Diarrhea Impaired T cell function Osteoporosis Gait ataxia Carious teeth Protruding ear Ophthalmoplegia Respiratory distress Lethargy Dilated cardiomyopathy Neurological speech impairment Stroke Attention deficit hyperactivity disorder Nyctalopia Conotruncal defect Developmental regression Giant platelets Apnea Myalgia EEG abnormality Gastroesophageal reflux Acidosis Optic atrophy Velopharyngeal insufficiency Congenital conductive hearing impairment Autism Weight loss Dyspnea Vestibular dysfunction Hemiparesis Cerebral ischemia Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Stroke-like episode Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Wolff-Parkinson-White syndrome Dysesthesia Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Heart block Xerostomia Motor polyneuropathy Psychomotor deterioration Abnormality of visual evoked potentials Abnormal mitochondrial morphology Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Paronychia Muscle fiber atrophy Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Tubulointerstitial abnormality Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Neonatal hypoglycemia Hashimoto thyroiditis Hypertrichosis Pancreatitis Hypercalciuria Decreased nerve conduction velocity Cachexia Atrioventricular block Easy fatigability Hyperkinesis Goiter Mutism Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Macular degeneration Aortic aneurysm Exercise intolerance Type I diabetes mellitus Hypogonadotrophic hypogonadism Generalized hirsutism EMG abnormality Truncal ataxia Cardiac arrest Clonus Abnormality of retinal pigmentation Gingival overgrowth Anorexia Left ventricular hypertrophy Decreased body weight Involuntary movements Bilateral ptosis Abnormality of mitochondrial metabolism Atopic dermatitis Visual field defect Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Rhabdomyolysis Hyperthyroidism Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Hyperkalemia Ophthalmoparesis Dysphasia Echolalia Aphasia Bundle branch block Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Abnormality of the endocrine system Hypospadias Myelomeningocele Aspiration Broad neck Exostoses Ankylosis Alopecia of scalp Hamartoma Spinal rigidity Hallux valgus Back pain Sarcoma Widely spaced teeth Finger clinodactyly Abnormal vertebral morphology Short 1st metacarpal Short thumb Subcutaneous nodule Myocardial infarction Limitation of joint mobility Hypotrichosis Respiratory tract infection Difficulty walking Respiratory failure Alopecia Clinodactyly of the 5th finger Clinodactyly Neoplasm Short hallux Broad femoral neck Increased CSF protein Aplasia/Hypoplasia of the phalanges of the hallux Thick lower lip vermilion Cardiomegaly Prominent nose Macroglossia Inability to walk Camptodactyly of finger Osteopenia Macrotia Hyperhidrosis Babinski sign Edema Abnormality of the first metatarsal bone Stiff neck Progressive cervical vertebral spine fusion Ectopic ossification in tendon tissue Ectopic ossification in ligament tissue Ectopic ossification in muscle tissue Small cervical vertebral bodies Ectopic ossification Fibrosarcoma Osteochondroma Synostosis of joints Soft tissue sarcoma Low-grade fever Overbite Congenital microcephaly Lissencephaly Bone pain Bronchiolitis obliterans organizing pneumonia Spastic diplegia Systemic lupus erythematosus Encephalitis Cerebral palsy Leukoencephalopathy Spastic tetraplegia Hepatitis Brain atrophy Agenesis of corpus callosum Dilatation Strabismus Bronchiolitis obliterans Prolonged neonatal jaundice Bronchiolitis Calcinosis Keratitis Hypercholesterolemia Sinusitis Inflammatory abnormality of the skin Muscle stiffness Delayed myelination Hyperphenylalaninemia Folate deficiency Excessive salivation Choreoathetosis Congenital glaucoma Atrophy/Degeneration affecting the brainstem Spastic tetraparesis Microphthalmia Microretrognathia Opacification of the corneal stroma Decreased liver function Pachygyria Tetraparesis Sloping forehead Neuronal loss in central nervous system Gliosis Abnormality of movement Corneal opacity Micropenis Long philtrum Acrocyanosis Anteverted nares Micrognathia Increased CSF interferon alpha Deep white matter hypodensities Chronic CSF lymphocytosis Chilblains Multiple gastric polyps Autoamputation CSF pleocytosis Vegetative state Morphological abnormality of the pyramidal tract Diffuse cerebral atrophy Hyperpigmentation of the skin Elbow flexion contracture Truncus arteriosus Bifid uvula Hypocalcemia Spina bifida Renal dysplasia Open mouth Primary amenorrhea Low posterior hairline Tetralogy of Fallot Renal agenesis Underdeveloped nasal alae Vesicoureteral reflux Chorea Hemolytic anemia Narrow palpebral fissure Bulbous nose Pulmonic stenosis Autoimmunity Blepharophimosis Aggressive behavior Umbilical hernia Retrognathia Hyperactivity Posteriorly rotated ears Inguinal hernia Abnormal heart morphology Patent ductus arteriosus Multicystic kidney dysplasia Holoprosencephaly Hernia Myopathic facies Pierre-Robin sequence Meningocele Hearing abnormality Bipolar affective disorder Posterior embryotoxon Anal stenosis Autoimmune thrombocytopenia Submucous cleft hard palate Axonal loss Autoimmune hemolytic anemia Abnormality of the ear Inflammation of the large intestine Bicuspid aortic valve Hypoplasia of the brainstem Acne Unilateral renal agenesis Obsessive-compulsive behavior Apathy Psoriasiform dermatitis Rheumatoid arthritis Dysdiadochokinesis Cholelithiasis Nasal speech Abnormality of the hand Arnold-Chiari malformation Obesity Absent speech Glucose intolerance Retinopathy Rickets Polydipsia Failure to thrive in infancy Hypohidrosis Nephrolithiasis Dehydration Generalized muscle weakness Hypopigmentation of the skin Abnormality of skin pigmentation Stage 5 chronic kidney disease Genu valgum Frontal bossing Polyuria Adipose tissue loss Stiff skin Episcleritis Erythema nodosum Flexion contracture of toe Generalized lipodystrophy Immune dysregulation Clubbing of fingers Abnormally large globe Rimmed vacuoles Elevated erythrocyte sedimentation rate Long fingers Oral-pharyngeal dysphagia Glycosuria Abnormality of cardiovascular system morphology Retinal pigment epithelial mottling Immunodeficiency Behavioral abnormality Atrial septal defect Hydrocephalus Ventricular septal defect Delayed speech and language development Cleft palate Elevated intracellular cystine Oral motor hypotonia Episodic metabolic acidosis Rachitic rosary Corneal crystals Male infertility Generalized aminoaciduria Primary hypothyroidism Hypophosphatemic rickets Recurrent corneal erosions Decreased plasma carnitine Male hypogonadism Heat intolerance Preeclampsia Flushing Microscopic hematuria Exocrine pancreatic insufficiency Hypopigmentation of hair Prominent ear helix


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