Fever, and Renal dysplasia

Diseases related with Fever and Renal dysplasia

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

Top matches:

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Other less relevant matches:

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

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

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

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.

HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE PARTIAL DEFICIENCY Is also known as hprt deficiency, grade i|hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial|hypoxanthine guanine phosphoribosyltransferase deficiency, grade i|hprt-related hyperuricemia|hprt1 partial deficiency|gout, hprt-related|hprt1 deficiency, parti

Related symptoms:

  • Fever
  • Renal insufficiency
  • Arthritis
  • Nephropathy
  • Nephrolithiasis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE PARTIAL DEFICIENCY

Related symptoms:

  • Fever
  • Renal insufficiency
  • Proteinuria
  • Scarring
  • Stage 5 chronic kidney disease


SOURCES: OMIM ORPHANET MENDELIAN

More info about C3 GLOMERULONEPHRITIS

Top 5 symptoms//phenotypes associated to Fever and Renal dysplasia

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

Other less frequent symptoms

Patients with Fever and Renal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Posteriorly rotated ears Generalized hypotonia High palate Hydronephrosis Hearing impairment Cleft palate Inguinal hernia Immunodeficiency Recurrent infections Short stature Abnormality of the pinna Bulbous nose Umbilical hernia Feeding difficulties Polycystic kidney dysplasia Behavioral abnormality Abnormal facial shape Renal agenesis Multicystic kidney dysplasia Agenesis of corpus callosum Absent speech Failure to thrive Cognitive impairment Psoriasiform dermatitis Abnormality of the genital system Unilateral renal agenesis Hypohidrosis Heat intolerance Ventricular septal defect Strabismus Abnormal heart morphology Intellectual disability, severe Delayed speech and language development Specific learning disability Hypoplasia of the corpus callosum Hernia Gait disturbance Scoliosis Ventriculomegaly Cryptorchidism Hypertelorism Conductive hearing impairment Telecanthus Cleft lip Blepharophimosis Respiratory distress Renal insufficiency Oligohydramnios Flexion contracture Obesity Pulmonary hypoplasia Cataract Meningocele Polydactyly Low-set ears Vesicoureteral reflux Arthritis Abnormality of the kidney Atrial septal defect Patent ductus arteriosus

Rare Symptoms - Less than 30% cases

Hydrocephalus Anemia Short neck Motor delay Coma Increased muscle lipid content Hypoglycemia Macrocephaly Fatigue Respiratory insufficiency Cardiomyopathy Vomiting Diarrhea Congestive heart failure Headache Depressivity Arrhythmia Elevated serum creatine phosphokinase Respiratory failure Acidosis High forehead Elevated hepatic transaminase Nonketotic hypoglycemia Aciduria Episodic vomiting Hypoketotic hypoglycemia Acute kidney injury Poor head control Hyperammonemia Cardiomegaly Renal cyst Respiratory tract infection Hepatomegaly Metabolic acidosis Hepatic steatosis Nausea and vomiting Congenital cataract Dilated cardiomyopathy Lethargy Bifid uvula Thrombocytopenia Arteria lusoria Myelomeningocele Juvenile rheumatoid arthritis Seborrheic dermatitis Aplasia of the uterus Graves disease Interrupted aortic arch Perimembranous ventricular septal defect Right aortic arch Impaired T cell function Duodenal stenosis Retinal vascular tortuosity Conotruncal defect Aplasia of the thymus Right aortic arch with mirror image branching Hypoparathyroidism Sacral meningocele Ptosis Microphthalmia Astigmatism Polymicrogyria High, narrow palate Neonatal hypotonia Hepatic failure Hypoplastic toenails Macrotia Nephrolithiasis Recurrent upper respiratory tract infections Scarring Nephropathy Truncus arteriosus Vitiligo Dementia Spina bifida Hyperactivity Hypothyroidism Retrognathia Anxiety Aggressive behavior Mental deterioration Autoimmunity Hemolytic anemia Chorea Amenorrhea Tetralogy of Fallot Low posterior hairline Primary amenorrhea Hypocalcemia Bipolar affective disorder Purpura Bicuspid aortic valve Arnold-Chiari malformation Schizophrenia Abnormality of the hand Nasal speech Cholelithiasis Rheumatoid arthritis Acne Inflammation of the large intestine Autoimmune hemolytic anemia Submucous cleft hard palate Autoimmune thrombocytopenia Posterior embryotoxon Pain Abnormality of cardiovascular system morphology Cleft upper lip Syndactyly Hand polydactyly Keratitis Short philtrum Hydroureter Microtia Photophobia Absent septum pellucidum Ectrodactyly Blepharitis Micropenis Hypoplasia of the thymus Recurrent corneal erosions Hyperkeratosis Abnormal retinal morphology Ataxia Growth delay Nystagmus Micrognathia Epicanthus Tremor Postaxial polydactyly Frontal bossing Dilatation Apnea Alopecia Oral cleft Recurrent respiratory infections Preaxial polydactyly Feeding difficulties in infancy Toe syndactyly Conjunctivitis Abnormality of the foot Ectodermal dysplasia Choanal atresia Broad nasal tip Omphalocele Nail dysplasia Anal atresia Malar flattening Abnormality of the dentition Gastroesophageal reflux Deeply set eye Iris coloboma Carious teeth EEG abnormality Coarctation of aorta Short palpebral fissure Intellectual disability, mild Autism Constipation Long-chain dicarboxylic aciduria Clinodactyly of the 5th finger Hyporeflexia Midface retrusion Wide nasal bridge Long philtrum Abnormality of the thymus Generalized tonic-clonic seizures Intellectual disability, moderate Narrow mouth Hypertonia Long eyelashes Broad-based gait Hepatitis Dental malocclusion Full cheeks Sleep disturbance Thick vermilion border Thick eyebrow Decreased plasma total carnitine Unsteady gait Facial asymmetry Hypermetropia Dolichocephaly Craniosynostosis Autistic behavior Protruding ear Irritability Attention deficit hyperactivity disorder Elevated serum long-chain fatty acids Tapered toe Antenatal intracerebral hemorrhage Alcoholism Elbow flexion contracture Sloping forehead Wide intermamillary distance Sclerocornea Tapered finger Tetany Anterior segment developmental abnormality Femoral hernia Prominent forehead Small for gestational age Narrow palate Perisylvian polymicrogyria Hyperreflexia Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Abnormality of the middle ear Esophoria Knee flexion contracture Ventricular arrhythmia Intracerebral periventricular calcifications Biventricular hypertrophy Vascular tortuosity Decreased plasma free carnitine Hepatic calcification Broad thumb Basal ganglia cysts Elevated long chain fatty acids Macrovesicular hepatic steatosis Increased total bilirubin Dicarboxylic aciduria Abnormality of nervous system morphology Overfolded helix Long toe Ureteral duplication Cystic renal dysplasia Hypothermia Chronic diarrhea Enlarged kidney Hyperkalemia Cerebral hemorrhage Amblyopia Exotropia Heart block Central Y-shaped metacarpal Tall stature Uveitis Oxycephaly Thin eyebrow Alopecia totalis Olivopontocerebellar atrophy Hypoplastic fingernail Follicular hyperkeratosis Corneal erosion Abnormal eyelid morphology Absent eyelashes Abnormal eyelash morphology Alopecia of scalp Parakeratosis Oligodactyly Cheilitis Atonic seizures Congenital ichthyosiform erythroderma Abnormality of the vertebral column Mixed hearing impairment Absent eyebrow Intestinal obstruction Bifid scrotum Erythroderma Scaling skin Urticaria Plagiocephaly Opacification of the corneal stroma Abnormality of dental enamel Alopecia universalis Abnormality of the upper urinary tract Hemivertebrae Gout Mesangial hypercellularity Macroscopic hematuria IgA deposition in the glomerulus Membranoproliferative glomerulonephritis Tubulointerstitial fibrosis Microscopic hematuria Glomerulonephritis Hematuria Stage 5 chronic kidney disease Proteinuria Podagra Excessive purine production Hyperuricosuria Hyperuricemia Corneal scarring Unilateral chest hypoplasia Ichthyosis follicularis Abnormal pelvis bone morphology Thin fingernail Scleritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Abnormality of temperature regulation Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Recurrent bacterial infections Abnormality of the nail Dental crowding Impaired pain sensation Fulminant hepatic failure Tongue thrusting Hyperorality Cerebellar cortical atrophy Toenail dysplasia Periorbital fullness Delayed CNS myelination Concave nasal ridge Bruxism Arachnoid cyst Abnormality of the periventricular white matter Palpebral edema Poor eye contact Recurrent pyelonephritis Weak cry Cellulitis 2-3 toe syndactyly Large hands Prominent supraorbital ridges Recurrent skin infections Increased intracranial pressure Abnormality of the outer ear Sacral dimple Accelerated skeletal maturation Short chin Pointed chin Lymphedema Hair-pulling Myopia Abnormality of the hair Platyspondyly Abnormal vertebral morphology Hypoplasia of dental enamel Aganglionic megacolon Epidermal acanthosis Abnormality of the ribs Eczema Postaxial hand polydactyly Brain atrophy Palmoplantar keratoderma Ichthyosis Dry skin Talipes Hypotrichosis Nail dystrophy Intrauterine growth retardation Papule Hip dislocation Corneal opacity Camptodactyly of finger Erythema Developmental regression Camptodactyly Cerebral cortical atrophy Hyperhidrosis Severe short stature Cerebellar hypoplasia Delayed skeletal maturation Kyphosis Cerebral visual impairment Velopharyngeal insufficiency Neoplasm Wide anterior fontanel Ragged-red muscle fibers Esotropia Spastic tetraparesis Pancreatitis Scapular winging Exercise intolerance Type I diabetes mellitus Cardiac arrest Clonus Leukodystrophy Decreased liver function Anorexia Abnormal cerebellum morphology Left ventricular hypertrophy Heterotopia Pachygyria Tetraparesis Dandy-Walker malformation Waddling gait Apraxia Increased serum lactate Gliosis Generalized muscle weakness Tetraplegia Mutism Easy fatigability Cerebellar vermis hypoplasia Progressive proximal muscle weakness Abnormal corpus callosum morphology Abnormality of the renal tubule Long face Proximal tubulopathy Medulloblastoma Exercise-induced myalgia Organic aciduria Chronic fatigue Excessive daytime somnolence Ketonuria Cardiorespiratory arrest Ketosis Slurred speech Myoglobinuria Drowsiness Fatigable weakness Highly arched eyebrow Rhabdomyolysis Glycosuria Difficulty climbing stairs Restrictive ventilatory defect Ventricular fibrillation Stridor Hemiplegia Back pain Muscle cramps Finger clinodactyly Acute pancreatitis Tongue nodules Hamartoma Encephalopathy Foot polydactyly Short femur Preaxial foot polydactyly Accessory oral frenulum Abnormal oral frenulum morphology Lobulated tongue Myopathy Edema Hamartoma of tongue Mesoaxial polydactyly Biparietal narrowing Dysphagia Episodic tachypnea Hypothalamic hamartoma Dysarthria Bulimia Hypoplasia of olfactory tract Depressed nasal bridge Mesoaxial hand polydactyly Spasticity Occipital meningocele Y-shaped metacarpals Muscle weakness Areflexia Partial agenesis of the corpus callosum Oculomotor apraxia Bilateral cryptorchidism Aplasia/Hypoplasia of the corpus callosum Lactic acidosis Nausea Joint hyperflexibility Limb muscle weakness Tachypnea Renal hypoplasia/aplasia Abnormality of the cerebral white matter Trigonocephaly Radial deviation of finger Abnormality of the liver Preaxial hand polydactyly Gait ataxia Hyperlordosis Hypertrophic cardiomyopathy Myalgia Proximal muscle weakness Abnormality of neuronal migration Molar tooth sign on MRI Difficulty walking Jaundice Arthralgia Tibial bowing Dyspnea Weight loss Loss of ability to walk Respiratory arrest Unilateral primary pulmonary dysgenesis Hypoplastic nipples Abnormality of the urinary system Anal stenosis Epiphora Axonal loss Basal ganglia calcification Abnormality of the ear Myopathic facies Hypoplasia of the brainstem Hypopituitarism Obsessive-compulsive behavior Apathy Xerostomia Hearing abnormality Dysdiadochokinesis Split foot Bilateral cleft lip Depressed nasal tip Blue irides Fair hair Holoprosencephaly Anodontia Narrow palpebral fissure Generalized hypopigmentation Sparse axillary hair Abnormality of the genitourinary system Delusions Hallucinations Paranoia Unilateral lung agenesis Hypoplasia of the maxilla Hypodontia Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Psychotic episodes Growth hormone deficiency Midline notch of upper alveolar ridge Giant platelets Microdontia Pierre-Robin sequence Sparse scalp hair Mood swings Platybasia Split hand Thin skin Sparse and thin eyebrow Hypogonadotrophic hypogonadism Pulmonary artery atresia Abnormality of the endocrine system Echolalia Sparse eyelashes Oligodontia Dysuria Open mouth Generalized aminoaciduria Glutaric acidemia Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Ethylmalonic aciduria Reye syndrome-like episodes Reduced protein C activity Elevated plasma acylcarnitine levels Ketotic hypoglycemia Arthralgia of the hip Abnormality of blood glucose concentration Gastrointestinal inflammation Narcolepsy Cataplexy Renal cortical cysts Limb tremor Impaired mastication Prominent nasal bridge Hypoglycemic coma Personality disorder Progressive spastic quadriplegia Glutaric aciduria Oliguria Electron transfer flavoprotein-ubiquinone oxidoreductase defect Low-set, posteriorly rotated ears Rectovaginal fistula Abnormality of the nasopharynx Sparse pubic hair Psychosis Peripheral demyelination Bladder diverticulum Underdeveloped nasal alae Central diabetes insipidus Selective tooth agenesis Nasolacrimal duct obstruction Duplicated collecting system Dysmetria Pulmonic stenosis Nail pits Abnormality of the nervous system Ureterocele Semilobar holoprosencephaly Dacryocystitis Urethral atresia Abnormal salivary gland morphology Transverse vaginal septum Absence of Stensen duct Slow-growing scalp hair Hypospadias Cerebellar atrophy Brachydactyly Clinodactyly Endocapillary hypercellularity


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