Fever, and Congenital cataract

Diseases related with Fever and Congenital cataract

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

Top matches:

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

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

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

High 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

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals have characteristic craniofacial features, cardiac defects, ectodermal anomalies, gastrointestinal dysfunction, and neurocognitive delay (summary by Rauen et al., 2010).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4

Low match NEPHROBLASTOMA

Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.

NEPHROBLASTOMA Is also known as wilms tumor|nephroblastoma|renal embryonic tumor

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Hypertension
  • Fever
  • Renal insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEPHROBLASTOMA

Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.

COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY Is also known as cid due to stim1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 2|stim1 deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Anemia
  • Myopathy
  • Diarrhea


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY

DENYS-DRASH SYNDROME; DDS Is also known as nephropathy, wilms tumor, and genital anomalies|drash syndrome|wilms tumor and pseudo- or true hermaphroditism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about DENYS-DRASH SYNDROME; DDS

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

Top 5 symptoms//phenotypes associated to Fever and Congenital cataract

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

Other less frequent symptoms

Patients with Fever and Congenital cataract. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Muscular hypotonia Strabismus Renal insufficiency Amenorrhea Motor delay Recurrent infections Hepatomegaly Thrombocytopenia Weight loss Cerebral cortical atrophy Anemia Hearing impairment Short stature Abnormal facial shape Microcephaly Muscle weakness Cognitive impairment Tremor Purpura Cerebral atrophy Nephrotic syndrome Ataxia Lethargy Myalgia Dysmetria Peripheral demyelination Primary amenorrhea Basal ganglia calcification Abnormality of the pinna Hypertension Rhabdomyolysis Encephalopathy Depressivity Diarrhea Myopathy Respiratory insufficiency Feeding difficulties Cerebral calcification Scoliosis Hypertrophic cardiomyopathy Spasticity Hepatosplenomegaly Abnormality of the liver Cardiomyopathy Jaundice Cerebellar atrophy Elevated hepatic transaminase Neoplasm Cerebellar hypoplasia Failure to thrive Tetraplegia Ventriculomegaly

Rare Symptoms - Less than 30% cases

Hypoplasia of the corpus callosum Hemolytic anemia Nausea Lactic acidosis Nausea and vomiting Abnormality of the cerebral white matter Immunodeficiency Dilated cardiomyopathy Telecanthus High forehead Episodic fever Coma Glomerulopathy Acidosis Headache Dysphagia Dementia Anxiety Respiratory distress Mental deterioration Vomiting Congestive heart failure Behavioral abnormality Autoimmunity Dyspnea Hernia Arrhythmia Areflexia Elevated serum creatine phosphokinase Gait ataxia Pulmonic stenosis Anal atresia Increased serum lactate Muscle cramps Renal dysplasia Seborrheic dermatitis Drowsiness Schizophrenia Hemiplegia Delusions Male pseudohermaphroditism Aniridia Gonadal dysgenesis Nephroblastoma Hypoparathyroidism Gait disturbance Cardiorespiratory arrest Lymphadenopathy Vitiligo Proximal tubulopathy Episodic vomiting Abnormality of the renal tubule Autoimmune hemolytic anemia Hallucinations Psychosis Abnormality of the genital system Cardiac arrest Short neck Focal segmental glomerulosclerosis Left ventricular hypertrophy Anorexia Cleft palate Leukodystrophy Clonus Type I diabetes mellitus Specific learning disability Exercise intolerance Pancreatitis Ragged-red muscle fibers Mutism Poor head control Easy fatigability Pneumonia Fatigue Edema Hypothyroidism Abnormality of the dentition Chorea Polyneuropathy Tetraparesis Paresthesia Abdominal pain Generalized tonic-clonic seizures Proximal muscle weakness Hypoglycemia Hypogonadism Osteoporosis Kyphosis Proteinuria Abnormality of the skeletal system Muscular hypotonia of the trunk Feeding difficulties in infancy Peripheral neuropathy Polymicrogyria Petechiae Dysarthria Spastic tetraparesis Gliosis Cerebral visual impairment Decreased liver function Postnatal microcephaly Pachygyria Intellectual disability, profound Skin rash Status epilepticus Dystonia High palate Visual impairment Hyperreflexia Abnormality of peripheral nerve conduction Motor polyneuropathy Myoglobinuria Axonal loss Intellectual disability, severe Hypertonia Splenomegaly Nephropathy Micrognathia Microphthalmia Pain Psychotic episodes Micropenis Hypertelorism Growth delay Hypogonadotrophic hypogonadism Atopic dermatitis Sudden cardiac death Distal arthrogryposis Pulmonary embolism Generalized myoclonic seizures Primary adrenal insufficiency Retinal pigment epithelial atrophy Thyroiditis Speech apraxia Stroke-like episode Hyperthyroidism Abnormality of immune system physiology Left ventricular failure Peripheral axonal neuropathy Hirsutism Abnormal cerebellum morphology Gait imbalance Wolff-Parkinson-White syndrome Increased CSF lactate Reduced consciousness/confusion Visual hallucinations Tubulointerstitial nephritis Postural instability Renal tubular dysfunction Aortic dissection Transient ischemic attack Hashimoto thyroiditis Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Anterior hypopituitarism Heart block Xerostomia Neonatal hypoglycemia Cerebral ischemia Abnormality of visual evoked potentials Facial diplegia Cachexia Progressive sensorineural hearing impairment EMG abnormality Ophthalmoparesis Hyponatremia Involuntary movements Decreased body weight Gingival overgrowth Abnormality of mitochondrial metabolism Aortic aneurysm Abnormality of retinal pigmentation Bilateral ptosis Hypercalciuria Truncal ataxia Generalized hirsutism Hemiparesis Decreased nerve conduction velocity Macular degeneration External ophthalmoplegia Reduced tendon reflexes Ischemic stroke Hypopigmented skin patches Goiter Hyperkinesis Growth abnormality Chronic kidney disease Ileus Atrioventricular block Hypertrichosis Personality changes Vertebral fusion Abnormality of the cardiovascular system Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Sensory impairment Migraine Memory impairment Hip dysplasia Vestibular dysfunction Pigmentary retinopathy Aphasia Bundle branch block Adrenal insufficiency Intestinal obstruction Overlapping toe Generalized-onset seizure Bilateral sensorineural hearing impairment Abnormality of neuronal migration Type II diabetes mellitus Pulmonary arterial hypertension Hemiplegia/hemiparesis Mask-like facies Ventricular hypertrophy Bifid scrotum Aplasia/Hypoplasia of the cerebellum Atrial fibrillation Dysphasia Neoplasm of the liver Hemianopia Glomerulonephritis Gonadal tissue inappropriate for external genitalia or chromosomal sex Ovarian gonadoblastoma True hermaphroditism Anuria Streak ovary Low-grade fever Uterus didelphys Ambiguous genitalia, female Diffuse mesangial sclerosis Ambiguous genitalia, male Abnormal renal physiology Gonadoblastoma Glomerulosclerosis Agenesis of corpus callosum Congenital diaphragmatic hernia Ambiguous genitalia Abdominal distention Stage 5 chronic kidney disease Pallor Abnormality of the kidney Intermittent diarrhea Recurrent lower respiratory tract infections Amelogenesis imperfecta Hypoplasia of the iris Anhidrosis Sarcoma Abnormality of dental enamel Dilatation Glaucoma Recurrent pneumonia Progressive encephalopathy Deep white matter hypodensities Chronic CSF lymphocytosis Chilblains CSF lymphocytic pleiocytosis Multiple gastric polyps Autoamputation CSF pleocytosis Lymphocytosis Vegetative state Morphological abnormality of the pyramidal tract Diffuse cerebral atrophy Acrocyanosis Atrophy/Degeneration affecting the brainstem Irritability Prolonged neonatal jaundice Congenital glaucoma Spastic diplegia Systemic lupus erythematosus Encephalitis Cerebral palsy Leukoencephalopathy Progressive microcephaly Spastic tetraplegia Abnormality of extrapyramidal motor function Hepatitis Brain atrophy Severe global developmental delay Recurrent bacterial infections Hypohidrosis Dysesthesia Hemeralopia Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Crohn's disease Episodic quadriplegia Abnormality of the cerebellar vermis Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Abnormality of acid-base homeostasis Bilateral intracranial calcifications Hypoplasia of dental enamel B-cell lymphoma Eczema Nail dysplasia Asthma Ichthyosis Hemihypertrophy Renal neoplasm Neoplasm of the lung Overgrowth Hematuria Abnormal ventricular septum morphology Abnormality of lateral ventricle Multiple lentigines Abnormal aortic valve morphology Heat intolerance Morphological abnormality of the vestibule of the inner ear Acute lymphoblastic leukemia Abnormality of the sternum Absent eyebrow Hyperextensible skin Optic nerve hypoplasia Narrow forehead Growth hormone deficiency Lymphoma Leukemia Hyperhidrosis Myopia Prominent ear helix Morphological abnormality of the inner ear Vertigo Unilateral renal agenesis Confusion Glycosuria Medulloblastoma Exercise-induced myalgia Hypoketotic hypoglycemia Organic aciduria Chronic fatigue Excessive daytime somnolence Ketonuria Progressive proximal muscle weakness Ketosis Fatigable weakness Acute kidney injury Difficulty climbing stairs Loss of ability to walk Restrictive ventilatory defect Ventricular fibrillation Stridor Back pain Polycystic kidney dysplasia Slurred speech Hyperammonemia Scapular winging Wide anterior fontanel Heterotopia Cardiomegaly Waddling gait Abnormal corpus callosum morphology Acute pancreatitis Generalized muscle weakness Arthralgia of the hip 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 Increased muscle lipid content Glutaric acidemia Gastrointestinal inflammation Respiratory arrest Narcolepsy Cataplexy Renal cortical cysts Limb tremor Impaired mastication Nonketotic hypoglycemia Hypoglycemic coma Personality disorder Progressive spastic quadriplegia Glutaric aciduria Oliguria Generalized aminoaciduria Aciduria Renal cyst Hepatic periportal necrosis Talipes equinovarus Interphalangeal joint contracture of finger Decreased testicular size Microcornea Sensory neuropathy Small hand Abnormal pyramidal sign Camptodactyly of finger Kyphoscoliosis Pes cavus Babinski sign Intellectual disability, mild Intrauterine growth retardation Split hand Congenital microcephaly Increased CSF protein Lissencephaly Microretrognathia Opacification of the corneal stroma Sloping forehead Neuronal loss in central nervous system Abnormality of movement Corneal opacity Long philtrum Anteverted nares Low-set ears Intention tremor Long eyelashes Metabolic acidosis Acute rhabdomyolysis Hepatic steatosis Pulmonary hypoplasia Joint hyperflexibility Limb muscle weakness Respiratory tract infection Hyperlordosis Difficulty walking Arthralgia Respiratory failure Macrocephaly Depressed nasal bridge Peripheral hypomyelination Upper limb postural tremor Hypergonadotropic hypogonadism Malar prominence Recurrent myoglobinuria Abnormality of the cervical spine Decreased serum estradiol Motor axonal neuropathy Genu recurvatum Malignant hyperthermia Secondary amenorrhea Axonal degeneration Decreased motor nerve conduction velocity Postural tremor CNS hypomyelination Defective dehydrogenation of isovaleryl CoA and butyryl CoA Electron transfer flavoprotein-ubiquinone oxidoreductase defect Delayed puberty Giant platelets Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Arteria lusoria Aplasia of the thymus Conotruncal defect Velopharyngeal insufficiency Retinal vascular tortuosity Sensorineural hearing impairment Paranoia Duodenal stenosis Impaired T cell function Right aortic arch Mood swings Platybasia Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Juvenile rheumatoid arthritis Pulmonary artery atresia Unilateral primary pulmonary dysgenesis Ptosis Echolalia Apnea Malabsorption Carious teeth Ophthalmoplegia Arthrogryposis multiplex congenita Pruritus Neurological speech impairment Stroke Attention deficit hyperactivity disorder Nyctalopia Erythema Protruding ear Developmental regression EEG abnormality Skeletal muscle atrophy Photophobia Gastroesophageal reflux Autism Diabetes mellitus Myoclonus Rod-cone dystrophy Constipation Delayed skeletal maturation Hyporeflexia Visual loss Blindness Optic atrophy Abnormality of the endocrine system Myelomeningocele Abnormality of blood glucose concentration Retrognathia Tetralogy of Fallot Renal agenesis Underdeveloped nasal alae Vesicoureteral reflux Bifid uvula Bulbous nose Blepharophimosis Aggressive behavior Arthritis Conductive hearing impairment Umbilical hernia Hyperactivity Open mouth Posteriorly rotated ears Inguinal hernia Abnormal heart morphology Patent ductus arteriosus Hypospadias Obesity Absent speech Abnormality of cardiovascular system morphology Atrial septal defect Hydrocephalus Ventricular septal defect Delayed speech and language development Low posterior hairline Spina bifida Truncus arteriosus Acne Pierre-Robin sequence Meningocele Hearing abnormality Bipolar affective disorder Posterior embryotoxon Anal stenosis Autoimmune thrombocytopenia Submucous cleft hard palate Abnormality of the ear Myopathic facies Inflammation of the large intestine Hypoplasia of the brainstem Obsessive-compulsive behavior Hypocalcemia Apathy Psoriasiform dermatitis Rheumatoid arthritis Dysdiadochokinesis Cholelithiasis Nasal speech Abnormality of the hand Arnold-Chiari malformation Bicuspid aortic valve Holoprosencephaly Narrow palpebral fissure Multicystic kidney dysplasia Increased CSF interferon alpha


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