{"Name":"Deficiency of galactokinase","DiseaseID__c":"GARD:0002422","id":2422,"encodedName":"deficiency-of-galactokinase","IsDeleted":false,"Disease_Name_Full__c":"Deficiency of galactokinase","Xref_IDs__c":"124302001; C0268155; C114767; DOID:14695; MEDGEN:120614; MONDO:0009255; OMIM:230200; ORPHA:79237","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009255","Disease_Description__c":"A rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.","GARD_Name__c":"Deficiency of galactokinase","GARD_Synonym__c":"galactokinase deficiency; galactokinase deficiency galactosemia; galactokinase deficiency with cataracts; galactosemia - galactokinase deficiency; galactosemia ii; galactosemia type 2; galk (galactokinase) deficiency; galk deficiency; galk-d","Curated_Disease_Description_Source__c":"GARD:0002422","Curated_Disease_Description__c":"Galactokinase deficiency (GALK), a mild type of galactosemia, is an inherited disorder that impairs the body's ability to process and produce energy from a simple sugar called galactose. If babies with GALK eat foods containing galactose, undigested sugars build up in the blood. Galactose is present in many foods, including all dairy products, many baby formulas, and some fruits and vegetables. Rarely, a child with GALK will have pseudotumor cerebri, a condition which mimics the symptoms of a large brain tumor when no brain tumor is present. This is thought to be caused by increased pressure in the brain from cerebrospinal fluid (CSF) due to elevated levels of a galactose product in the CSF. The serious medical problems that occur with \"classic\" galactosemia (type 1), such as liver, kidney, and brain damage, typically are not present in people with GALK. GALK is caused by genetic changes in the GALK1 gene and inheritance is autosomal recessive. The disorder may be suspected in babies with an abnormal newborn screening result, or in babies with cataracts. The diagnosis can be confirmed with biochemical and molecular genetic testing.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:79237","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009255","ORPHANET_ID__c":"ORPHA:79237","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de galactoquinasa","Spanish_Description_Source__c":"ORPHA:79237","Spanish_Description__c":"Es una forma rara leve de galactosemia caracterizada por una aparición temprana de cataratas y ausencia de los signos clásicos de la galacatosemia, como son problemas de alimentación, aumento insuficiente de peso y de crecimiento, letargo e ictericia.","Spanish_Disease_Name__c":"deficiencia de galactoquinasa","Spanish_GARD_Synonym__c":"deficiencia de galk; galactosemia por deficiencia de galactoquinasa; galactosemia tipo 2; galk-d","Category_Linearization__c":"ORPHA:68367","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Galactokinase deficiency (GALK), a mild type of galactosemia, is an inherited disorder that impairs the body's ability to process and produce energy from a simple sugar called galactose. If babies with GALK eat foods containing galactose, undigested sugars build up in the blood. Galactose is present in many foods, including all dairy products, many baby formulas, and some fruits and vegetables. Rarely, a child with GALK will have pseudotumor cerebri, a condition which mimics the symptoms of a large brain tumor when no brain tumor is present. This is thought to be caused by increased pressure in the brain from cerebrospinal fluid (CSF) due to elevated levels of a galactose product in the CSF. The serious medical problems that occur with \"classic\" galactosemia (type 1), such as liver, kidney, and brain damage, typically are not present in people with GALK. GALK is caused by genetic changes in the GALK1 gene and inheritance is autosomal recessive. The disorder may be suspected in babies with an abnormal newborn screening result, or in babies with cataracts. The diagnosis can be confirmed with biochemical and molecular genetic testing.","Curated_Disease_Description_Source__c":"GARD:0002422","GARD_Synonym__c":"galactokinase deficiency; galactokinase deficiency galactosemia; galactokinase deficiency with cataracts; galactosemia - galactokinase deficiency; galactosemia ii; galactosemia type 2; galk (galactokinase) deficiency; galk deficiency; galk-d","Name":"Deficiency of galactokinase","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"Galactosemia Foundation","Website__c":"https://www.galactosemia.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79237"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79237"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Secondary","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/GALK"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0268155"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002422","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/79237","Source__c":"C0268155; MONDO:0009255; ORPHA:79237","Xref__c":"ORPHA:79237"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=124302001","Source__c":"C0268155; MONDO:0009255","Xref__c":"124302001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120614","Source__c":"C0268155","Xref__c":"MEDGEN:120614"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C114767","Source__c":"C0268155; MONDO:0009255","Xref__c":"C114767"},{"URL__c":"https://www.omim.org/entry/230200","Source__c":"C0268155; MONDO:0009255; ORPHA:79237","Xref__c":"OMIM:230200"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14695","Source__c":"MONDO:0009255","Xref__c":"DOID:14695"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268155","Source__c":"C0268155","Xref__c":"C0268155"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009255","Source__c":"GARD:0002422","Xref__c":"MONDO:0009255"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GALK1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/galk1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79237","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Loss of previously present mental and motor abilities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002361","HPO_Synonym__c":"Psychomotor degeneration","HPO_Name__c":"Psychomotor deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79237","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000815","HPO_Synonym__c":"Hypergonadotrophic hypogonadism; Primary hypogonadism","HPO_Name__c":"Hypergonadotropic hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79237","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79237","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79237","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Simultaneous enlargement of the liver and spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001433","HPO_Synonym__c":"Enlarged liver and spleen","HPO_Name__c":"Hepatosplenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79237","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012379","HPO_Name__c":"Abnormal circulating enzyme concentration or activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79237","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011098","HPO_Synonym__c":"Apraxia of speech; Verbal dyspraxia","HPO_Name__c":"Speech apraxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79237","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001943","HPO_Synonym__c":"Hypoglycaemia; Low blood sugar","HPO_Name__c":"Hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79237","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79237","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79237","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004431","HPO_Synonym__c":"Complement deficiency","HPO_Name__c":"Reduced circulating complement concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79237","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79237","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased concentration of insulin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000842","HPO_Synonym__c":"Elevated insulin level","HPO_Name__c":"Hyperinsulinemia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79237","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79237","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008209","HPO_Synonym__c":"Climacterium praecox; Early menopause; Hypergonadotropic amenorrhea; Menopause praecox; Premature menopause; Premature ovarian failure; Primary ovarian insufficiency","HPO_Name__c":"Premature ovarian insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79237","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79237","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increase in the level of galactitol in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410062","HPO_Name__c":"Increased level of galactitol in urine","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79237","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79237","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79237","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Elevated concentration of galactose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012024","HPO_Name__c":"Hypergalactosemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79237","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Respiratory failure in the newborn.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012768","HPO_Synonym__c":"Asphyxia neonatorum","HPO_Name__c":"Neonatal asphyxia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79237","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100018","HPO_Synonym__c":"Yellowish cloudy center of lens","HPO_Name__c":"Nuclear cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79237","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79237","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001518","HPO_Synonym__c":"Birth weight less than 10th percentile; Low birth weight; Small for gestational age","HPO_Name__c":"Small for gestational age","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79237","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increase in the level of galactitol in the plasma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410061","HPO_Name__c":"Increased level of galactitol in plasma","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79237","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An increased concentration of cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003124","HPO_Synonym__c":"Elevated serum cholesterol; Elevated total cholesterol; Increased total cholesterol","HPO_Name__c":"Hypercholesterolemia","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Ophthalmology","Nephrology","Anterior segment of Eye","Pediatrics"],"Account":["Nephrology"]},"synonyms":["galactokinase deficiency"," galactokinase deficiency galactosemia"," galactokinase deficiency with cataracts"," galactosemia - galactokinase deficiency"," galactosemia ii"," galactosemia type 2"," galk (galactokinase) deficiency"," galk deficiency"," galk-d"]}