{"Name":"Combined immunodeficiency due to GINS1 deficiency","DiseaseID__c":"GARD:0017941","id":17941,"encodedName":"combined-immunodeficiency-due-to-gins1-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Combined immunodeficiency due to GINS1 deficiency","Xref_IDs__c":"1179286007; C5568132; DOID:0111993; MEDGEN:1799555; MONDO:0044725; OMIM:617827; ORPHA:505227","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:505227","Disease_Description__c":"A rare syndrome with combined immunodeficiency characterized by intrauterine and postnatal growth retardation, chronic neutropenia, and natural killer (NK) cell deficiency due a defect in DNA replication leading to blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells. Other clinical features include recurrent viral and bacterial infections and eczema, as well as mild facial dysmorphism.","GARD_Name__c":"Combined immunodeficiency due to GINS1 deficiency","GARD_Synonym__c":"cid due to gins1 deficiency; combined immunodeficiency due to gins complex subunit 1 deficiency; combined immunodeficiency due to gins1 (gins complex subunit 1) deficiency; combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia; combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia; combined immunodeficiency with intrauterine growth retardation, nk (natural killer) cell deficiency, neutropenia; immunodeficiency 55","Curated_Disease_Description_Source__c":"ORPHA:505227","Curated_Disease_Description__c":"A rare syndrome with combined immunodeficiency characterized by intrauterine and postnatal growth retardation, chronic neutropenia, and natural killer (NK) cell deficiency due a defect in DNA replication leading to blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells. Other clinical features include recurrent viral and bacterial infections and eczema, as well as mild facial dysmorphism.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:505227","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0044725","ORPHANET_ID__c":"ORPHA:505227","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia combinada grave por deficiencia de gins1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"inmunodeficiencia combinada grave por deficiencia de gins1","Spanish_GARD_Synonym__c":"idc por deficiencia de gins1; inmunodeficiencia combinada con retraso del crecimiento intrauterino-deficiencia de células natural killer-neutropenia; inmunodeficiencia combinada con retraso del crecimiento intrauterino-deficiencia de células nk-neutropenia","Category_Linearization__c":"ORPHA:98004","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":"A rare syndrome with combined immunodeficiency characterized by intrauterine and postnatal growth retardation, chronic neutropenia, and natural killer (NK) cell deficiency due a defect in DNA replication leading to blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells. Other clinical features include recurrent viral and bacterial infections and eczema, as well as mild facial dysmorphism.","Curated_Disease_Description_Source__c":"ORPHA:505227","GARD_Synonym__c":"cid due to gins1 deficiency; combined immunodeficiency due to gins complex subunit 1 deficiency; combined immunodeficiency due to gins1 (gins complex subunit 1) deficiency; combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia; combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia; combined immunodeficiency with intrauterine growth retardation, nk (natural killer) cell deficiency, neutropenia; immunodeficiency 55","Name":"Combined immunodeficiency due to GINS1 deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.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":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:505227"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:505227"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/617827","Source__c":"C5568132; MONDO:0044725; ORPHA:505227","Xref__c":"OMIM:617827"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111993","Source__c":"MONDO:0044725","Xref__c":"DOID:0111993"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5568132","Source__c":"C5568132","Xref__c":"C5568132"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1799555","Source__c":"C5568132","Xref__c":"MEDGEN:1799555"},{"URL__c":"https://www.orpha.net/en/disease/detail/505227","Source__c":"C5568132; MONDO:0044725; ORPHA:505227","Xref__c":"ORPHA:505227"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1179286007","Source__c":"C5568132","Xref__c":"1179286007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0044725","Source__c":"GARD:0017941","Xref__c":"MONDO:0044725"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GINS1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:617827","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced number of lymphocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001888","HPO_Synonym__c":"Absolute lymphocyte count decrease; Decreased blood lymphocyte number; Low lymphocyte number; Lymphocytopenia; Lymphopenia","HPO_Name__c":"Decreased total lymphocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617827","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617827","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000964","HPO_Synonym__c":"Eczema","HPO_Name__c":"Eczematoid dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617827","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001875","HPO_Synonym__c":"Low blood neutrophil count; Low neutrophil count; Neutropenia; Peripheral neutropenia","HPO_Name__c":"Decreased total neutrophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617827","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to infections as manifested by repeated bouts of infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002719","HPO_Synonym__c":"Frequent infections; Frequent, severe infections; Increased frequency of infection; infections, recurrent; Predisposition to infections; Recurrent infections; Susceptibility to infection","HPO_Name__c":"Recurrent infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617827","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:617827","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617827","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Slow or limited growth after birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008897","HPO_Synonym__c":"Growth delay as children; Growth retardation as children; Postnatal growth deceleration; Postnatal growth deficiency; Postnatal growth failure","HPO_Name__c":"Postnatal growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617827","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617827","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Enlargement (swelling) of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002716","HPO_Synonym__c":"Lymph node hyperplasia; Swollen lymph nodes","HPO_Name__c":"Lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617827","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Skin characterized by the lack of natural or normal moisture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000958","HPO_Synonym__c":"Dry skin; Xerosis","HPO_Name__c":"Dry skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617827","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002863","HPO_Synonym__c":"Myelodysplastic syndrome","HPO_Name__c":"Myelodysplasia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617827","Feature__r":{"HPO_Description__c":"Infections of the skin that happen multiple times.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001581","HPO_Synonym__c":"Recurrent cutaneous infections; Recurrent skin infections; Skin infections, recurrent","HPO_Name__c":"Recurrent skin infections","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617827","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617827","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008064","HPO_Synonym__c":"Ichthyosiform abnormality of the skin; Ichthyotic skin","HPO_Name__c":"Ichthyosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617827","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of detectable circulating NK cells, commonly characterized as CD3-CD19- and CD16+ or CD56+ lymphocytes, in the blood. Usually, less than 20 cells per microlitre is considered to be an absence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040219","HPO_Synonym__c":"Absent NK cells","HPO_Name__c":"Absent natural killer cells","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["cid due to gins1 deficiency"," combined immunodeficiency due to gins complex subunit 1 deficiency"," combined immunodeficiency due to gins1 (gins complex subunit 1) deficiency"," combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia"," combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia"," combined immunodeficiency with intrauterine growth retardation, nk (natural killer) cell deficiency, neutropenia"," immunodeficiency 55"]}