{"Name":"Microcephaly-congenital cataract-psoriasiform dermatitis syndrome","DiseaseID__c":"GARD:0017886","id":17886,"encodedName":"microcephaly-congenital-cataract-psoriasiform-dermatitis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Microcephaly-congenital cataract-psoriasiform dermatitis syndrome","Xref_IDs__c":"C5567510; MEDGEN:1798933; MONDO:0014793; OMIM:616834; ORPHA:488168","USA_Estimate__c":"1,000","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":"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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:488168","Disease_Description__c":"A rare sterol biosynthesis disorder characterized by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity, and immune dysregulation. Behavioral disorder, joint contractures, and arthralgia have also been described.","GARD_Name__c":"Microcephaly-congenital cataract-psoriasiform dermatitis syndrome","GARD_Synonym__c":"mccpd; microcephaly, congenital cataract, and psoriasiform dermatitis; microcephaly, congenital cataract, psoriasiform dermatitis syndrome; sc4mol deficiency; smo (sterol-c4-methyl oxidase) deficiency; smo deficiency; sterol-c4-methyl oxidase deficiency","Curated_Disease_Description_Source__c":"ORPHA:488168","Curated_Disease_Description__c":"A rare sterol biosynthesis disorder characterized by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity, and immune dysregulation. Behavioral disorder, joint contractures, and arthralgia have also been described.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:488168","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014793","ORPHANET_ID__c":"ORPHA:488168","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de microcefalia-catarata congénita-dermatitis psoriasiforme","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de microcefalia-catarata congénita-dermatitis psoriasiforme","Spanish_GARD_Synonym__c":"deficiencia de esterol-c4-metil oxidasa; deficiencia de smo","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":"A rare sterol biosynthesis disorder characterized by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity, and immune dysregulation. Behavioral disorder, joint contractures, and arthralgia have also been described.","Curated_Disease_Description_Source__c":"ORPHA:488168","GARD_Synonym__c":"mccpd; microcephaly, congenital cataract, and psoriasiform dermatitis; microcephaly, congenital cataract, psoriasiform dermatitis syndrome; sc4mol deficiency; smo (sterol-c4-methyl oxidase) deficiency; smo deficiency; sterol-c4-methyl oxidase deficiency","Name":"Microcephaly-congenital cataract-psoriasiform dermatitis syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"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":"Infancy","Provided_By__c":"ORPHA:488168"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5567510","Source__c":"C5567510","Xref__c":"C5567510"},{"URL__c":"https://www.orpha.net/en/disease/detail/488168","Source__c":"C5567510; MONDO:0014793; ORPHA:488168","Xref__c":"ORPHA:488168"},{"URL__c":"https://www.omim.org/entry/616834","Source__c":"C5567510; MONDO:0014793; ORPHA:488168","Xref__c":"OMIM:616834"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1798933","Source__c":"C5567510","Xref__c":"MEDGEN:1798933"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1172683008","Source__c":"C5567510","Xref__c":"1172683008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014793","Source__c":"GARD:0017886","Xref__c":"MONDO:0014793"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MSMO1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616834","Feature__r":{"HPO_Description__c":"Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000823","HPO_Synonym__c":"Delayed pubertal development; Delayed pubertal growth; Delayed puberty; Pubertal delay","HPO_Name__c":"Delayed puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616834","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An decreased concentration of low-density lipoprotein cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003563","HPO_Synonym__c":"Decreased circulating low-density lipoprotein levels; Decreased LDLc concentration; Hypobetalipoproteinemia","HPO_Name__c":"Decreased LDL cholesterol concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616834","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616834","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616834","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:616834","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of dimethylsterols in the blood circulation is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000754","HPO_Name__c":"Elevated circulating dimethyl sterol concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616834","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616834","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002750","HPO_Synonym__c":"Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation","HPO_Name__c":"Delayed skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616834","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration of monomethylsterols (such as 4alpha-monomethylsterol) in the blood circulation above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000753","HPO_Name__c":"Elevated circulating monomethyl sterol concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616834","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003765","HPO_Synonym__c":"Psoriasis","HPO_Name__c":"Psoriasiform dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616834","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000498","HPO_Synonym__c":"Cellulitis of eyelids; Inflammation of eyelids","HPO_Name__c":"Blepharitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616834","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An decreased concentration of cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003146","HPO_Synonym__c":"Decreased circulating cholesterol level","HPO_Name__c":"Hypocholesterolemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616834","Feature__r":{"HPO_Description__c":"The concentration of a methysterol in the blood circulation is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6001113","HPO_Name__c":"Elevated circulating methysterol concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616834","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An decreased concentration of high-density lipoprotein cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003233","HPO_Synonym__c":"Decreased circulating high-density lipoprotein cholesterol; Decreased circulating high-density lipoprotein levels; Decreased HDL cholesterol; Hypoalphalipoproteinemia; Low HDL-cholesterol","HPO_Name__c":"Decreased HDL cholesterol concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616834","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000519","HPO_Synonym__c":"Bilateral congenital cataracts; Cataract, congenital; Clouding of the lens of the eye at birth; Congenital cataract; Congenital cataracts; Congenital cataracts, bilateral","HPO_Name__c":"Developmental cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616834","HPO_Frequency__c":"Very frequent (80-99%)","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:616834","HPO_Frequency__c":"Very frequent (80-99%)","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:616834","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Dermatology","Inborn Errors of Metabolism","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Dermatology","Anterior segment of Eye","Pediatrics"],"Account":["Dermatology"]},"synonyms":["mccpd"," microcephaly, congenital cataract, and psoriasiform dermatitis"," microcephaly, congenital cataract, psoriasiform dermatitis syndrome"," sc4mol deficiency"," smo (sterol-c4-methyl oxidase) deficiency"," smo deficiency"," sterol-c4-methyl oxidase deficiency"]}