{ "CASES": [ { "PCFNo": "P202668154839801l2aov", "share_id": null, "case_id": "C0000001", "case_family_id": "F0000001", "case_relationship": "proband_individual", "case_parent_id": null, "case_spouse_id": null, "case_group": "Connective tissue disorder", "case_presence_or_absence_of_onset": "onset", "case_life_status": "alive", "case_birth": "2001/04", "case_death": null, "case_examination_day": "2025/10/12", "case_age": "24Y", "case_sex": "female", "case_note": "Family 1 proband. Family-based CaseSharing demo case.", "case_sympton": null, "medical_chief_complaint": "Progressive myopia and aortic root dilatation", "medical_case_solved": "SOLVED", "medical_age_onset": "12Y", "medical_current_history": "Tall stature became evident in late elementary school, and myopia progressed during adolescence. 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null, "medical_years_of_smoking": null, "medical_suspected_disease_id": [ { "OMIM": "OMIM:154700", "Orphanet": "Orphanet:284963|Orphanet:558" } ], "medical_suspected_disease_name": [ "Marfan syndrome" ], "medical_suspection_of_genetic_disease": "present", "medical_presence_of_familiality": "present", "medical_symptoms_related_within_family_lineage": null, "presence_of_multisystem_disorder": "unknown", "medical_disease_area": [], "medical_disease_area_details": null, "medical_confirmation_of_clinical_diagnosis": "unknown", "medical_clinical_diagnosis_id": [ { "OMIM": "OMIM:154700", "Orphanet": "Orphanet:284963|Orphanet:558" } ], "medical_clinical_diagnosis_name": [ "Marfan syndrome" ], "medical_clinical_diagnosis_date": [ "2025/10" ], "medical_final_diagnosis_id": [ { "OMIM": "OMIM:154700", "Orphanet": "Orphanet:284963|Orphanet:558" } ], "medical_final_diagnosis_name": [ "Marfan syndrome" ], "medical_final_diagnosis_date": [ "2025/11" ], 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"sample_type": [ "blood" ], "sample_type_other_detail": null, "sample_prescription": [ null ], "sample_route_of_administration": [ null ], "sample_yj_code": [ null ], "sample_test_date": "2025/10/12", "sample_wbc": null, "sample_rbc": null, "sample_hemoglobin": null, "sample_hematocrit": null, "sample_plt": null, "sample_tp": null, "sample_alb": null, "sample_t_bil": null, "sample_alp": null, "sample_ast_got": null, "sample_alt_gpt": null, "sample_ldh": null, "sample_ck": null, "sample_gamma_gtp": null, "sample_cre": null, "sample_ua": null, "sample_bun": null, "sample_amy": null, "sample_t_cho": null, "sample_tg": null, "sample_ldl_cho": null, "sample_hdl_cho": null, "sample_na": null, "sample_k": null, "sample_ip": null, "sample_cl": null, "sample_ca": null, "sample_crp": "0.03", "sample_glu": null, "sample_hba1c": null, "sample_test_item": [ "BNP" ], "sample_test_value": [ "18" ], "sample_test_unit": [ "pg/mL" ], "registration_disease_name": "Marfan syndrome", "registration_diagnosis_status": "diagnosed", "registration_age_group": "adult", "registration_genetic_status": "genetic", "registration_affection": "affected", "registration_note": "Family 1 proband. Family-based CaseSharing demo case.", "registration_consent_form_type": "not_applicable", "registration_consent_acquirer": "not_applicable", "registration_proxy_relation": null, "registration_proxy_relation_other": null, "registration_consent_form_version": null, "registration_ascent": "unknown", "registration_ascent_version": null, "registration_consent_acquisition_date": null, "registration_consent_withdrawal": "unknown", "registration_consent_withdrawer": "not_applicable", "registration_proxy_relation_withdrawer": null, "registration_proxy_relation_withdrawer_other_details": null, "registration_consent_withdrawal_version": null, "registration_ascent_withdrawer": "unknown", "registration_ascent_withdrawal_version": null, "registration_consent_withdrawal_date": null }, { "PCFNo": "P2026681548398027vkmq", "share_id": null, "case_id": "C0000002", "case_family_id": "F0000001", "case_relationship": "mother", "case_parent_id": null, "case_spouse_id": null, "case_group": "Connective tissue disorder", "case_presence_or_absence_of_onset": "onset", "case_life_status": "alive", "case_birth": "1977/02", "case_death": null, "case_examination_day": "2025/10/12", "case_age": "48Y", "case_sex": "female", "case_note": "Family 1 mother. Affected relative.", "case_sympton": null, "medical_chief_complaint": "Follow-up for aortic dilatation", "medical_case_solved": "SOLVED", "medical_age_onset": "16Y", "medical_current_history": "Myopia and tall stature were present from adolescence, and ascending aortic dilatation was noted in her thirties.", "medical_previous_history": null, "medical_prenatal_perinatal_history": null, "medical_early_developmental_and_schooling_history": null, "medical_process": "Cascade testing after the proband's diagnosis confirmed the same familial FBN1 variant.", "medical_medications": null, "medical_allergies": null, "medical_social_history": null, "medical_drinking": null, "medical_travel_history": null, "medical_vaccination_history": null, "medical_physical_findings": "Arachnodactyly, long limbs, and mild chest wall deformity.", "medical_examination_findings": "Laboratory tests: BNP 22 pg/mL. 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"medical_presence_of_familiality": "present", "medical_symptoms_related_within_family_lineage": null, "presence_of_multisystem_disorder": "unknown", "medical_disease_area": [], "medical_disease_area_details": null, "medical_confirmation_of_clinical_diagnosis": "unknown", "medical_clinical_diagnosis_id": [ { "OMIM": "OMIM:154700", "Orphanet": "Orphanet:284963|Orphanet:558" } ], "medical_clinical_diagnosis_name": [ "Marfan syndrome" ], "medical_clinical_diagnosis_date": [ "2012/05" ], "medical_final_diagnosis_id": [ { "OMIM": "OMIM:154700", "Orphanet": "Orphanet:284963|Orphanet:558" } ], "medical_final_diagnosis_name": [ "Marfan syndrome" ], "medical_final_diagnosis_date": [ "2012/06" ], "medical_presence_of_designated_intractable_disease_certification": "other", "medical_applied_intractable_disease_id": [ null ], "medical_applied_intractable_disease_name": [ null ], "medical_presence_of_pediatric_chronic_specific_disease_certification": "other", "medical_applied_pediatric_disease_id": [ 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"family_presence_of_cancer_history": [ "unknown" ], "family_cancer_history_cancer_type": [ [ null ] ], "family_cancer_history_cancer_type_other_details": [ [ null ] ], "family_cancer_history_age_of_onset": [ [ null ] ], "family_presence_of_lifestyle_disease_history": [ "unknown" ], "family_lifestyle_disease_history": [ [] ], "family_lifestyle_disease_history_other_details": [ null ], "family_consanguinity_of_parents": "unknown", "family_family_tree_pdf": null, "family_date_of_family_tree": null, "family_generation_number_of_proband": null, "sample_sampling_date": "2025/10/12", "sample_id": "S-P2026681548398027vkmq", "sample_presense_of_treatment_drug_at_sampling": "unknown", "sample_type": [ "blood" ], "sample_type_other_detail": null, "sample_prescription": [ null ], "sample_route_of_administration": [ null ], "sample_yj_code": [ null ], "sample_test_date": "2025/10/12", "sample_wbc": null, "sample_rbc": null, "sample_hemoglobin": null, "sample_hematocrit": null, "sample_plt": null, "sample_tp": null, "sample_alb": null, "sample_t_bil": null, "sample_alp": null, "sample_ast_got": null, "sample_alt_gpt": null, "sample_ldh": null, "sample_ck": null, "sample_gamma_gtp": null, "sample_cre": null, "sample_ua": null, "sample_bun": null, "sample_amy": null, "sample_t_cho": null, "sample_tg": null, "sample_ldl_cho": null, "sample_hdl_cho": null, "sample_na": null, "sample_k": null, "sample_ip": null, "sample_cl": null, "sample_ca": null, "sample_crp": null, "sample_glu": null, "sample_hba1c": null, "sample_test_item": [ "BNP" ], "sample_test_value": [ "22" ], "sample_test_unit": [ "pg/mL" ], "registration_disease_name": "Marfan syndrome", "registration_diagnosis_status": "diagnosed", "registration_age_group": "adult", "registration_genetic_status": "genetic", "registration_affection": "affected", "registration_note": "Family 1 mother. Affected relative.", "registration_consent_form_type": "not_applicable", "registration_consent_acquirer": "not_applicable", "registration_proxy_relation": null, "registration_proxy_relation_other": null, "registration_consent_form_version": null, "registration_ascent": "unknown", "registration_ascent_version": null, "registration_consent_acquisition_date": null, "registration_consent_withdrawal": "unknown", "registration_consent_withdrawer": "not_applicable", "registration_proxy_relation_withdrawer": null, "registration_proxy_relation_withdrawer_other_details": null, "registration_consent_withdrawal_version": null, "registration_ascent_withdrawer": "unknown", "registration_ascent_withdrawal_version": null, "registration_consent_withdrawal_date": null }, { "PCFNo": "P2026681548398038nrxp", "share_id": null, "case_id": "C0000003", "case_family_id": "F0000001", "case_relationship": "father", "case_parent_id": null, "case_spouse_id": null, "case_group": "Connective tissue disorder", "case_presence_or_absence_of_onset": "asymptomatic", "case_life_status": "alive", "case_birth": "1974/09", "case_death": null, "case_examination_day": "2025/10/12", "case_age": "51Y", "case_sex": "male", "case_note": "Family 1 father. Unaffected relative.", "case_sympton": null, "medical_chief_complaint": "Evaluation because of family history", "medical_case_solved": "COMPLETED", "medical_age_onset": null, "medical_current_history": "He had no abnormal body habitus or ocular symptoms and was evaluated because of the family history.", "medical_previous_history": null, "medical_prenatal_perinatal_history": null, "medical_early_developmental_and_schooling_history": null, "medical_process": "No significant abnormalities were detected on echocardiography or ophthalmologic examination.", "medical_medications": null, "medical_allergies": null, "medical_social_history": null, "medical_drinking": null, "medical_travel_history": null, "medical_vaccination_history": null, "medical_physical_findings": "No remarkable abnormalities.", "medical_examination_findings": "Laboratory tests: BNP 9 pg/mL. No abnormalities were seen on echocardiography.", "phenotype_hpo_id": [], "phenotype_hpo_label": [], "phenotype_medical_current_history": [], "phenotype_medical_previous_history": [], "phenotype_process": [], "phenotype_family_history": [], "phenotype_excluded": [], "phenotype_clinical_relevance": [], "phenotype_severity": [], "phenotype_age_onset": [], "phenotype_temporal_pattern": [], "phenotype_pace_progression": [], "phenotype_resolution": [], "phenotype_comments": [], "genotype_analysis": "", "genotype_gene": [ null ], "genotype_status": [ null ], "genotype_cdna_change": [ null ], "genotype_pathogenicity": [ null ], "genotype_allelic_state": [ null ], "genotype_reference": [ null ], "genotype_chr_position": [ null ], "genotype_transcript": [ null ], "genotype_protein_charge": [ null ], "genotype_annotation": [ null ], "genotype_inheritance": [ null ], "genotype_comments": [ null ], "family_history": "His wife and daughter are affected.", "family_mode_inheritance": "Autosomal dominant inheritance", "family_other_affected_relatives": "present", "family_consanguinity": "absent", "family_paternal_ethnicity": null, "family_maternal_ethnicity": null, "case_participation_of_relatives_in_this_study": "not_applicable", "case_sex_details": "", "case_age_on_examination": "51Y", "case_cause_of_death": null, "case_cause_of_death_details": null, "case_icd_11_code_of_cause_of_death": null, "case_last_date_of_confirmation_of_survival": "2025/10/12", "case_ethnicity_group": null, "case_free_comment_about_ethnicity_group": null, "case_country_of_birth": null, "case_state_of_birth": null, "case_city_of_birth": null, "case_free_comment_about_birth": null, "case_presence_of_prenatal_abnormalities": "unknown", "case_presence_of_abnormalities_at_birth": "unknown", "case_presence_of_medical_assistance_at_birth": "unknown", "case_gestational_age_at_birth": null, "case_age_of_mother_at_birth": null, "case_age_of_father_at_birth": null, "case_presence_of_assisted_reproductive_technology": "unknown", "case_type_of_assisted_reproductive_technology": [], "case_date_of_survey": null, "case_name_of_facility": null, "case_code_of_facility": null, "case_family_name_of_doctor_in_charge": null, "case_first_name_of_doctor_in_charge": null, "case_family_name_of_inputter": null, "case_first_name_of_inputter": null, "case_created_at": "2026/6/8 16:10:00", "case_updated_at": "2026/6/8 16:33:09", "medical_presence_of_previous_history": "absent", "medical_disease_of_previous_history_id": [ null ], "medical_disease_of_previous_history_name": [ null ], "medical_note_of_previous_history": null, "medical_presence_of_complications": "unknown", "medical_complication_history_id": [ null ], "medical_complication_history_name": [ null ], "medical_note_of_complications": null, "medical_complications_history": null, "medical_presence_of_pregnancy": "unknown", "medical_number_of_pregnancy": "", "medical_presence_of_childbirth": "unknown", "medical_number_of_childbirth": "", "medical_presence_of_miscarriage_or_stillbirth": "unknown", "medical_number_of_stillbirth": "", "medical_number_of_miscarriage": "", "medical_number_of_artificial_abortion": "", "medical_presence_of_employment": "unknown", "medical_occupational_classification": [], "medical_occupational_classification_other_details": null, "medical_body_height_at_birth": null, "medical_body_weight_at_birth": null, "medical_head_circumference_at_birth": null, "medical_body_height_at_registration": null, "medical_body_weight_at_registration": null, "medical_head_circumference_at_registration": null, "medical_age_at_measurement": null, "medical_body_info_date_at_examination": [ "2025/10/12" ], "medical_body_height_at_examination": [ "171" ], "medical_body_weight_at_examination": [ "69" ], "medical_head_circumference_at_examination": [ "56" ], "medical_presence_of_drinking_habits": "unknown", "medical_presence_of_smoking_habits": "unknown", "medical_number_of_smoking": null, "medical_years_of_smoking": null, "medical_suspected_disease_id": [ null ], "medical_suspected_disease_name": [ null ], "medical_suspection_of_genetic_disease": "unknown", "medical_presence_of_familiality": "present", "medical_symptoms_related_within_family_lineage": null, "presence_of_multisystem_disorder": "unknown", "medical_disease_area": [], "medical_disease_area_details": null, "medical_confirmation_of_clinical_diagnosis": "unknown", "medical_clinical_diagnosis_id": [ null ], "medical_clinical_diagnosis_name": [ null ], "medical_clinical_diagnosis_date": [ null ], "medical_final_diagnosis_id": [ null ], "medical_final_diagnosis_name": [ null ], "medical_final_diagnosis_date": [ null ], "medical_presence_of_designated_intractable_disease_certification": "other", "medical_applied_intractable_disease_id": [ null ], "medical_applied_intractable_disease_name": [ null ], "medical_presence_of_pediatric_chronic_specific_disease_certification": "other", "medical_applied_pediatric_disease_id": [ null ], "medical_applied_pediatric_disease_name": [ null ], "genotype_presence_of_genetic_testing": "absent", "genotype_presence_of_abnormalities_in_genetic_testing": "absent", "genotype_date_of_testing": [ null ], "genotype_testing_company_name": [ "" ], "genotype_testing_company_name_other_details": [ null ], "genotype_type_of_testing": [ null ], "genotype_testing_other_details": [ null ], "genotype_result_of_testing": [ "unknown" ], "genotype_ncbi_gene_id": [ null ], "genotype_ensembl_id": [ null ], "family_presence_of_onset_in_family": "present", "family_presence_of_miscarriage_or_stillbirth_of_mother": "absent", "family_number_of_stillbirth_of_mother": null, "family_number_of_miscarriage_of_mother": null, "family_number_of_artificial_abortion_of_mother": null, "family_relative_name": [ null ], "family_generation_number_of_relative": [ null ], "family_presence_of_genetic_cancer_testing": [ "unknown" ], "family_genetic_cancer_testing_result_file": [ null ], "family_presence_of_cancer_history": [ "unknown" ], "family_cancer_history_cancer_type": [ [ null ] ], "family_cancer_history_cancer_type_other_details": [ [ null ] ], "family_cancer_history_age_of_onset": [ [ null ] ], "family_presence_of_lifestyle_disease_history": [ "unknown" ], "family_lifestyle_disease_history": [ [] ], "family_lifestyle_disease_history_other_details": [ null ], "family_consanguinity_of_parents": "unknown", "family_family_tree_pdf": null, "family_date_of_family_tree": null, "family_generation_number_of_proband": null, "sample_sampling_date": "2025/10/12", "sample_id": "S-P2026681548398038nrxp", "sample_presense_of_treatment_drug_at_sampling": "unknown", "sample_type": [ "blood" ], "sample_type_other_detail": null, "sample_prescription": [ null ], "sample_route_of_administration": [ null ], "sample_yj_code": [ null ], "sample_test_date": "2025/10/12", "sample_wbc": null, "sample_rbc": null, "sample_hemoglobin": null, "sample_hematocrit": null, "sample_plt": null, "sample_tp": null, "sample_alb": null, "sample_t_bil": null, "sample_alp": null, "sample_ast_got": null, "sample_alt_gpt": null, "sample_ldh": null, "sample_ck": null, "sample_gamma_gtp": null, "sample_cre": null, "sample_ua": null, "sample_bun": null, "sample_amy": null, "sample_t_cho": null, "sample_tg": null, "sample_ldl_cho": null, "sample_hdl_cho": null, "sample_na": null, "sample_k": null, "sample_ip": null, "sample_cl": null, "sample_ca": null, "sample_crp": null, "sample_glu": null, "sample_hba1c": null, "sample_test_item": [ "BNP" ], "sample_test_value": [ "9" ], "sample_test_unit": [ "pg/mL" ], "registration_disease_name": "Family history evaluation", "registration_diagnosis_status": "non_affected", "registration_age_group": "adult", "registration_genetic_status": "not_applicable", "registration_affection": "not_affected", "registration_note": "Family 1 father. Unaffected relative.", "registration_consent_form_type": "not_applicable", "registration_consent_acquirer": "not_applicable", "registration_proxy_relation": null, "registration_proxy_relation_other": null, "registration_consent_form_version": null, "registration_ascent": "unknown", "registration_ascent_version": null, "registration_consent_acquisition_date": null, "registration_consent_withdrawal": "unknown", "registration_consent_withdrawer": "not_applicable", "registration_proxy_relation_withdrawer": null, "registration_proxy_relation_withdrawer_other_details": null, "registration_consent_withdrawal_version": null, "registration_ascent_withdrawer": "unknown", "registration_ascent_withdrawal_version": null, "registration_consent_withdrawal_date": null }, { "PCFNo": "P2026681548398045cjde", "share_id": null, "case_id": "C0000004", "case_family_id": "F0000001", "case_relationship": "sibling", "case_parent_id": null, "case_spouse_id": null, "case_group": "Connective tissue disorder", "case_presence_or_absence_of_onset": "onset", "case_life_status": "alive", "case_birth": "2004/08", "case_death": null, "case_examination_day": "2025/10/12", "case_age": "21Y", "case_sex": "male", "case_note": "Family 1 younger brother. Affected sibling.", "case_sympton": null, "medical_chief_complaint": "Tall stature, myopia, and chest wall deformity", "medical_case_solved": "SOLVED", "medical_age_onset": "14Y", "medical_current_history": "Tall stature became evident during junior high school, and myopia progressed from around age 16. A school health examination also identified chest wall deformity.", "medical_previous_history": null, "medical_prenatal_perinatal_history": null, "medical_early_developmental_and_schooling_history": null, "medical_process": "Familial testing after the proband's diagnosis confirmed the same FBN1 pathogenic variant, leading to a diagnosis of Marfan syndrome.", "medical_medications": null, "medical_allergies": null, "medical_social_history": null, "medical_drinking": null, "medical_travel_history": null, "medical_vaccination_history": null, "medical_physical_findings": "Tall stature, arachnodactyly, and mild pectus excavatum.", "medical_examination_findings": "Laboratory tests: BNP 14 pg/mL. Ophthalmologic examination showed high myopia, and echocardiography showed a sinus of Valsalva diameter of 38 mm.", "phenotype_hpo_id": [ "HP:0000545", "HP:0001166", "HP:0002616" ], "phenotype_hpo_label": [ { "name_en": "Myopia", "name_ja": "Myopia" }, { "name_en": "Arachnodactyly", "name_ja": "Arachnodactyly" }, { "name_en": "Aortic root aneurysm", "name_ja": "Aortic root aneurysm" } ], "phenotype_medical_current_history": [ "yes", "yes", "yes" ], "phenotype_medical_previous_history": [ "no", "no", "no" ], "phenotype_process": [ "yes", "yes", "yes" ], "phenotype_family_history": [ "yes", "yes", "yes" ], "phenotype_excluded": [ "no", "no", "no" ], "phenotype_clinical_relevance": [ "distinctive", "distinctive", "distinctive" ], "phenotype_severity": [ "moderate", "moderate", "moderate" ], "phenotype_age_onset": [ "16Y", "14Y", "21Y" ], "phenotype_temporal_pattern": [ "chronic", "chronic", "chronic" ], "phenotype_pace_progression": [ "Slowly progressive", "Nonprogressive", "Slowly progressive" ], "phenotype_resolution": [ "", "", "" ], "phenotype_comments": [ "", "", "" ], "genotype_analysis": "Familial testing confirmed the same pathogenic FBN1 variant.", "genotype_gene": [ "FBN1" ], "genotype_status": [ "Pathogenic variant detected" ], "genotype_cdna_change": [ "c.7583G>A" ], "genotype_pathogenicity": [ "Pathogenic" ], "genotype_allelic_state": [ "heterozygous" ], "genotype_reference": [], "genotype_chr_position": [], "genotype_transcript": [ "NM_000138.5" ], "genotype_protein_charge": [ "p.Cys2528Tyr" ], "genotype_annotation": [], "genotype_inheritance": [ "autosomal dominant - Inherited mutation" ], "genotype_comments": [], "family_history": "Shared body habitus abnormalities are present in the mother, older sister, and patient.", "family_mode_inheritance": "Autosomal dominant inheritance", "family_other_affected_relatives": "present", "family_consanguinity": "absent", "family_paternal_ethnicity": null, "family_maternal_ethnicity": null, "case_participation_of_relatives_in_this_study": "not_applicable", "case_sex_details": "", "case_age_on_examination": "21Y", "case_cause_of_death": null, "case_cause_of_death_details": null, "case_icd_11_code_of_cause_of_death": null, "case_last_date_of_confirmation_of_survival": "2025/10/12", "case_ethnicity_group": null, "case_free_comment_about_ethnicity_group": null, "case_country_of_birth": null, "case_state_of_birth": null, "case_city_of_birth": null, "case_free_comment_about_birth": null, "case_presence_of_prenatal_abnormalities": "unknown", "case_presence_of_abnormalities_at_birth": "unknown", "case_presence_of_medical_assistance_at_birth": "unknown", "case_gestational_age_at_birth": null, "case_age_of_mother_at_birth": null, "case_age_of_father_at_birth": null, "case_presence_of_assisted_reproductive_technology": "unknown", "case_type_of_assisted_reproductive_technology": [], "case_date_of_survey": null, "case_name_of_facility": null, "case_code_of_facility": null, "case_family_name_of_doctor_in_charge": null, "case_first_name_of_doctor_in_charge": null, "case_family_name_of_inputter": null, "case_first_name_of_inputter": null, "case_created_at": "2026/6/8 16:10:00", "case_updated_at": "2026/6/8 16:33:24", "medical_presence_of_previous_history": "absent", "medical_disease_of_previous_history_id": [ null ], "medical_disease_of_previous_history_name": [ null ], "medical_note_of_previous_history": null, "medical_presence_of_complications": "unknown", "medical_complication_history_id": [ null ], "medical_complication_history_name": [ null ], "medical_note_of_complications": null, "medical_complications_history": null, "medical_presence_of_pregnancy": "unknown", "medical_number_of_pregnancy": "", "medical_presence_of_childbirth": "unknown", "medical_number_of_childbirth": "", "medical_presence_of_miscarriage_or_stillbirth": "unknown", "medical_number_of_stillbirth": "", "medical_number_of_miscarriage": "", "medical_number_of_artificial_abortion": "", "medical_presence_of_employment": "unknown", "medical_occupational_classification": [], "medical_occupational_classification_other_details": null, "medical_body_height_at_birth": null, "medical_body_weight_at_birth": null, "medical_head_circumference_at_birth": null, "medical_body_height_at_registration": null, "medical_body_weight_at_registration": null, "medical_head_circumference_at_registration": null, "medical_age_at_measurement": null, "medical_body_info_date_at_examination": [ "2025/10/12" ], "medical_body_height_at_examination": [ "186" ], "medical_body_weight_at_examination": [ "68" ], "medical_head_circumference_at_examination": [ "56" ], "medical_presence_of_drinking_habits": "unknown", "medical_presence_of_smoking_habits": "unknown", "medical_number_of_smoking": null, "medical_years_of_smoking": null, "medical_suspected_disease_id": [ { "OMIM": "OMIM:154700", "Orphanet": "Orphanet:284963|Orphanet:558" } ], "medical_suspected_disease_name": [ "Marfan syndrome" ], "medical_suspection_of_genetic_disease": "present", "medical_presence_of_familiality": "present", "medical_symptoms_related_within_family_lineage": null, "presence_of_multisystem_disorder": "unknown", "medical_disease_area": [], "medical_disease_area_details": null, "medical_confirmation_of_clinical_diagnosis": "unknown", "medical_clinical_diagnosis_id": [ { "OMIM": "OMIM:154700", "Orphanet": "Orphanet:284963|Orphanet:558" } ], "medical_clinical_diagnosis_name": [ "Marfan syndrome" ], "medical_clinical_diagnosis_date": [ "2025/10" ], "medical_final_diagnosis_id": [ { "OMIM": "OMIM:154700", "Orphanet": "Orphanet:284963|Orphanet:558" } ], "medical_final_diagnosis_name": [ "Marfan syndrome" ], "medical_final_diagnosis_date": [ "2025/11" ], "medical_presence_of_designated_intractable_disease_certification": "other", "medical_applied_intractable_disease_id": [ null ], "medical_applied_intractable_disease_name": [ null ], "medical_presence_of_pediatric_chronic_specific_disease_certification": "other", "medical_applied_pediatric_disease_id": [ null ], "medical_applied_pediatric_disease_name": [ null ], "genotype_presence_of_genetic_testing": "present", "genotype_presence_of_abnormalities_in_genetic_testing": "present", "genotype_date_of_testing": [ "2025/10/12" ], "genotype_testing_company_name": [ "" ], "genotype_testing_company_name_other_details": [], "genotype_type_of_testing": [], "genotype_testing_other_details": [], "genotype_result_of_testing": [ "unknown" ], "genotype_ncbi_gene_id": [ "2200" ], "genotype_ensembl_id": [ "ENSG00000166147" ], "family_presence_of_onset_in_family": "present", "family_presence_of_miscarriage_or_stillbirth_of_mother": "absent", "family_number_of_stillbirth_of_mother": null, "family_number_of_miscarriage_of_mother": null, "family_number_of_artificial_abortion_of_mother": null, "family_relative_name": [ null ], "family_generation_number_of_relative": [ null ], "family_presence_of_genetic_cancer_testing": [ "unknown" ], "family_genetic_cancer_testing_result_file": [ null ], "family_presence_of_cancer_history": [ "unknown" ], "family_cancer_history_cancer_type": [ [ null ] ], "family_cancer_history_cancer_type_other_details": [ [ null ] ], "family_cancer_history_age_of_onset": [ [ null ] ], "family_presence_of_lifestyle_disease_history": [ "unknown" ], "family_lifestyle_disease_history": [ [] ], "family_lifestyle_disease_history_other_details": [ null ], "family_consanguinity_of_parents": "unknown", "family_family_tree_pdf": null, "family_date_of_family_tree": null, "family_generation_number_of_proband": null, "sample_sampling_date": "2025/10/12", "sample_id": "S-P2026681548398045cjde", "sample_presense_of_treatment_drug_at_sampling": "unknown", "sample_type": [ "blood" ], "sample_type_other_detail": null, "sample_prescription": [ null ], "sample_route_of_administration": [ null ], "sample_yj_code": [ null ], "sample_test_date": "2025/10/12", "sample_wbc": null, "sample_rbc": null, "sample_hemoglobin": null, "sample_hematocrit": null, "sample_plt": null, "sample_tp": null, "sample_alb": null, "sample_t_bil": null, "sample_alp": null, "sample_ast_got": null, "sample_alt_gpt": null, "sample_ldh": null, "sample_ck": null, "sample_gamma_gtp": null, "sample_cre": null, "sample_ua": null, "sample_bun": null, "sample_amy": null, "sample_t_cho": null, "sample_tg": null, "sample_ldl_cho": null, "sample_hdl_cho": null, "sample_na": null, "sample_k": null, "sample_ip": null, "sample_cl": null, "sample_ca": null, "sample_crp": null, "sample_glu": null, "sample_hba1c": null, "sample_test_item": [ "BNP" ], "sample_test_value": [ "14" ], "sample_test_unit": [ "pg/mL" ], "registration_disease_name": "Marfan syndrome", "registration_diagnosis_status": "diagnosed", "registration_age_group": "adult", "registration_genetic_status": "genetic", "registration_affection": "affected", "registration_note": "Family 1 younger brother. Affected sibling.", "registration_consent_form_type": "not_applicable", "registration_consent_acquirer": "not_applicable", "registration_proxy_relation": null, "registration_proxy_relation_other": null, "registration_consent_form_version": null, "registration_ascent": "unknown", "registration_ascent_version": null, "registration_consent_acquisition_date": null, "registration_consent_withdrawal": "unknown", "registration_consent_withdrawer": "not_applicable", "registration_proxy_relation_withdrawer": null, "registration_proxy_relation_withdrawer_other_details": null, "registration_consent_withdrawal_version": null, "registration_ascent_withdrawer": "unknown", "registration_ascent_withdrawal_version": null, "registration_consent_withdrawal_date": null }, { "PCFNo": "P2026681548398051ubhf", "share_id": null, "case_id": "C0000005", "case_family_id": "F0000002", "case_relationship": "proband_individual", "case_parent_id": null, "case_spouse_id": null, "case_group": "Undiagnosed metabolic and neurologic disorder", "case_presence_or_absence_of_onset": "onset", "case_life_status": "alive", "case_birth": "2012/09", "case_death": null, "case_examination_day": "2025/11/05", "case_age": "13Y", "case_sex": "female", "case_note": "Undiagnosed sharing-oriented case. Wilson disease-like phenotype with ATP7B as a candidate gene.", "case_sympton": null, "medical_chief_complaint": "Tremor, dysarthria, and liver dysfunction", "medical_case_solved": "UNSOLVED", "medical_age_onset": "10Y", "medical_current_history": "Hand tremor and difficulty speaking began around age 10, and liver enzyme elevation has recurred in recent years.", "medical_previous_history": null, "medical_prenatal_perinatal_history": null, "medical_early_developmental_and_schooling_history": null, "medical_process": "This remains an undiagnosed Wilson disease-like case. ATP7B is a candidate gene, and additional validation plus comparison with external cases are needed.", "medical_medications": null, "medical_allergies": null, "medical_social_history": null, "medical_drinking": null, "medical_travel_history": null, "medical_vaccination_history": null, "medical_physical_findings": "Hand tremor and mild dysarthria.", "medical_examination_findings": "Laboratory tests: AST 78 U/L, ALT 96 U/L, ceruloplasmin 17 mg/dL. Twenty-four-hour urinary copper was borderline.", "phenotype_hpo_id": [ "HP:0001337", "HP:0001260", "HP:0002910" ], "phenotype_hpo_label": [ { "name_en": "Tremor", "name_ja": "Tremor" }, { "name_en": "Dysarthria", "name_ja": "Dysarthria" }, { "name_en": "Elevated hepatic transaminase", "name_ja": "Elevated hepatic transaminase" } ], "phenotype_medical_current_history": [ "yes", "yes", "yes" ], "phenotype_medical_previous_history": [ "no", "no", "no" ], "phenotype_process": [ "yes", "yes", "yes" ], "phenotype_family_history": [ "yes", "yes", "yes" ], "phenotype_excluded": [ "no", "no", "no" ], "phenotype_clinical_relevance": [ "distinctive", "distinctive", "distinctive" ], "phenotype_severity": [ "moderate", "mild", "moderate" ], "phenotype_age_onset": [ "10Y", "11Y", "10Y" ], "phenotype_temporal_pattern": [ "chronic", "chronic", "chronic" ], "phenotype_pace_progression": [ "Slowly progressive", "Slowly progressive", "Slowly progressive" ], "phenotype_resolution": [ "", "", "" ], 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