{"orpha":168569,"name":"H syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare cutaneous disease and a systemic inherited histiocytosis mainly characterized by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168569/","orphanet_url":"https://www.orpha.net/en/disease/detail/168569","names":{"fr":{"name":"Syndrome H","definition":"Maladie rare de la peau et histiocytose systémique héréditaire principalement caractérisée par une hyperpigmentation, une hypertrichose, une hépatosplénomégalie, des anomalies cardiaques, une perte auditive, un hypogonadisme, une petite taille et, parfois, une hyperglycémie/diabète sucré. En raison du chevauchement des signes cliniques, on considère actuellement que l'hypertrichose pigmentée avec le syndrome du diabète sucré insulinodépendant (DIDP), l'histiocytose de Faisalabad (FHC) et l'histiocytose sinusale familiale avec lymphadénopathie massive (FSHML) font partie du syndrome. Certains cas de dysostéosclérose peuvent également être représentatifs de celui-ci."},"de":{"name":"H-Syndrom","synonyms":["Histiozytose-Lymphadenopathie-Plus-Syndrom","PHID-Syndrom"],"definition":"Eine seltene kutane Erkrankung und eine systemische vererbte Histiozytose, die hauptsächlich durch Hyperpigmentierung, Hypertrichose, Hepatosplenomegalie, Herzanomalien, Hörverlust, Hypogonadismus, geringe Körpergröße und gelegentlich Hyperglykämie/Diabetes mellitus gekennzeichnet ist. Aufgrund der sich überschneidenden klinischen Merkmale werden heute auch die pigmentierte Hypertrichose mit insulinabhängigem Diabetes mellitus-Syndrom (PHID), die Faisalabad-Histiozytose (FHC) und die familiäre Sinus-Histiozytose mit massiver Lymphadenopathie (FSHML) dazu gezählt. Auch einige Fälle von Dysosteosklerose können das Syndrom repräsentieren."},"es":{"name":"Síndrome H","definition":"Es una enfermedad poco frecuente de la piel y una histiocitosis hereditaria sistémica caracterizada principalmente por hiperpigmentación, hipertricosis, hepatoesplenomegalia, anomalías cardíacas, pérdida auditiva, hipogonadismo, talla baja y, ocasionalmente, hiperglucemia o diabetes mellitus. Debido a la superposición de características clínicas, en la actualidad se considera que incluye la hipertricosis pigmentada con síndrome de diabetes mellitus insulino-dependiente (PHID), la histiocitosis de Faisalabad (FHC) y la histiocitosis sinusal familiar con linfadenopatía masiva (HSLM). Algunos casos de disosteosclerosis también podrían representar el síndrome."},"it":{"name":"Sindrome H","definition":"È una malattia cutanea rara e un'istiocitosi sistemica ereditaria, caratterizzata da iperpigmentazione, ipertricosi, epatosplenomegalia, cardiopatie, sordità, ipogonadismo, scarso peso e, occasionalmente, iperglicemia/diabete mellito. Dato che i segni clinici sono sovrapponibili, la sindrome H include anche la sindrome da ipertricosi pigmentata associata al diabete mellito insulino-dipendente (PHID), l'istiocitosi di Faisalabad (FHC) e l'istiocitosi sinusale familiare associata a linfoadenopatia massiva (FSHML). Anche alcuni casi di disosteosclerosi rientrano in questa sindrome."},"nl":{"name":"H-syndroom","definition":"Een zeldzame huidziekte en een systemische, erfelijke histiocytose, voornamelijk gekarakteriseerd door hyperpigmentatie, hypertrichose, hepatosplenomegalie, hartanomalieën, gehoorverlies, hypogonadisme, kleine lichaamslengte, en occasioneel hyperglykemie/diabetes mellitus. Vanwege de overlappende klinische kenmerken worden gepigmenteerde hypertrichose met insuline-afhankelijke diabetes mellitus-syndroom (PHID), Faisalabad histiocytose (FHC) en familiale sinus histiocytose met massale lymfadenopathie (FSHML) ook inbegrepen. Sommige gevallen van dysosteosclerose kunnen ook het syndroom vertegenwoordigen."},"pt":{"name":"Síndrome H"},"pl":{"name":"Zespół H"},"cs":{"name":"H syndrom"},"uk":{"name":"H-синдром","definition":"A rare cutaneous disease and a systemic inherited histiocytosis mainly characterized by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome."},"zh":{"name":"组织细胞增生-淋巴结肿大综合征","definition":"H综合征是一种罕见的皮肤病和遗传性系统性组织细胞增多症，其主要临床表现为皮肤色素沉着、多毛症、肝脾肿大、心脏异常、听力丧失、性腺机能减退、身材矮小，偶尔伴有高血糖和（或）糖尿病。H综合征包括色素性多毛症伴胰岛素依赖性糖尿病综合征（PHID）、费萨拉巴德组织细胞增生症（FHC）、家族性窦组织细胞增生伴巨大淋巴结病（FSHML）、部分的骨硬化性发育不全。"},"tr":{"name":"H sendromu"}},"xrefs":[{"source":"OMIM","code":"602782","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D76.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"107155297"},{"source":"MONDO","code":"0011273","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864445","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10239","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":254707,"name":"Faisalabad histiocytosis","status":"inactive"},{"type":"Moved to","orpha":254712,"name":"Familial sinus histiocytosis with massive lymphadenopathy","status":"inactive"},{"type":"Moved to","orpha":254723,"name":"Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome","status":"inactive"}],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]},{"orpha":181371,"name":"Rare diabetes mellitus type 1","classifications":[193]},{"orpha":183625,"name":"Rare genetic diabetes mellitus","classifications":[156]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"SLC29A3","name":"solute carrier family 29 member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18940313[PMID]","hgnc":"23096","ensembl":"ENSG00000198246","omim":"612373","loci":["10q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"24172204[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24172204[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-02-29","source":"22238637[PMID]_21888995[PMID]_18940313[PMID]_18410979[PMID]_16155931[PMID]_16650224[PMID]_16118898[PMID]_9545394[PMID]_7524755[PMID]_24131530[PMID]_24172204[PMID]","terms":[{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100727","label":"Histiocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100324","label":"Scleroderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030053","label":"Stiff skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000534","label":"Abnormal eyebrow morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011025","label":"Abnormality of cardiovascular system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000141","label":"Amenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002257","label":"Chronic rhinitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000204","label":"Cleft upper lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001084","label":"Corneal arcus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000105","label":"Enlarged kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007380","label":"Facial telangiectasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009125","label":"Lipodystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001935","label":"Microcytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003765","label":"Psoriasiform dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001954","label":"Recurrent fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100776","label":"Recurrent pharyngitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012724","label":"Upper eyelid edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002619","label":"Varicose veins","frequency":"Occasional (29-5%)","criteria":null}]}}