Histiocytosis-Lymphadenopathy Plus Syndrome (HLAS)

组织细胞增生-淋巴肿大综合征(来自ICD-11)

别称:

H Syndrome

Shml

Histiocytosis with Joint Contractures and Sensorineural Deafness

Faisalabad Histiocytosis

Rosai-Dorfman Disease

Pigmented Hypertrichosis with Insulin-Dependent Diabetes Mellitus

Sinus Histiocytosis and Massive Lymphadenopathy

Phid

Hjcd

Sinus Histiocytosis with Massive Lymphadenopathy

Familial Rosai-Dorfman Disease

Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, and Hypogonadism with or Without Hearing Loss

Histiocytosis and Lymphadenopathy with or Without Cutaneous, Cardiac, and/or Endocrine Features, Joint Contractures, and/or Deafness

Cutaneous Hyperpigmentation with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, and Hypogonadism with or Without Hearing Loss

Histiocytosis and Lymphadenopathy with or Without Cutaneous, Cardiac, and/or Endocrine Features, Joint Contractures and/or Deafness

Cutaneous Hyperpigmentation with Hypertrichosis Hepatosplenomegaly Heart Anomalies and Hypogonadism with or Without Hearing Loss

Histiocytosis and Lymphadenopathy with or Without Cutaneous Cardiac and/or Endocrine Features Joint Contractures and/or Deafness

Rosai-Dorfman Disease, Familial

Destombes-Rosaï-Dorfman Disease

Rosaï-Dorfman-Destombes Disease

Destombes-Rosai-Dorfman Disease

Rosai-Dorfman-Destombes Disease

Slc29a3 Spectrum Disorder

Rosaï-Dorfman Disease

Sinus Histiocytosis

Slc29a3 Disorder

H Disease

Hlas

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

组织细胞增生症-淋巴结病综合症，也称为H综合征，与血红蛋白H病和IgG4相关疾病有关，症状包括发热。与组织细胞增生症-淋巴结病综合症有关的重要基因是SLC29A3（溶质载体家族29成员3），其相关通路/超级通路包括NFE2L2介导的核事件和昼夜节律钟。在该疾病的背景下提到了泼尼松和霉酚酸。附属组织包括心脏和皮肤，相关表型包括延迟青春期和发热。

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