Histiocytosis-lymphadenopathy plus syndrome

Preferred Label : Histiocytosis-lymphadenopathy plus syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Histiocytosis with joint contractures and sensorineural deafness; SHML; Sinus histiocytosis and massive lymphadenopathy; PHID; H syndrome; Faisalabad histiocytosis; Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss; HJCD; Histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures, and/or deafness; Pigmented hypertrichosis with insulin-dependent diabetes mellitus; Rosai-dorfman disease, familial;

Description : The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC described an autosomal recessive disease involving joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes (summary by Morgan et al., 2010).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 29 (nucleoside transporter), member 3 gene (SLC29A3, 612373.0001);

Laboratory abnormalities : Elevated inflammatory markers;

Prefixed ID : #602782;

Détails

Origin ID

602782;

UMLS CUI

C1864445;

Automatic exact mappings (from CISMeF team)
- Faisalabad histiocytosis [ICD-11 More detail]
- Faisalabad histiocytosis [ORDO Disease]
- H syndrome [ICD-11 More detail]
- Histiocytosis with joint contractures and sensorineural deafness [MeSH concept]
- Other histiocytosis syndromes [ICD-10 Sub-category]
- Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome [ORDO Disease]
- Rosai Dorfman disease [PASCAL descriptor]
- Rosai-Dorfman-Destombes Disease [NCIt concept]
- Rosaï-Dorfman disease [ORDO Disease]
- Sinus histiocytosis with massive lymphadenopathy [ICD-11 More detail]
- Sinus histiocytosis with massive lymphadenopathy (disorder) [SNOMED CT concept]
- histiocytosis with joint contractures and sensorineural deafness [MeSH Supplementary Concept]
- histiocytosis, sinus [MeSH Descriptor]
- histiocytosis, sinus [MeSH concept]
- histiocytosis-lymphadenopathy plus syndrome [DO Concept]
- sinus histiocytosis with massive lymphadenopathy [SNOMED Notion]
CISMeF manual mappings
- Histiocytosis-lymphadenopathy plus syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- H syndrome [Disease (Nov.)]
- H syndrome [ORDO Disease]
- H syndrome [PASCAL descriptor]
DO Cross reference
- histiocytosis-lymphadenopathy plus syndrome [DO Concept]
Genes related to phenotype
- Solute carrier family 29 (nucleoside transporter), member 3: slc29a3 [OMIM gene]
HPO term(s)
- Alopecia of scalp [HPO term]
- Anteverted nares [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Azoospermia [HPO term]
- Camptodactyly [HPO term]
- Camptodactyly of finger [HPO term]
- Cardiomegaly [HPO term]
- Cervical lymphadenopathy [HPO term]
- Clinodactyly [HPO term]
- Corneal arcus [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Downslanted palpebral fissures [HPO term]
- Elbow flexion contracture [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Episcleritis [HPO term]
- Facial telangiectasia [HPO term]
- Fever [HPO term]
- Flexion contracture of finger [HPO term]
- Flexion contracture of toe [HPO term]
- Gynecomastia [HPO term]
- Hallux valgus [HPO term]
- Hearing impairment [HPO term]
- Hepatomegaly [HPO term]
- Hepatosplenomegaly [HPO term]
- Histiocytosis [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Hypertrichotic hyperpigmented patch [HPO term]
- Joint contracture of the 5th finger [HPO term]
- Left superior vena cava draining to coronary sinus [HPO term]
- Lymphadenopathy [HPO term]
- Micropenis [HPO term]
- Mitral valve prolapse [HPO term]
- Pancreatic hypoplasia [HPO term]
- Patent ductus arteriosus [HPO term]
- Pes planus [HPO term]
- Proptosis [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Pulmonic stenosis [HPO term]
- Retrognathia [HPO term]
- Retroperitoneal fibrosis [HPO term]
- Rocker bottom foot [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short stature [HPO term]
- Splenomegaly [HPO term]
- Tibial torsion [HPO term]
- Type I diabetes mellitus [HPO term]
- Varicose veins [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Faisalabad histiocytosis [ORDO Disease]
- H syndrome [ORDO Disease]
- Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome [ORDO Disease]
- Rosaï-Dorfman disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Faisalabad histiocytosis [ORDO Disease]
- H syndrome [ORDO Disease]
- H syndrome [PASCAL descriptor]
- H syndrome [Disease (Nov.)]
- Histiocytosis with joint contractures and sensorineural deafness [MeSH concept]
- Histiocytosis-lymphadenopathy plus syndrome [MedDRA Preferred Term]
- Histiocytosis-lymphadenopathy plus syndrome (disorder) [SNOMED CT concept]
- Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome [ORDO Disease]
- histiocytosis with joint contractures and sensorineural deafness [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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