Information on Histiocytosis-lymphadenopathy plus syndrome

Basic details

Name: Histiocytosis-lymphadenopathy plus syndrome | Acronym:
Alt. names:

Gene: SLC29A3 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2008

Last updated on: 2023-02-28 16:41:18 by

OMIM: 602782

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Lipogranulomatous infiltration has been reported as benefiting from surgical interventions, radiotherapy, and medical treatment (eg, with cylophosphamide, prednisolone); Hormonal insufficiency, including hypogonadotropic hypogonadism, hypothyroidism, and growth hormone deficiency, may benefit from medical treatment; Individuals may manifest with early-onset hearing loss, and early recognition and treatment of hearing impairment may improve outcomes, including speech and language development. Refs. PMIDs: 16118898; 16631937; 16650224; 16155931; 16155931; 18940313; 19336477; 19175903; 19889517; 20140240; 20199414; 20199539; 20399510; 20619369; 21178579; 21888995; 22238637; 22356918; 22653152; 22875837; 22989030; 23058913; 23406517; 23530176; 23623699

Management

Description of management option has not been reviewed yet.

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0 reported cases added to GenIA

SubjectID Sex Fam.ID AD AFM Validity Country Population Reference & Pub.code

AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).

Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank Clinical term Present Absent Unreported
1 Hepatomegalyarrow icon 13 (56.5%) 0 (0.0%) 10 (43.5%)
2 Cervical lymphadenopathyarrow icon 12 (92.3%) 0 (0.0%) 1 (7.7%)
3 Lymphadenopathyarrow icon 12 (99.9%) 0 (0.0%) 0 (0.0%)
4 varicose veinsarrow icon 11 (57.9%) 0 (0.0%) 8 (42.1%)
5 Facial telangiectasiaarrow icon 10 (55.6%) 0 (0.0%) 8 (44.4%)
6 Hypertrichotic hyperpigmented patcharrow icon 10 (99.9%) 0 (0.0%) 0 (0.0%)
7 Hyperpigmentation of the skinarrow icon 9 (75.0%) 0 (0.0%) 3 (25.0%)
8 Episcleritisarrow icon 8 (57.1%) 0 (0.0%) 6 (42.9%)
9 Proptosisarrow icon 8 (38.1%) 0 (0.0%) 13 (61.9%)
10 Sensorineural hearing impairmentarrow icon 8 (72.7%) 0 (0.0%) 3 (27.3%)
11 Splenomegalyarrow icon 8 (66.7%) 0 (0.0%) 4 (33.3%)
12 Camptodactyly of fingerarrow icon 7 (99.9%) 0 (0.0%) 0 (0.0%)
13 Hallux valgusarrow icon 7 (87.5%) 0 (0.0%) 1 (12.5%)
14 Micropenisarrow icon 6 (50.0%) 0 (0.0%) 6 (50.0%)
15 Corneal arcusarrow icon 4 (40.0%) 0 (0.0%) 6 (60.0%)
16 Flexion contracture of fingerarrow icon 4 (99.9%) 0 (0.0%) 0 (0.0%)
17 Flexion contracture of toearrow icon 4 (99.9%) 0 (0.0%) 0 (0.0%)
18 Hearing impairmentarrow icon 4 (99.9%) 0 (0.0%) 0 (0.0%)
19 Histiocytosisarrow icon 4 (99.9%) 0 (0.0%) 0 (0.0%)
20 short staturearrow icon 4 (57.1%) 0 (0.0%) 3 (42.9%)
21 Tibial torsionarrow icon 4 (50.0%) 0 (0.0%) 4 (50.0%)
22 Azoospermiaarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
23 elevated ESRarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
24 Hepatosplenomegalyarrow icon 3 (75.0%) 0 (0.0%) 1 (25.0%)
25 Type I diabetes mellitusarrow icon 3 (75.0%) 0 (0.0%) 1 (25.0%)
26 Atrial septal defectarrow icon 2 (20.0%) 0 (0.0%) 8 (80.0%)
27 Camptodactylyarrow icon 2 (20.0%) 0 (0.0%) 8 (80.0%)
28 Clinodactylyarrow icon 2 (50.0%) 0 (0.0%) 2 (50.0%)
29 Feverarrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
30 Joint contracture of the 5th fingerarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
31 Mitral valve prolapsearrow icon 2 (20.0%) 0 (0.0%) 8 (80.0%)
32 Pes planusarrow icon 2 (50.0%) 0 (0.0%) 2 (50.0%)
33 Pulmonary arterial hypertensionarrow icon 2 (11.1%) 0 (0.0%) 16 (88.9%)
34 Alopecia of scalparrow icon 1 (50.0%) 0 (0.0%) 1 (50.0%)
35 Anteverted naresarrow icon 1 (50.0%) 0 (0.0%) 1 (50.0%)
36 Cardiomegalyarrow icon 1 (10.0%) 0 (0.0%) 9 (90.0%)
37 Downslanted palpebral fissuresarrow icon 1 (50.0%) 0 (0.0%) 1 (50.0%)
38 Gynecomastiaarrow icon 1 (50.0%) 0 (0.0%) 1 (50.0%)
39 Left superior vena cava draining to coronary sinusarrow icon 1 (12.5%) 0 (0.0%) 7 (87.5%)
40 Patent ductus arteriosusarrow icon 1 (12.5%) 0 (0.0%) 7 (87.5%)
41 Pulmonic stenosisarrow icon 1 (12.5%) 0 (0.0%) 7 (87.5%)
42 Retrognathiaarrow icon 1 (50.0%) 0 (0.0%) 1 (50.0%)
43 Rocker bottom footarrow icon 1 (12.5%) 0 (0.0%) 7 (87.5%)
44 Ventricular septal defectarrow icon 1 (10.0%) 0 (0.0%) 9 (90.0%)

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Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ Responses & clinical indications

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.