Histiocytosis with joint contractures and sensorineural deafness

Also Known As:

Faisalabad histiocytosis; Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, and Hypogonadism With or Without Hearing Loss; Pigmented Hypertrichosis With Insulin-Dependent Diabetes Mellitus Syndrome

Networked: 7 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Muscular Diseases: 10128
  - Contracture: 8558
    - Histiocytosis with joint contractures and sensorineural deafness: 7
- Joint Diseases: 6509
  - Contracture: 8558
    - Histiocytosis with joint contractures and sensorineural deafness: 7
Otorhinolaryngologic Diseases: 203
- Ear Diseases: 261
  - Hearing Disorders: 325
    - Hearing Loss: 12265
      - Sensorineural Hearing Loss: 3974
        Histiocytosis with joint contractures and sensorineural deafness: 7
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Sensation Disorders: 117
    - Hearing Disorders: 325
      - Hearing Loss: 12265
        Sensorineural Hearing Loss: 3974
        Histiocytosis with joint contractures and sensorineural deafness: 7
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Sensation Disorders: 117
      - Hearing Disorders: 325
        Hearing Loss: 12265
        Sensorineural Hearing Loss: 3974
        Histiocytosis with joint contractures and sensorineural deafness: 7
Hemic and Lymphatic Diseases: 6
- Lymphatic Diseases: 92
  - Histiocytosis: 520
    - Histiocytosis with joint contractures and sensorineural deafness: 7

Related Diseases

1.	Sinus Histiocytosis (Rosai-Dorfman Disease)
2.	Hypertrichosis
3.	Histiocytosis
4.	Skin Diseases (Skin Disease)
5.	Dysosteosclerosis

Experts

1.	Ben Rejeb, Mohamed: 1 article (10/2021)
2.	Boussofara, Lobna: 1 article (10/2021)
3.	Chouk, Hamza: 1 article (10/2021)
4.	Denguezli, Mohamed: 1 article (10/2021)
5.	Elmabrouk, Haїfa: 1 article (10/2021)
6.	Ghariani, Najet: 1 article (10/2021)
7.	H'Mida, Dorra: 1 article (10/2021)
8.	Saad, Ali: 1 article (10/2021)
9.	Sriha, Badreddine: 1 article (10/2021)
10.	Behroozi, Samira: 1 article (01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Histiocytosis with joint contractures and sensorineural deafness:

1.	Insulin (Novolin)FDA Link 06/15/2009 - "SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway." 09/01/2013 - "The phenotype and genotype of the siblings were compatible with that of the H syndrome, although the features were overlapping with those found in pigmented hypertrichotic dermatosis with insulin-dependent diabetes, familial SHML, and Faisalabad histiocytosis, indicating that these four syndromes may be regarded as one disease with varying phenotypic features. " 09/01/2013 - "An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis." 05/01/2013 - "SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis." 01/01/2012 - "Germline mutations in SLC29A3 have been reported in rare patients with a wide range of overlapping clinical features and inherited disorders including H syndrome, pigmented hypertrichosis with insulin-dependent diabetes, and Faisalabad histiocytosis. "
2.	Nucleoside Transport Proteins (Nucleoside Transporter)IBA 02/05/2010 - "Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease." 09/01/2013 - "The SLC29A3 gene, encoding hENT3, a member of the equilibrative nucleoside transporter family, has recently been found mutated in Faisalabad histiocytosis, pigmented hypertrichotic dermatosis with insulin-dependent diabetes, familial sinus histiocytosis with massive lymphadenopathy (SHML), and H syndromes. " 10/17/2021 - "Mutations in the SLC29A3 gene, which encodes the nucleoside transporter hENT3, have been implicated in syndromic forms of histiocytosis including H syndrome, pigmented hypertrichosis with insulin-dependent diabetes, Faisalabad histiocytosis and Familial Rosai-Dorfman disease (RDD). "