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HID Syndrome

mutation in GJB2

Also Known As:

Hystrix-Like Ichthyosis with Deafness; Ichthyosis, Hystrix-Like, with Deafness

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Otorhinolaryngologic Diseases: 203
- Ear Diseases: 261
  - Hearing Disorders: 325
    - Hearing Loss: 12265
      - Sensorineural Hearing Loss: 3974
        HID Syndrome: 1
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Sensation Disorders: 117
    - Hearing Disorders: 325
      - Hearing Loss: 12265
        Sensorineural Hearing Loss: 3974
        HID Syndrome: 1
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Sensation Disorders: 117
      - Hearing Disorders: 325
        Hearing Loss: 12265
        Sensorineural Hearing Loss: 3974
        HID Syndrome: 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Skin Abnormalities: 159
    - Ichthyosis: 1008
      - HID Syndrome: 1
- Diseases Newborn Infant: 266
  - Ichthyosis: 1008
    - HID Syndrome: 1
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Keratosis: 706
    - Ichthyosis: 1008
      - HID Syndrome: 1
  - Skin Abnormalities: 159
    - Ichthyosis: 1008
      - HID Syndrome: 1

Related Diseases

1.	Keratitis, Ichthyosis, and Deafness (KID) Syndrome

Experts

1.	Happle, R: 1 article (06/2002)
2.	Hennies, H C: 1 article (06/2002)
3.	König, A: 1 article (06/2002)
4.	Küster, W: 1 article (06/2002)
5.	Steijlen, P M: 1 article (06/2002)
6.	van Geel, M: 1 article (06/2002)
7.	van Steensel, M A M: 1 article (06/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to HID Syndrome:

1.	ParaffinIBA 06/01/2002 - "DNA was extracted from paraffin-embedded tissue samples of the first HID syndrome patient described in the literature. "
2.	DNA (Deoxyribonucleic Acid)IBA 06/01/2002 - "DNA was extracted from paraffin-embedded tissue samples of the first HID syndrome patient described in the literature. "
3.	Connexin 26IBA 06/01/2002 - "Restriction analysis of the connexin 26 gene in HID syndrome demonstrated the presence of the KID syndrome mutation that we previously described. "