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Nasodigitoacoustic syndrome

Also Known As:

Keipert Syndrome

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
      - Deafness: 5416
        Nasodigitoacoustic syndrome: 1
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Sensation Disorders: 117
    - Hearing Disorders: 325
      - Hearing Loss: 12265
        Deafness: 5416
        Nasodigitoacoustic syndrome: 1
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Sensation Disorders: 117
      - Hearing Disorders: 325
        Hearing Loss: 12265
        Deafness: 5416
        Nasodigitoacoustic syndrome: 1
Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Congenital Limb Deformities: 8
    - Congenital Lower Extremity Deformities
      - Nasodigitoacoustic syndrome: 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Congenital Limb Deformities: 8
      - Congenital Lower Extremity Deformities
        Nasodigitoacoustic syndrome: 1
- Inborn Genetic Diseases: 11939
  - X-Linked Genetic Diseases: 42
    - Nasodigitoacoustic syndrome: 1

Related Diseases

1.	Nasodigitoacoustic syndrome

Experts

1.	Agolini, Emanuele: 1 article (01/2019)
2.	Allen, Nicola J: 1 article (01/2019)
3.	Amor, David J: 1 article (01/2019)
4.	Bahlo, Melanie: 1 article (01/2019)
5.	Capolino, Rossella: 1 article (01/2019)
6.	Delatycki, Martin B: 1 article (01/2019)
7.	Dowling, Cari: 1 article (01/2019)
8.	Dumić, Miroslav: 1 article (01/2019)
9.	Kleefstra, Tjitske: 1 article (01/2019)
10.	Lee, Wei Shern: 1 article (01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Nasodigitoacoustic syndrome:

1.

01/01/2019 - "Overall, we have shown that pathogenic variants in GPC4 cause a loss of function that results in Keipert syndrome, making GPC4 the third human glypican to be linked to a genetic syndrome."
01/01/2019 - "Whole-exome sequencing of the Australian family that defined Keipert syndrome (nasodigitoacoustic syndrome) identified a hemizygous truncating variant in the gene encoding glypican 4 (GPC4). "