Fountain syndrome

Also Known As:

Mental Retardation, Sensorineural Deafness, Skeletal Abnormalities, And Coarse Face With Full Lips; Mental retardation-deafnes, skeletal abnormalities, coarse face with full lips

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Fountain syndrome: 2
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Fountain syndrome: 2
Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Fountain syndrome: 2
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Fountain syndrome: 2
Otorhinolaryngologic Diseases: 203
- Ear Diseases: 261
  - Hearing Disorders: 325
    - Hearing Loss: 12265
      - Deafness: 5416
        Fountain syndrome: 2
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Fountain syndrome: 2
  - Sensation Disorders: 117
    - Hearing Disorders: 325
      - Hearing Loss: 12265
        Deafness: 5416
        Fountain syndrome: 2
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        Fountain syndrome: 2
    - Sensation Disorders: 117
      - Hearing Disorders: 325
        Hearing Loss: 12265
        Deafness: 5416
        Fountain syndrome: 2
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - Fountain syndrome: 2
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - Fountain syndrome: 2

Related Diseases

1.	Neurodevelopmental Disorders
2.	Intellectual Disability (Idiocy)
3.	Autistic Disorder (Autism)

Drugs and Biologics

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

1.	Ubiquitin-Specific ProteasesIBA 09/01/2023 - "Hao-Fountain syndrome (HAFOUS) is a rare neurodevelopmental disorder caused by mutations in the ubiquitin-specific protease 7 (USP7) gene for endosomal recycling. "
2.	UbiquitinIBA 10/27/2023 - "Collectively, our findings reveal a novel USP7-Ppil4 ubiquitin signaling link that regulates neuronal connectivity in the developing brain, with implications for our understanding of the pathogenesis of the Hao-Fountain syndrome." 10/27/2023 - "The Hao-Fountain syndrome protein USP7 regulates neuronal connectivity in the brain via a novel p53-independent ubiquitin signaling pathway."
3.	Proteins (Proteins, Gene)FDA Link 10/27/2023 - "The Hao-Fountain syndrome protein USP7 regulates neuronal connectivity in the brain via a novel p53-independent ubiquitin signaling pathway."
4.	Deubiquitinating EnzymesIBA 10/27/2023 - "Mutation or deletion of the deubiquitinase USP7 causes the Hao-Fountain syndrome, characterized by developmental delay, intellectual disability, autism, and aggressive behavior. "