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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 Proteases
IBA
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.
Ubiquitin
IBA
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 Enzymes
IBA
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.
"