Kaufman oculocerebrofacial syndrome

Severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet

Networked: 7 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Eye Diseases: 3522
- Eye Abnormalities: 95
  - Kaufman oculocerebrofacial syndrome: 7
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Kaufman oculocerebrofacial syndrome: 7
- Nervous System Malformations: 35
  - Malformations of Cortical Development: 376
    - Group I Malformations of Cortical Development
      - Microcephaly: 1471
        Kaufman oculocerebrofacial syndrome: 7
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Disease Attributes: 18
    - Facies: 585
      - Kaufman oculocerebrofacial syndrome: 7
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        Kaufman oculocerebrofacial syndrome: 7
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - Kaufman oculocerebrofacial syndrome: 7
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - Kaufman oculocerebrofacial syndrome: 7
Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Microcephaly: 1471
      - Kaufman oculocerebrofacial syndrome: 7
  - Congenital Limb Deformities: 8
    - Kaufman oculocerebrofacial syndrome: 7

Related Diseases

1.	Blepharophimosis
2.	Muscle Hypotonia (Hypotonia)
3.	Intellectual Disability (Idiocy)
4.	Angelman Syndrome (Syndrome, Angelman)
5.	Autism Spectrum Disorder

Experts

1.	Ambrozkiewicz, Mateusz C: 2 articles (01/2021 - 11/2020)
2.	Borck, Guntram: 2 articles (01/2021 - 07/2014)
3.	Kawabe, Hiroshi: 2 articles (01/2021 - 11/2020)
4.	Tarabykin, Victor: 2 articles (01/2021 - 11/2020)
5.	Yilmaz, Rüstem: 2 articles (01/2021 - 07/2014)
6.	Altas, Bekir: 1 article (01/2021)
7.	Boehm-Sturm, Philipp: 1 article (01/2021)
8.	Borisova, Ekaterina: 1 article (01/2021)
9.	Dere, Ekrem: 1 article (01/2021)
10.	Horan, Stephen T: 1 article (01/2021)

Drugs and Biologics

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

1.	CholesterolIBA 10/01/2017 - "Recent genome-wide studies found that patients with hypotonia, developmental delay, intellectual disability, congenital anomalies, characteristic facial dysmorphic features, and low cholesterol levels suffer from Kaufman oculocerebrofacial syndrome (KOS, also reported as blepharophimosis-ptosis-intellectual disability syndrome). " 07/01/2014 - "Biallelic mutations of UBE3B have recently been shown to cause Kaufman oculocerebrofacial syndrome (also reported as blepharophimosis-ptosis-intellectual disability syndrome), an autosomal recessive condition characterized by hypotonia, developmental delay, intellectual disability, congenital anomalies, characteristic facial dysmorphic features, and low cholesterol levels. "
2.	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 11/01/2023 - "Mutations in E3 ubiquitin ligase UBE3B have been linked to Kaufman Oculocerebrofacial Syndrome (KOS). " 08/01/2013 - "Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome."
3.	Proteins (Proteins, Gene)FDA Link 01/01/2021 - "The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc." 03/01/2015 - "UBE3B encodes a widely expressed protein ubiquitin ligase E3B, which, when mutated in both alleles, causes Kaufman oculocerebrofacial syndrome. "
4.	Ligases (Synthetase)IBA 11/10/2020 - "In this review article, we summarize recent findings on brain-expressed HECT-type E3 UBE3 ligases and their murine orthologues, comprising Angelman syndrome UBE3A, Kaufman oculocerebrofacial syndrome UBE3B and autism spectrum disorder-associated UBE3C. " 03/01/2015 - "UBE3B encodes a widely expressed protein ubiquitin ligase E3B, which, when mutated in both alleles, causes Kaufman oculocerebrofacial syndrome. "
5.	UbiquitinIBA 03/01/2015 - "UBE3B encodes a widely expressed protein ubiquitin ligase E3B, which, when mutated in both alleles, causes Kaufman oculocerebrofacial syndrome. "