Nicolaides Baraitser syndrome

Also Known As:

Nicolaides-Baraitser Syndrome; Sparse hair and mental retardation

Networked: 12 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Foot Deformities: 448
  - Congenital Foot Deformities: 7
    - Nicolaides Baraitser syndrome: 12
- Musculoskeletal Abnormalities: 43
  - Congenital Limb Deformities: 8
    - Congenital Lower Extremity Deformities
      - Congenital Foot Deformities: 7
        Nicolaides Baraitser syndrome: 12
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Congenital Limb Deformities: 8
      - Congenital Lower Extremity Deformities
        Congenital Foot Deformities: 7
        Nicolaides Baraitser syndrome: 12
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Hair Diseases: 36
    - Hypotrichosis: 170
      - Nicolaides Baraitser syndrome: 12
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Nicolaides Baraitser syndrome: 12
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Disease Attributes: 18
    - Facies: 585
      - Nicolaides Baraitser syndrome: 12
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        Nicolaides Baraitser syndrome: 12
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - Nicolaides Baraitser syndrome: 12
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - Nicolaides Baraitser syndrome: 12

Related Diseases

1.	Intellectual Disability (Idiocy)
2.	Coffin-Siris syndrome
3.	Rare Diseases (Rare Disease)
4.	Inborn Genetic Diseases (Disease, Hereditary)
5.	Seizures (Absence Seizure)

Experts

1.	Betts, David R: 1 article (05/2022)
2.	Duignan, Sophie: 1 article (05/2022)
3.	Foley, Ross: 1 article (05/2022)
4.	Green, Andrew: 1 article (05/2022)
5.	McArdle, Linda: 1 article (05/2022)
6.	McMahon, Colin J: 1 article (05/2022)
7.	Choorapoikayil, Suma: 1 article (01/2021)
8.	Goehring, Marie: 1 article (01/2021)
9.	Messroghli, Leila: 1 article (01/2021)
10.	Nishiwaki, Kimitoshi: 1 article (01/2021)

Drugs and Biologics

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

1.	ChromatinIBA 05/01/2022 - "Nicolaides-Baraitser syndrome is a rare, neuro-developmental disorder caused by heterozygous pathogenic variants in the SMARCA2 gene, involved with chromatin regulation. " 01/01/2022 - "Clinical phenotypes of our patient resembled the features of Nicolaides-Baraitser syndrome, which might have been primarily caused by the haploinsufficiency of SMARCA2 (SWI/SNF-related, matrix associated, actin-dependent regulator of chromatin, subfamily A, member 2) gene located at 9p24.3." 01/01/2021 - "Nicolaides-Baraitser syndrome (NCBRS) is a rare disease caused by mutations in the SMRCA2 gene, which affects chromatin remodelling and leads to a wide range of symptoms including microcephaly, distinct facial features, recurrent seizures, and severe mental retardation. "
2.	Adenosine Triphosphatases (ATPase)IBA 01/01/2017 - "This de novo SMARCA2 missense mutation c.3721C>G, p.Gln1241Glu is the only reported mutation on exon 26 outside the ATPase domain of SMARCA2 to be associated with Nicolaides-Baraitser syndrome and adds to chromatin remodeling as a pathway for epileptogenesis. " 01/01/2019 - "Heterozygous mutations in the SMARCA2 ATPase cause Nicolaides-Baraitser syndrome (NCBRS), an intellectual disability syndrome associated with delayed speech onset. " 09/01/2014 - "Nicolaides-Baraitser syndrome (NCBRS) is an intellectual disability (ID)/multiple congenital anomalies syndrome caused by non-truncating mutations in the ATPase region of SMARCA2, which codes for one of the two alternative catalytic subunits of the BAF chromatin remodeling complex. "
3.	Sucrose (Saccharose)IBA 06/01/2013 - "Mutations in the components of the SWItch/sucrose nonfermentable (SWI/SNF)-like chromatin remodeling complex have recently been reported to cause Coffin-Siris syndrome (CSS), Nicolaides-Baraitser syndrome (NCBRS), and ARID1B-related intellectual disability (ID) syndrome. " 11/01/2012 - "Heterozygous germline mutations in components of switch/sucrose nonfermenting (SWI/SNF) chromatin remodeling complexes were recently identified in patients with non-syndromic intellectual disability, Coffin-Siris syndrome and Nicolaides-Baraitser syndrome. "
4.	Valproic Acid (Depakote)FDA LinkGeneric 01/01/2020 - "Cooccurrence of Two Different Genetic Diseases: A Case of Valproic Acid Hepatotoxicity in Nicolaides-Baraitser Syndrome (SMARCA2 Mutation)-Due to a POLG1-Related Effect?"
5.	Proteins (Proteins, Gene)FDA Link 01/01/2018 - "Mutations in genes that encode proteins of the SWI/SNF complex, called BAF complex in mammals, cause a spectrum of disorders that ranges from syndromic intellectual disability to Coffin-Siris syndrome (CSS) to Nicolaides-Baraitser syndrome (NCBRS). "
6.	NucleotidesIBA 01/01/2018 - "Finally, single-nucleotide variants and indels are sometimes detected in the healthy relatives of tumor patients, while Coffin-Siris syndrome and Nicolaides-Baraitser syndrome generally seem to appear de novo. "

Therapies and Procedures

1.	Airway Management 01/01/2021 - "Difficult Airway Management in a Patient With Nicolaides-Baraitser Syndrome Who Had a Small Jaw and Limited Mouth Opening."