Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia

Also Known As:

MICPCH; MICPCH Syndrome

Networked: 9 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Microcephaly: 1471
      - Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia: 9
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - X-Linked Mental Retardation: 272
        Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia: 9
- Nervous System Malformations: 35
  - Malformations of Cortical Development: 376
    - Group I Malformations of Cortical Development
      - Microcephaly: 1471
        Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia: 9
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Microcephaly: 1471
        Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia: 9
  - Nervous System Malformations: 35
    - Malformations of Cortical Development: 376
      - Group I Malformations of Cortical Development
        Microcephaly: 1471
        Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia: 9
- Inborn Genetic Diseases: 11939
  - Nervous System Heredodegenerative Disorders: 63
    - X-Linked Mental Retardation: 272
      - Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia: 9
  - X-Linked Genetic Diseases: 42
    - X-Linked Mental Retardation: 272
      - Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia: 9

Related Diseases

1.	Microcephaly
2.	Intellectual Disability (Idiocy)
3.	Nervous System Diseases (Neurological Disorders)
4.	Brain Diseases (Brain Disorder)
5.	Epilepsy (Aura)

Experts

1.	Mukherjee, Konark: 2 articles (01/2022 - 12/2017)
2.	Kutsche, Kerstin: 2 articles (01/2021 - 04/2015)
3.	LaConte, Leslie E W: 1 article (01/2022)
4.	Srivastava, Sarika: 1 article (01/2022)
5.	Aggarwal, Shagun: 1 article (01/2021)
6.	Becker, Kerstin: 1 article (01/2021)
7.	Dingmann, Bri: 1 article (01/2021)
8.	Harms, Frederike Leonie: 1 article (01/2021)
9.	Kattentidt-Mouravieva, Anja A: 1 article (01/2021)
10.	Kreienkamp, Hans-Jürgen: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:

1.	Serine (L-Serine)FDA Link 01/01/2023 - "To assess whether microcephaly with pontine and cerebellar hypoplasia (MICPCH) could manifest in the prenatal period in patients with calcium/calmodulin-dependent serine protein kinase (CASK) gene disorders. " 01/01/2023 - "Calcium/calmodulin-dependent serine protein kinase (CASK) gene mutations cause microcephaly with pontine and cerebellar hypoplasia (MICPCH) and X-linked intellectual disability. " 01/01/2022 - "MICPCH (microcephaly and pontocerebellar hypoplasia) is a monogenic condition that results from variants of an X-linked gene, CASK (calcium/calmodulin-dependent serine protein kinase). " 01/01/2021 - "Mutations in the X-linked gene coding for the calcium-/calmodulin-dependent serine protein kinase (CASK) are associated with severe neurological disorders ranging from intellectual disability (in males) to mental retardation and microcephaly with pontine and cerebellar hypoplasia. " 08/01/2017 - "The calcium/calmodulin-dependent serine protein kinase gene (CASK) mutations are associated with various neurological disorders; a syndrome of intellectual disability (ID) and microcephaly with pontine and cerebellar hypoplasia (MICPCH), FG syndrome, X-linked ID with/without nystagmus, epileptic encephalopathy, and autistic spectrum disorder (ASD). "
2.	Protein Kinases (Protein Kinase)IBA 01/01/2023 - "To assess whether microcephaly with pontine and cerebellar hypoplasia (MICPCH) could manifest in the prenatal period in patients with calcium/calmodulin-dependent serine protein kinase (CASK) gene disorders. " 01/01/2023 - "Calcium/calmodulin-dependent serine protein kinase (CASK) gene mutations cause microcephaly with pontine and cerebellar hypoplasia (MICPCH) and X-linked intellectual disability. " 01/01/2022 - "MICPCH (microcephaly and pontocerebellar hypoplasia) is a monogenic condition that results from variants of an X-linked gene, CASK (calcium/calmodulin-dependent serine protein kinase). " 01/01/2021 - "Mutations in the X-linked gene coding for the calcium-/calmodulin-dependent serine protein kinase (CASK) are associated with severe neurological disorders ranging from intellectual disability (in males) to mental retardation and microcephaly with pontine and cerebellar hypoplasia. " 08/01/2017 - "The calcium/calmodulin-dependent serine protein kinase gene (CASK) mutations are associated with various neurological disorders; a syndrome of intellectual disability (ID) and microcephaly with pontine and cerebellar hypoplasia (MICPCH), FG syndrome, X-linked ID with/without nystagmus, epileptic encephalopathy, and autistic spectrum disorder (ASD). "
3.	Calmodulin (Calcium-Dependent Activator Protein)IBA 01/01/2023 - "To assess whether microcephaly with pontine and cerebellar hypoplasia (MICPCH) could manifest in the prenatal period in patients with calcium/calmodulin-dependent serine protein kinase (CASK) gene disorders. " 01/01/2023 - "Calcium/calmodulin-dependent serine protein kinase (CASK) gene mutations cause microcephaly with pontine and cerebellar hypoplasia (MICPCH) and X-linked intellectual disability. " 01/01/2022 - "MICPCH (microcephaly and pontocerebellar hypoplasia) is a monogenic condition that results from variants of an X-linked gene, CASK (calcium/calmodulin-dependent serine protein kinase). " 01/01/2021 - "Mutations in the X-linked gene coding for the calcium-/calmodulin-dependent serine protein kinase (CASK) are associated with severe neurological disorders ranging from intellectual disability (in males) to mental retardation and microcephaly with pontine and cerebellar hypoplasia. " 08/01/2017 - "The calcium/calmodulin-dependent serine protein kinase gene (CASK) mutations are associated with various neurological disorders; a syndrome of intellectual disability (ID) and microcephaly with pontine and cerebellar hypoplasia (MICPCH), FG syndrome, X-linked ID with/without nystagmus, epileptic encephalopathy, and autistic spectrum disorder (ASD). "
4.	CalciumIBA 01/01/2023 - "To assess whether microcephaly with pontine and cerebellar hypoplasia (MICPCH) could manifest in the prenatal period in patients with calcium/calmodulin-dependent serine protein kinase (CASK) gene disorders. " 01/01/2023 - "Calcium/calmodulin-dependent serine protein kinase (CASK) gene mutations cause microcephaly with pontine and cerebellar hypoplasia (MICPCH) and X-linked intellectual disability. " 01/01/2022 - "MICPCH (microcephaly and pontocerebellar hypoplasia) is a monogenic condition that results from variants of an X-linked gene, CASK (calcium/calmodulin-dependent serine protein kinase). " 01/01/2021 - "Mutations in the X-linked gene coding for the calcium-/calmodulin-dependent serine protein kinase (CASK) are associated with severe neurological disorders ranging from intellectual disability (in males) to mental retardation and microcephaly with pontine and cerebellar hypoplasia. " 08/01/2017 - "The calcium/calmodulin-dependent serine protein kinase gene (CASK) mutations are associated with various neurological disorders; a syndrome of intellectual disability (ID) and microcephaly with pontine and cerebellar hypoplasia (MICPCH), FG syndrome, X-linked ID with/without nystagmus, epileptic encephalopathy, and autistic spectrum disorder (ASD). "
5.	Proteins (Proteins, Gene)FDA Link 04/12/2015 - "Based on eight novel patients and all CASK-mutation positive males reported previously three phenotypic groups can be distinguished that represent a clinical continuum: (i) MICPCH with severe epileptic encephalopathy caused by hemizygous loss-of-function mutations, (ii) MICPCH associated with inactivating alterations in the mosaic state or a partly penetrant mutation, and (iii) syndromic/nonsyndromic mild to severe ID with or without nystagmus caused by CASK missense and splice mutations that leave the CASK protein intact but likely alter its function or reduce the amount of normal protein. " 01/01/2023 - "Notably, missense mutations associated with epilepsy and intellectual disability were found throughout the whole region of the CASK protein, while missense mutations related to microcephaly and MICPCH were restricted in certain domains. "
6.	Nonsense Codon (Nonsense Mutation)IBA 01/01/2012 - "Here, mutations and copy numbers of CASK were examined in ten females with MR and MICPCH, and the following changes were detected: nonsense mutations in three cases, a 2-bp deletion in one case, mutations at exon-intron junctions in two cases, heterozygous deletions encompassing CASK in two cases and interstitial duplications in two cases. "

Therapies and Procedures

1.	Therapeutics 12/19/2017 - "This case series suggests that children with MICPCH are responsive to intensive therapy aimed at increasing functional skills/independence. " 12/19/2017 - "We pilot-tested an intensive therapy in three girls with heterozygous mutation in the gene CASK and MICPCH. "