Christianson Type Syndromic X-Linked Mental Retardation

mutation in SLC9A6

Also Known As:

Mental Retardation, X-Linked, Syndromic, Christianson Type; Angelman-Like Syndrome, X-Linked; Christianson Syndrome; Intellectual Deficit, X-Linked, South African Type; Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome

Networked: 13 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Dyskinesias: 7807
      - Ataxia: 6364
        Christianson Type Syndromic X-Linked Mental Retardation: 13
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        Christianson Type Syndromic X-Linked Mental Retardation: 13
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - Christianson Type Syndromic X-Linked Mental Retardation: 13
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - Christianson Type Syndromic X-Linked Mental Retardation: 13
Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Microcephaly: 1471
      - Christianson Type Syndromic X-Linked Mental Retardation: 13
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Microcephaly: 1471
        Christianson Type Syndromic X-Linked Mental Retardation: 13
  - Nervous System Malformations: 35
    - Malformations of Cortical Development: 376
      - Group I Malformations of Cortical Development
        Microcephaly: 1471
        Christianson Type Syndromic X-Linked Mental Retardation: 13
- Inborn Genetic Diseases: 11939
  - X-Linked Genetic Diseases: 42
    - Christianson Type Syndromic X-Linked Mental Retardation: 13
Eye Diseases: 3522
- Ocular Motility Disorders: 514
  - Christianson Type Syndromic X-Linked Mental Retardation: 13

Related Diseases

1.	Neurodevelopmental Disorders
2.	Leukoencephalopathies
3.	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C)
4.	Parkinson Disease (Parkinson's Disease)
5.	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis)

Experts

1.	Morrow, Eric M: 3 articles (01/2022 - 10/2013)
2.	Schmidt, Michael: 3 articles (01/2022 - 10/2013)
3.	Orlowski, John: 3 articles (11/2020 - 01/2016)
4.	Ouyang, Qing: 2 articles (01/2022 - 10/2013)
5.	Boucher, Annie: 2 articles (01/2020 - 01/2016)
6.	Ilie, Alina: 2 articles (01/2020 - 01/2016)
7.	McKinney, R Anne: 2 articles (01/2020 - 01/2016)
8.	Berg, Elizabeth L: 1 article (01/2022)
9.	Fernandez, Marty A: 1 article (01/2022)
10.	Lee, YouJin: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Christianson Type Syndromic X-Linked Mental Retardation:

1.	Amyloid (Amyloid Fibrils)IBA 01/01/2022 - "Therefore, to study neurodegeneration in Christianson syndrome and the possibility of amyloid-β and tau pathology, we generated an NHE6-null rat model of Christianson syndrome using CRISPR-Cas9 genome-editing. "
2.	Protons (Proton)IBA 01/01/2022 - "Sodium-proton exchanger 6 (NHE6) contributes to the maintenance of proper endosomal pH, and loss-of function mutations in the X-linked NHE6 lead to Christianson syndrome (CS) in males. " 11/01/2020 - "Christianson syndrome is caused by mutations in the alkali cation/proton exchanger SLC9A6/NHE6 that regulates recycling endosomal pH homeostasis and trafficking. " 01/01/2020 - "Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome." 01/01/2016 - "Christianson Syndrome, a recently identified X-linked neurodevelopmental disorder, is caused by mutations in the human gene SLC9A6 encoding the recycling endosomal alkali cation/proton exchanger NHE6. " 10/04/2023 - "Recently, it was discovered that patients with acute reversible leukoencephalopathy and a-ketoglutarate accumulation (ARLIAK) carry pathogenic mutations in the SLC13A3 gene, and the X-linked neurodevelopmental condition Christianson Syndrome is caused by mutations in the SLC9A6 gene, which encodes the recycling endosomal alkali cation/proton exchanger NHE6, also called sodium-hydrogen exchanger-6. "
3.	Proteins (Proteins, Gene)FDA Link 10/02/2013 - "Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development." 01/01/2023 - "There is emerging evidence that the Christianson syndrome protein NHE6 is a prominent ApoE4 effector linking endosomal function to Aβ pathologies. " 04/01/2016 - "In particular, proteins that create and maintain the correct compartmental pH, such as the endosomal Na(+)/H(+) exchangers (NHEs), have been implicated in a wide range of human diseases, including cardiovascular, inflammatory bowel, renal, and neurologic disorders, which demonstrates the critical cellular function of these proteins.(1-3) Two NHEs, NHE6 and NHE9, have been linked to neurologic disorders in children.(4) Pathologic variants in SLC9A6 encoding NHE6 cause an Angelman-like disorder called Christianson syndrome. " 12/22/2017 - "SLC9A6 gene encodes for a sodium/hydrogen exchanger-6 protein mainly involved in endosomal trafficking and maintaining intraluminal pH. Loss of function mutations in SLC9A6 gene in children has been associated with Christianson syndrome and autism spectrum disorder. "
4.	CationsIBA 11/01/2020 - "Christianson syndrome is caused by mutations in the alkali cation/proton exchanger SLC9A6/NHE6 that regulates recycling endosomal pH homeostasis and trafficking. " 01/01/2020 - "Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome." 01/01/2016 - "Christianson Syndrome, a recently identified X-linked neurodevelopmental disorder, is caused by mutations in the human gene SLC9A6 encoding the recycling endosomal alkali cation/proton exchanger NHE6. " 10/04/2023 - "Recently, it was discovered that patients with acute reversible leukoencephalopathy and a-ketoglutarate accumulation (ARLIAK) carry pathogenic mutations in the SLC13A3 gene, and the X-linked neurodevelopmental condition Christianson Syndrome is caused by mutations in the SLC9A6 gene, which encodes the recycling endosomal alkali cation/proton exchanger NHE6, also called sodium-hydrogen exchanger-6. "
5.	AlkaliesIBA 11/01/2020 - "Christianson syndrome is caused by mutations in the alkali cation/proton exchanger SLC9A6/NHE6 that regulates recycling endosomal pH homeostasis and trafficking. " 01/01/2020 - "Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome." 01/01/2016 - "Christianson Syndrome, a recently identified X-linked neurodevelopmental disorder, is caused by mutations in the human gene SLC9A6 encoding the recycling endosomal alkali cation/proton exchanger NHE6. " 10/04/2023 - "Recently, it was discovered that patients with acute reversible leukoencephalopathy and a-ketoglutarate accumulation (ARLIAK) carry pathogenic mutations in the SLC13A3 gene, and the X-linked neurodevelopmental condition Christianson Syndrome is caused by mutations in the SLC9A6 gene, which encodes the recycling endosomal alkali cation/proton exchanger NHE6, also called sodium-hydrogen exchanger-6. "
6.	SodiumIBA 01/01/2022 - "Sodium-proton exchanger 6 (NHE6) contributes to the maintenance of proper endosomal pH, and loss-of function mutations in the X-linked NHE6 lead to Christianson syndrome (CS) in males. " 12/22/2017 - "SLC9A6 gene encodes for a sodium/hydrogen exchanger-6 protein mainly involved in endosomal trafficking and maintaining intraluminal pH. Loss of function mutations in SLC9A6 gene in children has been associated with Christianson syndrome and autism spectrum disorder. " 10/04/2023 - "Recently, it was discovered that patients with acute reversible leukoencephalopathy and a-ketoglutarate accumulation (ARLIAK) carry pathogenic mutations in the SLC13A3 gene, and the X-linked neurodevelopmental condition Christianson Syndrome is caused by mutations in the SLC9A6 gene, which encodes the recycling endosomal alkali cation/proton exchanger NHE6, also called sodium-hydrogen exchanger-6. "
7.	Sodium-Hydrogen ExchangersIBA 10/01/2014 - "Recently, Christianson syndrome (CS) has been determined to be caused by mutations in the X-linked Na(+) /H(+) exchanger 6 (NHE6). " 04/01/2016 - "In particular, proteins that create and maintain the correct compartmental pH, such as the endosomal Na(+)/H(+) exchangers (NHEs), have been implicated in a wide range of human diseases, including cardiovascular, inflammatory bowel, renal, and neurologic disorders, which demonstrates the critical cellular function of these proteins.(1-3) Two NHEs, NHE6 and NHE9, have been linked to neurologic disorders in children.(4) Pathologic variants in SLC9A6 encoding NHE6 cause an Angelman-like disorder called Christianson syndrome. "
8.	HydrogenIBA 12/22/2017 - "SLC9A6 gene encodes for a sodium/hydrogen exchanger-6 protein mainly involved in endosomal trafficking and maintaining intraluminal pH. Loss of function mutations in SLC9A6 gene in children has been associated with Christianson syndrome and autism spectrum disorder. " 10/04/2023 - "Recently, it was discovered that patients with acute reversible leukoencephalopathy and a-ketoglutarate accumulation (ARLIAK) carry pathogenic mutations in the SLC13A3 gene, and the X-linked neurodevelopmental condition Christianson Syndrome is caused by mutations in the SLC9A6 gene, which encodes the recycling endosomal alkali cation/proton exchanger NHE6, also called sodium-hydrogen exchanger-6. "
9.	Apolipoprotein E4IBA 01/01/2023 - "There is emerging evidence that the Christianson syndrome protein NHE6 is a prominent ApoE4 effector linking endosomal function to Aβ pathologies. "
10.	NucleotidesIBA 11/01/2018 - "We describe five male patients from three unrelated families with Christianson syndrome caused by a pathogenic nucleotide variation or a copy-number variation involving SLC9A6. "