Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

mutation in RBM28 gene

Also Known As:

ANE Syndrome

Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Hair Diseases: 36
    - Hypotrichosis: 170
      - Alopecia: 7880
        Alopecia, Neurologic Defects, and Endocrinopathy Syndrome: 4
Signs and Symptoms Pathological Conditions
- Anatomical Pathological Conditions
  - Alopecia: 7880
    - Alopecia, Neurologic Defects, and Endocrinopathy Syndrome: 4
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        Alopecia, Neurologic Defects, and Endocrinopathy Syndrome: 4
Endocrine System Diseases: 968
- Alopecia, Neurologic Defects, and Endocrinopathy Syndrome: 4
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Alopecia, Neurologic Defects, and Endocrinopathy Syndrome: 4
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - Alopecia, Neurologic Defects, and Endocrinopathy Syndrome: 4
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - Alopecia, Neurologic Defects, and Endocrinopathy Syndrome: 4

Related Diseases

1.	Inborn Genetic Diseases (Disease, Hereditary)
2.	Alopecia (Baldness)

Experts

1.	Baserga, Susan J: 2 articles (11/2021 - 01/2016)
2.	Sprecher, Eli: 2 articles (08/2015 - 06/2010)
3.	Bryant, Carson J: 1 article (11/2021)
4.	Lorea, Cláudia F: 1 article (11/2021)
5.	Pinto E Vairo, Filippo: 1 article (11/2021)
6.	Vedolin, Leonardo: 1 article (11/2021)
7.	Weinert, Letícia: 1 article (11/2021)
8.	de Almeida, Hiram Larangeira: 1 article (11/2021)
9.	McCann, Kathleen L: 1 article (01/2016)
10.	Tanaka Hall, Traci M: 1 article (01/2016)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Alopecia, Neurologic Defects, and Endocrinopathy Syndrome:

1.	Proteins (Proteins, Gene)FDA Link 01/01/2016 - "We conclude that the ANE syndrome mutation generates defective protein folding which abrogates protein-protein interactions and causes faulty pre-LSU rRNA processing, thus revealing one aspect of the molecular basis of this human disease." 01/01/2016 - "Here we demonstrate that the ANE syndrome mutation disrupts Nop4's hub function by abrogating several of Nop4's protein-protein interactions. " 08/01/2015 - "RBM28, a protein deficient in ANE syndrome, regulates hair follicle growth via miR-203 and p63." 08/01/2015 - "Alopecia-neurological defects-endocrinopathy (ANE) syndrome is a rare inherited hair disorder, which was shown to result from decreased expression of the RNA-binding motif protein 28 (RBM28). "
2.	RNA Splice SitesIBA 11/01/2021 - "Unlike the previously reported patients with the p.(Leu351Pro) RBM28 variant, this ANE syndrome patient possesses biallelic precursor messenger RNA (pre-mRNA) splicing variants at the 5' splice sites of exon 5 (ΔE5) and exon 8 (ΔE8) of RBM28 (NM_018077.2:c.[541+1_541+2delinsA]; [946G > T]). "
3.	Messenger RNA (mRNA)IBA 11/01/2021 - "Unlike the previously reported patients with the p.(Leu351Pro) RBM28 variant, this ANE syndrome patient possesses biallelic precursor messenger RNA (pre-mRNA) splicing variants at the 5' splice sites of exon 5 (ΔE5) and exon 8 (ΔE8) of RBM28 (NM_018077.2:c.[541+1_541+2delinsA]; [946G > T]). "
4.	RNA Precursors (Precursor, mRNA)IBA 11/01/2021 - "This discovery further defines the underlying molecular pathology of ANE syndrome to include genetic variants that cause aberrant splicing in RBM28 pre-mRNA and highlights the centrality of nucleolar processes in human genetic disease." 11/01/2021 - "Unlike the previously reported patients with the p.(Leu351Pro) RBM28 variant, this ANE syndrome patient possesses biallelic precursor messenger RNA (pre-mRNA) splicing variants at the 5' splice sites of exon 5 (ΔE5) and exon 8 (ΔE8) of RBM28 (NM_018077.2:c.[541+1_541+2delinsA]; [946G > T]). "
5.	Nuclear Proteins (Protein, Nuclear)IBA 01/01/2016 - "ANE syndrome is a ribosomopathy caused by a mutation in an RNA recognition motif of RBM28, a nucleolar protein conserved to yeast (Nop4). "
6.	Hormones (Hormone)IBA 06/01/2010 - "The endocrine defects characteristic of ANE syndrome are compatible with variable combined anterior pituitary hormone deficiency (CPHD), which evolves gradually over the years, indicating long-term hormonal monitoring. "