Primrose syndrome

Ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Networked: 5 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Primrose syndrome: 5
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Calcium Metabolism Disorders: 47
    - Calcinosis: 1855
      - Primrose syndrome: 5
Otorhinolaryngologic Diseases: 203
- Ear Diseases: 261
  - Primrose syndrome: 5
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Primrose syndrome: 5
  - Neuromuscular Manifestations: 23
    - Muscular Atrophy: 4339
      - Primrose syndrome: 5
Signs and Symptoms Pathological Conditions
- Anatomical Pathological Conditions
  - Atrophy: 27387
    - Muscular Atrophy: 4339
      - Primrose syndrome: 5
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        Primrose syndrome: 5
    - Neuromuscular Manifestations: 23
      - Muscular Atrophy: 4339
        Primrose syndrome: 5
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - Primrose syndrome: 5
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - Primrose syndrome: 5

Related Diseases

1.	Megalencephaly
2.	Otitis Media
3.	Intellectual Disability (Idiocy)
4.	Sensorineural Hearing Loss

Experts

1.	Barão, Soraia: 1 article (01/2021)
2.	Costa, Marcos Romualdo: 1 article (01/2021)
3.	Espinosa, Ana: 1 article (01/2021)
4.	Gil-Sanz, Cristina: 1 article (01/2021)
5.	Mateos-White, Isabel: 1 article (01/2021)
6.	Medeiros de Araújo, Jéssica Alves: 1 article (01/2021)
7.	Müller, Ulrich: 1 article (01/2021)
8.	Arora, Veronica: 1 article (08/2020)
9.	Carvalho, Daniel Rocha: 1 article (08/2020)
10.	Diaz, Jullianne: 1 article (08/2020)

Drugs and Biologics

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

1.	Proteins (Proteins, Gene)FDA Link 01/01/2021 - "Astrogliogenesis is more severely disrupted by a ZBTB20 protein containing dominant mutations linked to Primrose syndrome, suggesting that ZBTB20 acts in concert with other ZBTB proteins that were also affected by the dominant-negative protein to instruct astrogliogenesis. " 01/01/2016 - "Recently, heterozygous de novo missense mutations in ZBTB20, coding for a zing finger protein, have been identified in Primrose syndrome patients. "
2.	Glucose (Dextrose)FDA LinkGeneric 08/01/2020 - "Primrose syndrome (OMIM 259050) is a rare disorder characterised by macrocephaly with developmental delay, a recognisable facial phenotype, altered glucose metabolism, and other features such as sensorineural hearing loss, short stature, and calcification of the ear cartilage. " 01/01/2018 - "Primrose syndrome (PS) is a rare disorder characterized by macrocephaly, tall stature, intellectual disability, autistic traits, and disturbances of glucose metabolism with insulin-resistant diabetes and distal muscle wasting occurring in adulthood. "
3.	Insulin (Novolin)FDA Link 01/01/2018 - "Primrose syndrome (PS) is a rare disorder characterized by macrocephaly, tall stature, intellectual disability, autistic traits, and disturbances of glucose metabolism with insulin-resistant diabetes and distal muscle wasting occurring in adulthood. "
4.	Immunoglobulin G (IgG)IBA 01/01/2020 - "Thus, there is a possibility of a relation between an unclassified immunodeficiency with selective IgG2 deficiency and Primrose syndrome and this may be the reason of recurrent otitis media frequently observed in Primrose patients. "