Acromesomelic dysplasia

Also Known As:

Acromesomelic Dwarfism; Acromesomelic Dysplasia, Hunter-Thompson Type; Acromesomelic dysplasia Hunter Thompson type; Acromesomelic dysplasia Hunter-Thompson type; St Helena dysplasia; St. Helena Dysplasia

Networked: 19 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Dwarfism: 1191
      - Acromesomelic dysplasia: 19
    - Osteochondrodysplasias: 592
      - Acromesomelic dysplasia: 19
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Dwarfism: 1191
    - Acromesomelic dysplasia: 19
  - Osteochondrodysplasias: 592
    - Acromesomelic dysplasia: 19
Endocrine System Diseases: 968
- Dwarfism: 1191
  - Acromesomelic dysplasia: 19

Related Diseases

1.	Syringomyelia (Morvan's Disease)
2.	Mucopolysaccharidosis IV (Morquio Syndrome)
3.	Mucopolysaccharidosis III (Sanfilippo Syndrome)
4.	Mucolipidoses (Sialidosis)
5.	Hydrocephalus (Hydrocephaly)

Experts

1.	Ahmad, Istaq: 2 articles (01/2022 - 01/2021)
2.	Faruq, Mohammed: 2 articles (01/2022 - 01/2021)
3.	Kapoor, Seema: 2 articles (01/2022 - 01/2021)
4.	Kumar, Somesh: 2 articles (01/2022 - 01/2021)
5.	Offiah, Amaka C: 2 articles (01/2022 - 08/2021)
6.	Shamim, Uzma: 2 articles (01/2022 - 01/2021)
7.	Wadhwa, Saruchi: 2 articles (01/2022 - 01/2021)
8.	Zahra, Sana: 2 articles (01/2022 - 01/2021)
9.	Ahmad, Wasim: 2 articles (01/2018 - 06/2012)
10.	Khan, Saadullah: 2 articles (01/2018 - 06/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Acromesomelic dysplasia:

1.	Natriuretic PeptidesIBA 09/01/2019 - "Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux." 12/01/2016 - "Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux." 06/12/2012 - "Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux." 07/01/2004 - "Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux." 01/01/2022 - "In humans, biallelic variants in NPR2, encoding NPR-B, cause acromesomelic dysplasia, type Maroteaux, while heterozygous variants in NPR2 (natriuretic peptide receptor 2) and NPPC (natriuretic peptide precursor C), encoding CNP, cause milder phenotypes. "
2.	atrial natriuretic factor receptor BIBA 08/01/2021 - "A mild case of acromesomelic dysplasia, type Maroteaux with novel natriuretic peptide receptor B (NPR2) variants." 01/01/2015 - "Bartels et al. defined mutations in NPR2 gene, encoding natriuretic peptide receptor B (NPR-B), underlying Acromesomelic dysplasia, type Maroteaux. " 10/01/2013 - "Based on the stature observed in relatives of patients with acromesomelic dysplasia, type Maroteaux, homozygous for mutations in natriuretic peptide receptor B gene (NPR2), it has been suggested that heterozygous mutations in this gene could be responsible for the growth impairment observed in some children with idiopathic short stature (ISS). " 01/01/2018 - "Homozygous and/or heterozygous loss of function mutations in the natriuretic peptide receptor B (NPR2) have been reported in causing acromesomelic dysplasia, type Maroteaux with variable clinical features and idiopathic short stature with nonspecific skeletal deformities. "
3.	aminotris(methylenephosphonato)diamminoplatinum (II) (AMDP)IBA 10/04/2023 - "Acromesomelic dysplasia, PRKG2 type (AMDP, MIM 619636), is an extremely rare autosomal recessive skeletal dysplasia characterized by severe disproportionate short stature presenting with acromesomelia, mild metaphyseal widening of the long bones and mild spondylar dysplasia. " 01/01/2022 - "In conclusion, we have clinically and molecularly characterised a new acromesomelic dysplasia, acromesomelic dysplasia, PRKG2 type (AMDP)." 01/01/2021 - "Generation of induced pluripotent stem cell line (IGIBi007-A) from a patient with a novel acromesomelic dysplasia, PRKG2 type (AMDP)."
4.	Guanylate Cyclase (Guanylyl Cyclase)IBA 01/01/2010 - "In humans, loss-of-function mutations in the gene coding for guanylyl cyclase-B (GC-B), the specific receptor for CNP, have been proved to be the cause of acromesomelic dysplasia, type Maroteaux, one form of human skeletal dysplasias. " 10/01/2021 - "Activating mutations in fibroblast growth factor receptor 3 (FGFR3) and inactivating mutations in the natriuretic peptide receptor 2 (NPR2) guanylyl cyclase both result in decreased production of cyclic GMP in chondrocytes and severe short stature, causing achondroplasia (ACH) and acromesomelic dysplasia, type Maroteaux, respectively. "
5.	Type 3 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 3)IBA 10/01/2021 - "Activating mutations in fibroblast growth factor receptor 3 (FGFR3) and inactivating mutations in the natriuretic peptide receptor 2 (NPR2) guanylyl cyclase both result in decreased production of cyclic GMP in chondrocytes and severe short stature, causing achondroplasia (ACH) and acromesomelic dysplasia, type Maroteaux, respectively. "
6.	Nonsense Codon (Nonsense Mutation)IBA 01/01/2020 - "A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan)."
7.	Cyclic GMP-Dependent Protein Kinases (Protein Kinase G)IBA 01/01/2021 - "Biallelic PRKG2 (Protein Kinase, cGMP dependent Type-2) mutations cause a novel acromesomelic dysplasia PRKG2 type. "
8.	Growth Hormone (Somatotropin)IBA 01/01/2020 - "Acromesomelic Dysplasia, Type Maroteaux: Impact of Long-Term (8 Years) High-Dose Growth Hormone Treatment on Growth Velocity and Final Height in 2 Siblings."
9.	Protein Kinases (Protein Kinase)IBA 01/01/2022 - "Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia."
10.	Cyclic GMPIBA 10/01/2021 - "Activating mutations in fibroblast growth factor receptor 3 (FGFR3) and inactivating mutations in the natriuretic peptide receptor 2 (NPR2) guanylyl cyclase both result in decreased production of cyclic GMP in chondrocytes and severe short stature, causing achondroplasia (ACH) and acromesomelic dysplasia, type Maroteaux, respectively. "

Therapies and Procedures

1.	Anesthesia 10/01/2013 - "Anesthesia for a patient of acromesomelic dysplasia with associated hydrocephalus, Arnold Chiari malformation and syringomyelia."