Anauxetic dysplasia

Also Known As:

Spondylometaepiphyseal dysplasia, Anauxetic type; Spondylometaepiphyseal dysplasia, Menger type

Networked: 4 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Dwarfism: 1191
      - Anauxetic dysplasia: 4
    - Osteochondrodysplasias: 592
      - Anauxetic dysplasia: 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Dwarfism: 1191
    - Anauxetic dysplasia: 4
  - Osteochondrodysplasias: 592
    - Anauxetic dysplasia: 4
Endocrine System Diseases: 968
- Dwarfism: 1191
  - Anauxetic dysplasia: 4

Related Diseases

1.	Cartilage-hair hypoplasia
2.	Coxa Vara
3.	Dwarfism

Experts

1.	Bhavani, Gandham S: 1 article (01/2019)
2.	Girisha, Katta M: 1 article (01/2019)
3.	Kausthubham, Neethukrishna: 1 article (01/2019)
4.	Mortier, Geert: 1 article (01/2019)
5.	Narayanan, Dhanya L: 1 article (01/2019)
6.	Shah, Hitesh: 1 article (01/2019)
7.	Shukla, Anju: 1 article (01/2019)
8.	Al Kaissi, Ali: 1 article (06/2014)
9.	Grill, Franz: 1 article (06/2014)
10.	Kenis, Vladimir: 1 article (06/2014)

Drugs and Biologics

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

1.	mitochondrial RNA-processing endoribonuclease (RNAse MRP)IBA 01/01/2019 - "Cartilage hair hypoplasia (CHH), anauxetic dysplasia 1, and anauxetic dysplasia 2 are rare metaphyseal dysplasias caused by biallelic pathogenic variants in RMRP and POP1, which encode the components of RNAse-MRP endoribonuclease complex (RMRP) in ribosomal biogenesis pathway. " 11/01/2005 - "Anauxetic dysplasia mutations thus lead to poor processing of ribosomal RNA while allowing normal mRNA processing and, therefore, genetically separate the different functions of RNase MRP." 03/01/2011 - "Our studies identified two novel compound heterozygous loss-of-function mutations in POP1, which encodes a core component of the RNase mitochondrial RNA processing (RNase MRP) complex that directly interacts with the RMRP RNA domains that are affected in anauxetic dysplasia. "
2.	RNA (Ribonucleic Acid)IBA 03/01/2011 - "Our studies identified two novel compound heterozygous loss-of-function mutations in POP1, which encodes a core component of the RNase mitochondrial RNA processing (RNase MRP) complex that directly interacts with the RMRP RNA domains that are affected in anauxetic dysplasia. "
3.	Ribonucleases (Ribonuclease)IBA 03/01/2011 - "Our studies identified two novel compound heterozygous loss-of-function mutations in POP1, which encodes a core component of the RNase mitochondrial RNA processing (RNase MRP) complex that directly interacts with the RMRP RNA domains that are affected in anauxetic dysplasia. "
4.	Mitochondrial RNAIBA 03/01/2011 - "Our studies identified two novel compound heterozygous loss-of-function mutations in POP1, which encodes a core component of the RNase mitochondrial RNA processing (RNase MRP) complex that directly interacts with the RMRP RNA domains that are affected in anauxetic dysplasia. "
5.	CyclinsIBA 11/01/2005 - "Whereas the cartilage hair hypoplasia founder mutation affects both pathways intermediately, anauxetic dysplasia mutations do not affect B-cyclin messenger RNA (mRNA) levels but do severely incapacitate ribosomal assembly via defective endonucleolytic cleavage. "
6.	Ribosomal RNAIBA 11/01/2005 - "Anauxetic dysplasia mutations thus lead to poor processing of ribosomal RNA while allowing normal mRNA processing and, therefore, genetically separate the different functions of RNase MRP."
7.	Messenger RNA (mRNA)IBA 11/01/2005 - "Whereas the cartilage hair hypoplasia founder mutation affects both pathways intermediately, anauxetic dysplasia mutations do not affect B-cyclin messenger RNA (mRNA) levels but do severely incapacitate ribosomal assembly via defective endonucleolytic cleavage. " 11/01/2005 - "Anauxetic dysplasia mutations thus lead to poor processing of ribosomal RNA while allowing normal mRNA processing and, therefore, genetically separate the different functions of RNase MRP."
8.	EndoribonucleasesIBA 01/01/2019 - "Cartilage hair hypoplasia (CHH), anauxetic dysplasia 1, and anauxetic dysplasia 2 are rare metaphyseal dysplasias caused by biallelic pathogenic variants in RMRP and POP1, which encode the components of RNAse-MRP endoribonuclease complex (RMRP) in ribosomal biogenesis pathway. "

Therapies and Procedures

1.	Osteotomy 06/01/2014 - "Valgus subtrochanteric osteotomies and hemiepiphyseodesis around the knees have been performed to correct severe coxa vara and genua valga in a girl patient who manifested extreme dwarfism associated with spondylometaepiphyseal dysplasia consistent with anauxetic dysplasia. "