Mandibuloacral dysplasia with type B lipodystrophy

Autosomal recessive disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, joint contractures, and mottled cutaneous pigmentation. Associated with mutations in the gene encoding ZMPSTE24 protein.

Also Known As:

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

Disease Context: Research Results

Related Diseases

1.	Premature Aging
2.	Microcephaly

Experts

1.	Abbasi, Ansar Ahmad: 1 article (07/2022)
2.	Abbasi, Sumra Wajid: 1 article (07/2022)
3.	Ahmad Khan, Muzammil: 1 article (07/2022)
4.	Al Kaissi, Ali: 1 article (07/2022)
5.	Auinger, Lisa: 1 article (07/2022)
6.	Blatterer, Jasmin: 1 article (07/2022)
7.	Kaufmann, Lukas: 1 article (07/2022)
8.	Khan, Aiman Saeed: 1 article (07/2022)
9.	Petek, Erwin: 1 article (07/2022)
10.	Schaflinger, Erich: 1 article (07/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mandibuloacral dysplasia with type B lipodystrophy:

1.	monoaminocarboxydihydroboraneIBA 07/30/2022 - "Biallelic mutations in ZMPSTE24 are known to be associated with autosomal recessive mandibuloacral dysplasia with type B lipodystrophy (MADB) and lethal restrictive dermopathy (RD), respectively. " 01/01/2019 - "We report the first case of mandibuloacral dysplasia with type B lipodystrophy (MADB) in Chile, South America. " 12/19/2019 - "Mandibuloacral Dysplasia with type B lipodystrophy (MADB) is a rare premature aging disorder with an autosomal recessive inheritance pattern. " 10/01/2023 - "Restrictive dermopathy (RD) is a lethal condition caused by biallelic loss-of-function mutations in ZMPSTE24, whereas mutations preserving residual enzymatic activity of the ZMPSTE24 protein lead to the milder mandibuloacral dysplasia with type B lipodystrophy (MADB) phenotype. "
2.	Proteins (Proteins, Gene)FDA Link 10/01/2023 - "Restrictive dermopathy (RD) is a lethal condition caused by biallelic loss-of-function mutations in ZMPSTE24, whereas mutations preserving residual enzymatic activity of the ZMPSTE24 protein lead to the milder mandibuloacral dysplasia with type B lipodystrophy (MADB) phenotype. "

Therapies and Procedures

1.	Sutures (Suture) 10/01/2016 - "The patient had typical dermatological and skeletal features of mandibuloacral dysplasia with type B lipodystrophy, sparse hair, short stature, mild microcephaly, facial dysmorphism, and a striking failure of ossification of the interparietal region of the occipital bone, up to the position where transverse occipital suture can be observed. "