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Weill-Marchesani-Like Syndrome

mutations in ADAMTS17

Networked: 3 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Dwarfism: 1191
      - Weill-Marchesani-Like Syndrome: 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Dwarfism: 1191
    - Weill-Marchesani-Like Syndrome: 3
  - Hereditary Eye Diseases: 18
    - Weill-Marchesani-Like Syndrome: 3
Endocrine System Diseases: 968
- Dwarfism: 1191
  - Weill-Marchesani-Like Syndrome: 3
Eye Diseases: 3522
- Hereditary Eye Diseases: 18
  - Weill-Marchesani-Like Syndrome: 3

Related Diseases

1.	Weill-Marchesani Syndrome
2.	Open-Angle Glaucoma (Glaucoma, Open Angle)
3.	Ectopia Lentis
4.	Familial ectopia lentis
5.	Acromicric dysplasia

Experts

1.	Apte, Suneel S: 2 articles (01/2017 - 09/2015)
2.	Hubmacher, Dirk: 2 articles (01/2017 - 09/2015)
3.	Berardinelli, Steven J: 1 article (01/2017)
4.	Haltiwanger, Robert S: 1 article (01/2017)
5.	Reinhardt, Dieter P: 1 article (01/2017)
6.	Schneider, Michael: 1 article (01/2017)
7.	Takeuchi, Hideyuki: 1 article (01/2017)
8.	Willard, Belinda: 1 article (01/2017)
9.	Abid, Leila: 1 article (06/2013)
10.	Fischer, Judith: 1 article (06/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Weill-Marchesani-Like Syndrome:

1.	Metalloproteases (Metalloproteinases)IBA 01/01/2017 - "Recessive mutations in the secreted metalloprotease ADAMTS17 cause ectopia lentis and short stature in humans with Weill-Marchesani-like syndrome and primary open angle glaucoma and ectopia lentis in dogs. "
2.	Peptide Hydrolases (Proteases)FDA Link 09/01/2015 - "Whereas two such disorders, Weill-Marchesani syndrome 1 and Weill-Marchesani-like syndrome involve proteases (ADAMTS10 and ADAMTS17, respectively), geleophysic dysplasia and isolated ectopia lentis in humans involve ADAMTSL2 and ADAMTSL4, respectively, which are not proteases. "
3.	ADAMTS ProteinsIBA 09/01/2015 - "In addition to broadly similar dysmorphology, individuals affected by Weill-Marchesani syndrome 1, Weill-Marchesani-like syndrome or geleophysic dysplasia each show characteristic anomalies suggesting molecule-, tissue-, or context-specific functions for the respective ADAMTS proteins. "
4.	dihydroceramide desaturaseIBA 06/01/2013 - "Whereas mutations in ADAMTS17 have recently been identified in autosomal recessive Weill-Marchesani-like syndrome in humans and dogs presenting with ophthalmologic, cardiac, and skeletal abnormalities, no disease associations have been described for CERS3 (ceramide synthase 3) and FLJ42289 so far. "