autosomal recessive Ichthyosis with hypotrichosis

Also Known As:

Ichthyosis with hypotrichosis, autosomal recessive; Autosomal recessive ichthyosis with hypotrichosis; Ichthyosis, Follicular Atrophoderma, Hypotrichosis, and Hypohidrosis

Networked: 5 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Skin and Connective Tissue Diseases
- Skin Diseases: 13127
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Skin Abnormalities: 159
    - Ichthyosis: 1008
      - autosomal recessive Ichthyosis with hypotrichosis: 5
- Diseases Newborn Infant: 266
  - Ichthyosis: 1008
    - autosomal recessive Ichthyosis with hypotrichosis: 5

Related Diseases

1.	Ichthyosis (Xeroderma)
2.	autosomal recessive Ichthyosis with hypotrichosis
3.	Inborn Genetic Diseases (Disease, Hereditary)

Experts

1.	Baksh, Adrienne N H: 1 article (02/2014)
2.	Barndt, Robert: 1 article (02/2014)
3.	Chen, Ya-Wen: 1 article (02/2014)
4.	Chiu, Han: 1 article (02/2014)
5.	Chou, Fen-Pai: 1 article (02/2014)
6.	Hsiao, Hui-Chung: 1 article (02/2014)
7.	Johnson, Michael D: 1 article (02/2014)
8.	Kaul, Malvika: 1 article (02/2014)
9.	Lin, Chen-Yong: 1 article (02/2014)
10.	Shanmugam, Victoria K: 1 article (02/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to autosomal recessive Ichthyosis with hypotrichosis:

1.	Peptide Hydrolases (Proteases)FDA Link 04/18/2008 - "Our study, thus, provides direct evidence that the G827R mutation in patients with autosomal recessive ichthyosis with hypotrichosis leads to the expression of an inactive protease." 04/18/2008 - "Mutation G827R in matriptase causing autosomal recessive ichthyosis with hypotrichosis yields an inactive protease."
2.	matriptaseIBA 04/18/2008 - "It was recently shown that a rare genetic disorder, autosomal recessive ichthyosis with hypotrichosis, is caused by a mutation in the coding region of matriptase. " 02/01/2014 - "Genetic defects in matriptase are linked to two congenital ichthyoses: autosomal recessive ichthyosis with hypotrichosis (ARIH, OMIM 610765) and ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis (IFAH, OMIM 602400). " 04/18/2008 - "Mutation G827R in matriptase causing autosomal recessive ichthyosis with hypotrichosis yields an inactive protease." 03/01/2007 - "Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase." 07/01/2008 - "Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a mutation in the ST14 gene, which encodes serine protease matriptase. "
3.	Serine Proteases (Serine Protease)IBA 03/01/2007 - "Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase." 07/01/2008 - "Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a mutation in the ST14 gene, which encodes serine protease matriptase. " 12/14/2007 - "Human autosomal recessive ichthyosis with hypotrichosis (ARIH) is an inherited disorder recently linked to homozygosity for a point mutation in the ST14 gene that causes a G827R mutation in the matriptase serine protease domain (G216 in chymotrypsin numbering). "
4.	Chymotrypsin FDA Link 12/14/2007 - "Human autosomal recessive ichthyosis with hypotrichosis (ARIH) is an inherited disorder recently linked to homozygosity for a point mutation in the ST14 gene that causes a G827R mutation in the matriptase serine protease domain (G216 in chymotrypsin numbering). "