syndromic 7 Microphthalmia

An X-linked dominant disorder characterized by unilateral or bilateral microphthalmia and linear skin defects limited to the face and neck and consisting of areas of aplastic skin that heal with age to form hyperpigmented areas in affected females; affected males dies in utero. Mutations in the HCCS gene have been identified. OMIM: 309801

Also Known As:

Microphthalmia, syndromic 7; Linear skin defects with multiple congenital anomalies 1; MCOPS7; Microphthalmia with Linear Skin Defects Syndrome; Microphthalmia with Linear Skin Lesions Syndrome; Microphthalmia with linear skin defects; Microphthalmia, dermal aplasia, and sclerocornea; Midas Syndrome; Syndromic Microphthalmia-7

Networked: 7 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Neurodevelopmental Disorders
2.	Ventricular Tachycardia
3.	Microphthalmos
4.	Body Weight (Weight, Body)

Experts

1.	Barrientos, Antoni: 1 article (12/2004)
2.	Diaz, Franscisca: 1 article (12/2004)
3.	Moraes, Carlos T: 1 article (12/2004)
4.	Cormier, Trena A: 1 article (12/2002)
5.	Garcia, Jesus J: 1 article (12/2002)
6.	Haupt, Bisong: 1 article (12/2002)
7.	McCall, Alanna E: 1 article (12/2002)
8.	Prakash, Siddharth K: 1 article (12/2002)
9.	Sierra, Rebecca: 1 article (12/2002)
10.	Van Den Veyver, Ignatia B: 1 article (12/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to syndromic 7 Microphthalmia:

1.	Ligases (Synthetase)IBA 12/01/2002 - "Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome." 06/01/1996 - "Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS)." 06/30/1998 - "The human holocytochrome c-type synthetase (HCCS) gene is located on Xp22.3 and is one of the genes identified in a 450-Kb region deleted in the neurodevelopmental disorder microphthalmia with linear skin defects. "
2.	GTPase-Activating Proteins (GTPase-Activating Protein)IBA 12/01/1997 - "Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects."
3.	rho GTPase-activating proteinIBA 03/01/2000 - "Microphthalmia with linear skin defects (MLS) is an X-linked dominant, male-lethal syndrome characterized by microphthalmia, aplastic skin and agenesis of the corpus callosum, and is caused by the deletion of a 500 kb critical region in Xp22.3. Our laboratory isolated a novel rho GTPase-activating protein (rhoGAP) gene named ARHGAP6 from the MLS region. "
4.	cytochrome C synthetaseIBA 12/06/2004 - "Deletion of the cytochrome c heme lyase gene in a single allele has also been associated with a human disease, known as Microphthalmia with Linear Skin defects (MLS) syndrome. "

Therapies and Procedures

Catheter Ablation

06/01/2002 - "A 5-month-old white female infant (body weight 5.5 kg) with MIDAS syndrome who suffered from incessant polymorphic VT (ventricular rates 250 to 300 beats/min) and was unresponsive to medical treatment resulting in significantly depressed left ventricular (LV) function underwent a total of four catheter ablation procedures during a 5-month period. "
06/01/2002 - "Complete elimination of incessant polymorphic ventricular tachycardia in an infant with MIDAS syndrome: use of endocardial mapping and radiofrequency catheter ablation."