Macs Syndrome (MACS)

Alias:

Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis

Anophthalmia-Microphthalmia Syndrome

Mycobacterium Avium Complex Disease

Colobomatous Microphthalmia

Rin2 Syndrome

Mac

Tall Forehead, Sparse Hair, Skin Hyperextensibility, and Scoliosis

Microphthalmia-Anophthalmia-Coloboma Syndrome

Mycobacterium Avium-Intracellulare Infection

Microphthalmia with Colobomatous Cyst

Mycobacterium Avium Infection

Tall Forehead-Sparse Hair-Skin Hyperextensibility-Scoliosis Syndrome

Macrocephaly Alopecia Cutis Laxa and Scoliosis Syndrome

Macrocephaly-Alopecia-Cutis Laxa-Scoliosis Syndrome

Infection Due to Mycobacterium Intracellulare

Microphthalmia-Anophthalmia-Coloboma

Microphthalmia and Mental Deficiency

Mycobacterium Avium Complex

Rin2 Deficiency

Mac Disease

Macs

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Macs Syndrome, also known as macrocephaly, alopecia, cutis laxa, and scoliosis, is related to microphthalmia, syndromic 9 and coloboma of macula, and has symptoms including swelling of eyelid An important gene associated with Macs Syndrome is RIN2 (Ras And Rab Interactor 2), and among its related pathways/superpathways are Gastrulation and Mesodermal commitment pathway. The drugs Pharmaceutical Solutions and Amikacin have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are scoliosis and high palate

Related ID：

MALACARDS：MCS006

OMIM：613075

MESH：D000505