3mc Syndrome

3mc Syndrome(来自ICD-11)

别称:

Craniofacial-Ulnar-Renal Syndrome

Malpuech Facial Clefting Syndrome

Oculopalatoskeletal Syndrome

Carnevale Syndrome

Michels Syndrome

Malpuech-Michels-Mingarelli-Carnevale Syndrome

Ptosis of Eyelids with Diastasis Recti and Hip Dysplasia

Ptosis-Strabismus-Rectus Abdominis Diastasis

Carnevale-Krajewska-Fischetto Syndrome

Craniosynostosis with Lid Anomalies

Oculo-Skeletal-Abdominal Syndrome

Mingarelli Syndrome

Malpuech Syndrome

Osa Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

3mc Syndrome, also known as craniofacial-ulnar-renal syndrome, is related to 3mc syndrome 3 and 3mc syndrome 1, and has symptoms including torticollis An important gene associated with 3mc Syndrome is MASP1 (MBL Associated Serine Protease 1), and among its related pathways/superpathways are Innate Immune System and Complement cascade. The drugs Fentanyl and Desflurane have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related phenotypes are ptosis and hearing impairment

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