Scalp-Ear-Nipple Syndrome (SENS)

Alias:
Finlay-Marks Syndrome
Sen Syndrome
Sens
Scalp Ear Nipple Syndrome
Hereditary Syndrome of Lumpy Scalp, Odd Ears, and Rudimentary Nipples
Hereditary Syndrome of Lumpy Scalp, Odd Ears and Rudimentary Nipples
Indian Childhood Cirrhosis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Scalp-Ear-Nipple Syndrome, also known as finlay-marks syndrome, is related to branchiooculofacial syndrome and chromosome 2q35 duplication syndrome, and has symptoms including swelling of eyelid An important gene associated with Scalp-Ear-Nipple Syndrome is KCTD1 (Potassium Channel Tetramerization Domain Containing 1), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Sweet Taste Signaling. The drugs Acetylsalicylic acid and Clopidogrel have been mentioned in the context of this disorder. Affiliated tissues include breast and skin, and related phenotypes are microtia and aplasia/hypoplasia of the nipples
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
13
64
10

Medical Symptom

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Description
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Gene & Mutation

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Disease Model

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MGI
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References Literature

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