Details of Disease

General Information of Disease (ID: DISZIT3W)

Disease Name Scalp-ear-nipple syndrome
Synonyms scalp ear nipple syndrome; SENS; hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples; Sen syndrome; scalp-EAR-nipple syndrome; Finlay-Marks syndrome; scalp-ear-nipple syndrome
Definition
Scalp-ear-nipple syndrome is characterized by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.
Disease Hierarchy
DISZQZB4: Mixed dermis disorder
DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
DISLRS4M: Ectodermal dysplasia
DISZIT3W: Scalp-ear-nipple syndrome
Disease Identifiers
MONDO ID
MONDO_0008404
MESH ID
C536623
UMLS CUI
C1867020
OMIM ID
181270
MedGen ID
357183
Orphanet ID
2036
SNOMED CT ID
721888002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KCTD1 OT89U5MB Definitive Autosomal dominant [1]
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References

1 Mutations in KCTD1 cause scalp-ear-nipple syndrome. Am J Hum Genet. 2013 Apr 4;92(4):621-6. doi: 10.1016/j.ajhg.2013.03.002. Epub 2013 Mar 28.