Scalp-ear-nipple syndrome

Preferred Label : Scalp-ear-nipple syndrome;

Symbol : SENS;

CISMeF acronym : SENS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sen syndrome; Finlay-marks syndrome;

Description : Scalp-ear-nipple syndrome is characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families (Marneros et al., 2013).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the potassium channel tetramerization domain-containing 1 (KCTD1, 613420.0001);

Prefixed ID : #181270;

Détails

Origin ID

181270;

UMLS CUI

C1867020;

Automatic exact mappings (from CISMeF team)
- Meaning [NCIt concept]
- Unselected Clinical Trial Site Documentation [NCIt concept]
- scalp-ear-nipple syndrome [DO Concept]
Currated CISMeF NLP mapping
- Scalp ear nipple syndrome [MeSH concept]
- Scalp, ear, nipple syndrome (disorder) [SNOMED CT concept]
- Scalp-ear-nipple syndrome [ICD-11 More detail]
- Scalp-ear-nipple syndrome [ORDO Disease]
- scalp ear nipple syndrome [MeSH Supplementary Concept]
- sener syndrome [MeSH concept]
DO Cross reference
- scalp-ear-nipple syndrome [DO Concept]
Genes related to phenotype
- Potassium channel tetramerization domain-containing protein 1 [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- 3-4 finger cutaneous syndactyly [HPO term]
- Abnormal hair morphology [HPO term]
- Abnormal thorax morphology [HPO term]
- Abnormality of the endocrine system [HPO term]
- Abnormality of the nail [HPO term]
- Agenesis of permanent teeth [HPO term]
- Anteverted nares [HPO term]
- Aplasia cutis congenita [HPO term]
- Aplasia/Hypoplasia of the nipples [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Breast aplasia [HPO term]
- Cupped ear [HPO term]
- Depressed nasal bridge [HPO term]
- Developmental cataract [HPO term]
- Epicanthus [HPO term]
- Fine hair [HPO term]
- Hypertension [HPO term]
- Hypotelorism [HPO term]
- Iris coloboma [HPO term]
- Low-set ears [HPO term]
- Mandibular prognathia [HPO term]
- Microtia [HPO term]
- Nail dysplasia [HPO term]
- Narrow palpebral fissure [HPO term]
- Palpebral edema [HPO term]
- Protruding ear [HPO term]
- Pyelonephritis [HPO term]
- Renal agenesis [HPO term]
- Renal hypoplasia [HPO term]
- Renal insufficiency [HPO term]
- Short columella [HPO term]
- Small earlobe [HPO term]
- Small/rudimentary tragus, antitragus and lobule [HPO term]
- Sparse hair [HPO term]
- Underdeveloped antitragus [HPO term]
- Underdeveloped tragus [HPO term]
ORDO concept(s)
- Scalp-ear-nipple syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Scalp ear nipple syndrome [MeSH concept]
- Scalp, ear, nipple syndrome (disorder) [SNOMED CT concept]
- Scalp-ear-nipple syndrome [ORDO Disease]
- Scalp-ear-nipple syndrome [ICD-11 More detail]
- scalp ear nipple syndrome [MeSH Supplementary Concept]
- scalp-ear-nipple syndrome [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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