SENS
MCID: SCL046
MIFTS: 29

Scalp-Ear-Nipple Syndrome (SENS) malady

Categories: Genetic diseases, Rare diseases, Ear diseases

Aliases & Classifications for Scalp-Ear-Nipple Syndrome

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Aliases & Descriptions for Scalp-Ear-Nipple Syndrome:

Name: Scalp-Ear-Nipple Syndrome 52 48 24 25 70 68
Finlay-Marks Syndrome 48 24 25 70
Sen Syndrome 48 24 25 70
Scalp Ear Nipple Syndrome 48 27
 
Sens 25 70
Hereditary Syndrome of Lumpy Scalp, Odd Ears, and Rudimentary Nipples 25
Hereditary Syndrome of Lumpy Scalp, Odd Ears and Rudimentary Nipples 48
Indian Childhood Cirrhosis 68

Characteristics:

HPO:

64
scalp-ear-nipple syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 181270
MedGen37 C1867020
MeSH39 D000015

Summaries for Scalp-Ear-Nipple Syndrome

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OMIM:52 Scalp-ear-nipple syndrome is characterized by aplasia cutis congenita of the scalp, breast anomalies that range from... (181270) more...

MalaCards based summary: Scalp-Ear-Nipple Syndrome, also known as finlay-marks syndrome, is related to alveolar capillary dysplasia with misalignment of pulmonary veins and transposition of the great arteries, and has symptoms including swelling of eyelid, swelling of eyelid and renal insufficiency. An important gene associated with Scalp-Ear-Nipple Syndrome is KCTD1 (Potassium Channel Tetramerization Domain Containing 1). Affiliated tissues include breast and skin.

Genetics Home Reference:25 Scalp-ear-nipple syndrome, as its name suggests, is a condition characterized by abnormalities of the scalp, ears, and nipples. Less frequently, affected individuals have problems affecting other parts of the body. The features of this disorder can vary even within the same family.

UniProtKB/Swiss-Prot:70 Scalp-ear-nipple syndrome: A disease 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.

Wikipedia:71 Scalp–ear–nipple syndrome (also known as \"Finlay–Marks syndrome\") is a condition... more...

Related Diseases for Scalp-Ear-Nipple Syndrome

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Graphical network of the top 20 diseases related to Scalp-Ear-Nipple Syndrome:



Diseases related to scalp-ear-nipple syndrome

Symptoms & Phenotypes for Scalp-Ear-Nipple Syndrome

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Symptoms by clinical synopsis from OMIM:

181270

Clinical features from OMIM:

181270

Human phenotypes related to Scalp-Ear-Nipple Syndrome:

 64 (show all 43)
id Description HPO Frequency HPO Source Accession
1 renal insufficiency64 HP:0000083
2 renal hypoplasia64 HP:0000089
3 renal agenesis64 HP:0000104
4 epicanthus64 HP:0000286
5 mandibular prognathia64 HP:0000303
6 low-set ears64 HP:0000369
7 cupped ear64 HP:0000378
8 small earlobe64 HP:0000385
9 protruding ear64 HP:0000411
10 anteverted nares64 HP:0000463
11 congenital cataract64 HP:0000519
12 blepharophimosis64 HP:0000581
13 hypotelorism64 HP:0000601
14 iris coloboma64 HP:0000612
15 abnormality of the thorax64 HP:0000765
16 abnormality of the endocrine system64 HP:0000818
17 hypertension64 HP:0000822
18 short columella64 HP:0002000
19 nail dysplasia64 HP:0002164
20 2-3 toe syndactyly64 HP:0004691
21 depressed nasal bridge64 HP:0005280
22 agenesis of permanent teeth64 HP:0006349
23 aplasia/hypoplasia of the nipples64 HP:0006709
24 sparse hair64 HP:0008070
25 microtia64 HP:0008551
26 underdeveloped antitragus64 HP:0011251
27 underdeveloped tragus64 HP:0011272
28 3-4 finger cutaneous syndactyly64 HP:0011939
29 pyelonephritis64 HP:0012330
30 palpebral edema64 HP:0100540
31 breast aplasia64 HP:0100783
32 recurrent urinary tract infections64 HP:0000010
33 ureteral duplication64 HP:0000073
34 telecanthus64 HP:0000506
35 cataract64 HP:0000518
36 cleft eyelid64 HP:0000625
37 delayed eruption of teeth64 HP:0000684
38 abnormality of the skin64 HP:0000951
39 hypohidrosis64 HP:0000966
40 abnormality of the fingernails64 HP:0001231
41 abnormality of the scalp64 HP:0001965
42 abnormality of the antihelix64 HP:0009738
43 type i diabetes mellitus64 HP:0100651

UMLS symptoms related to Scalp-Ear-Nipple Syndrome:


swelling of eyelid

Drugs & Therapeutics for Scalp-Ear-Nipple Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Scalp-Ear-Nipple Syndrome

Genetic Tests for Scalp-Ear-Nipple Syndrome

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Genetic tests related to Scalp-Ear-Nipple Syndrome:

id Genetic test Affiliating Genes
1 Scalp Ear Nipple Syndrome27
2 Scalp-Ear-Nipple Syndrome24

Anatomical Context for Scalp-Ear-Nipple Syndrome

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MalaCards organs/tissues related to Scalp-Ear-Nipple Syndrome:

36
Breast, Skin

Publications for Scalp-Ear-Nipple Syndrome

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Articles related to Scalp-Ear-Nipple Syndrome:

idTitleAuthorsYear
1
Scalp-ear-nipple syndrome: a case report. (24660003)
2014
2
Mutations in KCTD1 cause scalp-ear-nipple syndrome. (23541344)
2013
3
Hypotonia, developmental delay and features of scalp-ear-nipple syndrome in an inbred Arab family. (17351354)
2007
4
Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature. (15712197)
2005
5
Scalp-ear-nipple syndrome: additional manifestations. (8042668)
1994

Variations for Scalp-Ear-Nipple Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Scalp-Ear-Nipple Syndrome:

70
id Symbol AA change Variation ID SNP ID
1KCTD1p.Ala30GluVAR_069971rs587776998
2KCTD1p.Pro31LeuVAR_069972rs587776999
3KCTD1p.Pro31ArgVAR_069973rs587776999
4KCTD1p.Pro31SerVAR_069974
5KCTD1p.His33ProVAR_069975rs587777001
6KCTD1p.His33GlnVAR_069976rs587777000
7KCTD1p.Gly62AspVAR_069977rs587777003
8KCTD1p.His74ProVAR_069978rs587777002

Clinvar genetic disease variations for Scalp-Ear-Nipple Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KCTD1NM_ 001258221.1(KCTD1): c.207C> A (p.Asp69Glu)SNVPathogenicrs878853124GRCh37Chr 18, 24056581: 24056581
2KCTD1NM_ 001258221.1(KCTD1): c.58C> T (p.Pro20Ser)SNVPathogenicrs878853125GRCh37Chr 18, 24081142: 24081142
3KCTD1NM_ 001258221.1(KCTD1): c.89C> A (p.Ala30Glu)SNVPathogenicrs587776998GRCh37Chr 18, 24081111: 24081111
4KCTD1NM_ 001258221.1(KCTD1): c.92C> G (p.Pro31Arg)SNVPathogenicrs587776999GRCh37Chr 18, 24081108: 24081108
5KCTD1NM_ 001258221.1(KCTD1): c.92C> T (p.Pro31Leu)SNVPathogenicrs587776999GRCh37Chr 18, 24081108: 24081108
6KCTD1NM_ 001258221.1(KCTD1): c.92C> A (p.Pro31His)SNVPathogenicrs587776999GRCh37Chr 18, 24081108: 24081108
7KCTD1NM_ 001258221.1(KCTD1): c.99C> A (p.His33Gln)SNVPathogenicrs587777000GRCh37Chr 18, 24081101: 24081101
8KCTD1NM_ 001258221.1(KCTD1): c.98A> C (p.His33Pro)SNVPathogenicrs587777001GRCh37Chr 18, 24081102: 24081102
9KCTD1NM_ 001258221.1(KCTD1): c.221A> C (p.His74Pro)SNVPathogenicrs587777002GRCh37Chr 18, 24056567: 24056567
10KCTD1NM_ 001258221.1(KCTD1): c.185G> A (p.Gly62Asp)SNVPathogenicrs587777003GRCh37Chr 18, 24056603: 24056603

Expression for genes affiliated with Scalp-Ear-Nipple Syndrome

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Search GEO for disease gene expression data for Scalp-Ear-Nipple Syndrome.

Pathways for genes affiliated with Scalp-Ear-Nipple Syndrome

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GO Terms for genes affiliated with Scalp-Ear-Nipple Syndrome

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Sources for Scalp-Ear-Nipple Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet