MCID: SCL046
MIFTS: 28

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

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 aplasia/hypoplasia of the nipples, abnormality of the antihelix and abnormality of the antitragus. An important gene associated with Scalp-Ear-Nipple Syndrome is KCTD1 (Potassium Channel Tetramerization Domain Containing 1). Affiliated tissues include kidney.

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 associated with... 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 46)
id Description HPO Frequency HPO Source Accession
1 aplasia/hypoplasia of the nipples64 hallmark (90%) HP:0006709
2 abnormality of the antihelix64 hallmark (90%) HP:0009738
3 abnormality of the antitragus64 hallmark (90%) HP:0009896
4 aplasia/hypoplasia of the earlobes64 hallmark (90%) HP:0009906
5 abnormality of the tragus64 hallmark (90%) HP:0009912
6 abnormal hair quantity64 hallmark (90%) HP:0011362
7 recurrent urinary tract infections64 typical (50%) HP:0000010
8 telecanthus64 typical (50%) HP:0000506
9 cataract64 typical (50%) HP:0000518
10 delayed eruption of teeth64 typical (50%) HP:0000684
11 hypertension64 typical (50%) HP:0000822
12 abnormality of the fingernails64 typical (50%) HP:0001231
13 type i diabetes mellitus64 typical (50%) HP:0100651
14 abnormality of the ureter64 occasional (7.5%) HP:0000069
15 abnormality of the kidney64 occasional (7.5%) HP:0000077
16 cleft eyelid64 occasional (7.5%) HP:0000625
17 hypohidrosis64 occasional (7.5%) HP:0000966
18 renal insufficiency64 rare (5%) HP:0000083
19 renal hypoplasia64 rare (5%) HP:0000089
20 renal agenesis64 rare (5%) HP:0000104
21 epicanthus64 rare (5%) HP:0000286
22 mandibular prognathia64 rare (5%) HP:0000303
23 anteverted nares64 rare (5%) HP:0000463
24 congenital cataract64 rare (5%) HP:0000519
25 blepharophimosis64 rare (5%) HP:0000581
26 hypotelorism64 rare (5%) HP:0000601
27 iris coloboma64 rare (5%) HP:0000612
28 short columella64 rare (5%) HP:0002000
29 sparse hair64 rare (5%) HP:0008070
30 pyelonephritis64 rare (5%) HP:0012330
31 low-set ears64 HP:0000369
32 cupped ear64 HP:0000378
33 small earlobe64 HP:0000385
34 protruding ear64 HP:0000411
35 abnormality of the thorax64 HP:0000765
36 abnormality of the endocrine system64 HP:0000818
37 nail dysplasia64 HP:0002164
38 2-3 toe syndactyly64 HP:0004691
39 depressed nasal bridge64 HP:0005280
40 agenesis of permanent teeth64 HP:0006349
41 microtia64 HP:0008551
42 underdeveloped antitragus64 HP:0011251
43 underdeveloped tragus64 HP:0011272
44 3-4 finger cutaneous syndactyly64 HP:0011939
45 palpebral edema64 HP:0100540
46 breast aplasia64 HP:0100783

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
Kidney

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)SNVPathogenicrs878853124GRCh38Chr 18, 26476617: 26476617
2KCTD1NM_001258221.1(KCTD1): c.58C> T (p.Pro20Ser)SNVPathogenicrs878853125GRCh38Chr 18, 26501178: 26501178
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