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

Aliases & Descriptions for Scalp-Ear-Nipple Syndrome:

Name: Scalp-Ear-Nipple Syndrome 54 50 24 25 66 69
Finlay-Marks Syndrome 50 24 25 66
Sen Syndrome 50 24 25 66
Scalp Ear Nipple Syndrome 50 29
Sens 25 66
Hereditary Syndrome of Lumpy Scalp, Odd Ears, and Rudimentary Nipples 25
Hereditary Syndrome of Lumpy Scalp, Odd Ears and Rudimentary Nipples 50
Indian Childhood Cirrhosis 69

Characteristics:

HPO:

32
scalp-ear-nipple syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 181270
MedGen 40 C1867020
MeSH 42 D000015

Summaries for Scalp-Ear-Nipple Syndrome

OMIM : 54 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 low-set ears, hypertension and mandibular prognathia. 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 : 66 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

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

Symptoms by clinical synopsis from OMIM:

181270

Clinical features from OMIM:

181270

Human phenotypes related to Scalp-Ear-Nipple Syndrome:

32 (show all 43)
id Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 hypertension 32 HP:0000822
3 mandibular prognathia 32 HP:0000303
4 cataract 32 HP:0000518
5 depressed nasal bridge 32 HP:0005280
6 microtia 32 HP:0008551
7 anteverted nares 32 HP:0000463
8 renal insufficiency 32 HP:0000083
9 type i diabetes mellitus 32 HP:0100651
10 delayed eruption of teeth 32 HP:0000684
11 epicanthus 32 HP:0000286
12 abnormality of the thorax 32 HP:0000765
13 hypohidrosis 32 HP:0000966
14 aplasia/hypoplasia of the nipples 32 HP:0006709
15 abnormality of the fingernails 32 HP:0001231
16 protruding ear 32 HP:0000411
17 palpebral edema 32 HP:0100540
18 telecanthus 32 HP:0000506
19 abnormality of the endocrine system 32 HP:0000818
20 abnormality of the antihelix 32 HP:0009738
21 small earlobe 32 HP:0000385
22 renal hypoplasia 32 HP:0000089
23 recurrent urinary tract infections 32 HP:0000010
24 blepharophimosis 32 HP:0000581
25 hypotelorism 32 HP:0000601
26 iris coloboma 32 HP:0000612
27 sparse hair 32 HP:0008070
28 ureteral duplication 32 HP:0000073
29 nail dysplasia 32 HP:0002164
30 cleft eyelid 32 HP:0000625
31 abnormality of the skin 32 HP:0000951
32 cupped ear 32 HP:0000378
33 short columella 32 HP:0002000
34 renal agenesis 32 HP:0000104
35 breast aplasia 32 HP:0100783
36 2-3 toe syndactyly 32 HP:0004691
37 congenital cataract 32 HP:0000519
38 agenesis of permanent teeth 32 HP:0006349
39 underdeveloped tragus 32 HP:0011272
40 underdeveloped antitragus 32 HP:0011251
41 3-4 finger cutaneous syndactyly 32 HP:0011939
42 pyelonephritis 32 HP:0012330
43 abnormality of the scalp 32 HP:0001965

UMLS symptoms related to Scalp-Ear-Nipple Syndrome:


swelling of eyelid

Drugs & Therapeutics for Scalp-Ear-Nipple Syndrome

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

Genetic Tests for Scalp-Ear-Nipple Syndrome

Genetic tests related to Scalp-Ear-Nipple Syndrome:

id Genetic test Affiliating Genes
1 Scalp Ear Nipple Syndrome 29
2 Scalp-Ear-Nipple Syndrome 24

Anatomical Context for Scalp-Ear-Nipple Syndrome

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

39
Breast, Skin

Publications for Scalp-Ear-Nipple Syndrome

Articles related to Scalp-Ear-Nipple Syndrome:

id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 KCTD1 p.Ala30Glu VAR_069971 rs587776998
2 KCTD1 p.Pro31Leu VAR_069972 rs587776999
3 KCTD1 p.Pro31Arg VAR_069973 rs587776999
4 KCTD1 p.Pro31Ser VAR_069974
5 KCTD1 p.His33Pro VAR_069975 rs587777001
6 KCTD1 p.His33Gln VAR_069976 rs587777000
7 KCTD1 p.Gly62Asp VAR_069977 rs587777003
8 KCTD1 p.His74Pro VAR_069978 rs587777002

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KCTD1 NM_001258221.1(KCTD1): c.89C> A (p.Ala30Glu) single nucleotide variant Pathogenic rs587776998 GRCh37 Chromosome 18, 24081111: 24081111
2 KCTD1 NM_001258221.1(KCTD1): c.92C> G (p.Pro31Arg) single nucleotide variant Pathogenic rs587776999 GRCh37 Chromosome 18, 24081108: 24081108
3 KCTD1 NM_001258221.1(KCTD1): c.92C> T (p.Pro31Leu) single nucleotide variant Pathogenic rs587776999 GRCh37 Chromosome 18, 24081108: 24081108
4 KCTD1 NM_001258221.1(KCTD1): c.92C> A (p.Pro31His) single nucleotide variant Pathogenic rs587776999 GRCh37 Chromosome 18, 24081108: 24081108
5 KCTD1 NM_001258221.1(KCTD1): c.99C> A (p.His33Gln) single nucleotide variant Pathogenic rs587777000 GRCh37 Chromosome 18, 24081101: 24081101
6 KCTD1 NM_001258221.1(KCTD1): c.98A> C (p.His33Pro) single nucleotide variant Pathogenic rs587777001 GRCh37 Chromosome 18, 24081102: 24081102
7 KCTD1 NM_001258221.1(KCTD1): c.221A> C (p.His74Pro) single nucleotide variant Pathogenic rs587777002 GRCh37 Chromosome 18, 24056567: 24056567
8 KCTD1 NM_001258221.1(KCTD1): c.185G> A (p.Gly62Asp) single nucleotide variant Pathogenic rs587777003 GRCh37 Chromosome 18, 24056603: 24056603
9 KCTD1 NM_001258221.1(KCTD1): c.207C> A (p.Asp69Glu) single nucleotide variant Pathogenic rs878853124 GRCh37 Chromosome 18, 24056581: 24056581
10 KCTD1 NM_001258221.1(KCTD1): c.58C> T (p.Pro20Ser) single nucleotide variant Pathogenic rs878853125 GRCh37 Chromosome 18, 24081142: 24081142

Expression for Scalp-Ear-Nipple Syndrome

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

Pathways for Scalp-Ear-Nipple Syndrome

GO Terms for Scalp-Ear-Nipple Syndrome

Sources for Scalp-Ear-Nipple Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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