MCID: SCL046
MIFTS: 32

Scalp-Ear-Nipple Syndrome

Categories: Genetic diseases, Rare diseases, Ear diseases

Aliases & Classifications for Scalp-Ear-Nipple Syndrome

MalaCards integrated aliases for Scalp-Ear-Nipple Syndrome:

Name: Scalp-Ear-Nipple Syndrome 54 50 24 25 71 69
Finlay-Marks Syndrome 50 24 25 71
Sen Syndrome 50 24 25 71
Scalp Ear Nipple Syndrome 50 29
Sens 25 71
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:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

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


Classifications:



Summaries for Scalp-Ear-Nipple Syndrome

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 2036disease definitionscalp-ear-nipple syndrome is characterised 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.visit the orphanet disease page for more resources. last updated: 10/9/2006

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 congenital cataract, recurrent urinary tract infections and low-set ears. An important gene associated with Scalp-Ear-Nipple Syndrome is KCTD1 (Potassium Channel Tetramerization Domain Containing 1). Affiliated tissues include skin and kidney.

UniProtKB/Swiss-Prot : 71 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.

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.

OMIM : 54
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). (181270)

Wikipedia : 72 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 via clinical synopsis from OMIM:

54

Head And Neck- Nose:
flat nasal bridge
anteverted nares (in some patients)

Genitourinary- Kidneys:
renal failure (in some patients)
renal agenesis (in some patients)
hypoplastic kidneys (in some patients)
pyelonephritis (in some patients)

Skin Nails & Hair- Nails:
dysplastic nails
brittle fingernails (in some patients)

Head And Neck- Face:
prognathism (in some patients)
short columella (in some patients)

Head And Neck- Head:
congenital denuded areas of the posterior scalp
raised, firm, hairless posterior scalp nodules

Chest- Breasts:
absent/rudimentary nipples (athelia/hypothelia)
breast aplasia
failure of breast enlargement and lactation with pregnancy

Skeletal- Skull:
normal skull x-rays (in some patients)
bony defect (in some patients)

Skeletal- Feet:
complete cutaneous syndactyly of second and third toes (in some patients)

Head And Neck- Ears:
low-set ears
dysplastic ears
hypoplastic ears
cupped ears
protruding ears
more
Head And Neck- Eyes:
hypotelorism (in some patients)
puffy eyelids
cataract, congenital (in some patients)
narrow palpebral fissures (in some patients)
epicanthus (in some patients)
more
Cardiovascular- Vascular:
hypertension (in some patients)

Skin Nails & Hair- Skin:
aplasia cutis congenita of the scalp
raised, firm, hairless posterior scalp nodules
reduced axillary apocrine secretion

Head And Neck- Teeth:
widely spaced/missing secondary teeth

Genitourinary- Ureters:
pyeloureteral duplication (in some patients)

Skeletal- Hands:
partial third and fourth finger syndactyly (in some patients)

Skin Nails & Hair- Hair:
reduced axillary hair and/or pubic hair
wooly hair (in some patients)
thin hair (in some patients)


Clinical features from OMIM:

181270

Human phenotypes related to Scalp-Ear-Nipple Syndrome:

32 (show all 44)
id Description HPO Frequency HPO Source Accession
1 congenital cataract 32 occasional (7.5%) HP:0000519
2 recurrent urinary tract infections 32 frequent (33%) HP:0000010
3 low-set ears 32 HP:0000369
4 depressed nasal bridge 32 HP:0005280
5 sparse hair 32 occasional (7.5%) HP:0008070
6 ureteral duplication 32 occasional (7.5%) HP:0000073
7 anteverted nares 32 occasional (7.5%) HP:0000463
8 renal insufficiency 32 occasional (7.5%) HP:0000083
9 iris coloboma 32 occasional (7.5%) HP:0000612
10 telecanthus 32 frequent (33%) HP:0000506
11 cataract 32 frequent (33%) HP:0000518
12 hypertension 32 occasional (7.5%) HP:0000822
13 renal agenesis 32 occasional (7.5%) HP:0000104
14 renal hypoplasia 32 occasional (7.5%) HP:0000089
15 short columella 32 occasional (7.5%) HP:0002000
16 hypotelorism 32 occasional (7.5%) HP:0000601
17 blepharophimosis 32 occasional (7.5%) HP:0000581
18 epicanthus 32 occasional (7.5%) HP:0000286
19 pyelonephritis 32 occasional (7.5%) HP:0012330
20 microtia 32 hallmark (90%) HP:0008551
21 hypohidrosis 32 occasional (7.5%) HP:0000966
22 nail dysplasia 32 HP:0002164
23 2-3 toe syndactyly 32 HP:0004691
24 delayed eruption of teeth 32 frequent (33%) HP:0000684
25 breast aplasia 32 hallmark (90%) HP:0100783
26 duplication of renal pelvis 32 occasional (7.5%) HP:0005580
27 palpebral edema 32 frequent (33%) HP:0100540
28 cleft eyelid 32 occasional (7.5%) HP:0000625
29 mandibular prognathia 32 occasional (7.5%) HP:0000303
30 type i diabetes mellitus 32 frequent (33%) HP:0100651
31 abnormality of the thorax 32 HP:0000765
32 aplasia/hypoplasia of the nipples 32 hallmark (90%) HP:0006709
33 abnormality of the fingernails 32 frequent (33%) HP:0001231
34 protruding ear 32 HP:0000411
35 abnormality of the endocrine system 32 HP:0000818
36 abnormality of the antihelix 32 hallmark (90%) HP:0009738
37 small earlobe 32 hallmark (90%) HP:0000385
38 abnormality of the skin 32 hallmark (90%) HP:0000951
39 cupped ear 32 HP:0000378
40 agenesis of permanent teeth 32 HP:0006349
41 underdeveloped tragus 32 hallmark (90%) HP:0011272
42 underdeveloped antitragus 32 hallmark (90%) HP:0011251
43 3-4 finger cutaneous syndactyly 32 HP:0011939
44 abnormality of the scalp 32 hallmark (90%) 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
Skin, Kidney

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:

71
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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