MCID: SCL046
MIFTS: 34

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 53 49 24 71 69
Finlay-Marks Syndrome 53 49 24 71
Sen Syndrome 53 49 24 71
Sens 53 24 71
Scalp Ear Nipple Syndrome 49 28
Hereditary Syndrome of Lumpy Scalp, Odd Ears, and Rudimentary Nipples 24
Hereditary Syndrome of Lumpy Scalp, Odd Ears and Rudimentary Nipples 49
Indian Childhood Cirrhosis 69

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
scalp-ear-nipple syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Scalp-Ear-Nipple Syndrome

NIH Rare Diseases : 49 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 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 skin and kidney.

Genetics Home Reference : 24 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 : 53 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)

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.

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:

53
Head And Neck Ears:
low-set ears
dysplastic ears
protruding ears
hypoplastic ears
cupped ears
more
Skin Nails Hair Nails:
dysplastic nails
brittle fingernails (in some patients)

Head And Neck Eyes:
puffy eyelids
hypotelorism (in some patients)
narrow palpebral fissures (in some patients)
epicanthus (in some patients)
cataract, congenital (in some patients)
more
Head And Neck Head:
congenital denuded areas of the posterior scalp
raised, firm, hairless posterior scalp nodules

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

Cardiovascular Vascular:
hypertension (in some patients)

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)

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

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 Skin:
raised, firm, hairless posterior scalp nodules
aplasia cutis congenita of the scalp
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:

31 (show all 45)
# Description HPO Frequency HPO Source Accession
1 low-set ears 31 HP:0000369
2 hypertension 31 occasional (7.5%) HP:0000822
3 mandibular prognathia 31 occasional (7.5%) HP:0000303
4 cataract 31 frequent (33%) HP:0000518
5 depressed nasal bridge 31 HP:0005280
6 microtia 31 hallmark (90%) HP:0008551
7 anteverted nares 31 occasional (7.5%) HP:0000463
8 renal insufficiency 31 occasional (7.5%) HP:0000083
9 type i diabetes mellitus 31 frequent (33%) HP:0100651
10 delayed eruption of teeth 31 frequent (33%) HP:0000684
11 epicanthus 31 occasional (7.5%) HP:0000286
12 abnormality of the thorax 31 HP:0000765
13 hypohidrosis 31 occasional (7.5%) HP:0000966
14 aplasia/hypoplasia of the nipples 31 hallmark (90%) HP:0006709
15 abnormality of the fingernails 31 frequent (33%) HP:0001231
16 protruding ear 31 HP:0000411
17 palpebral edema 31 frequent (33%) HP:0100540
18 telecanthus 31 frequent (33%) HP:0000506
19 abnormality of the endocrine system 31 HP:0000818
20 abnormality of the antihelix 31 hallmark (90%) HP:0009738
21 small earlobe 31 hallmark (90%) HP:0000385
22 renal hypoplasia 31 occasional (7.5%) HP:0000089
23 fine hair 31 occasional (7.5%) HP:0002213
24 recurrent urinary tract infections 31 frequent (33%) HP:0000010
25 blepharophimosis 31 occasional (7.5%) HP:0000581
26 nail dysplasia 31 HP:0002164
27 hypotelorism 31 occasional (7.5%) HP:0000601
28 iris coloboma 31 occasional (7.5%) HP:0000612
29 sparse hair 31 occasional (7.5%) HP:0008070
30 ureteral duplication 31 occasional (7.5%) HP:0000073
31 abnormality of the skin 31 hallmark (90%) HP:0000951
32 cupped ear 31 HP:0000378
33 short columella 31 occasional (7.5%) HP:0002000
34 renal agenesis 31 occasional (7.5%) HP:0000104
35 breast aplasia 31 hallmark (90%) HP:0100783
36 2-3 toe syndactyly 31 HP:0004691
37 congenital cataract 31 occasional (7.5%) HP:0000519
38 agenesis of permanent teeth 31 HP:0006349
39 3-4 finger cutaneous syndactyly 31 HP:0011939
40 underdeveloped tragus 31 hallmark (90%) HP:0011272
41 eyelid coloboma 31 occasional (7.5%) HP:0000625
42 pyelonephritis 31 occasional (7.5%) HP:0012330
43 duplication of renal pelvis 31 occasional (7.5%) HP:0005580
44 underdeveloped antitragus 31 hallmark (90%) HP:0011251
45 abnormality of the scalp 31 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:

# Genetic test Affiliating Genes
1 Scalp Ear Nipple Syndrome 28 KCTD1

Anatomical Context for Scalp-Ear-Nipple Syndrome

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

38
Skin, Kidney

Publications for Scalp-Ear-Nipple Syndrome

Articles related to Scalp-Ear-Nipple Syndrome:

# 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
# 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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