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 57 53 25 75 73
Scalp Ear Nipple Syndrome 53 29 6 40
Finlay-Marks Syndrome 57 53 25 75
Sen Syndrome 57 53 25 75
Sens 57 25 75
Hereditary Syndrome of Lumpy Scalp, Odd Ears, and Rudimentary Nipples 25
Hereditary Syndrome of Lumpy Scalp, Odd Ears and Rudimentary Nipples 53
Indian Childhood Cirrhosis 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

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


Classifications:



Summaries for Scalp-Ear-Nipple Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Scalp-Ear-Nipple Syndrome, also known as scalp ear nipple 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 An important gene associated with Scalp-Ear-Nipple Syndrome is KCTD1 (Potassium Channel Tetramerization Domain Containing 1). Affiliated tissues include skin and kidney, and related phenotypes are low-set ears and hypertension

OMIM : 57 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 : 75 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.

Wikipedia : 76 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:

57
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:

32 (show all 47)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 hypertension 32 occasional (7.5%) HP:0000822
3 mandibular prognathia 32 occasional (7.5%) HP:0000303
4 cataract 32 frequent (33%) HP:0000518
5 depressed nasal bridge 32 HP:0005280
6 microtia 32 hallmark (90%) HP:0008551
7 anteverted nares 32 occasional (7.5%) HP:0000463
8 renal insufficiency 32 occasional (7.5%) HP:0000083
9 type i diabetes mellitus 32 frequent (33%) HP:0100651
10 abnormality of the nail 32 HP:0001597
11 delayed eruption of teeth 32 frequent (33%) HP:0000684
12 epicanthus 32 occasional (7.5%) HP:0000286
13 abnormality of the thorax 32 HP:0000765
14 hypohidrosis 32 occasional (7.5%) HP:0000966
15 aplasia/hypoplasia of the nipples 32 hallmark (90%) HP:0006709
16 abnormality of the fingernails 32 frequent (33%) HP:0001231
17 protruding ear 32 HP:0000411
18 palpebral edema 32 frequent (33%) HP:0100540
19 telecanthus 32 frequent (33%) HP:0000506
20 abnormality of the endocrine system 32 HP:0000818
21 abnormality of the antihelix 32 hallmark (90%) HP:0009738
22 small earlobe 32 hallmark (90%) HP:0000385
23 renal hypoplasia 32 occasional (7.5%) HP:0000089
24 fine hair 32 occasional (7.5%) HP:0002213
25 recurrent urinary tract infections 32 frequent (33%) HP:0000010
26 blepharophimosis 32 occasional (7.5%) HP:0000581
27 nail dysplasia 32 HP:0002164
28 hypotelorism 32 occasional (7.5%) HP:0000601
29 iris coloboma 32 occasional (7.5%) HP:0000612
30 abnormality of the hair 32 HP:0001595
31 sparse hair 32 occasional (7.5%) HP:0008070
32 ureteral duplication 32 occasional (7.5%) HP:0000073
33 abnormality of the skin 32 hallmark (90%) HP:0000951
34 cupped ear 32 HP:0000378
35 short columella 32 occasional (7.5%) HP:0002000
36 renal agenesis 32 occasional (7.5%) HP:0000104
37 breast aplasia 32 hallmark (90%) HP:0100783
38 2-3 toe syndactyly 32 HP:0004691
39 congenital cataract 32 occasional (7.5%) HP:0000519
40 agenesis of permanent teeth 32 HP:0006349
41 3-4 finger cutaneous syndactyly 32 HP:0011939
42 underdeveloped tragus 32 hallmark (90%) HP:0011272
43 eyelid coloboma 32 occasional (7.5%) HP:0000625
44 pyelonephritis 32 occasional (7.5%) HP:0012330
45 duplication of renal pelvis 32 occasional (7.5%) HP:0005580
46 underdeveloped antitragus 32 hallmark (90%) HP:0011251
47 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:

# Genetic test Affiliating Genes
1 Scalp Ear Nipple Syndrome 29 KCTD1

Anatomical Context for Scalp-Ear-Nipple Syndrome

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

41
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:

75
# 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
(show all 20)
# 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.89C> A (p.Ala30Glu) single nucleotide variant Pathogenic rs587776998 GRCh38 Chromosome 18, 26501147: 26501147
3 KCTD1 NM_001258221.1(KCTD1): c.92C> G (p.Pro31Arg) single nucleotide variant Pathogenic rs587776999 GRCh37 Chromosome 18, 24081108: 24081108
4 KCTD1 NM_001258221.1(KCTD1): c.92C> G (p.Pro31Arg) single nucleotide variant Pathogenic rs587776999 GRCh38 Chromosome 18, 26501144: 26501144
5 KCTD1 NM_001258221.1(KCTD1): c.92C> T (p.Pro31Leu) single nucleotide variant Pathogenic rs587776999 GRCh37 Chromosome 18, 24081108: 24081108
6 KCTD1 NM_001258221.1(KCTD1): c.92C> T (p.Pro31Leu) single nucleotide variant Pathogenic rs587776999 GRCh38 Chromosome 18, 26501144: 26501144
7 KCTD1 NM_001258221.1(KCTD1): c.92C> A (p.Pro31His) single nucleotide variant Pathogenic rs587776999 GRCh37 Chromosome 18, 24081108: 24081108
8 KCTD1 NM_001258221.1(KCTD1): c.92C> A (p.Pro31His) single nucleotide variant Pathogenic rs587776999 GRCh38 Chromosome 18, 26501144: 26501144
9 KCTD1 NM_001258221.1(KCTD1): c.99C> A (p.His33Gln) single nucleotide variant Pathogenic rs587777000 GRCh37 Chromosome 18, 24081101: 24081101
10 KCTD1 NM_001258221.1(KCTD1): c.99C> A (p.His33Gln) single nucleotide variant Pathogenic rs587777000 GRCh38 Chromosome 18, 26501137: 26501137
11 KCTD1 NM_001258221.1(KCTD1): c.98A> C (p.His33Pro) single nucleotide variant Pathogenic rs587777001 GRCh37 Chromosome 18, 24081102: 24081102
12 KCTD1 NM_001258221.1(KCTD1): c.98A> C (p.His33Pro) single nucleotide variant Pathogenic rs587777001 GRCh38 Chromosome 18, 26501138: 26501138
13 KCTD1 NM_001258221.1(KCTD1): c.221A> C (p.His74Pro) single nucleotide variant Pathogenic rs587777002 GRCh37 Chromosome 18, 24056567: 24056567
14 KCTD1 NM_001258221.1(KCTD1): c.221A> C (p.His74Pro) single nucleotide variant Pathogenic rs587777002 GRCh38 Chromosome 18, 26476603: 26476603
15 KCTD1 NM_001258221.1(KCTD1): c.185G> A (p.Gly62Asp) single nucleotide variant Pathogenic rs587777003 GRCh37 Chromosome 18, 24056603: 24056603
16 KCTD1 NM_001258221.1(KCTD1): c.185G> A (p.Gly62Asp) single nucleotide variant Pathogenic rs587777003 GRCh38 Chromosome 18, 26476639: 26476639
17 KCTD1 NM_001258221.1(KCTD1): c.207C> A (p.Asp69Glu) single nucleotide variant Pathogenic rs878853124 GRCh37 Chromosome 18, 24056581: 24056581
18 KCTD1 NM_001258221.1(KCTD1): c.207C> A (p.Asp69Glu) single nucleotide variant Pathogenic rs878853124 GRCh38 Chromosome 18, 26476617: 26476617
19 KCTD1 NM_001258221.1(KCTD1): c.58C> T (p.Pro20Ser) single nucleotide variant Pathogenic rs878853125 GRCh37 Chromosome 18, 24081142: 24081142
20 KCTD1 NM_001258221.1(KCTD1): c.58C> T (p.Pro20Ser) single nucleotide variant Pathogenic rs878853125 GRCh38 Chromosome 18, 26501178: 26501178

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
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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