SENS
MCID: SCL046
MIFTS: 49

Scalp-Ear-Nipple Syndrome (SENS)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Scalp-Ear-Nipple Syndrome

MalaCards integrated aliases for Scalp-Ear-Nipple Syndrome:

Name: Scalp-Ear-Nipple Syndrome 57 12 73 20 43 58 72 29 6 15 70
Finlay-Marks Syndrome 57 12 20 43 58 72
Sen Syndrome 57 12 20 43 72
Sens 57 12 43 72
Scalp Ear Nipple Syndrome 20 44 39
Hereditary Syndrome of Lumpy Scalp, Odd Ears and Rudimentary Nipples 12 20
Hereditary Syndrome of Lumpy Scalp, Odd Ears, and Rudimentary Nipples 43
Indian Childhood Cirrhosis 70

Characteristics:

Orphanet epidemiological data:

58
scalp-ear-nipple syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

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


Classifications:

Orphanet: 58  
Rare eye diseases
Rare gynaecological and obstetric diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Scalp-Ear-Nipple Syndrome

MedlinePlus Genetics : 43 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.Babies with scalp-ear-nipple syndrome are born with a condition called aplasia cutis congenita, which involves patchy abnormal areas (lesions) on the scalp. These lesions are firm, raised, hairless nodules that resemble open wounds or ulcers at birth, but that heal during childhood.The external ears of people with scalp-ear-nipple syndrome may be small, cup-shaped, folded over, or otherwise mildly misshapen. Hearing is generally normal. Affected individuals also have nipples that are underdeveloped (hypothelia) or absent (athelia). In some cases the underlying breast tissue is absent as well (amastia).Other features that can occur in this disorder include malformed and brittle fingernails and toenails (nail dystrophy), dental abnormalities including widely-spaced or missing teeth, fusion of the skin between some of the fingers and toes (cutaneous syndactyly), and kidney defects such as underdevelopment (hypoplasia) of one or both kidneys. Unusual facial features, including narrowed openings of the eyes (narrowed palpebral fissures), an increased distance between the inner corners of the eyes (telecanthus), a flat bridge of the nose, and nostrils that open to the front rather than downward (anteverted nares), can also occur in this disorder.

MalaCards based summary : Scalp-Ear-Nipple Syndrome, also known as finlay-marks syndrome, is related to chromosome 2q35 duplication syndrome and lissencephaly with cerebellar hypoplasia, and has symptoms including swelling of eyelid An important gene associated with Scalp-Ear-Nipple Syndrome is KCTD1 (Potassium Channel Tetramerization Domain Containing 1), and among its related pathways/superpathways is Nanoparticle triggered autophagic cell death. The drugs Clopidogrel and Cilostazol have been mentioned in the context of this disorder. Affiliated tissues include eye, breast and liver, and related phenotypes are microtia and aplasia/hypoplasia of the nipples

Disease Ontology : 12 An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has material basis in heterozygous mutation in KCTD1 on chromosome 18q11.2.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2036 Definition A rare syndrome 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. Renal and urinary tract abnormalities, as well as cataract, have also been observed.

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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 Scalp-ear-nipple syndrome (also known as "Finlay-Marks syndrome") is a condition associated with aplasia... more...

Related Diseases for Scalp-Ear-Nipple Syndrome

Diseases related to Scalp-Ear-Nipple Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 chromosome 2q35 duplication syndrome 10.3
2 lissencephaly with cerebellar hypoplasia 10.3 TSC2 TSC1
3 uterus perivascular epithelioid cell tumor 10.3 TSC2 TSC1
4 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.3 TSC2 TSC1
5 heart cancer 10.3 TSC2 TSC1
6 aplasia cutis congenita, nonsyndromic 10.3
7 hyperinsulinemic hypoglycemia, familial, 4 10.3 LGALS4 ELAVL4 ELAVL2
8 kidney angiomyolipoma 10.2 TSC2 TSC1
9 atrial septal defect 1 10.2 ELAVL4 ELAVL3 ELAVL2
10 subependymal glioma 10.2 TSC2 TSC1
11 perivascular tumor 10.2 TSC2 TSC1
12 pontocerebellar hypoplasia, type 7 10.2 ELAVL4 ELAVL3
13 allergic asthma 10.2
14 wilson-turner x-linked mental retardation syndrome 10.2 NOTCH1 LGALS4 CSF2RA
15 pervasive developmental disorder 10.1 TSC2 TSC1 MIR9-1
16 cone-rod dystrophy 6 10.1 LGALS4 ELAVL4 ELAVL3 ELAVL2
17 renal hypoplasia 10.1
18 ectodermal dysplasia 10.1
19 absent breasts and nipples 10.1
20 aortic disease 10.1 TSC2 TSC1 NOTCH1
21 fragile x syndrome 10.1 TSC2 TSC1 MIR9-1 ELAVL4
22 branchiooculofacial syndrome 10.1
23 breasts and/or nipples, aplasia or hypoplasia of, 1 10.1
24 ear malformation 10.1
25 char syndrome 10.1
26 adams-oliver syndrome 10.1
27 hypotonia 10.1
28 asthma 10.1
29 benign ependymoma 10.1 TSC2 TSC1
30 aging 10.0
31 allergic rhinitis 10.0
32 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
33 peanut allergy 10.0
34 rhinitis 10.0
35 pathologic nystagmus 10.0
36 kidney benign neoplasm 10.0 TSC2 TSC1
37 retinitis pigmentosa 49 9.9 LGALS4 ELAVL4 ELAVL3 ELAVL2 ELAVL1 CSF2RA
38 hair whorl 9.9
39 polykaryocytosis inducer 9.9
40 rheumatoid arthritis 9.9
41 acute cystitis 9.9
42 food allergy 9.9
43 vestibular disease 9.9
44 wheat allergy 9.9
45 hyperglycemia 9.9
46 milk allergy 9.9
47 osteoarthritis 9.9
48 autonomic dysfunction 9.9
49 medulloblastoma 9.8 TSC2 NOTCH1 MIR9-1 GFI1 ELAVL2
50 retinitis pigmentosa 9.4 TSC1 NXNL2 NOTCH1 LGALS4 ELAVL4 ELAVL3

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

Human phenotypes related to Scalp-Ear-Nipple Syndrome:

58 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
2 aplasia/hypoplasia of the nipples 58 31 hallmark (90%) Very frequent (99-80%) HP:0006709
3 small earlobe 58 31 hallmark (90%) Very frequent (99-80%) HP:0000385
4 abnormality of the antihelix 58 31 hallmark (90%) Very frequent (99-80%) HP:0009738
5 sparse hair 58 31 occasional (7.5%) Very frequent (99-80%) HP:0008070
6 abnormality of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000951
7 breast aplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100783
8 underdeveloped antitragus 58 31 hallmark (90%) Very frequent (99-80%) HP:0011251
9 underdeveloped tragus 58 31 hallmark (90%) Very frequent (99-80%) HP:0011272
10 abnormal scalp morphology 31 hallmark (90%) HP:0001965
11 hypertension 58 31 occasional (7.5%) Frequent (79-30%) HP:0000822
12 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
13 type i diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0100651
14 abnormal fingernail morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001231
15 palpebral edema 58 31 frequent (33%) Frequent (79-30%) HP:0100540
16 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
17 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
18 recurrent urinary tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0000010
19 hypohidrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000966
20 ureteral duplication 58 31 occasional (7.5%) Occasional (29-5%) HP:0000073
21 duplication of renal pelvis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005580
22 pyelonephritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012330
23 mandibular prognathia 31 occasional (7.5%) HP:0000303
24 anteverted nares 31 occasional (7.5%) HP:0000463
25 renal insufficiency 31 occasional (7.5%) HP:0000083
26 epicanthus 31 occasional (7.5%) HP:0000286
27 iris coloboma 31 occasional (7.5%) HP:0000612
28 fine hair 31 occasional (7.5%) HP:0002213
29 renal hypoplasia 31 occasional (7.5%) HP:0000089
30 blepharophimosis 31 occasional (7.5%) HP:0000581
31 hypotelorism 31 occasional (7.5%) HP:0000601
32 short columella 31 occasional (7.5%) HP:0002000
33 renal agenesis 31 occasional (7.5%) HP:0000104
34 developmental cataract 31 occasional (7.5%) HP:0000519
35 eyelid coloboma 31 occasional (7.5%) HP:0000625
36 narrow palpebral fissure 31 very rare (1%) HP:0045025
37 depressed nasal bridge 31 HP:0005280
38 abnormality of the dentition 58 Frequent (79-30%)
39 abnormality of the nail 31 HP:0001597
40 low-set ears 31 HP:0000369
41 cleft eyelid 58 Occasional (29-5%)
42 protruding ear 31 HP:0000411
43 abnormality of the kidney 58 Occasional (29-5%)
44 abnormality of the endocrine system 31 HP:0000818
45 nail dysplasia 31 HP:0002164
46 cupped ear 31 HP:0000378
47 aplasia cutis congenita 31 HP:0001057
48 2-3 toe syndactyly 31 HP:0004691
49 abnormality of the scalp 58 Very frequent (99-80%)
50 agenesis of permanent teeth 31 HP:0006349

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

UMLS symptoms related to Scalp-Ear-Nipple Syndrome:


swelling of eyelid

Drugs & Therapeutics for Scalp-Ear-Nipple Syndrome

Drugs for Scalp-Ear-Nipple Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 71)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
2
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
3
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
4
Iodine Approved, Investigational Phase 3 7553-56-2 807
5
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
6
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
7
Granisetron Approved, Investigational Phase 3 109889-09-0 3510
8
Aprepitant Approved, Investigational Phase 3 170729-80-3 151165 6918365
9
Palonosetron Approved, Investigational Phase 3 119904-90-4, 135729-56-5 148211
10
Cadexomer iodine Experimental Phase 3 94820-09-4
11 Gastrointestinal Agents Phase 3
12 Antiemetics Phase 3
13 Hormone Antagonists Phase 3
14 glucocorticoids Phase 3
15 Hormones Phase 3
16 Antineoplastic Agents, Hormonal Phase 3
17 Anti-Inflammatory Agents Phase 3
18 Anti-Bacterial Agents Phase 3
19 Antibiotics, Antitubercular Phase 3
20 neurokinin A Phase 3
21 Neurokinin-1 Receptor Antagonists Phase 3
22 Neurotransmitter Agents Phase 3
23 Serotonin 5-HT3 Receptor Antagonists Phase 3
24
Substance P Phase 3 33507-63-0 44359816
25 Emetics Phase 3
26
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
27
Vinorelbine Approved, Investigational Phase 2 71486-22-1 60780 44424639
28
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
29
Capecitabine Approved, Investigational Phase 2 154361-50-9 60953
30
Lapatinib Approved, Investigational Phase 2 231277-92-2, 388082-78-8 208908 9941095
31
Pomalidomide Approved Phase 1, Phase 2 19171-19-8
32
Thalidomide Approved, Investigational, Withdrawn Phase 1, Phase 2 50-35-1 5426
33
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
34
Bevacizumab Approved, Investigational Phase 2 216974-75-3
35
Fisetin Experimental Phase 2 528-48-3
36
Quercetin Experimental, Investigational Phase 2 117-39-5 5280343
37
Chlorotrianisene Investigational, Withdrawn Phase 2 569-57-3 11289
38 Tubulin Modulators Phase 2
39 Antimitotic Agents Phase 2
40 Antimetabolites Phase 2
41 Reishi Phase 2
42 Protein Kinase Inhibitors Phase 2
43 Angiogenesis Inhibitors Phase 1, Phase 2
44 Immunologic Factors Phase 1, Phase 2
45 Immunosuppressive Agents Phase 1, Phase 2
46 Alkylating Agents Phase 1, Phase 2
47
protease inhibitors Phase 1, Phase 2
48 Bendamustine Hydrochloride Phase 1, Phase 2
49 BB 1101 Phase 1, Phase 2
50 Anti-Infective Agents Phase 1, Phase 2

Interventional clinical trials:

(show all 36)
# Name Status NCT ID Phase Drugs
1 Efficacy of Self-Expanding Nitinol S.M.A.R.T CONTROLTM Stent Versus Life Stent For The Atherosclerotic Femoro-Popliteal Arterial Disease : Prospective, Multicenter, Randomized, Controlled Trial (SENS-FP-2 Trial) Unknown status NCT01653600 Phase 4
2 "5010 Clinical Research Programme"of Sun Yat-sen University Unknown status NCT01204359 Phase 3
3 Sun Yat-sen University Cancer Center Completed NCT03674294 Phase 3 Aprepitant;Palonosetron;Dexamethasone;Placebo Oral Tablet
4 A Two-part, Randomized, Double-blind, Placebo-controlled, Parallel-group, Efficacy and Safety Study of SENS-401 in Subjects With Severe or Profound Sudden Sensorineural Hearing Loss Recruiting NCT03603314 Phase 2, Phase 3 SENS-401;SENS-401
5 A Multicenter, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy and Safety of 2 Dose Regimens of Orally Administered SENS-111 (100 mg and 200 mg) Given During 4 Days in Patients Suffering From Acute Unilateral Vestibulopathy Completed NCT03110458 Phase 2 SENS-111 100mg;SENS-111 200mg;Placebo Oral Tablet
6 Sun Yat-sen University Cancer Center Completed NCT02362958 Phase 2 lapatinib and capecitabine or vinorelbine
7 Lingzhi (Ganoderma Lucidum) and Sen Miao San Supplementation in Rheumatoid Arthritis(RA): An Animal Model and A Phase I Study Completed NCT00432484 Phase 2 Lingzhi and Sen Miao San
8 Department of Hematologic Oncology, Sun Yat-sen University Cancer Center, Guangzhou, China Not yet recruiting NCT04762745 Phase 1, Phase 2 Pomalidomide;Bendamustine;Dexamethasone;Pomalidomide;Bendamustine;Dexamethasone;Pomalidomide;Bendamustine;Dexamethasone;Pomalidomide;Bendamustine;Dexamethasone
9 SEN-SURVIVORS: An Open-Label Intervention Trial to Reduce Senescence and Improve Frailty in Adult Survivors of Childhood Cancer Not yet recruiting NCT04733534 Phase 2 Dasatinib plus Quercetin;Fisetin
10 Sun Yat-sen University Cancer Center Not yet recruiting NCT04796025 Phase 2 Sintilimab; Bevacizumab Biosimilar
11 A NonRandomized, Multicenter, NonSig Risk Study With a NonInv, Passive PressureWave Method of Diagnosing Cerebral Anomalies to Develop a Diag. Algorithm for Cerebral Isch and to Test Sens./Spec. of This Algorithm in Determining Isch Stroke Terminated NCT01643525 Phase 2
12 Safety, Immunogenicity, and Efficacy Following Experimental Challenge of CVD 1208S, a Delta guaBA, Delta Sen, Delta Set Shigella Flexneri 2a Live, Oral Vaccine: Phase IIa Vaccination Study Terminated NCT00866476 Phase 2
13 Sun Yat-sen University Cancer Center Terminated NCT02362230 Phase 2 Icotinib
14 Safety, Immunogenicity, and Efficacy Following Experimental Challenge of CVD 1208S, a Delta guaBA, Delta Sen, Delta Set Shigella Flexneri 2a Live, Oral Vaccine: Phase IIb Challenge Study Terminated NCT00866242 Phase 2
15 A Randomised Double Blind, Multiple Dose, Pharmacokinetic and Safety Study of SENS 401 in Healthy Subjects Completed NCT03071003 Phase 1 SENS-401;Placebo
16 An Open-label, Single-dose, Pharmacokinetic Study of SENS-218 in Healthy Adult, Caucasian Subjects. Completed NCT02772796 Phase 1 SENS-218
17 Safety, Clinical Tolerance, and Immunogenicity of CVD 1208S, a Delta guaBA, Delta Sen, Delta Set, Live, Oral Shigella Flexneri 2a Vaccine Manufactured Using cGMP Completed NCT01531530 Phase 1
18 A Structured Early Palliative Care Intervention for Patients With Advanced Cancer - a Randomized Controlled Trial With a Nested Qualitative Study (SENS Trial) Unknown status NCT01983956
19 Pilot-study HI-SENS: Innovative Sensor Technology to Quantify Cardiac Control Mechanisms in Heart Failure Unknown status NCT01700023
20 Sun Yat-sen Memorial Hospital Unknown status NCT02985346 Early Phase 1
21 Zhongshan Ophthalmic Center, Sun Yat-Sen University,China Unknown status NCT03447041
22 The Effect of Accelerometer Guided App Feedback on Change in Activity in Patients With Low Back Pain Completed NCT04695912
23 Effect of Enteral Immunonutrition on Immune, Inflammatory Markers and Nutritional Status in Patients Undergoing Gastrectomy for Gastric Cancer:a Randomized Double Blinded Controlled Trial Completed NCT03730545
24 Estimation of the Incidence of Hypercapnea in Morbidly Obese Post-Surgical Patients Using the Sen Tec Transcutaneous PCO2 Monitor Completed NCT01248312
25 Sun Yat-sen University Cancer Center Completed NCT02552745 parecoxib sodium
26 Human Umbilical Cord Derived Mesenchymal Stem Cells Therapy in Acute Respiratory Distress Syndrome Recruiting NCT03608592
27 Wise Practice of Chinese Hemodialysis (WISHES) Recruiting NCT03001921
28 High Quality Evidence of Chinese Lupus Nephritis (HELP) Recruiting NCT03001973
29 IgA Nephropathy Registration Initiative of High Quality (INSIGHT) Recruiting NCT03001947
30 Super Chinese Nephrotic Syndrome Registration System (SUCCESS) Recruiting NCT03001934
31 Peritoneal Dialysis Registration System (PERSIST) Recruiting NCT02989298
32 Sun Yat-sen University Cancer Center Recruiting NCT04531228
33 the Department of Medical Ultrasonics, Third Affiliated Hospital of Sun Yat-Sen University, 600 Tianhe Road, Guangzhou, China. Recruiting NCT03221049
34 the Department of Medical Ultrasound, Third Affiliated Hospital of Sun Yat-Sen University Not yet recruiting NCT03530657
35 Guangdong Key Laboratory of Liver Disease Research, Department of Medical Ultrasound, The Third Affiliated Hospital of Sun Yat-sen University Not yet recruiting NCT03777293
36 Efficacy of Self-Expanding Nitinol S.M.A.R.T-CONTROL Stent Versus Complete SE Stent For The Atherosclerotic Femoro-Popliteal Arterial Disease : Prospective, Multicenter, Randomized, Controlled Trial (SENS-FP Trial) Withdrawn NCT01570803

Search NIH Clinical Center for Scalp-Ear-Nipple Syndrome

Cochrane evidence based reviews: 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:

40
Eye, Breast, Liver, Kidney

Publications for Scalp-Ear-Nipple Syndrome

Articles related to Scalp-Ear-Nipple Syndrome:

(show all 18)
# Title Authors PMID Year
1
Mutations in KCTD1 cause scalp-ear-nipple syndrome. 6 57 61
23541344 2013
2
Scalp-ear-nipple (Finlay-Marks) syndrome: a familial case with renal involvement. 57 6 61
10517259 1999
3
Scalp defect, absence of nipples, ear anomalies, renal hypoplasia: another case of Finlay-Marks syndrome. 61 6 57
9383029 1997
4
Scalp-ear-nipple syndrome: additional manifestations. 61 57 6
8042668 1994
5
Finlay-Marks (SEN) syndrome: a sporadic case and the delineation of the syndrome. 57 6
16411189 2006
6
Scalp defect, nipples absence and ears abnormalities: an other case of Finlay syndrome. 6 57
1799422 1991
7
Hypotonia, developmental delay and features of scalp-ear-nipple syndrome in an inbred Arab family. 61 57
17351354 2007
8
Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature. 61 57
15712197 2005
9
Brief clinical report: new, autosomal dominant form of ectodermal dysplasia. 57
6837633 1983
10
An hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples. 57
708615 1978
11
KCTD1 mutants in scalp‑ear‑nipple syndrome and AP‑2α P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/β‑catenin signaling. 61
33000225 2020
12
Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants. 61
31324836 2019
13
Homozygous truncating PTPRF mutation causes athelia. 61
24781087 2014
14
Scalp-ear-nipple syndrome: a case report. 61
24660003 2014
15
Finlay-Marks syndrome: report of two siblings and review of literature. 61
22639454 2012
16
Stahl ear deformity associated with Finlay-Marks syndrome. 61
20556735 2010
17
Finlay-Marks syndrome: another sporadic case and additional manifestations. 61
15151556 2004
18
[Scalp-ear-nipple syndrome]. 61
11528920 2001

Variations for Scalp-Ear-Nipple Syndrome

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCTD1 NM_001142730.3(KCTD1):c.2045A>C (p.His682Pro) SNV Pathogenic 55887 rs587777002 GRCh37: 18:24056567-24056567
GRCh38: 18:26476603-26476603
2 KCTD1 NM_001142730.3(KCTD1):c.1922A>C (p.His641Pro) SNV Pathogenic 55886 rs587777001 GRCh37: 18:24081102-24081102
GRCh38: 18:26501138-26501138
3 KCTD1 NM_001142730.3(KCTD1):c.1923C>A (p.His641Gln) SNV Pathogenic 55885 rs587777000 GRCh37: 18:24081101-24081101
GRCh38: 18:26501137-26501137
4 KCTD1 NM_001142730.3(KCTD1):c.1916C>A (p.Pro639His) SNV Pathogenic 55884 rs587776999 GRCh37: 18:24081108-24081108
GRCh38: 18:26501144-26501144
5 KCTD1 NM_001142730.3(KCTD1):c.1916C>T (p.Pro639Leu) SNV Pathogenic 55883 rs587776999 GRCh37: 18:24081108-24081108
GRCh38: 18:26501144-26501144
6 KCTD1 NM_001142730.3(KCTD1):c.1916C>G (p.Pro639Arg) SNV Pathogenic 55882 rs587776999 GRCh37: 18:24081108-24081108
GRCh38: 18:26501144-26501144
7 KCTD1 NM_001142730.3(KCTD1):c.1913C>A (p.Ala638Glu) SNV Pathogenic 55881 rs587776998 GRCh37: 18:24081111-24081111
GRCh38: 18:26501147-26501147
8 KCTD1 NM_001142730.3(KCTD1):c.1882C>T (p.Pro628Ser) SNV Pathogenic 235828 rs878853125 GRCh37: 18:24081142-24081142
GRCh38: 18:26501178-26501178
9 KCTD1 NM_001142730.3(KCTD1):c.2031C>A (p.Asp677Glu) SNV Pathogenic 235827 rs878853124 GRCh37: 18:24056581-24056581
GRCh38: 18:26476617-26476617
10 KCTD1 NM_001142730.3(KCTD1):c.2009G>A (p.Gly670Asp) SNV Likely pathogenic 55888 rs587777003 GRCh37: 18:24056603-24056603
GRCh38: 18:26476639-26476639

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

72
# 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

Expression for Scalp-Ear-Nipple Syndrome

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

Pathways for Scalp-Ear-Nipple Syndrome

Pathways related to Scalp-Ear-Nipple Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10 TSC2 TSC1

GO Terms for Scalp-Ear-Nipple Syndrome

Cellular components related to Scalp-Ear-Nipple Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribonucleoprotein complex GO:1990904 9.26 ELAVL4 ELAVL3 ELAVL2 ELAVL1
2 TSC1-TSC2 complex GO:0033596 8.62 TSC2 TSC1

Biological processes related to Scalp-Ear-Nipple Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 3'-UTR-mediated mRNA stabilization GO:0070935 9.16 ELAVL4 ELAVL1
2 protein homooligomerization GO:0051260 9.13 KCTD5 KCTD1 ELAVL1
3 negative regulation of cell proliferation GO:0008285 9.02 TSC2 TSC1 NOTCH1 MIR9-1 MIR16-1

Molecular functions related to Scalp-Ear-Nipple Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA 3'-UTR AU-rich region binding GO:0035925 9.13 ELAVL4 ELAVL3 ELAVL1
2 mRNA 3'-UTR binding GO:0003730 9.02 MIR9-1 MIR16-1 ELAVL4 ELAVL2 ELAVL1

Sources for Scalp-Ear-Nipple Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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