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Abnormalities, Multiple (D000015)
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Hypospadias (D007021)
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Muscle Hypotonia (D009123)
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Scalp ear nipple syndrome (C536623)

       Child Nodes:



 Sister Nodes: 
..expandAL-RAQAD SYNDROME (OMIM:616459)
..expandALAZAMI-YUAN SYNDROME (OMIM:617126)
..expandAllan-Herndon-Dudley syndrome (C537047)
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..expandGrubben de Cock Borghgraef syndrome (C537621)
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..expandHYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
..expandHYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
..expandHYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 (OMIM:616801)
..expandHYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
..expandHypotonia, Seizures, And Precocious Puberty (C567566)
..expandHypotonia-Cystinuria Syndrome (C564710)  LSDB  L: 00416;
..expandJoubert Syndrome 10 (C567582)
..expandJoubert syndrome 3 (C536295)
..expandJoubert syndrome 5 (C537688)
..expandKetoadipicaciduria (C565453)
..expandMENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
..expandMidface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
..expandMiller-McKusick-Malvaux-Syndrome (3M Syndrome) (C535314)
..expandMULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
..expandMULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
..expandMULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
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..expandQazi Markouizos syndrome (C536259)
..expandRadioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
..expandScalp ear nipple syndrome (C536623)
..expandThree M Syndrome 2 (C567862)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:11000
Name:Scalp ear nipple syndrome
Definition:
Alternative IDs:OMIM:181270
ParentIDs:MESH:D000015|MESH:D007021|MESH:D009123
TreeNumbers:C10.597.613.575/C536623 |C12.294.494.400/C536623 |C12.706.516/C536623 |C13.351.875.466/C536623 |C16.131.077/C536623 |C16.131.939.516/C536623 |C23.888.592.608.575/C536623
Synonyms:Finlay-Marks Syndrome |Hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples |Scalp-Ear-Nipple Syndrome |SENS |SEN SYNDROME
Slim Mappings:Congenital abnormality|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C536623
MeSH: C536623
OMIM: 181270;
MSeqDR LSDB:  
Genes: KCTD1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:00046912-3 toe syndactyly
3 HP:00119393-4 finger cutaneous syndactyly
4 HP:0000818Abnormality of the endocrine system
NAMDC:  Abnormality of the endocrine system
5 HP:0001595Abnormality of the hair
6 HP:0001597Abnormality of the nail
7 HP:0000765Abnormality of the thorax
8 HP:0006349Agenesis of permanent teeth
9 HP:0000463Anteverted naresHP:0040283
10 HP:0006709Aplasia/Hypoplasia of the nipples
11 HP:0000581BlepharophimosisHP:0040283
12 HP:0100783Breast aplasia
13 HP:0000519Congenital cataractHP:0040283
14 HP:0000378Cupped ear
15 HP:0005280Depressed nasal bridge
16 HP:0000286EpicanthusHP:0040283
17 HP:0002213Fine hairHP:0040283
18 HP:0000822HypertensionHP:0040283
19 HP:0000601HypotelorismHP:0040283
20 HP:0000612Iris colobomaHP:0040283
21 HP:0000369Low-set ears
22 HP:0000303Mandibular prognathiaHP:0040283
23 HP:0008551Microtia
24 HP:0002164Nail dysplasia
25 HP:0100540Palpebral edema
26 HP:0000411Protruding ear
27 HP:0012330PyelonephritisHP:0040283
28 HP:0000104Renal agenesisHP:0040283
29 HP:0000089Renal hypoplasiaHP:0040283
30 HP:0000083Renal insufficiencyHP:0040283
31 HP:0002000Short columellaHP:0040283
32 HP:0000385Small earlobe
33 HP:0008070Sparse hairHP:0040283
34 HP:0011251Underdeveloped antitragus
35 HP:0011272Underdeveloped tragus
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001142730.3(KCTD1):c.2045A>C (p.His682Pro)284252KCTD1Pathogenicrs587777002RCV000049298; NMONDO:MONDO:0008404,MedGen:C1867020,OMIM:181270, Orphanet:2036182405656724056567TG18:g.24056567T>GOMIM:613420.0007,ClinGen:CA143999,UniProtKB:Q719H9#VAR_069978C1867020 181270 Scalp ear nipple syndrome;
NM_001142730.3(KCTD1):c.2031C>A (p.Asp677Glu)284252KCTD1Pathogenicrs878853124RCV000224280; NMONDO:MONDO:0008404,MedGen:C1867020,OMIM:181270, Orphanet:2036182405658124056581GT18:g.24056581G>TClinGen:CA10581455C1867020 181270 Scalp ear nipple syndrome;
NM_001142730.3(KCTD1):c.2009G>A (p.Gly670Asp)284252KCTD1Likely pathogenicrs587777003RCV000049299; NMONDO:MONDO:0008404,MedGen:C1867020,OMIM:181270, Orphanet:2036182405660324056603CT18:g.24056603C>TClinGen:CA144001,UniProtKB:Q719H9#VAR_069977,OMIM:613420.0008C1867020 181270 Scalp ear nipple syndrome;
NM_001142730.3(KCTD1):c.1923C>A (p.His641Gln)284252KCTD1Pathogenicrs587777000RCV000049296; NMONDO:MONDO:0008404,MedGen:C1867020,OMIM:181270, Orphanet:2036182408110124081101GT18:g.24081101G>TClinGen:CA143995,UniProtKB:Q719H9#VAR_069976,OMIM:613420.0005C1867020 181270 Scalp ear nipple syndrome;
NM_001142730.3(KCTD1):c.1922A>C (p.His641Pro)284252KCTD1Pathogenicrs587777001RCV000049297; NMONDO:MONDO:0008404,MedGen:C1867020,OMIM:181270, Orphanet:2036182408110224081102TG18:g.24081102T>GClinGen:CA143997,UniProtKB:Q719H9#VAR_069975,OMIM:613420.0006C1867020 181270 Scalp ear nipple syndrome;
NM_001142730.3(KCTD1):c.1916C>G (p.Pro639Arg)284252KCTD1Pathogenicrs587776999RCV000049293; NMONDO:MONDO:0008404,MedGen:C1867020,OMIM:181270, Orphanet:2036182408110824081108GC18:g.24081108G>CClinGen:CA143989,UniProtKB:Q719H9#VAR_069973,OMIM:613420.0002C1867020 181270 Scalp ear nipple syndrome;
NM_001142730.3(KCTD1):c.1916C>T (p.Pro639Leu)284252KCTD1Pathogenicrs587776999RCV000049294; NMONDO:MONDO:0008404,MedGen:C1867020,OMIM:181270, Orphanet:2036182408110824081108GA18:g.24081108G>AUniProtKB:Q719H9#VAR_069972,OMIM:613420.0003,ClinGen:CA143991C1867020 181270 Scalp ear nipple syndrome;
NM_001142730.3(KCTD1):c.1916C>A (p.Pro639His)284252KCTD1Pathogenicrs587776999RCV000049295; NMONDO:MONDO:0008404,MedGen:C1867020,OMIM:181270, Orphanet:2036182408110824081108GT18:g.24081108G>TClinGen:CA143993,OMIM:613420.0004C1867020 181270 Scalp ear nipple syndrome;
NM_001142730.3(KCTD1):c.1913C>A (p.Ala638Glu)284252KCTD1Pathogenicrs587776998RCV000049292; NMONDO:MONDO:0008404,MedGen:C1867020,OMIM:181270, Orphanet:2036182408111124081111GT18:g.24081111G>TClinGen:CA143987,UniProtKB:Q719H9#VAR_069971,OMIM:613420.0001C1867020 181270 Scalp ear nipple syndrome;
NM_001142730.3(KCTD1):c.1882C>T (p.Pro628Ser)284252KCTD1Pathogenicrs878853125RCV000224008; NMONDO:MONDO:0008404,MedGen:C1867020,OMIM:181270, Orphanet:2036182408114224081142GA18:g.24081142G>AClinGen:CA10581456C1867020 181270 Scalp ear nipple syndrome;
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