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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Hypospadias (D007021)
Parent Node: Muscle Hypotonia (D009123)
..Starting node ..Scalp ear nipple syndrome (C536623)
Child Nodes:
Sister Nodes:
..AL-RAQAD SYNDROME (OMIM:616459)
..ALAZAMI-YUAN SYNDROME (OMIM:617126)
..Allan-Herndon-Dudley syndrome (C537047)
..Atonic-Astatic Syndrome of Foerster (C565926)
..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..Birk-Barel Mental Retardation Dysmorphism Syndrome (C567357)
..Carnitine Acetyltransferase Deficiency (C563249)
..Cohen syndrome (C536438)
..Combined Oxidative Phosphorylation Deficiency 3 (C566467) L: 00097;
..CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
..Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age (C566543)
..Der Kaloustian Mcintosh Silver syndrome (C538217)
..DESANTO-SHINAWI SYNDROME (OMIM:616708)
..Emanuel syndrome (C535733)
..Ethanolaminosis (C562651)
..Fumaric aciduria (C538191)
..German Syndrome (C562543)
..GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
..Grubben de Cock Borghgraef syndrome (C537621)
..Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation (C565736)
..HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
..Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response (C537159)
..HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
..HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
..HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 (OMIM:616801)
..HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
..Hypotonia, Seizures, And Precocious Puberty (C567566)
..Hypotonia-Cystinuria Syndrome (C564710) L: 00416;
..Joubert Syndrome 10 (C567582)
..Joubert syndrome 3 (C536295)
..Joubert syndrome 5 (C537688)
..Ketoadipicaciduria (C565453)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
..Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
..Miller-McKusick-Malvaux-Syndrome (3M Syndrome) (C535314)
..MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
..MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
..MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
..NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
..Opitz-Kaveggia syndrome (C537923)
..Qazi Markouizos syndrome (C536259)
..Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
..Scalp ear nipple syndrome (C536623)
..Three 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 :
Genes: KCTD1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0004691	2-3 toe syndactyly
3	HP:0011939	3-4 finger cutaneous syndactyly
4	HP:0000818	Abnormality of the endocrine system NAMDC: Abnormality of the endocrine system
5	HP:0001595	Abnormality of the hair
6	HP:0001597	Abnormality of the nail
7	HP:0000765	Abnormality of the thorax
8	HP:0006349	Agenesis of permanent teeth
9	HP:0000463	Anteverted nares	HP:0040283
10	HP:0006709	Aplasia/Hypoplasia of the nipples
11	HP:0000581	Blepharophimosis	HP:0040283
12	HP:0100783	Breast aplasia
13	HP:0000519	Congenital cataract	HP:0040283
14	HP:0000378	Cupped ear
15	HP:0005280	Depressed nasal bridge
16	HP:0000286	Epicanthus	HP:0040283
17	HP:0002213	Fine hair	HP:0040283
18	HP:0000822	Hypertension	HP:0040283
19	HP:0000601	Hypotelorism	HP:0040283
20	HP:0000612	Iris coloboma	HP:0040283
21	HP:0000369	Low-set ears
22	HP:0000303	Mandibular prognathia	HP:0040283
23	HP:0008551	Microtia
24	HP:0002164	Nail dysplasia
25	HP:0100540	Palpebral edema
26	HP:0000411	Protruding ear
27	HP:0012330	Pyelonephritis	HP:0040283
28	HP:0000104	Renal agenesis	HP:0040283
29	HP:0000089	Renal hypoplasia	HP:0040283
30	HP:0000083	Renal insufficiency	HP:0040283
31	HP:0002000	Short columella	HP:0040283
32	HP:0000385	Small earlobe
33	HP:0008070	Sparse hair	HP:0040283
34	HP:0011251	Underdeveloped antitragus
35	HP:0011272	Underdeveloped tragus

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001142730.3(KCTD1):c.2045A>C (p.His682Pro)	284252	KCTD1	Pathogenic	rs587777002	RCV000049298;	N	MONDO:MONDO:0008404,MedGen:C1867020,OMIM:181270, Orphanet:2036	18	24056567	24056567	T	G	18:g.24056567T>G	OMIM:613420.0007,ClinGen:CA143999,UniProtKB:Q719H9#VAR_069978	C1867020 181270 Scalp ear nipple syndrome;
NM_001142730.3(KCTD1):c.2031C>A (p.Asp677Glu)	284252	KCTD1	Pathogenic	rs878853124	RCV000224280;	N	MONDO:MONDO:0008404,MedGen:C1867020,OMIM:181270, Orphanet:2036	18	24056581	24056581	G	T	18:g.24056581G>T	ClinGen:CA10581455	C1867020 181270 Scalp ear nipple syndrome;
NM_001142730.3(KCTD1):c.2009G>A (p.Gly670Asp)	284252	KCTD1	Likely pathogenic	rs587777003	RCV000049299;	N	MONDO:MONDO:0008404,MedGen:C1867020,OMIM:181270, Orphanet:2036	18	24056603	24056603	C	T	18:g.24056603C>T	ClinGen:CA144001,UniProtKB:Q719H9#VAR_069977,OMIM:613420.0008	C1867020 181270 Scalp ear nipple syndrome;
NM_001142730.3(KCTD1):c.1923C>A (p.His641Gln)	284252	KCTD1	Pathogenic	rs587777000	RCV000049296;	N	MONDO:MONDO:0008404,MedGen:C1867020,OMIM:181270, Orphanet:2036	18	24081101	24081101	G	T	18:g.24081101G>T	ClinGen:CA143995,UniProtKB:Q719H9#VAR_069976,OMIM:613420.0005	C1867020 181270 Scalp ear nipple syndrome;
NM_001142730.3(KCTD1):c.1922A>C (p.His641Pro)	284252	KCTD1	Pathogenic	rs587777001	RCV000049297;	N	MONDO:MONDO:0008404,MedGen:C1867020,OMIM:181270, Orphanet:2036	18	24081102	24081102	T	G	18:g.24081102T>G	ClinGen:CA143997,UniProtKB:Q719H9#VAR_069975,OMIM:613420.0006	C1867020 181270 Scalp ear nipple syndrome;
NM_001142730.3(KCTD1):c.1916C>G (p.Pro639Arg)	284252	KCTD1	Pathogenic	rs587776999	RCV000049293;	N	MONDO:MONDO:0008404,MedGen:C1867020,OMIM:181270, Orphanet:2036	18	24081108	24081108	G	C	18:g.24081108G>C	ClinGen:CA143989,UniProtKB:Q719H9#VAR_069973,OMIM:613420.0002	C1867020 181270 Scalp ear nipple syndrome;
NM_001142730.3(KCTD1):c.1916C>T (p.Pro639Leu)	284252	KCTD1	Pathogenic	rs587776999	RCV000049294;	N	MONDO:MONDO:0008404,MedGen:C1867020,OMIM:181270, Orphanet:2036	18	24081108	24081108	G	A	18:g.24081108G>A	UniProtKB:Q719H9#VAR_069972,OMIM:613420.0003,ClinGen:CA143991	C1867020 181270 Scalp ear nipple syndrome;
NM_001142730.3(KCTD1):c.1916C>A (p.Pro639His)	284252	KCTD1	Pathogenic	rs587776999	RCV000049295;	N	MONDO:MONDO:0008404,MedGen:C1867020,OMIM:181270, Orphanet:2036	18	24081108	24081108	G	T	18:g.24081108G>T	ClinGen:CA143993,OMIM:613420.0004	C1867020 181270 Scalp ear nipple syndrome;
NM_001142730.3(KCTD1):c.1913C>A (p.Ala638Glu)	284252	KCTD1	Pathogenic	rs587776998	RCV000049292;	N	MONDO:MONDO:0008404,MedGen:C1867020,OMIM:181270, Orphanet:2036	18	24081111	24081111	G	T	18:g.24081111G>T	ClinGen:CA143987,UniProtKB:Q719H9#VAR_069971,OMIM:613420.0001	C1867020 181270 Scalp ear nipple syndrome;
NM_001142730.3(KCTD1):c.1882C>T (p.Pro628Ser)	284252	KCTD1	Pathogenic	rs878853125	RCV000224008;	N	MONDO:MONDO:0008404,MedGen:C1867020,OMIM:181270, Orphanet:2036	18	24081142	24081142	G	A	18:g.24081142G>A	ClinGen:CA10581456	C1867020 181270 Scalp ear nipple syndrome;

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