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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

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Breast Diseases (D001941)
..Starting node ..Ulnar-mammary syndrome (C536937)
Child Nodes:
Sister Nodes:
..Amastia (C562989)
..Breast Cyst (D047688) 1
..Breast Neoplasms (D001943) 17
..Fibrocystic Breast Disease (D005348)
..Gynecomastia (D006177) 7
..Lactation Disorders (D007775) 5
..MAMMARY-DIGITAL-NAIL SYNDROME (OMIM:613689)
..Mastitis (D008413) 1
..Polythelia, Familial (C562557)
..Pseudoangiomatous stromal hyperplasia (C535824)
..Sclerosing lymphocytic lobulitis (C537524)
..Symmastia (C538147)
..Ulnar-mammary syndrome (C536937)
..Zuska's Disease (C536730)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11369

Name:

Ulnar-mammary syndrome

Definition:

Alternative IDs:

OMIM:181450

ParentIDs:

MESH:D000015|MESH:D001941

TreeNumbers:

C16.131.077/C536937 |C17.800.090/C536937

Synonyms:

PALLISTER ULNAR-MAMMARY SYNDROME |Schinzel syndrome |Ulnar-mammary syndrome of Pallister |UMS

Slim Mappings:

Congenital abnormality|Skin disease

Reference:

MedGen: C536937
MeSH: C536937
OMIM: 181450;

Genes: TBX3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003974	Absent radius
3	HP:0002023	Anal atresia
4	HP:0002025	Anal stenosis
5	HP:0010627	Anterior pituitary hypoplasia
6	HP:0003982	Aplasia of the ulna
7	HP:0007397	Axillary apocrine gland hypoplasia
8	HP:0003187	Breast hypoplasia
9	HP:0003977	Deformed radius
10	HP:0000823	Delayed puberty
11	HP:0011755	Ectopic posterior pituitary
12	HP:0000668	Hypodontia
13	HP:0002984	Hypoplasia of the radius
14	HP:0003022	Hypoplasia of the ulna
15	HP:0002557	Hypoplastic nipples
16	HP:0000882	Hypoplastic scapulae
17	HP:0030011	Imperforate hymen
18	HP:0000023	Inguinal hernia
19	HP:0003186	Inverted nipples
20	HP:0000054	Micropenis
21	HP:0001513	Obesity
22	HP:0001162	Postaxial hand polydactyly
23	HP:0002021	Pyloric stenosis
24	HP:0000049	Shawl scrotum
25	HP:0008093	Short 4th toe
26	HP:0011917	Short 5th toe
27	HP:0000894	Short clavicles
28	HP:0005792	Short humerus
29	HP:0002215	Sparse axillary hair
30	HP:0005338	Sparse lateral eyebrow
31	HP:0001607	Subglottic stenosis
32	HP:0001629	Ventricular septal defect

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	Disease_hgmd
NM_016569.3(TBX3):c.1051C>T (p.Gln351Ter)	6926	TBX3	Pathogenic	397514484	RCV000024600;	N	MedGen:C1866994,OMIM:181450,ORPHA:3138	12	115114166	115114166	NM_016569.3:c.1051C>T	NP_057653.3:p.Gln351Ter	NC_000012.11:g.115114166G>A	OMIM Allelic Variant:601621.0005	C1866994 181450 Ulnar-mammary syndrome
NM_016569.3(TBX3):c.877A>T (p.Lys293Ter)	6926	TBX3	Pathogenic	104894376	RCV000008453;	N	MedGen:C1866994,OMIM:181450,ORPHA:3138	12	115115449	115115449	NM_016569.3:c.877A>T	NP_057653.3:p.Lys293Ter	NC_000012.11:g.115115449T>A	OMIM Allelic Variant:601621.0003	C1866994 181450 Ulnar-mammary syndrome