TRPS
MCID: TRC031
MIFTS: 26

Trichorhinophalangeal Syndrome (TRPS) malady

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Bone diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Trichorhinophalangeal Syndrome

Aliases & Descriptions for Trichorhinophalangeal Syndrome:

Name: Trichorhinophalangeal Syndrome 23 69
Tricho-Rhino-Phalangeal Syndrome 23
Trps 23

Characteristics:

GeneReviews:

23
Penetrance No instances of reduced penetrance have been reported; thus, penetrance is believed to be 100% [lüdecke et al 2001]...

Classifications:



Summaries for Trichorhinophalangeal Syndrome

MalaCards based summary : Trichorhinophalangeal Syndrome, also known as tricho-rhino-phalangeal syndrome, is related to trichorhinophalangeal syndrome, type i and trichorhinophalangeal syndrome, type ii. An important gene associated with Trichorhinophalangeal Syndrome is TRPS1 (Transcriptional Repressor GATA Binding 1). Affiliated tissues include bone, breast and testes, and related phenotypes are mortality/aging and craniofacial

Wikipedia : 71 Tricho–rhino–phalangeal syndrome type 2 (also known as Langer-Giedion syndrome) is a genetic... more...

GeneReviews: NBK425926

Related Diseases for Trichorhinophalangeal Syndrome

Graphical network of the top 20 diseases related to Trichorhinophalangeal Syndrome:



Diseases related to Trichorhinophalangeal Syndrome

Symptoms & Phenotypes for Trichorhinophalangeal Syndrome

MGI Mouse Phenotypes related to Trichorhinophalangeal Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.35 EIF3H EXT1 RAD21 TNFRSF11B TRPS1
2 craniofacial MP:0005382 9.33 EXT1 TNFRSF11B TRPS1
3 skeleton MP:0005390 8.92 EIF3H EXT1 TNFRSF11B TRPS1

Drugs & Therapeutics for Trichorhinophalangeal Syndrome

Search Clinical Trials , NIH Clinical Center for Trichorhinophalangeal Syndrome

Genetic Tests for Trichorhinophalangeal Syndrome

Anatomical Context for Trichorhinophalangeal Syndrome

MalaCards organs/tissues related to Trichorhinophalangeal Syndrome:

39
Bone, Breast, Testes, Pancreas

Publications for Trichorhinophalangeal Syndrome

Articles related to Trichorhinophalangeal Syndrome:

(show top 50) (show all 57)
id Title Authors Year
1
Should Patients with Trichorhinophalangeal Syndrome be Tested for Growth Hormone Deficiency? ( 26540763 )
2015
2
Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion. ( 26673557 )
2015
3
An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4. ( 26269715 )
2015
4
Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4. ( 26430469 )
2015
5
A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature. ( 25177352 )
2014
6
TRPS1 Haploinsufficiency Results in Increased STAT3 and SOX9 mRNA Expression in Hair Follicles in Trichorhinophalangeal Syndrome. ( 25136899 )
2014
7
Trichorhinophalangeal syndrome type II due to a novel 8q23.3-q24.12 deletion associated with imperforate hymen and vaginal stenosis. ( 24909397 )
2014
8
Trichorhinophalangeal Syndrome Type I: A Novel Mutation and Perthes-like Changes of the Hip in a Family With 4 Cases Over 3 Generations. ( 25333908 )
2014
9
Trichorhinophalangeal syndrome type I--clinical, microscopic, and molecular features. ( 24448126 )
2014
10
Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling. ( 23572024 )
2014
11
Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells. ( 23451857 )
2013
12
Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I. ( 24574699 )
2013
13
Low trichorhinophalangeal syndrome 1 gene transcript levels in basal-like breast cancer associate with mesenchymal-to-epithelial transition. ( 24074613 )
2013
14
Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I. ( 23510776 )
2013
15
Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression. ( 23835950 )
2013
16
The use of cone beam computed tomography for the assessment of trichorhinophalangeal syndrome, type I - a case report. ( 23524547 )
2013
17
Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene. ( 23691375 )
2013
18
TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability. ( 22127049 )
2012
19
What is your diagnosis? Trichorhinophalangeal syndrome type I. ( 22474724 )
2012
20
Trichorhinophalangeal syndrome type 1: A case report with literature review. ( 23225991 )
2012
21
Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency. ( 22964620 )
2012
22
Improved growth and bone mineral density in type I trichorhinophalangeal syndrome in response to growth hormone therapy. ( 20569260 )
2010
23
Trichorhinophalangeal syndrome: Report of a novel familial TRPS1 mutation. ( 20177376 )
2010
24
Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients. ( 20394624 )
2010
25
A novel missense mutation in the TRPS1 gene in a case of trichorhinophalangeal syndrome type I (TRPS1) with fish-like malodour. ( 19694891 )
2010
26
Severe muscle weakness to necessitate rehabilitation in a case of trichorhinophalangeal syndrome type II. ( 18759793 )
2009
27
A familial case of trichorhinophalangeal syndrome type I. ( 19419465 )
2009
28
Posterior fossa arachnoid cyst, tonsillar herniation, and syringomyelia in trichorhinophalangeal syndrome Type I. ( 18826365 )
2008
29
Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome. ( 18478599 )
2008
30
Hypotrichosis, bulbous nose, and cone-shaped epiphyses in an 8-year-old girl. Trichorhinophalangeal syndrome type I. ( 18950401 )
2008
31
A novel missense mutation in the TRPS1 gene underlies trichorhinophalangeal syndrome type III. ( 18544079 )
2008
32
Trichorhinophalangeal syndrome type II without the chromosome 8 deletion that resembled metachondromatosis. ( 17688470 )
2007
33
Missense mutation in exon 7 of TRPS1 gene in an Italian family with a mild form of trichorhinophalangeal syndrome type I. ( 17854380 )
2007
34
Orthognathic surgery for a patient with trichorhinophalangeal syndrome type I: a case report. ( 16448909 )
2006
35
V-shaped, longitudinal nail dystrophies in trichorhinophalangeal syndrome type I. ( 16088167 )
2005
36
The gene associated with trichorhinophalangeal syndrome in humans is overexpressed in breast cancer. ( 16043716 )
2005
37
Orthognathic surgery for trichorhinophalangeal syndrome type I. ( 12045608 )
2002
38
Trichorhinophalangeal syndrome type I: clinical and molecular characterization of 3 members of a family and 1 sporadic case. ( 11708946 )
2001
39
Trichorhinophalangeal syndrome, type II (Langer-Giedion syndrome). ( 12165224 )
2001
40
Trichorhinophalangeal syndrome type II: case report. ( 10944842 )
2000
41
Trichorhinophalangeal syndrome type I. ( 9731970 )
1998
42
Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II. ( 9799296 )
1998
43
Trichorhinophalangeal syndrome type I in monozygotic twins discordant for hip pathology. Report on the morphological evolution of cone-shaped epiphyses and the unusual pattern of skeletal maturation. ( 9799317 )
1998
44
Erratum: metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndrome (Pediatr radiol (1997) 27: 436-441) ( 9361046 )
1997
45
Trichorhinophalangeal syndrome type 2: another syndromic form of hydrometrocolpos. ( 9409879 )
1997
46
A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I. ( 9138161 )
1997
47
Craniofacial and oral manifestations of trichorhinophalangeal syndrome type I (Giedion's syndrome): a case report. ( 9247947 )
1997
48
A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1). ( 8530105 )
1995
49
Trichorhinophalangeal syndrome, type I. ( 8034799 )
1994
50
A case of trichorhinophalangeal syndrome, type I. ( 7851130 )
1994

Variations for Trichorhinophalangeal Syndrome

Expression for Trichorhinophalangeal Syndrome

Search GEO for disease gene expression data for Trichorhinophalangeal Syndrome.

Pathways for Trichorhinophalangeal Syndrome

GO Terms for Trichorhinophalangeal Syndrome

Biological processes related to Trichorhinophalangeal Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 8.8 EXT1 TNFRSF11B TRPS1

Molecular functions related to Trichorhinophalangeal Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 8.62 RAD21 TRPS1

Sources for Trichorhinophalangeal Syndrome

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