MCID: TRC031
MIFTS: 25

Trichorhinophalangeal Syndrome

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

Aliases & Classifications for Trichorhinophalangeal Syndrome

MalaCards integrated aliases 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:



External Ids:

UMLS 69 C0265255

Summaries for Trichorhinophalangeal Syndrome

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

Wikipedia : 72 Tricho–rhino–phalangeal syndrome type 2 (also known as Langer-Giedion syndrome) is a genetic disorder... 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.62 EXT1 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:

38
Bone, Testes, Pancreas

Publications for Trichorhinophalangeal Syndrome

Articles related to Trichorhinophalangeal Syndrome:

(show top 50) (show all 63)
# Title Authors Year
1
Analysis of a Chinese pedigree with trichorhinophalangeal syndrome derived from a missense mutation in the TRPS1 gene. ( 28244134 )
2017
2
A novel base pair deletion in the TRPS1 gene in a Japanese patient with trichorhinophalangeal syndrome. ( 29180318 )
2017
3
Multiple long bone cysts revealed by MRI in trichorhinophalangeal syndrome type II predisposing to pathological fractures. ( 28493010 )
2017
4
Trichorhinophalangeal Syndrome. ( 28785340 )
2017
5
Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient. ( 28966516 )
2017
6
Trichorhinophalangeal syndrome type II presenting with short stature in a child. ( 27869420 )
2016
7
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
8
Should Patients with Trichorhinophalangeal Syndrome be Tested for Growth Hormone Deficiency? ( 26540763 )
2015
9
Crooked fingers and sparse hair: an interesting case of trichorhinophalangeal syndrome type 1. ( 25628322 )
2015
10
Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion. ( 26673557 )
2015
11
Trichorhinophalangeal syndrome type II due to a novel 8q23.3-q24.12 deletion associated with imperforate hymen and vaginal stenosis. ( 24909397 )
2014
12
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
13
A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature. ( 25177352 )
2014
14
Trichorhinophalangeal syndrome type I--clinical, microscopic, and molecular features. ( 24448126 )
2014
15
Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling. ( 23572024 )
2014
16
TRPS1 Haploinsufficiency Results in Increased STAT3 and SOX9 mRNA Expression in Hair Follicles in Trichorhinophalangeal Syndrome. ( 25136899 )
2014
17
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
18
Low trichorhinophalangeal syndrome 1 gene transcript levels in basal-like breast cancer associate with mesenchymal-to-epithelial transition. ( 24074613 )
2013
19
The use of cone beam computed tomography for the assessment of trichorhinophalangeal syndrome, type I - a case report. ( 23524547 )
2013
20
Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I. ( 24574699 )
2013
21
Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells. ( 23451857 )
2013
22
Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I. ( 23510776 )
2013
23
Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene. ( 23691375 )
2013
24
High grade osteosarcoma on a background of trichorhinophalangeal syndrome: A family perspective. ( 26909277 )
2013
25
Trichorhinophalangeal syndrome type 1: A case report with literature review. ( 23225991 )
2012
26
Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency. ( 22964620 )
2012
27
What is your diagnosis? Trichorhinophalangeal syndrome type I. ( 22474724 )
2012
28
TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability. ( 22127049 )
2012
29
A novel missense mutation in the TRPS1 gene in a case of trichorhinophalangeal syndrome type I (TRPS1) with fish-like malodour. ( 19694891 )
2010
30
Improved growth and bone mineral density in type I trichorhinophalangeal syndrome in response to growth hormone therapy. ( 20569260 )
2010
31
Trichorhinophalangeal syndrome: Report of a novel familial TRPS1 mutation. ( 20177376 )
2010
32
Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients. ( 20394624 )
2010
33
A familial case of trichorhinophalangeal syndrome type I. ( 19419465 )
2009
34
Severe muscle weakness to necessitate rehabilitation in a case of trichorhinophalangeal syndrome type II. ( 18759793 )
2009
35
Posterior fossa arachnoid cyst, tonsillar herniation, and syringomyelia in trichorhinophalangeal syndrome Type I. ( 18826365 )
2008
36
Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome. ( 18478599 )
2008
37
A novel missense mutation in the TRPS1 gene underlies trichorhinophalangeal syndrome type III. ( 18544079 )
2008
38
Missense mutation in exon 7 of TRPS1 gene in an Italian family with a mild form of trichorhinophalangeal syndrome type I. ( 17854380 )
2007
39
Trichorhinophalangeal syndrome type II without the chromosome 8 deletion that resembled metachondromatosis. ( 17688470 )
2007
40
Orthognathic surgery for a patient with trichorhinophalangeal syndrome type I: a case report. ( 16448909 )
2006
41
The gene associated with trichorhinophalangeal syndrome in humans is overexpressed in breast cancer. ( 16043716 )
2005
42
V-shaped, longitudinal nail dystrophies in trichorhinophalangeal syndrome type I. ( 16088167 )
2005
43
Orthognathic surgery for trichorhinophalangeal syndrome type I. ( 12045608 )
2002
44
Trichorhinophalangeal syndrome type I: clinical and molecular characterization of 3 members of a family and 1 sporadic case. ( 11708946 )
2001
45
Trichorhinophalangeal syndrome, type II (Langer-Giedion syndrome). ( 12165224 )
2001
46
Trichorhinophalangeal syndrome type II: case report. ( 10944842 )
2000
47
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
48
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
49
Trichorhinophalangeal syndrome type I. ( 9731970 )
1998
50
Trichorhinophalangeal syndrome type 2: another syndromic form of hydrometrocolpos. ( 9409879 )
1997

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:

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 8.62 EXT1 TRPS1

Sources for Trichorhinophalangeal Syndrome

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65 SNOMED-CT via HPO
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67 TGDB
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69 UMLS
70 UMLS via Orphanet
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