MCID: TRC031
MIFTS: 23

Trichorhinophalangeal Syndrome

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

Aliases & Classifications for Trichorhinophalangeal Syndrome

MalaCards integrated aliases for Trichorhinophalangeal Syndrome:

Name: Trichorhinophalangeal Syndrome 24 6 73

Classifications:



External Ids:

UMLS 73 C0265255

Summaries for Trichorhinophalangeal Syndrome

MalaCards based summary : Trichorhinophalangeal 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 : 76 Tricho–rhino–phalangeal syndrome type 2 (also known as Langer-Giedion syndrome) is a genetic disorder... more...

GeneReviews:

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:

46
# 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:

41
Bone, Testes, Pancreas

Publications for Trichorhinophalangeal Syndrome

Articles related to Trichorhinophalangeal Syndrome:

(show top 50) (show all 69)
# Title Authors Year
1
Treatment of Hair Loss in the Trichorhinophalangeal Syndrome. ( 29853764 )
2018
2
A novel base pair deletion in the TRPS1 gene in a Japanese patient with trichorhinophalangeal syndrome. ( 29521629 )
2018
3
Incidental finding of an Xq microdeletion in a girl with Trichorhinophalangeal Syndrome Type I harboring a novel TRPS1 Nonsense mutation. ( 29651829 )
2018
4
Case of meningothelial hamartoma with dermal melanocytosis in a patient with trichorhinophalangeal syndrome type II. ( 29679406 )
2018
5
Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient. ( 28966516 )
2017
6
Analysis of a Chinese pedigree with trichorhinophalangeal syndrome derived from a missense mutation in the TRPS1 gene. ( 28244134 )
2017
7
Trichorhinophalangeal Syndrome. ( 28785340 )
2017
8
A novel base pair deletion in the TRPS1 gene in a Japanese patient with trichorhinophalangeal syndrome. ( 29180318 )
2017
9
Multiple long bone cysts revealed by MRI in trichorhinophalangeal syndrome type II predisposing to pathological fractures. ( 28493010 )
2017
10
Trichorhinophalangeal syndrome type II presenting with short stature in a child. ( 27869420 )
2016
11
Should Patients with Trichorhinophalangeal Syndrome be Tested for Growth Hormone Deficiency? ( 26540763 )
2015
12
Crooked fingers and sparse hair: an interesting case of trichorhinophalangeal syndrome type 1. ( 25628322 )
2015
13
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
14
Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion. ( 26673557 )
2015
15
Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling. ( 23572024 )
2014
16
A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature. ( 25177352 )
2014
17
Trichorhinophalangeal syndrome type II due to a novel 8q23.3-q24.12 deletion associated with imperforate hymen and vaginal stenosis. ( 24909397 )
2014
18
Trichorhinophalangeal syndrome type I--clinical, microscopic, and molecular features. ( 24448126 )
2014
19
TRPS1 Haploinsufficiency Results in Increased STAT3 and SOX9 mRNA Expression in Hair Follicles in Trichorhinophalangeal Syndrome. ( 25136899 )
2014
20
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
21
The use of cone beam computed tomography for the assessment of trichorhinophalangeal syndrome, type I - a case report. ( 23524547 )
2013
22
Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I. ( 24574699 )
2013
23
Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene. ( 23691375 )
2013
24
Low trichorhinophalangeal syndrome 1 gene transcript levels in basal-like breast cancer associate with mesenchymal-to-epithelial transition. ( 24074613 )
2013
25
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
26
Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells. ( 23451857 )
2013
27
High grade osteosarcoma on a background of trichorhinophalangeal syndrome: A family perspective. ( 26909277 )
2013
28
Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I. ( 23510776 )
2013
29
Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency. ( 22964620 )
2012
30
Trichorhinophalangeal syndrome type 1: A case report with literature review. ( 23225991 )
2012
31
What is your diagnosis? Trichorhinophalangeal syndrome type I. ( 22474724 )
2012
32
TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability. ( 22127049 )
2012
33
Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients. ( 20394624 )
2010
34
A novel missense mutation in the TRPS1 gene in a case of trichorhinophalangeal syndrome type I (TRPS1) with fish-like malodour. ( 19694891 )
2010
35
Improved growth and bone mineral density in type I trichorhinophalangeal syndrome in response to growth hormone therapy. ( 20569260 )
2010
36
Trichorhinophalangeal syndrome: Report of a novel familial TRPS1 mutation. ( 20177376 )
2010
37
Severe muscle weakness to necessitate rehabilitation in a case of trichorhinophalangeal syndrome type II. ( 18759793 )
2009
38
A familial case of trichorhinophalangeal syndrome type I. ( 19419465 )
2009
39
Hypotrichosis, bulbous nose, and cone-shaped epiphyses in an 8-year-old girl. Trichorhinophalangeal syndrome type I. ( 18950401 )
2008
40
A novel missense mutation in the TRPS1 gene underlies trichorhinophalangeal syndrome type III. ( 18544079 )
2008
41
Posterior fossa arachnoid cyst, tonsillar herniation, and syringomyelia in trichorhinophalangeal syndrome Type I. ( 18826365 )
2008
42
Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome. ( 18478599 )
2008
43
Missense mutation in exon 7 of TRPS1 gene in an Italian family with a mild form of trichorhinophalangeal syndrome type I. ( 17854380 )
2007
44
Trichorhinophalangeal syndrome type II without the chromosome 8 deletion that resembled metachondromatosis. ( 17688470 )
2007
45
Orthognathic surgery for a patient with trichorhinophalangeal syndrome type I: a case report. ( 16448909 )
2006
46
V-shaped, longitudinal nail dystrophies in trichorhinophalangeal syndrome type I. ( 16088167 )
2005
47
The gene associated with trichorhinophalangeal syndrome in humans is overexpressed in breast cancer. ( 16043716 )
2005
48
Orthognathic surgery for trichorhinophalangeal syndrome type I. ( 12045608 )
2002
49
Trichorhinophalangeal syndrome, type II (Langer-Giedion syndrome). ( 12165224 )
2001
50
Trichorhinophalangeal syndrome type I: clinical and molecular characterization of 3 members of a family and 1 sporadic case. ( 11708946 )
2001

Variations for Trichorhinophalangeal Syndrome

ClinVar genetic disease variations for Trichorhinophalangeal Syndrome:

6
(show top 50) (show all 278)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPS1 NM_014112.4(TRPS1): c.2823+15C> A single nucleotide variant Likely benign rs201296334 GRCh37 Chromosome 8, 116430543: 116430543
2 TRPS1 NM_014112.4(TRPS1): c.2823+15C> A single nucleotide variant Likely benign rs201296334 GRCh38 Chromosome 8, 115418315: 115418315
3 TRPS1 NM_014112.4(TRPS1): c.2700+10T> C single nucleotide variant Benign rs76046106 GRCh37 Chromosome 8, 116599218: 116599218
4 TRPS1 NM_014112.4(TRPS1): c.2700+10T> C single nucleotide variant Benign rs76046106 GRCh38 Chromosome 8, 115586991: 115586991
5 TRPS1 NM_014112.4(TRPS1): c.423G> T (p.Pro141=) single nucleotide variant Benign rs7823278 GRCh37 Chromosome 8, 116631902: 116631902
6 TRPS1 NM_014112.4(TRPS1): c.423G> T (p.Pro141=) single nucleotide variant Benign rs7823278 GRCh38 Chromosome 8, 115619675: 115619675
7 TRPS1 NM_014112.4(TRPS1): c.-9dupT duplication Benign rs35329862 GRCh37 Chromosome 8, 116635873: 116635873
8 TRPS1 NM_014112.4(TRPS1): c.-9dupT duplication Benign rs35329862 GRCh38 Chromosome 8, 115623646: 115623646
9 TRPS1 NM_014112.4(TRPS1): c.3328C> T (p.Leu1110Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs148023627 GRCh37 Chromosome 8, 116426808: 116426808
10 TRPS1 NM_014112.4(TRPS1): c.3328C> T (p.Leu1110Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs148023627 GRCh38 Chromosome 8, 115414580: 115414580
11 TRPS1 NM_014112.4(TRPS1): c.*5352T> G single nucleotide variant Likely benign rs557387204 GRCh37 Chromosome 8, 116420899: 116420899
12 TRPS1 NM_014112.4(TRPS1): c.*5352T> G single nucleotide variant Likely benign rs557387204 GRCh38 Chromosome 8, 115408671: 115408671
13 TRPS1 NM_014112.4(TRPS1): c.*5155C> T single nucleotide variant Likely benign rs138753298 GRCh37 Chromosome 8, 116421096: 116421096
14 TRPS1 NM_014112.4(TRPS1): c.*5155C> T single nucleotide variant Likely benign rs138753298 GRCh38 Chromosome 8, 115408868: 115408868
15 TRPS1 NM_014112.4(TRPS1): c.*4848_*4850delATA deletion Uncertain significance rs775143556 GRCh37 Chromosome 8, 116421401: 116421403
16 TRPS1 NM_014112.4(TRPS1): c.*4848_*4850delATA deletion Uncertain significance rs775143556 GRCh38 Chromosome 8, 115409173: 115409175
17 TRPS1 NM_014112.4(TRPS1): c.*4633C> T single nucleotide variant Likely benign rs192301667 GRCh37 Chromosome 8, 116421618: 116421618
18 TRPS1 NM_014112.4(TRPS1): c.*4633C> T single nucleotide variant Likely benign rs192301667 GRCh38 Chromosome 8, 115409390: 115409390
19 TRPS1 NM_014112.4(TRPS1): c.*4305T> G single nucleotide variant Likely benign rs3824193 GRCh37 Chromosome 8, 116421946: 116421946
20 TRPS1 NM_014112.4(TRPS1): c.*4305T> G single nucleotide variant Likely benign rs3824193 GRCh38 Chromosome 8, 115409718: 115409718
21 TRPS1 NM_014112.4(TRPS1): c.*4159T> C single nucleotide variant Likely benign rs189047633 GRCh37 Chromosome 8, 116422092: 116422092
22 TRPS1 NM_014112.4(TRPS1): c.*4159T> C single nucleotide variant Likely benign rs189047633 GRCh38 Chromosome 8, 115409864: 115409864
23 TRPS1 NM_014112.4(TRPS1): c.*3338C> T single nucleotide variant Uncertain significance rs886062609 GRCh37 Chromosome 8, 116422913: 116422913
24 TRPS1 NM_014112.4(TRPS1): c.*3338C> T single nucleotide variant Uncertain significance rs886062609 GRCh38 Chromosome 8, 115410685: 115410685
25 TRPS1 NM_014112.4(TRPS1): c.*2951T> C single nucleotide variant Benign rs7843293 GRCh38 Chromosome 8, 115411072: 115411072
26 TRPS1 NM_014112.4(TRPS1): c.*2951T> C single nucleotide variant Benign rs7843293 GRCh37 Chromosome 8, 116423300: 116423300
27 TRPS1 NM_014112.4(TRPS1): c.*2848A> T single nucleotide variant Likely benign rs575020760 GRCh37 Chromosome 8, 116423403: 116423403
28 TRPS1 NM_014112.4(TRPS1): c.*2848A> T single nucleotide variant Likely benign rs575020760 GRCh38 Chromosome 8, 115411175: 115411175
29 TRPS1 NM_014112.4(TRPS1): c.*2740delT deletion Uncertain significance rs886062613 GRCh37 Chromosome 8, 116423511: 116423511
30 TRPS1 NM_014112.4(TRPS1): c.*2740delT deletion Uncertain significance rs886062613 GRCh38 Chromosome 8, 115411283: 115411283
31 TRPS1 NM_014112.4(TRPS1): c.*2092C> T single nucleotide variant Benign rs76370352 GRCh37 Chromosome 8, 116424159: 116424159
32 TRPS1 NM_014112.4(TRPS1): c.*2092C> T single nucleotide variant Benign rs76370352 GRCh38 Chromosome 8, 115411931: 115411931
33 TRPS1 NM_014112.4(TRPS1): c.*1989G> T single nucleotide variant Likely benign rs374198740 GRCh37 Chromosome 8, 116424262: 116424262
34 TRPS1 NM_014112.4(TRPS1): c.*1989G> T single nucleotide variant Likely benign rs374198740 GRCh38 Chromosome 8, 115412034: 115412034
35 TRPS1 NM_014112.4(TRPS1): c.*1843T> A single nucleotide variant Benign rs77662114 GRCh37 Chromosome 8, 116424408: 116424408
36 TRPS1 NM_014112.4(TRPS1): c.*1843T> A single nucleotide variant Benign rs77662114 GRCh38 Chromosome 8, 115412180: 115412180
37 TRPS1 NM_014112.4(TRPS1): c.*718C> T single nucleotide variant Likely benign rs370751437 GRCh37 Chromosome 8, 116425533: 116425533
38 TRPS1 NM_014112.4(TRPS1): c.*718C> T single nucleotide variant Likely benign rs370751437 GRCh38 Chromosome 8, 115413305: 115413305
39 TRPS1 NM_014112.4(TRPS1): c.*684T> C single nucleotide variant Uncertain significance rs753393164 GRCh37 Chromosome 8, 116425567: 116425567
40 TRPS1 NM_014112.4(TRPS1): c.*684T> C single nucleotide variant Uncertain significance rs753393164 GRCh38 Chromosome 8, 115413339: 115413339
41 TRPS1 NM_014112.4(TRPS1): c.*522G> T single nucleotide variant Uncertain significance rs886062621 GRCh37 Chromosome 8, 116425729: 116425729
42 TRPS1 NM_014112.4(TRPS1): c.*522G> T single nucleotide variant Uncertain significance rs886062621 GRCh38 Chromosome 8, 115413501: 115413501
43 TRPS1 NM_014112.4(TRPS1): c.*73T> C single nucleotide variant Benign rs114484567 GRCh37 Chromosome 8, 116426178: 116426178
44 TRPS1 NM_014112.4(TRPS1): c.*73T> C single nucleotide variant Benign rs114484567 GRCh38 Chromosome 8, 115413950: 115413950
45 TRPS1 NM_014112.4(TRPS1): c.2662G> A (p.Glu888Lys) single nucleotide variant Uncertain significance rs886062622 GRCh38 Chromosome 8, 115587039: 115587039
46 TRPS1 NM_014112.4(TRPS1): c.2662G> A (p.Glu888Lys) single nucleotide variant Uncertain significance rs886062622 GRCh37 Chromosome 8, 116599266: 116599266
47 TRPS1 NM_014112.4(TRPS1): c.1902C> G (p.Phe634Leu) single nucleotide variant Uncertain significance rs770442142 GRCh38 Chromosome 8, 115604067: 115604067
48 TRPS1 NM_014112.4(TRPS1): c.1902C> G (p.Phe634Leu) single nucleotide variant Uncertain significance rs770442142 GRCh37 Chromosome 8, 116616294: 116616294
49 TRPS1 NM_014112.4(TRPS1): c.1456G> A (p.Asp486Asn) single nucleotide variant Likely benign rs34474186 GRCh37 Chromosome 8, 116616740: 116616740
50 TRPS1 NM_014112.4(TRPS1): c.1456G> A (p.Asp486Asn) single nucleotide variant Likely benign rs34474186 GRCh38 Chromosome 8, 115604513: 115604513

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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