MCID: TRC031
MIFTS: 23

Trichorhinophalangeal Syndrome

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Trichorhinophalangeal Syndrome

MalaCards integrated aliases for Trichorhinophalangeal Syndrome:

Name: Trichorhinophalangeal Syndrome 25 38 6 74

Classifications:



External Ids:

KEGG 38 H00977
UMLS 74 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 pancreas, testes and skin, and related phenotype is craniofacial.

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:

47
# 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:

42
Pancreas, Testes, Skin, Tongue

Publications for Trichorhinophalangeal Syndrome

Articles related to Trichorhinophalangeal Syndrome:

(show top 50) (show all 101)
# Title Authors Year
1
A novel base pair deletion in the TRPS1 gene in a Japanese patient with trichorhinophalangeal syndrome. ( 29521629 )
2018
2
Incidental finding of an Xq microdeletion in a girl with trichorhinophalangeal syndrome type I harboring a novel TRPS1 nonsense mutation. ( 29651829 )
2018
3
Case of meningothelial hamartoma with dermal melanocytosis in a patient with trichorhinophalangeal syndrome type II. ( 29679406 )
2018
4
Treatment of Hair Loss in the Trichorhinophalangeal Syndrome. ( 29853764 )
2018
5
An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature. ( 30458885 )
2018
6
Trichorhinophalangeal syndrome. ( 30522940 )
2018
7
Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome. ( 30584486 )
2018
8
Analysis of a Chinese pedigree with trichorhinophalangeal syndrome derived from a missense mutation in the TRPS1 gene. ( 28244134 )
2017
9
Multiple long bone cysts revealed by MRI in trichorhinophalangeal syndrome type II predisposing to pathological fractures. ( 28493010 )
2017
10
Trichorhinophalangeal Syndrome. ( 28785340 )
2017
11
Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient. ( 28966516 )
2017
12
A novel base pair deletion in the TRPS1 gene in a Japanese patient with trichorhinophalangeal syndrome. ( 29180318 )
2017
13
Trichorhinophalangeal syndrome type II presenting with short stature in a child. ( 27869420 )
2016
14
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
15
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
16
Should Patients with Trichorhinophalangeal Syndrome be Tested for Growth Hormone Deficiency? ( 26540763 )
2015
17
TRPS1 Haploinsufficiency Results in Increased STAT3 and SOX9 mRNA Expression in Hair Follicles in Trichorhinophalangeal Syndrome. ( 25136899 )
2015
18
Trichorhinophalangeal syndrome type I: a novel mutation and Perthes-like changes of the hip in a family with 4 cases over 3 generations. ( 25333908 )
2015
19
Crooked fingers and sparse hair: an interesting case of trichorhinophalangeal syndrome type 1. ( 25628322 )
2015
20
Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion. ( 26673557 )
2015
21
Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling. ( 23572024 )
2014
22
Trichorhinophalangeal syndrome type I--clinical, microscopic, and molecular features. ( 24448126 )
2014
23
Trichorhinophalangeal syndrome type II due to a novel 8q23.3-q24.12 deletion associated with imperforate hymen and vaginal stenosis. ( 24909397 )
2014
24
A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature. ( 25177352 )
2014
25
Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells. ( 23451857 )
2013
26
Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I. ( 23510776 )
2013
27
The use of cone beam computed tomography for the assessment of trichorhinophalangeal syndrome, type I - a case report. ( 23524547 )
2013
28
Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene. ( 23691375 )
2013
29
Prognostic value of the trichorhinophalangeal syndrome-1 (TRPS-1), a GATA family transcription factor, in early-stage breast cancer. ( 23729783 )
2013
30
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
31
Low trichorhinophalangeal syndrome 1 gene transcript levels in basal-like breast cancer associate with mesenchymal-to-epithelial transition. ( 24074613 )
2013
32
Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I. ( 24574699 )
2013
33
High grade osteosarcoma on a background of trichorhinophalangeal syndrome: A family perspective. ( 26909277 )
2013
34
Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency. ( 22964620 )
2012
35
TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability. ( 22127049 )
2012
36
What is your diagnosis? Trichorhinophalangeal syndrome type I. ( 22474724 )
2012
37
Trichorhinophalangeal syndrome type 1: A case report with literature review. ( 23225991 )
2012
38
A novel missense mutation in the TRPS1 gene in a case of trichorhinophalangeal syndrome type I (TRPS1) with fish-like malodour. ( 19694891 )
2010
39
Trichorhinophalangeal syndrome: Report of a novel familial TRPS1 mutation. ( 20177376 )
2010
40
Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients. ( 20394624 )
2010
41
Improved growth and bone mineral density in type I trichorhinophalangeal syndrome in response to growth hormone therapy. ( 20569260 )
2010
42
Severe muscle weakness to necessitate rehabilitation in a case of trichorhinophalangeal syndrome type II. ( 18759793 )
2009
43
A familial case of trichorhinophalangeal syndrome type I. ( 19419465 )
2009
44
Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome. ( 18478599 )
2008
45
Hypotrichosis, bulbous nose, and cone-shaped epiphyses in an 8-year-old girl. Trichorhinophalangeal syndrome type I. ( 18950401 )
2008
46
Posterior fossa arachnoid cyst, tonsillar herniation, and syringomyelia in trichorhinophalangeal syndrome Type I. ( 18826365 )
2008
47
A novel missense mutation in the TRPS1 gene underlies trichorhinophalangeal syndrome type III. ( 18544079 )
2008
48
Trichorhinophalangeal syndrome type II without the chromosome 8 deletion that resembled metachondromatosis. ( 17688470 )
2007
49
Missense mutation in exon 7 of TRPS1 gene in an Italian family with a mild form of trichorhinophalangeal syndrome type I. ( 17854380 )
2007
50
Carpal tunnel syndrome in a patient with trichorhinophalangeal syndrome. ( 16525252 )
2006

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 Benign/Likely benign rs201296334 GRCh37 Chromosome 8, 116430543: 116430543
2 TRPS1 NM_014112.4(TRPS1): c.2823+15C> A single nucleotide variant Benign/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 GRCh38 Chromosome 8, 115408671: 115408671
12 TRPS1 NM_014112.4(TRPS1): c.*5352T> G single nucleotide variant Likely benign rs557387204 GRCh37 Chromosome 8, 116420899: 116420899
13 TRPS1 NM_014112.4(TRPS1): c.*5155C> T single nucleotide variant Likely benign rs138753298 GRCh38 Chromosome 8, 115408868: 115408868
14 TRPS1 NM_014112.4(TRPS1): c.*5155C> T single nucleotide variant Likely benign rs138753298 GRCh37 Chromosome 8, 116421096: 116421096
15 TRPS1 NM_014112.4(TRPS1): c.*4848_*4850del deletion Uncertain significance rs775143556 GRCh38 Chromosome 8, 115409173: 115409175
16 TRPS1 NM_014112.4(TRPS1): c.*4848_*4850del deletion Uncertain significance rs775143556 GRCh37 Chromosome 8, 116421401: 116421403
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 GRCh38 Chromosome 8, 115411175: 115411175
28 TRPS1 NM_014112.4(TRPS1): c.*2848A> T single nucleotide variant Likely benign rs575020760 GRCh37 Chromosome 8, 116423403: 116423403
29 TRPS1 NM_014112.4(TRPS1): c.*2740del deletion Uncertain significance rs879823190 GRCh38 Chromosome 8, 115411283: 115411283
30 TRPS1 NM_014112.4(TRPS1): c.*2740del deletion Uncertain significance rs879823190 GRCh37 Chromosome 8, 116423511: 116423511
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 GRCh38 Chromosome 8, 115413950: 115413950
44 TRPS1 NM_014112.4(TRPS1): c.*73T> C single nucleotide variant Benign rs114484567 GRCh37 Chromosome 8, 116426178: 116426178
45 TRPS1 NM_014112.4(TRPS1): c.-258G> A single nucleotide variant Uncertain significance rs886062628 GRCh37 Chromosome 8, 116680908: 116680908
46 TRPS1 NM_014112.4(TRPS1): c.-258G> A single nucleotide variant Uncertain significance rs886062628 GRCh38 Chromosome 8, 115668681: 115668681
47 TRPS1 NM_014112.4(TRPS1): c.-320_-319del deletion Uncertain significance rs199575103 GRCh38 Chromosome 8, 115668742: 115668743
48 TRPS1 NM_014112.4(TRPS1): c.2662G> A (p.Glu888Lys) single nucleotide variant Uncertain significance rs886062622 GRCh38 Chromosome 8, 115587039: 115587039
49 TRPS1 NM_014112.4(TRPS1): c.2662G> A (p.Glu888Lys) single nucleotide variant Uncertain significance rs886062622 GRCh37 Chromosome 8, 116599266: 116599266
50 TRPS1 NM_014112.4(TRPS1): c.1902C> G (p.Phe634Leu) single nucleotide variant Uncertain significance rs770442142 GRCh38 Chromosome 8, 115604067: 115604067

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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63 PubMed
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75 UMLS via Orphanet
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