TRPS
MCID: TRC031
MIFTS: 28

Trichorhinophalangeal Syndrome (TRPS)

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 24 37 6 73
Tricho-Rhino-Phalangeal Syndrome 24
Trps 24

Characteristics:

GeneReviews:

24
Penetrance No instances of reduced penetrance have been reported; thus, penetrance is believed to be 100% [lüdecke et al 2001]...

Classifications:



External Ids:

KEGG 37 H00977
UMLS 73 C0265255

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, skin and testes, and related phenotype is craniofacial.

GeneReviews: NBK425926

Related Diseases for Trichorhinophalangeal Syndrome

Diseases in the Trichorhinophalangeal Syndrome family:

Trichorhinophalangeal Syndrome, Type Ii Trichorhinophalangeal Syndrome, Type I
Trichorhinophalangeal Syndrome, Type Iii Trichorhinophalangeal Syndrome Type 1 and 3

Diseases related to Trichorhinophalangeal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 115)
# Related Disease Score Top Affiliating Genes
1 trichorhinophalangeal syndrome, type i 33.6 EXT1 TRPS1
2 trichorhinophalangeal syndrome, type ii 33.6 EXT1 TRPS1
3 trichorhinophalangeal syndrome, type iii 12.3
4 trichorhinophalangeal syndrome type 1 and 3 12.0
5 exostoses, multiple, type i 11.1
6 legg-calve-perthes disease 10.5
7 coxa vara 10.4
8 osteoporosis 10.4
9 spondylolisthesis 10.4
10 teeth, supernumerary 10.4
11 vesicoureteral reflux 1 10.4
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
13 brachydactyly 10.4
14 nephrotic syndrome 10.4
15 branchiootorenal syndrome 10.4
16 ossifying fibroma 10.4
17 pseudohypoparathyroidism 10.4
18 mitral valve disease 10.4
19 hypoglycemia 10.4
20 growth hormone deficiency 10.2
21 breast cancer 10.1
22 metachondromatosis 10.1
23 cornelia de lange syndrome 4 10.1
24 cornelia de lange syndrome 10.1
25 thalassemia 10.0
26 alpha-thalassemia 10.0
27 spondyloocular syndrome 10.0
28 kidney disease 10.0
29 isolated optic neuritis 10.0
30 carpal tunnel syndrome 9.9
31 cornelia de lange syndrome 1 9.9
32 systemic lupus erythematosus 9.9
33 pancreas, annular 9.9
34 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.9
35 cartilage-hair hypoplasia 9.9
36 avascular necrosis of femoral head, primary, 1 9.9
37 mononeuropathy of the median nerve, mild 9.9
38 alacrima, achalasia, and mental retardation syndrome 9.9
39 polyglucosan body myopathy 1 with or without immunodeficiency 9.9
40 syringomyelia 9.9
41 hypotrichosis 9.9
42 lupus erythematosus 9.9
43 arachnoid cysts 9.9
44 dermatopathia pigmentosa reticularis 9.9
45 hypertension, essential 9.9
46 mitochondrial myopathy 9.9
47 insulin-like growth factor i 9.9
48 diabetes mellitus 9.9
49 polycystic kidney disease 9.9
50 von willebrand's disease 9.9

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, Skin, Testes, Pancreas, Kidney, Spinal Cord

Publications for Trichorhinophalangeal Syndrome

Articles related to Trichorhinophalangeal Syndrome:

(show top 50) (show all 165)
# 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
Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report. ( 30541476 )
2018
5
Case of meningothelial hamartoma with dermal melanocytosis in a patient with trichorhinophalangeal syndrome type II. ( 29679406 )
2018
6
An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature. ( 30458885 )
2018
7
Trichorhinophalangeal syndrome. ( 30522940 )
2018
8
A novel missense mutation in exon 3 of the TRPS1 gene in a patient with a mild phenotype of tricho-rhino-phalangeal syndrome type 1. ( 29400302 )
2018
9
Tricho-rhino-phalangeal syndrome 1 protein functions as a scaffold required for ubiquitin-specific protease 4-directed histone deacetylase 2 de-ubiquitination and tumor growth. ( 30071870 )
2018
10
Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient. ( 28966516 )
2017
11
Analysis of a Chinese pedigree with trichorhinophalangeal syndrome derived from a missense mutation in the TRPS1 gene. ( 28244134 )
2017
12
Trichorhinophalangeal Syndrome. ( 28785340 )
2017
13
A novel base pair deletion in the TRPS1 gene in a Japanese patient with trichorhinophalangeal syndrome. ( 29180318 )
2017
14
Multiple long bone cysts revealed by MRI in trichorhinophalangeal syndrome type II predisposing to pathological fractures. ( 28493010 )
2017
15
A novel mutation in TRPS1 in a patient with tricho-rhino-phalangeal syndrome type 1, accompanied by vesicoureteral reflux. ( 29138122 )
2017
16
Trichorhinophalangeal syndrome type II presenting with short stature in a child. ( 27869420 )
2016
17
Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I. ( 27267340 )
2016
18
A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family. ( 27507914 )
2016
19
Should Patients with Trichorhinophalangeal Syndrome be Tested for Growth Hormone Deficiency? ( 26540763 )
2015
20
Crooked fingers and sparse hair: an interesting case of trichorhinophalangeal syndrome type 1. ( 25628322 )
2015
21
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
22
Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion. ( 26673557 )
2015
23
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
24
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. ( 25792522 )
2015
25
Painless lumps in the proximal interphalangeal joints in tricho-rhino-phalangeal syndrome type 1. ( 26113321 )
2015
26
Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling. ( 23572024 )
2014
27
A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature. ( 25177352 )
2014
28
Trichorhinophalangeal syndrome type II due to a novel 8q23.3-q24.12 deletion associated with imperforate hymen and vaginal stenosis. ( 24909397 )
2014
29
Trichorhinophalangeal syndrome type I--clinical, microscopic, and molecular features. ( 24448126 )
2014
30
TRPS1 Haploinsufficiency Results in Increased STAT3 and SOX9 mRNA Expression in Hair Follicles in Trichorhinophalangeal Syndrome. ( 25136899 )
2014
31
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
32
A novel de novo nonsense mutation in the TRPS1 gene in a Japanese patient with tricho-rhino-phalangeal syndrome type I. ( 23621477 )
2014
33
Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation. ( 24502542 )
2014
34
The tricho-rhino-phalangeal syndrome: oral manifestations and management. ( 24984390 )
2014
35
The Co-Occurrence of Tricho-Rhino-Phalangeal Syndrome and Early-Onset Levodopa-Sensitive Parkinsonism. ( 30363875 )
2014
36
The use of cone beam computed tomography for the assessment of trichorhinophalangeal syndrome, type I - a case report. ( 23524547 )
2013
37
Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I. ( 24574699 )
2013
38
Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene. ( 23691375 )
2013
39
Low trichorhinophalangeal syndrome 1 gene transcript levels in basal-like breast cancer associate with mesenchymal-to-epithelial transition. ( 24074613 )
2013
40
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
41
Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells. ( 23451857 )
2013
42
High grade osteosarcoma on a background of trichorhinophalangeal syndrome: A family perspective. ( 26909277 )
2013
43
Prognostic value of the trichorhinophalangeal syndrome-1 (TRPS-1), a GATA family transcription factor, in early-stage breast cancer. ( 23729783 )
2013
44
Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I. ( 23510776 )
2013
45
The Role of Tricho-Rhino-Phalangeal Syndrome (TRPS) 1 in Apoptosis during Embryonic Development and Tumor Progression. ( 24709795 )
2013
46
Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency. ( 22964620 )
2012
47
Trichorhinophalangeal syndrome type 1: A case report with literature review. ( 23225991 )
2012
48
What is your diagnosis? Trichorhinophalangeal syndrome type I. ( 22474724 )
2012
49
TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability. ( 22127049 )
2012
50
Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I. ( 21524721 )
2011

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 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

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