TRPS
MCID: TRC031
MIFTS: 30

Trichorhinophalangeal Syndrome (TRPS)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases, Smell/Taste diseases
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Aliases & Classifications for Trichorhinophalangeal Syndrome

MalaCards integrated aliases for Trichorhinophalangeal Syndrome:

Name: Trichorhinophalangeal Syndrome 24 58 5 71
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% [l├╝decke et al 2001].

Classifications:

Orphanet: 58  
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 32 Q87.8
UMLS via Orphanet 72 C0265255
Orphanet 58 ORPHA324764
UMLS 71 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 dorsal root ganglion.

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 148)
# Related Disease Score Top Affiliating Genes
1 trichorhinophalangeal syndrome, type i 32.3 TRPS1 EXT1
2 trichorhinophalangeal syndrome, type ii 32.3 TRPS1 EXT1
3 trichorhinophalangeal syndrome, type iii 32.2 TRPS1 EXT1
4 brachydactyly 29.8 TRPS1 EXT1
5 cornelia de lange syndrome 4 with or without midline brain defects 29.6 TRPS1 EXT1
6 osteochondrodysplasia 29.5 TRPS1 EXT1
7 hereditary multiple exostoses 29.3 TRPS1 EXT1
8 trichorhinophalangeal syndrome type 1 and 3 11.2
9 exostoses, multiple, type i 11.1
10 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5
11 chromosome 8q deletion 10.5
12 alopecia 10.4
13 juvenile rheumatoid arthritis 10.4
14 growth hormone deficiency 10.2
15 pseudohypoparathyroidism, type ia 10.2
16 coxa vara 10.2
17 marfan syndrome 10.2
18 osteoporosis 10.2
19 nephrolithiasis, calcium oxalate 10.2
20 ruvalcaba syndrome 10.2
21 spondylolisthesis 10.2
22 trichohepatoenteric syndrome 1 10.2
23 hydrocephalus, congenital, 1 10.2
24 nephrotic syndrome, type 1 10.2
25 ceroid lipofuscinosis, neuronal, 5 10.2
26 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.2
27 budd-chiari syndrome 10.2
28 branchiootic syndrome 1 10.2
29 brittle bone disorder 10.2
30 osteofibrous dysplasia 10.2
31 bone mineral density quantitative trait locus 8 10.2
32 pseudopseudohypoparathyroidism 10.2
33 bone mineral density quantitative trait locus 15 10.2
34 okur-chung neurodevelopmental syndrome 10.2
35 tooth agenesis 10.2
36 fibroma 10.2
37 luminal breast carcinoma a 10.2
38 bone disease 10.2
39 parkinsonism 10.2
40 sensorineural hearing loss 10.2
41 respiratory failure 10.2
42 nephrotic syndrome 10.2
43 branchiootorenal syndrome 10.2
44 ossifying fibroma 10.2
45 bone cancer 10.2
46 familial nephrotic syndrome 10.2
47 cystic kidney disease 10.2
48 turner syndrome 10.2
49 pseudohypoparathyroidism 10.2
50 kidney disease 10.2

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



Diseases related to Trichorhinophalangeal Syndrome

Symptoms & Phenotypes for Trichorhinophalangeal Syndrome

Drugs & Therapeutics for Trichorhinophalangeal Syndrome

Search Clinical Trials, NIH Clinical Center for Trichorhinophalangeal Syndrome

Genetic Tests for Trichorhinophalangeal Syndrome

Anatomical Context for Trichorhinophalangeal Syndrome

Organs/tissues related to Trichorhinophalangeal Syndrome:

MalaCards : Bone, Skin, Dorsal Root Ganglion, Breast, Smooth Muscle, Brain, Trigeminal Ganglion

Publications for Trichorhinophalangeal Syndrome

Articles related to Trichorhinophalangeal Syndrome:

(show top 50) (show all 1318)
# Title Authors PMID Year
1
Syndromes with supernumerary teeth. 62 24
27250821 2016
2
Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I. 62 24
27267340 2016
3
Should Patients with Trichorhinophalangeal Syndrome be Tested for Growth Hormone Deficiency? 62 24
26540763 2015
4
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 62 24
25792522 2015
5
New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene. 62 24
24886451 2014
6
Thricho-rhino-phalangeal syndrome and severe osteoporosis: a rare association or a feature? An effective therapeutic approach with biphosphonates. 62 24
24357341 2014
7
Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling. 62 24
23572024 2014
8
Trichorhinophalangeal syndrome type I--clinical, microscopic, and molecular features. 62 24
24448126 2014
9
Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression. 62 24
23835950 2013
10
An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy. 62 24
23933416 2013
11
Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency. 62 24
22964620 2012
12
Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I. 62 24
21524721 2011
13
A novel mutation in TPRS1 gene caused tricho-rhino-phalangeal syndrome in a Chinese patient with severe osteoporosis. 62 24
21740822 2011
14
Improved growth and bone mineral density in type I trichorhinophalangeal syndrome in response to growth hormone therapy. 62 24
20569260 2010
15
Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13). 62 24
19012352 2008
16
Tricho-rhino-phalangeal syndrome with supernumerary teeth. 62 24
18946009 2008
17
Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome. 62 24
18478599 2008
18
Trichorhinophalangeal syndrome. 62 24
16243138 2005
19
[Surgical therapy of cone-shaped epiphyses of the proximal interphalangeal joints in tricho-rhino-phalangeal syndrome type I: a survey among three successive generations of a single family]. 62 24
15616909 2004
20
Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency. 62 24
15523607 2004
21
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. 62 24
11112658 2001
22
Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8. 62 24
10647898 1999
23
Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases. 62 24
4723882 1973
24
Tricho-rhino-phalangeal syndrome. 62 24
5820605 1969
25
[Tricho-rhino-phalangeal syndrome]. 62 24
5991804 1966
26
Management of nerve compression in multiple hereditary exostoses: a report of two cases and review of the literature. 24
27444292 2016
27
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. 24
25125236 2014
28
RAD21 mutations cause a human cohesinopathy. 24
22633399 2012
29
Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood. 24
20635356 2010
30
Hereditary multiple exostoses. 24
1856833 1991
31
Langer-Giedion syndrome. 24
4549298 1974
32
The syndrome of brachymetacarpal dwarfism (pseudo-pseudohypoparathyroidism) with and without gonadal dysgenesis. 24
13621640 1959
33
Trichorhinophalangeal Syndrome Type 1-Positive Cells in Breast Dermal Granulation Tissues and Scars: A Potential Diagnostic Pitfall. 62
35925150 2022
34
Utility of TRPS-1 immunohistochemistry in diagnosis of metastatic breast carcinoma in cytology specimens. 62
36055933 2022
35
The diagnostic utility of trichorhinophalangeal syndrome type 1 immunohistochemistry for metastatic breast carcinoma in effusion cytology specimens. 62
36399408 2022
36
A novel TRPS1 mutation in a Chinese patient with trichorhinophalangeal syndrome type I. 62
36376245 2022
37
Potent Activation of Human but Not Mouse TRPA1 by JT010. 62
36430781 2022
38
Tricho-rhino-phalangeal syndrome - clinical, trichoscopic and radiological images. 62
36344351 2022
39
Effect of Imidazolium Nitrate Ionic Liquids on Conformational Changes of Poly(N-vinylcaprolactam). 62
36385857 2022
40
BmGr4 responds to sucrose and glucose and expresses in tachykinin-related peptide-secreting enteroendocrine cells. 62
36244651 2022
41
Transcriptional landscape of TRPV1, TRPA1, TRPV4, and TRPM8 channels throughout human tissues. 62
36126722 2022
42
Path Analysis Models Integrating Psychological, Psycho-physical and Clinical Variables in Individuals With Tension-Type Headache. 62
36244659 2022
43
Protein kinase C-mediated phosphorylation of transient receptor potential melastatin type 2 Thr738 counteracts the effect of cytosolic Ca2+ and elevates the temperature threshold. 62
36042566 2022
44
Tachykinin-related peptides modulate immune-gene expression in the mealworm beetle Tenebrio molitor L. 62
36241888 2022
45
Intramuscular Electrical Stimulation to Trigger Points: Insights into Mechanisms and Clinical Applications-A Scoping Review. 62
36294360 2022
46
Synthesis of Tropine-Based Functionalized Acidic Ionic Liquids and Catalysis of Esterification. 62
36361664 2022
47
Characterization of a Novel Frameshift Mutation Within the TRPS1 Gene Causing Trichorhinophalangeal Syndrome Type 1 in a Kindred Cypriot Family. 62
36093893 2022
48
Potential Role of Obstructive Sleep Apnea on Pain Sensitization and Jaw Function in Temporomandibular Disorder Patients. 62
36217573 2022
49
Evaluation of TRPS1 Expression in Pleural Effusion Cytology Specimens With Metastatic Breast Carcinoma. 62
35760555 2022
50
Functional mechanisms of TRPS1 in disease progression and its potential role in personalized medicine. 62
35863130 2022

Variations for Trichorhinophalangeal Syndrome

ClinVar genetic disease variations for Trichorhinophalangeal Syndrome:

5 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRPS1 NM_014112.5(TRPS1):c.1382C>G (p.Ser461Ter) SNV Pathogenic
1328181 GRCh37: 8:116616814-116616814
GRCh38: 8:115604587-115604587
2 TRPS1 NM_014112.5(TRPS1):c.*4754_*4761dup DUP Uncertain Significance
361520 rs755990611 GRCh37: 8:116421489-116421490
GRCh38: 8:115409261-115409262
3 TRPS1 NM_014112.5(TRPS1):c.*1843del DEL Uncertain Significance
361584 rs886062619 GRCh37: 8:116424408-116424408
GRCh38: 8:115412180-115412180
4 TRPS1 NM_014112.5(TRPS1):c.-318CT[13] MICROSAT Uncertain Significance
361640 rs10546472 GRCh37: 8:116680944-116680945
GRCh38: 8:115668717-115668718
5 TRPS1 NM_014112.5(TRPS1):c.*2752_*2754del DEL Uncertain Significance
361562 rs886062612 GRCh37: 8:116423497-116423499
GRCh38: 8:115411269-115411271
6 TRPS1 NM_014112.5(TRPS1):c.-382del DEL Uncertain Significance
361646 rs886062631 GRCh37: 8:116681032-116681032
GRCh38: 8:115668805-115668805
7 TRPS1 NM_014112.5(TRPS1):c.-487A>C SNV Uncertain Significance
361649 rs886062633 GRCh37: 8:116681137-116681137
GRCh38: 8:115668910-115668910
8 TRPS1 NM_014112.5(TRPS1):c.*4741del DEL Uncertain Significance
361524 rs886062604 GRCh37: 8:116421510-116421510
GRCh38: 8:115409282-115409282
9 TRPS1 NM_014112.5(TRPS1):c.*4845ATA[1] MICROSAT Uncertain Significance
361517 rs775143556 GRCh37: 8:116421401-116421403
GRCh38: 8:115409173-115409175
10 TRPS1 NM_014112.5(TRPS1):c.-318CT[9] MICROSAT Uncertain Significance
361641 rs10546472 GRCh37: 8:116680945-116680950
GRCh38: 8:115668718-115668723
11 TRPS1 NM_014112.5(TRPS1):c.*2740del DEL Uncertain Significance
361563 rs879823190 GRCh37: 8:116423511-116423511
GRCh38: 8:115411283-115411283
12 TRPS1 NM_014112.5(TRPS1):c.*338del DEL Uncertain Significance
361603 rs530055629 GRCh37: 8:116425913-116425913
GRCh38: 8:115413685-115413685
13 TRPS1 NM_014112.5(TRPS1):c.-320_-319del DEL Uncertain Significance
361644 rs199575103 GRCh37: 8:116680969-116680970
GRCh38: 8:115668742-115668743
14 TRPS1 NM_014112.5(TRPS1):c.-393_-392dup DUP Uncertain Significance
361647 rs759303878 GRCh37: 8:116681041-116681042
GRCh38: 8:115668814-115668815
15 TRPS1 NM_014112.5(TRPS1):c.*4593AAAGG[1] MICROSAT Uncertain Significance
361534 rs755682849 GRCh37: 8:116421649-116421653
GRCh38: 8:115409421-115409425
16 TRPS1 NM_014112.5(TRPS1):c.*1983_*1984insG INSERT Uncertain Significance
361581 rs886062618 GRCh37: 8:116424267-116424268
GRCh38: 8:115412039-115412040
17 TRPS1 NM_014112.5(TRPS1):c.*3538del DEL Uncertain Significance
369687 rs547899966 GRCh37: 8:116422713-116422713
GRCh38: 8:115410485-115410485
18 TRPS1 NM_014112.5(TRPS1):c.*2537del DEL Likely Benign
361567 rs570702506 GRCh37: 8:116423714-116423714
GRCh38: 8:115411486-115411486
19 TRPS1 NM_014112.5(TRPS1):c.-470T>C SNV Likely Benign
361648 rs567007790 GRCh37: 8:116681120-116681120
GRCh38: 8:115668893-115668893
20 TRPS1 NM_014112.5(TRPS1):c.*5300_*5303del DEL Likely Benign
361510 rs564851438 GRCh37: 8:116420948-116420951
GRCh38: 8:115408720-115408723
21 TRPS1 NM_014112.5(TRPS1):c.2701-9_2701-8del DEL Likely Benign
361611 rs368655299 GRCh37: 8:116430688-116430689
GRCh38: 8:115418460-115418461

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 8.92 TRPS1 EXT1

Sources for Trichorhinophalangeal Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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