Trichorhinophalangeal Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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

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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:

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Symptoms & Phenotypes for Trichorhinophalangeal Syndrome

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Drugs & Therapeutics for Trichorhinophalangeal Syndrome

Search Clinical Trials, NIH Clinical Center for Trichorhinophalangeal Syndrome

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Genetic Tests for Trichorhinophalangeal Syndrome

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Anatomical Context for Trichorhinophalangeal Syndrome

Organs/tissues related to Trichorhinophalangeal Syndrome:

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

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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	Lubinsky M...Kantaputra PN	27250821	2016
2	Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I. ⁶² ²⁴	de Barros GM...Kakehasi AM	27267340	2016
3	Should Patients with Trichorhinophalangeal Syndrome be Tested for Growth Hormone Deficiency? ⁶² ²⁴	Marques JS...Dias C	26540763	2015
4	Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. ⁶² ²⁴	Maas SM...Hennekam RC	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	Crippa M...Finelli P	24886451	2014
6	Thricho-rhino-phalangeal syndrome and severe osteoporosis: a rare association or a feature? An effective therapeutic approach with biphosphonates. ⁶² ²⁴	Macchiaiolo M...Bartuli A	24357341	2014
7	Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling. ⁶² ²⁴	Corsini C...Genevieve D	23572024	2014
8	Trichorhinophalangeal syndrome type I--clinical, microscopic, and molecular features. ⁶² ²⁴	Jeon J...Oh CH	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	David D...Pinto M	23835950	2013
10	An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy. ⁶² ²⁴	Chen CP...Wang W	23933416	2013
11	Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency. ⁶² ²⁴	Sohn YB...Jin DK	22964620	2012
12	Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I. ⁶² ²⁴	Rue M...Goizet C	21524721	2011
13	A novel mutation in TPRS1 gene caused tricho-rhino-phalangeal syndrome in a Chinese patient with severe osteoporosis. ⁶² ²⁴	Shao C...Zhao JJ	21740822	2011
14	Improved growth and bone mineral density in type I trichorhinophalangeal syndrome in response to growth hormone therapy. ⁶² ²⁴	Sarafoglou K...Miller BS	20569260	2010
15	Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13). ⁶² ²⁴	Shanske AL...Ludecke HJ	19012352	2008
16	Tricho-rhino-phalangeal syndrome with supernumerary teeth. ⁶² ²⁴	Kantaputra P...Sharpe PT	18946009	2008
17	Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome. ⁶² ²⁴	Stagi S...Chiarelli F	18478599	2008
18	Trichorhinophalangeal syndrome. ⁶² ²⁴	Vaccaro M...Blandino A	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	Brenner P...Krause-Bergmann A	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	Riedl S...Ludecke HJ	15523607	2004
21	Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. ⁶² ²⁴	Ludecke HJ...Horsthemke B	11112658	2001
22	Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8. ⁶² ²⁴	Ludecke HJ...Horsthemke B	10647898	1999
23	Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases. ⁶² ²⁴	Giedion A...Trosc V	4723882	1973
24	Tricho-rhino-phalangeal syndrome. ⁶² ²⁴	Gorlin RJ...Wolfson J	5820605	1969
25	[Tricho-rhino-phalangeal syndrome]. ⁶² ²⁴	Giedion A	5991804	1966
26	Management of nerve compression in multiple hereditary exostoses: a report of two cases and review of the literature. ²⁴	Payne R...Rizk E	27444292	2016
27	Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. ²⁴	Ansari M...FitzPatrick DR	25125236	2014
28	RAD21 mutations cause a human cohesinopathy. ²⁴	Deardorff MA...Kaiser FJ	22633399	2012
29	Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood. ²⁴	Izumi K...Neilson DE	20635356	2010
30	Hereditary multiple exostoses. ²⁴	Hennekam RC	1856833	1991
31	Langer-Giedion syndrome. ²⁴	Hall BD...Brandner M	4549298	1974
32	The syndrome of brachymetacarpal dwarfism (pseudo-pseudohypoparathyroidism) with and without gonadal dysgenesis. ²⁴	VAN DER WERFF TEN BOSCH JJ	13621640	1959
33	Trichorhinophalangeal Syndrome Type 1-Positive Cells in Breast Dermal Granulation Tissues and Scars: A Potential Diagnostic Pitfall. ⁶²	Cho WC...Torres-Cabala CA	35925150	2022
34	Utility of TRPS-1 immunohistochemistry in diagnosis of metastatic breast carcinoma in cytology specimens. ⁶²	Abdelwahed M...Khutti S	36055933	2022
35	The diagnostic utility of trichorhinophalangeal syndrome type 1 immunohistochemistry for metastatic breast carcinoma in effusion cytology specimens. ⁶²	Chen CJ...Yang CS	36399408	2022
36	A novel TRPS1 mutation in a Chinese patient with trichorhinophalangeal syndrome type I. ⁶²	Li M...Xiao FL	36376245	2022
37	Potent Activation of Human but Not Mouse TRPA1 by JT010. ⁶²	Matsubara M...Muraki K	36430781	2022
38	Tricho-rhino-phalangeal syndrome - clinical, trichoscopic and radiological images. ⁶²	Rodrigues EF...Romanelli C	36344351	2022
39	Effect of Imidazolium Nitrate Ionic Liquids on Conformational Changes of Poly(N-vinylcaprolactam). ⁶²	Umapathi R...Venkatesu P	36385857	2022
40	BmGr4 responds to sucrose and glucose and expresses in tachykinin-related peptide-secreting enteroendocrine cells. ⁶²	Mang D...Sato R	36244651	2022
41	Transcriptional landscape of TRPV1, TRPA1, TRPV4, and TRPM8 channels throughout human tissues. ⁶²	Kudsi SQ...Trevisan G	36126722	2022
42	Path Analysis Models Integrating Psychological, Psycho-physical and Clinical Variables in Individuals With Tension-Type Headache. ⁶²	Liew BXW...Fernandez-de-Las-Penas C	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	Kashio M...Tominaga M	36042566	2022
44	Tachykinin-related peptides modulate immune-gene expression in the mealworm beetle Tenebrio molitor L. ⁶²	Urbanski A...Rolff J	36241888	2022
45	Intramuscular Electrical Stimulation to Trigger Points: Insights into Mechanisms and Clinical Applications-A Scoping Review. ⁶²	Perreault T...Butts R	36294360	2022
46	Synthesis of Tropine-Based Functionalized Acidic Ionic Liquids and Catalysis of Esterification. ⁶²	Ni H...Luo Y	36361664	2022
47	Characterization of a Novel Frameshift Mutation Within the TRPS1 Gene Causing Trichorhinophalangeal Syndrome Type 1 in a Kindred Cypriot Family. ⁶²	Ergoren MC...Bertelli M	36093893	2022
48	Potential Role of Obstructive Sleep Apnea on Pain Sensitization and Jaw Function in Temporomandibular Disorder Patients. ⁶²	Kang JH...Kim HJ	36217573	2022
49	Evaluation of TRPS1 Expression in Pleural Effusion Cytology Specimens With Metastatic Breast Carcinoma. ⁶²	Wang M...Gilani SM	35760555	2022
50	Functional mechanisms of TRPS1 in disease progression and its potential role in personalized medicine. ⁶²	Yang L...Wang Y	35863130	2022

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Genes for Trichorhinophalangeal Syndrome

Genes related to Trichorhinophalangeal Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TRPS1	Transcriptional Repressor GATA Binding 1	Protein Coding	417.81	Pathogenic ⁵ GeneCards inferred via : Publications Gene name (show sections)
2	EXT1	Exostosin Glycosyltransferase 1	Protein Coding	16.4	GeneCards inferred via : Disorders Publications (show sections)

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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

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Expression for Trichorhinophalangeal Syndrome

Search GEO for disease gene expression data for Trichorhinophalangeal Syndrome.

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Pathways for Trichorhinophalangeal Syndrome

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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

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Sources for Trichorhinophalangeal Syndrome

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⁵¹ NIH Clinical Center

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

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⁷⁰ Tocris

⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

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	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Expand all tables

Trichorhinophalangeal Syndrome (TRPS)

Aliases & Classifications for Trichorhinophalangeal Syndrome

MalaCards integrated aliases for Trichorhinophalangeal Syndrome:

Characteristics:

GeneReviews:

Classifications:

External Ids:

Summaries for Trichorhinophalangeal Syndrome

Related Diseases for Trichorhinophalangeal Syndrome

Diseases in the Trichorhinophalangeal Syndrome family:

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

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

Symptoms & Phenotypes for Trichorhinophalangeal Syndrome

Drugs & Therapeutics for Trichorhinophalangeal Syndrome

Genetic Tests for Trichorhinophalangeal Syndrome

Anatomical Context for Trichorhinophalangeal Syndrome

Organs/tissues related to Trichorhinophalangeal Syndrome:

Publications for Trichorhinophalangeal Syndrome

Articles related to Trichorhinophalangeal Syndrome:

Genes for Trichorhinophalangeal Syndrome

Genes related to Trichorhinophalangeal Syndrome (1 elite genes):

Variations for Trichorhinophalangeal Syndrome

ClinVar genetic disease variations for Trichorhinophalangeal Syndrome:

Expression for Trichorhinophalangeal Syndrome

Pathways for Trichorhinophalangeal Syndrome

GO Terms for Trichorhinophalangeal Syndrome

Biological processes related to Trichorhinophalangeal Syndrome according to GeneCards Suite gene sharing:

Sources for Trichorhinophalangeal Syndrome