MCID: TRC104
MIFTS: 23

Trichorhinophalangeal Syndrome Type 1 and 3

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

Aliases & Classifications for Trichorhinophalangeal Syndrome Type 1 and 3

MalaCards integrated aliases for Trichorhinophalangeal Syndrome Type 1 and 3:

Name: Trichorhinophalangeal Syndrome Type 1 and 3 58

Characteristics:

Orphanet epidemiological data:

58
trichorhinophalangeal syndrome type 1 and 3
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:

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


Summaries for Trichorhinophalangeal Syndrome Type 1 and 3

MalaCards based summary : Trichorhinophalangeal Syndrome Type 1 and 3 An important gene associated with Trichorhinophalangeal Syndrome Type 1 and 3 is TRPS1 (Transcriptional Repressor GATA Binding 1). Related phenotypes are frontal bossing and macrotia

Related Diseases for Trichorhinophalangeal Syndrome Type 1 and 3

Symptoms & Phenotypes for Trichorhinophalangeal Syndrome Type 1 and 3

Human phenotypes related to Trichorhinophalangeal Syndrome Type 1 and 3:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
5 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
6 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
7 protruding ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000411
8 bulbous nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000414
9 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
10 triangular face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000325
11 short metacarpal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010049
12 cone-shaped epiphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0010579
13 sparse eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000653
14 short metatarsal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010743
15 long upper lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0011341
16 shortening of all phalanges of fingers 58 31 hallmark (90%) Very frequent (99-80%) HP:0011910
17 sparse and thin eyebrow 31 hallmark (90%) HP:0000535
18 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
19 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
20 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
21 pectus carinatum 58 31 frequent (33%) Frequent (79-30%) HP:0000768
22 increased number of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0011069
23 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
24 avascular necrosis of the capital femoral epiphysis 58 31 frequent (33%) Frequent (79-30%) HP:0005743
25 fragile nails 58 31 frequent (33%) Frequent (79-30%) HP:0001808
26 leukonychia 58 31 frequent (33%) Frequent (79-30%) HP:0001820
27 hypotonia 31 frequent (33%) HP:0001252
28 muscular hypotonia 58 Frequent (79-30%)
29 abnormality of the dentition 58 Frequent (79-30%)
30 sparse hair 58 Very frequent (99-80%)
31 sparse eyebrow 58 Very frequent (99-80%)

Drugs & Therapeutics for Trichorhinophalangeal Syndrome Type 1 and 3

Search Clinical Trials , NIH Clinical Center for Trichorhinophalangeal Syndrome Type 1 and 3

Genetic Tests for Trichorhinophalangeal Syndrome Type 1 and 3

Anatomical Context for Trichorhinophalangeal Syndrome Type 1 and 3

Publications for Trichorhinophalangeal Syndrome Type 1 and 3

Articles related to Trichorhinophalangeal Syndrome Type 1 and 3:

(show all 20)
# Title Authors PMID Year
1
Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report. 6
30541476 2018
2
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing. 6
28170084 2017
3
A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report. 6
28468609 2017
4
Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization. 6
27826100 2017
5
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype. 6
28050602 2017
6
Painless lumps in the proximal interphalangeal joints in tricho-rhino-phalangeal syndrome type 1. 6
26113321 2015
7
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 6
25792522 2015
8
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 6
26380986 2015
9
Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation. 6
24502542 2014
10
Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells. 6
23451857 2013
11
Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency. 6
22964620 2012
12
Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays. 6
21850686 2011
13
Tricho-rhino-phalangeal syndrome with supernumerary teeth. 6
18946009 2008
14
Tricho-rhino-phalangeal type I syndrome and mental retardation: identification of a novel mutation in the TRPS1 gene. 6
17689056 2007
15
Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal. 6
14560312 2004
16
Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III. 6
11807863 2002
17
Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes. 6
11950061 2002
18
A nonsense mutation in TRPS1 in a Japanese family with tricho-rhino-phalangeal syndrome type I. 6
11359471 2001
19
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. 6
11112658 2001
20
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. 6
10615131 2000

Variations for Trichorhinophalangeal Syndrome Type 1 and 3

ClinVar genetic disease variations for Trichorhinophalangeal Syndrome Type 1 and 3:

6 (show top 50) (show all 124)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRPS1 NM_014112.5(TRPS1):c.1053C>A (p.Cys351Ter) SNV Pathogenic 5569 rs121908430 GRCh37: 8:116617143-116617143
GRCh38: 8:115604916-115604916
2 TRPS1 TRPS1, 1-BP INS, 2406G Insertion Pathogenic 5571 GRCh37:
GRCh38:
3 TRPS1 TRPS1, 1-BP INS, 2441T Insertion Pathogenic 5572 GRCh37:
GRCh38:
4 TRPS1 TRPS1, 4-BP INS, 3360GGAG Insertion Pathogenic 5574 GRCh37:
GRCh38:
5 TRPS1 NM_014112.5(TRPS1):c.3315C>G (p.Tyr1105Ter) SNV Pathogenic 5576 rs121908434 GRCh37: 8:116426821-116426821
GRCh38: 8:115414593-115414593
6 TRPS1 NM_014112.5(TRPS1):c.1693C>T (p.Gln565Ter) SNV Pathogenic 208170 rs864621974 GRCh37: 8:116616503-116616503
GRCh38: 8:115604276-115604276
7 TRPS1 NM_014112.5(TRPS1):c.3424del (p.Ser1142fs) Deletion Pathogenic 438474 rs1554616802 GRCh37: 8:116426712-116426712
GRCh38: 8:115414484-115414484
8 TRPS1 NM_014112.5(TRPS1):c.2353_2354GA[1] (p.Lys786fs) Microsatellite Pathogenic 438457 rs1554592995 GRCh37: 8:116599572-116599573
GRCh38: 8:115587345-115587346
9 TRPS1 and overlap with 1 gene(s) NG_012383.3:g.(70130_86397)_(87002_255549)dup Duplication Pathogenic 438454 GRCh37: 8:116469546-116616099
GRCh38: 8:115418453-115603872
10 TRPS1 NM_014112.5(TRPS1):c.2852_2859dup (p.Gly954fs) Duplication Pathogenic 438470 rs1554617078 GRCh37: 8:116427276-116427277
GRCh38: 8:115415048-115415049
11 TRPS1 NM_014112.5(TRPS1):c.2824-23T>G SNV Pathogenic 438468 rs752405769 GRCh37: 8:116427335-116427335
GRCh38: 8:115415107-115415107
12 TRPS1 NM_014112.5(TRPS1):c.1460del (p.Lys487fs) Deletion Pathogenic 438451 rs1554596193 GRCh37: 8:116616736-116616736
GRCh38: 8:115604509-115604509
13 TRPS1 inv(8)(q13q24.1) Inversion Pathogenic 438475 GRCh37:
GRCh38:
14 TRPS1 NM_014112.5(TRPS1):c.2394dup (p.Ser799fs) Duplication Pathogenic 438458 rs1554592981 GRCh37: 8:116599533-116599534
GRCh38: 8:115587306-115587307
15 TRPS1 NM_014112.5(TRPS1):c.3077del (p.Ser1026fs) Deletion Pathogenic 438472 rs1554616971 GRCh37: 8:116427059-116427059
GRCh38: 8:115414831-115414831
16 TRPS1 NM_014112.5(TRPS1):c.1010_1014dup (p.Cys339fs) Duplication Pathogenic 438446 rs1554596430 GRCh37: 8:116617181-116617182
GRCh38: 8:115604954-115604955
17 TRPS1 NM_014112.5(TRPS1):c.2783_2784insC (p.Val929fs) Insertion Pathogenic 438465 rs1554617567 GRCh37: 8:116430597-116430598
GRCh38: 8:115418369-115418370
18 TRPS1 NM_014112.5(TRPS1):c.2179_2180del (p.Val727fs) Deletion Pathogenic 438456 rs1554593099 GRCh37: 8:116599748-116599749
GRCh38: 8:115587521-115587522
19 TRPS1 NM_014112.5(TRPS1):c.3140del (p.Pro1047fs) Deletion Pathogenic 438473 rs1554616950 GRCh37: 8:116426996-116426996
GRCh38: 8:115414768-115414768
20 TRPS1 inv(8)(q21.1q24.1) Inversion Pathogenic 438476 GRCh37:
GRCh38:
21 TRPS1 NM_014112.5(TRPS1):c.1231dup (p.Gln411fs) Duplication Pathogenic 438450 rs1554596300 GRCh37: 8:116616964-116616965
GRCh38: 8:115604737-115604738
22 TRPS1 NM_014112.5(TRPS1):c.2823+1G>T SNV Pathogenic 438467 rs1554617549 GRCh37: 8:116430557-116430557
GRCh38: 8:115418329-115418329
23 TRPS1 NM_014112.5(TRPS1):c.2892_2899dup (p.Asn967fs) Duplication Pathogenic 620586 rs1563714392 GRCh37: 8:116427236-116427237
GRCh38: 8:115415008-115415009
24 TRPS1 NM_014112.5(TRPS1):c.3698G>A (p.Cys1233Tyr) SNV Pathogenic 635360 rs1586249260 GRCh37: 8:116426438-116426438
GRCh38: 8:115414210-115414210
25 TRPS1 NM_014112.5(TRPS1):c.2666del (p.Asn889fs) Deletion Pathogenic 692064 rs1586430715 GRCh37: 8:116599262-116599262
GRCh38: 8:115587035-115587035
26 TRPS1 NM_014112.5(TRPS1):c.2110del (p.Cys704fs) Deletion Pathogenic 694692 rs1586431903 GRCh37: 8:116599818-116599818
GRCh38: 8:115587591-115587591
27 TRPS1 and overlap with 1 gene(s) NG_012383.3:g.(87002_255549)_(259980_?)del Deletion Pathogenic 438459 GRCh37:
GRCh38: 8:115414022-115587000
28 TRPS1 and overlap with 1 gene(s) NG_012383.3:g.(70130_86397)_(87002_255549)del Deletion Pathogenic 438455 GRCh37: 8:116469546-116616099
GRCh38: 8:115418453-115603872
29 TRPS1 NM_014112.4(TRPS1):c.(2823+1_2824-1)_(*1_?)del Deletion Pathogenic 438469 GRCh37: 8:116426250-116430557
GRCh38: 8:115414022-115418329
30 TRPS1 NM_014112.5(TRPS1):c.2740A>C (p.Thr914Pro) SNV Pathogenic 5575 rs121908433 GRCh37: 8:116430641-116430641
GRCh38: 8:115418413-115418413
31 TRPS1 NM_014112.5(TRPS1):c.2979_2980AG[1] (p.Glu994fs) Microsatellite Pathogenic 438471 rs1554617011 GRCh37: 8:116427152-116427155
GRCh38: 8:115414924-115414927
32 overlap with 54 genes Deletion Pathogenic 599306 GRCh37: 8:114508086-129040004
GRCh38:
33 TRPS1 NM_014112.5(TRPS1):c.1649_1650del (p.Gly550fs) Deletion Pathogenic 468199 rs1554596063 GRCh37: 8:116616546-116616547
GRCh38: 8:115604319-115604320
34 TRPS1 NM_014112.5(TRPS1):c.2195_2204del (p.Gln732fs) Deletion Pathogenic 536120 rs1554593085 GRCh37: 8:116599724-116599733
GRCh38: 8:115587497-115587506
35 TRPS1 NM_014112.5(TRPS1):c.2568T>G (p.Tyr856Ter) SNV Pathogenic 568409 rs1563623987 GRCh37: 8:116599360-116599360
GRCh38: 8:115587133-115587133
36 TRPS1 NM_014112.5(TRPS1):c.2086C>T (p.Arg696Ter) SNV Pathogenic 574440 rs368166434 GRCh37: 8:116616110-116616110
GRCh38: 8:115603883-115603883
37 TRPS1 NM_014112.5(TRPS1):c.1695_1705del (p.Gln565fs) Deletion Pathogenic 574745 rs1563637033 GRCh37: 8:116616491-116616501
GRCh38: 8:115604264-115604274
38 TRPS1 NM_014112.5(TRPS1):c.1014_1017dup (p.Gln340fs) Duplication Pathogenic 579060 rs1563638577 GRCh37: 8:116617178-116617179
GRCh38: 8:115604951-115604952
39 TRPS1 NC_000008.10:g.(?_116426231)_(116635884_?)del Deletion Pathogenic 583713 GRCh37: 8:116426231-116635884
GRCh38:
40 TRPS1 NC_000008.10:g.(?_116616080)_(116635884_?)dup Duplication Pathogenic 584199 GRCh37: 8:116616080-116635884
GRCh38: 8:115603853-115623657
41 TRPS1 NM_014112.5(TRPS1):c.2700+1G>A SNV Pathogenic 649585 rs1586430684 GRCh37: 8:116599227-116599227
GRCh38: 8:115587000-115587000
42 TRPS1 NM_014112.5(TRPS1):c.489_492del (p.Glu165fs) Deletion Pathogenic 652109 rs1586464368 GRCh37: 8:116631833-116631836
GRCh38: 8:115619606-115619609
43 TRPS1 NM_014112.5(TRPS1):c.2641C>T (p.Gln881Ter) SNV Pathogenic 655892 rs1156330285 GRCh37: 8:116599287-116599287
GRCh38: 8:115587060-115587060
44 TRPS1 NM_014112.5(TRPS1):c.2337_2338GA[3] (p.Lys782fs) Microsatellite Pathogenic 659289 rs1586431452 GRCh37: 8:116599584-116599585
GRCh38: 8:115587357-115587358
45 TRPS1 NM_014112.5(TRPS1):c.2880del (p.Arg961fs) Deletion Pathogenic 660864 rs1586250578 GRCh37: 8:116427256-116427256
GRCh38: 8:115415028-115415028
46 TRPS1 NC_000008.11:g.(?_115586981)_(115587624_?)del Deletion Pathogenic 831201 GRCh37: 8:116599208-116599851
GRCh38:
47 TRPS1 NM_014112.5(TRPS1):c.1176_1179del (p.Asn393fs) Deletion Pathogenic 839906 GRCh37: 8:116617017-116617020
GRCh38: 8:115604790-115604793
48 TRPS1 NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter) SNV Pathogenic 5570 rs121908431 GRCh37: 8:116616326-116616326
GRCh38: 8:115604099-115604099
49 TRPS1 NM_014112.5(TRPS1):c.2557C>T (p.Arg853Ter) SNV Pathogenic 5573 rs121908432 GRCh37: 8:116599371-116599371
GRCh38: 8:115587144-115587144
50 TRPS1 NM_014112.5(TRPS1):c.2762G>A (p.Arg921Gln) SNV Pathogenic 5577 rs121908435 GRCh37: 8:116430619-116430619
GRCh38: 8:115418391-115418391

Expression for Trichorhinophalangeal Syndrome Type 1 and 3

Search GEO for disease gene expression data for Trichorhinophalangeal Syndrome Type 1 and 3.

Pathways for Trichorhinophalangeal Syndrome Type 1 and 3

GO Terms for Trichorhinophalangeal Syndrome Type 1 and 3

Sources for Trichorhinophalangeal Syndrome Type 1 and 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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