TRPS1
MCID: TRC092
MIFTS: 54

Trichorhinophalangeal Syndrome, Type I (TRPS1)

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

Aliases & Classifications for Trichorhinophalangeal Syndrome, Type I

MalaCards integrated aliases for Trichorhinophalangeal Syndrome, Type I:

Name: Trichorhinophalangeal Syndrome, Type I 57 13 44
Trichorhinophalangeal Dysplasia Type I 12 43 29 6 70
Trichorhinophalangeal Syndrome Type I 12 43 72 15
Trps1 57 20 43 72
Trichorhinophalangeal Syndrome Type 1 12 20
Trps I 57 43
Trichorhinophalangeal Syndrome, Type Iii 70
Syndrome, Trichorhinophalangeal, Type I 39
Type I Trichorhinophalangeal Syndrome 12
Tricho-Rhino-Phalangeal Syndrome 1 72
Giedion Syndrome 20
Trp Syndrome 43

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
cone-shaped epiphyses usually not present before age 2 years
allelic to trichorhinophalangeal syndrome, type iii (trps3, )
trps2 (langer-giedion syndrome, ) is a microdeletion syndrome involving deletions of both trps1 and ext1 genes


HPO:

31
trichorhinophalangeal syndrome, type i:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Trichorhinophalangeal Syndrome, Type I

MedlinePlus Genetics : 43 Trichorhinophalangeal syndrome type I (TRPS I) is a condition that causes bone and joint malformations; distinctive facial features; and abnormalities of the skin, hair, teeth, sweat glands, and nails. The name of the condition describes some of the areas of the body that are commonly affected: hair (tricho-), nose (rhino-), and fingers and toes (phalangeal).In people with TRPS I, the ends (epiphyses) of one or more bones in the fingers or toes are abnormally cone-shaped. Additionally, the fingernails and toenails are typically thin and abnormally formed. Affected individuals often have short feet.Individuals with TRPS I may have a misalignment of the hip joints (hip dysplasia), which often develops in early adulthood but can occur in infancy or childhood. Children with TRPS I often have an unusually large range of movement (hypermobility) in many of their joints. Over time, however, the joints may break down (degenerate), leading to joint pain and a limited range of joint movement.The characteristic appearance of individuals with TRPS I involves thick eyebrows; a broad nose with a rounded tip; large ears, a long, smooth area between the nose and the upper lip (philtrum); a thin upper lip; and small teeth that are either decreased (oligodontia) or increased (supernumerary) in number. Almost all affected individuals have sparse scalp hair. Males are particularly affected by hair loss with many being nearly or completely bald soon after puberty. Some children with this condition have loose skin, but the skin becomes tighter over time. Individuals with TRPS I may experience excessive sweating (hyperhidrosis).

MalaCards based summary : Trichorhinophalangeal Syndrome, Type I, also known as trichorhinophalangeal dysplasia type i, is related to trichorhinophalangeal syndrome and cornelia de lange syndrome 4 with or without midline brain defects, and has symptoms including koilonychia and thin, sparse hair. An important gene associated with Trichorhinophalangeal Syndrome, Type I is TRPS1 (Transcriptional Repressor GATA Binding 1), and among its related pathways/superpathways are DNA Damage Response and Integrated Breast Cancer Pathway. Affiliated tissues include breast, bone and prostate, and related phenotypes are scoliosis and osteopenia

Disease Ontology : 12 A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).

GARD : 20 Trichorhinophalangeal syndrome type 1 (TRPS1) is an extremely rare inherited multisystem disorder. TRPS1 is characterized by a distinctive facial appearance that includes sparse scalp hair; a rounded nose; a long, flat area between the nose and the upper lip (philtrum); and a thin upper lip. Individuals with this condition also have skeletal abnormalities such as cone-shaped epiphyses in their fingers and toes and short stature. The range and severity of symptoms may vary from case to case. Transmission of TRPS1 is autosomal dominant, linked to mutations in the TRPS1 gene localized to 8q24.12.

OMIM® : 57 Trichorhinophalangeal syndrome type I (TRPS1) is an autosomal dominant malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature (summary by Momeni et al., 2000). (190350) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Tricho-rhino-phalangeal syndrome 1: Autosomal dominant disorder characterized by craniofacial and skeletal abnormalities. It is allelic with tricho-rhino-phalangeal type 3. Typical features include sparse scalp hair, a bulbous tip of the nose, protruding ears, a long flat philtrum and a thin upper vermilion border. Skeletal defects include cone-shaped epiphyses at the phalanges, hip malformations and short stature.

Related Diseases for Trichorhinophalangeal Syndrome, Type I

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, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 237)
# Related Disease Score Top Affiliating Genes
1 trichorhinophalangeal syndrome 31.8 TRPS1 EXT1
2 cornelia de lange syndrome 4 with or without midline brain defects 31.6 TRPS1 EXT1
3 trichorhinophalangeal syndrome, type iii 30.5 TRPS1 EXT1
4 trichorhinophalangeal syndrome, type ii 30.3 TRPS1 IKZF1 EXT1
5 prostate cancer 29.8 ZEB1 TRPS1 MIR222 MIR221 MIR181A1 MIR10B
6 renal cell carcinoma, nonpapillary 28.8 ZEB2 MIR221 MIR212 MIR103A1 CDKN1B CDH1
7 leukemia, acute myeloid 28.2 MIR222 MIR221 MIR212 MIR181A1 IKZF1 ESR1
8 ovarian cancer 27.7 ZEB2 ZEB1 MIR222 MIR221 MIR10B ESR1
9 hepatocellular carcinoma 27.5 ZEB2 ZEB1 MIR222 MIR221 MIR212 MIR181A1
10 schinzel-giedion midface retraction syndrome 11.9
11 craniosynostosis 11.1
12 alopecia areata 11.1
13 setbp1 disorder 11.0
14 hypertrichosis 11.0
15 orthostatic intolerance 11.0
16 cornelia de lange syndrome 11.0
17 hereditary multiple exostoses 11.0
18 ossifying fibroma 11.0
19 pseudohypoparathyroidism 11.0
20 hypertrichosis universalis congenita, ambras type 10.9
21 neonatal respiratory failure 10.9
22 subependymoma 10.9
23 hypertension and brachydactyly syndrome 10.8
24 craniosynostosis 1 10.8
25 retinitis pigmentosa 56 10.8
26 dopamine beta-hydroxylase deficiency 10.8
27 fitzsimmons syndrome 10.8
28 hydronephrosis 10.4
29 alopecia 10.4
30 teratoma 10.2
31 ectodermal dysplasia 10.2
32 miyoshi muscular dystrophy 1 10.2 MIR222 MIR221
33 lung leiomyoma 10.2 MIR221 ESR1
34 thyroid gland disease 10.2 MIR222 MIR221 MIR181A1
35 hypertelorism 10.2
36 mental retardation, autosomal dominant 29 10.2
37 sacrococcygeal teratoma 10.2
38 breast cancer 10.1
39 exostoses, multiple, type i 10.1
40 tibial hemimelia 10.1
41 west syndrome 10.1
42 hydrocephalus 10.1
43 hereditary multiple osteochondromas 10.1
44 intellectual disability-expressive aphasia-facial dysmorphism syndrome 10.1
45 osteogenic sarcoma 10.1
46 chiari malformation type i 10.1
47 legg-calve-perthes disease 10.1
48 systemic lupus erythematosus 10.1
49 syringomyelia, noncommunicating isolated 10.1
50 polydactyly 10.1

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



Diseases related to Trichorhinophalangeal Syndrome, Type I

Symptoms & Phenotypes for Trichorhinophalangeal Syndrome, Type I

Human phenotypes related to Trichorhinophalangeal Syndrome, Type I:

31 (show all 45)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 osteopenia 31 HP:0000938
3 hyperlordosis 31 HP:0003307
4 delayed skeletal maturation 31 HP:0002750
5 narrow palate 31 HP:0000189
6 macrotia 31 HP:0000400
7 dental malocclusion 31 HP:0000689
8 recurrent respiratory infections 31 HP:0002205
9 carious teeth 31 HP:0000670
10 pectus carinatum 31 HP:0000768
11 pes planus 31 HP:0001763
12 short stature 31 HP:0004322
13 microdontia 31 HP:0000691
14 micrognathia 31 HP:0000347
15 scapular winging 31 HP:0003691
16 arthralgia 31 HP:0002829
17 delayed eruption of teeth 31 HP:0000684
18 thin upper lip vermilion 31 HP:0000219
19 long philtrum 31 HP:0000343
20 protruding ear 31 HP:0000411
21 deep philtrum 31 HP:0002002
22 fine hair 31 HP:0002213
23 osteoarthritis 31 HP:0002758
24 short metacarpal 31 HP:0010049
25 sparse lateral eyebrow 31 HP:0005338
26 abnormally low-pitched voice 31 HP:0010300
27 sparse hair 31 HP:0008070
28 slow-growing hair 31 HP:0002217
29 concave nail 31 HP:0001598
30 avascular necrosis of the capital femoral epiphysis 31 HP:0005743
31 generalized hypotonia 31 HP:0001290
32 thin nail 31 HP:0001816
33 short metatarsal 31 HP:0010743
34 leukonychia 31 HP:0001820
35 infantile muscular hypotonia 31 HP:0008947
36 flat capital femoral epiphysis 31 HP:0003370
37 coxa magna 31 HP:0003279
38 accelerated bone age after puberty 31 HP:0002805
39 pear-shaped nose 31 HP:0000447
40 thin eyebrow 31 HP:0045074
41 swelling of proximal interphalangeal joints 31 HP:0006253
42 chin with horizontal crease 31 HP:0011823
43 cone-shaped epiphyses of the middle phalanges of the hand 31 HP:0010259
44 ivory epiphyses of the distal phalanges of the hand 31 HP:0010252
45 cone-shaped epiphyses of the proximal phalanges of the hand 31 HP:0010270

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
lordosis

Head And Neck Teeth:
dental malocclusion
carious teeth
small teeth
delayed teeth eruption

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
winged scapulae

Growth Height:
short stature
normal birth length

Skin Nails Hair Hair:
slow-growing hair
thin eyebrows (laterally)
sparse, thin hair

Skeletal Pelvis:
coxa magna
coxa plana
flattened capital femoral epiphyses

Head And Neck Nose:
pear-shaped nose

Neurologic Central Nervous System:
normal intelligence
hypotonia (infancy)

Growth Other:
growth deficiency, mild

Voice:
deep voice

Head And Neck Mouth:
narrow palate
thin upper lip

Respiratory:
recurrent respiratory infections

Skeletal Feet:
pes planus
short metatarsals

Head And Neck Face:
micrognathia
prominent, long philtrum
horizontal groove on chin

Skin Nails Hair Nails:
leukonychia
koilonychia
thin nails

Skeletal:
accelerated bone age after puberty
delayed bone age before puberty
osteopenia (late-onset)
osteoarthritis (late-onset)
joint pain (late-onset)

Skeletal Hands:
swelling of proximal interphalangeal joints
short metacarpals
cone-shaped epiphyses of middle and proximal phalanges (2nd, 3rd, 4th fingers)
eburnated epiphyses of distal phalanges (2-4-5)

Head And Neck Ears:
large prominent ears

Head And Neck Eyes:
thin eyebrows (laterally)

Clinical features from OMIM®:

190350 (Updated 05-Apr-2021)

UMLS symptoms related to Trichorhinophalangeal Syndrome, Type I:


koilonychia; thin, sparse hair

MGI Mouse Phenotypes related to Trichorhinophalangeal Syndrome, Type I:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.86 CDH1 CDKN1B ESR1 EXT1 IKZF1 STARD10
2 integument MP:0010771 9.76 CDH1 CDKN1B ESR1 EXT1 IKZF1 TRPS1
3 neoplasm MP:0002006 9.43 CDH1 CDKN1B ESR1 EXT1 IKZF1 ZEB1
4 no phenotypic analysis MP:0003012 9.1 CDH1 CDKN1B ESR1 EXT1 IKZF1 ZEB2

Drugs & Therapeutics for Trichorhinophalangeal Syndrome, Type I

Search Clinical Trials , NIH Clinical Center for Trichorhinophalangeal Syndrome, Type I

Cochrane evidence based reviews: trichorhinophalangeal syndrome, type i

Genetic Tests for Trichorhinophalangeal Syndrome, Type I

Genetic tests related to Trichorhinophalangeal Syndrome, Type I:

# Genetic test Affiliating Genes
1 Trichorhinophalangeal Dysplasia Type I 29 TRPS1

Anatomical Context for Trichorhinophalangeal Syndrome, Type I

MalaCards organs/tissues related to Trichorhinophalangeal Syndrome, Type I:

40
Breast, Bone, Prostate, Heart, Kidney, Skin, Bone Marrow

Publications for Trichorhinophalangeal Syndrome, Type I

Articles related to Trichorhinophalangeal Syndrome, Type I:

(show top 50) (show all 293)
# Title Authors PMID Year
1
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. 6 61 57
11112658 2001
2
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. 6 57 61
10615131 2000
3
Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report. 61 6
30541476 2018
4
A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report. 61 6
28468609 2017
5
Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization. 61 6
27826100 2017
6
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype. 61 6
28050602 2017
7
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events. 61 57
27133561 2016
8
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 61 6
25792522 2015
9
Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation. 61 6
24502542 2014
10
Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells. 61 6
23451857 2013
11
Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency. 61 6
22964620 2012
12
Tricho-rhino-phalangeal syndrome with supernumerary teeth. 61 6
18946009 2008
13
Tricho-rhino-phalangeal type I syndrome and mental retardation: identification of a novel mutation in the TRPS1 gene. 61 6
17689056 2007
14
Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal. 6 61
14560312 2004
15
A nonsense mutation in TRPS1 in a Japanese family with tricho-rhino-phalangeal syndrome type I. 6 61
11359471 2001
16
A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1). 57 61
8530105 1995
17
8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I. 57 61
3490425 1986
18
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing. 6
28170084 2017
19
Painless lumps in the proximal interphalangeal joints in tricho-rhino-phalangeal syndrome type 1. 6
26113321 2015
20
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 6
26380986 2015
21
Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays. 6
21850686 2011
22
Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood. 57
20635356 2010
23
The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions. 57
9150732 1997
24
Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome. 57
7711731 1995
25
Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24. 57
8465849 1993
26
Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion. 57
2373110 1990
27
Partial trisomy of distal 8q derived from mother with mosaic 8q23.3----24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I. 57
2722199 1989
28
Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q. 57
2773990 1989
29
Prometaphase chromosomes in the tricho-rhino-phalangeal syndrome type I. 57
2773997 1989
30
Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13. 57
2784939 1989
31
Spastic paraplegia associated with brachydactyly and cone shaped epiphyses. 57
3430547 1987
32
A final word on the tricho-rhino-phalangeal syndromes. 57
3594935 1987
33
Tricho-rhino-phalangeal syndrome without exostoses, wih an interstitial deletion of 8q23. 57
3742850 1986
34
The tricho-rhino-phalangeal syndrome. A report of 14 cases in 7 kindreds. 57
3958020 1986
35
Complex translocation in a boy with trichorhinophalangeal syndrome. 57
4045963 1985
36
New clinical observations in the trichorhinophalangeal syndrome. 57
7341639 1981
37
The trichorhinophalangeal syndrome. Report of 4 familial cases belonging to 4 generations. 57
7204100 1980
38
Tricho-rhino-phalangeal syndrome in five successive generations: Report on a family in Finland. 57
75637 1978
39
The trichorhinophalangeal syndrome: study of 16 patients in one family. 57
409236 1977
40
The tricho-rhino-phalangeal syndrome. 57
861178 1977
41
The tricho-rhino-phalangeal syndrome. 57
4431036 1974
42
Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases. 57
4723882 1973
43
Tricho-rhino-phalangeal dysplasia. Report of a kindred. 57
4283755 1973
44
[Tricho-rhino-phalangeal syndrome]. 57
5991804 1966
45
The syndrome of brachymetacarpal dwarfism (pseudo-pseudohypoparathyroidism) with and without gonadal dysgenesis. 57
13621640 1959
46
TRPS1: a highly sensitive and specific marker for breast carcinoma, especially for triple-negative breast cancer. 61
33011748 2021
47
Novel mutation of TRPS1 in a patient with tricho-rhino-phalangeal syndrome. 61
32844440 2021
48
TRPS1 drives heterochromatic origin refiring and cancer genome evolution. 61
33691114 2021
49
Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology. 61
32277046 2020
50
Trps1 transcription factor represses phosphate-induced expression of SerpinB2 in osteogenic cells. 61
33022456 2020

Variations for Trichorhinophalangeal Syndrome, Type I

ClinVar genetic disease variations for Trichorhinophalangeal Syndrome, Type I:

6 (show top 50) (show all 121)
# 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 and overlap with 1 gene(s) NG_012383.3:g.(87002_255549)_(259980_?)del Deletion Pathogenic 438459 GRCh37:
GRCh38: 8:115414022-115587000
24 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
25 TRPS1 NM_014112.4(TRPS1):c.(2823+1_2824-1)_(*1_?)del Deletion Pathogenic 438469 GRCh37: 8:116426250-116430557
GRCh38: 8:115414022-115418329
26 overlap with 54 genes Deletion Pathogenic 599306 GRCh37: 8:114508086-129040004
GRCh38:
27 TRPS1 NM_014112.5(TRPS1):c.2979_2980AG[1] (p.Glu994fs) Microsatellite Pathogenic 438471 rs1554617011 GRCh37: 8:116427152-116427155
GRCh38: 8:115414924-115414927
28 TRPS1 NC_000008.10:g.(?_116426231)_(116635884_?)del Deletion Pathogenic 583713 GRCh37: 8:116426231-116635884
GRCh38:
29 TRPS1 NC_000008.10:g.(?_116616080)_(116635884_?)dup Duplication Pathogenic 584199 GRCh37: 8:116616080-116635884
GRCh38: 8:115603853-115623657
30 TRPS1 NM_014112.5(TRPS1):c.2700+1G>A SNV Pathogenic 649585 rs1586430684 GRCh37: 8:116599227-116599227
GRCh38: 8:115587000-115587000
31 TRPS1 NM_014112.5(TRPS1):c.489_492del (p.Glu165fs) Deletion Pathogenic 652109 rs1586464368 GRCh37: 8:116631833-116631836
GRCh38: 8:115619606-115619609
32 TRPS1 NM_014112.5(TRPS1):c.2641C>T (p.Gln881Ter) SNV Pathogenic 655892 rs1156330285 GRCh37: 8:116599287-116599287
GRCh38: 8:115587060-115587060
33 TRPS1 NM_014112.5(TRPS1):c.2337_2338GA[3] (p.Lys782fs) Microsatellite Pathogenic 659289 rs1586431452 GRCh37: 8:116599584-116599585
GRCh38: 8:115587357-115587358
34 TRPS1 NM_014112.5(TRPS1):c.2880del (p.Arg961fs) Deletion Pathogenic 660864 rs1586250578 GRCh37: 8:116427256-116427256
GRCh38: 8:115415028-115415028
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 NM_014112.5(TRPS1):c.1649_1650del (p.Gly550fs) Deletion Pathogenic 468199 rs1554596063 GRCh37: 8:116616546-116616547
GRCh38: 8:115604319-115604320
40 TRPS1 NM_014112.5(TRPS1):c.2195_2204del (p.Gln732fs) Deletion Pathogenic 536120 rs1554593085 GRCh37: 8:116599724-116599733
GRCh38: 8:115587497-115587506
41 TRPS1 NM_014112.5(TRPS1):c.2110del (p.Cys704fs) Deletion Pathogenic 694692 rs1586431903 GRCh37: 8:116599818-116599818
GRCh38: 8:115587591-115587591
42 TRPS1 NM_014112.5(TRPS1):c.2666del (p.Asn889fs) Deletion Pathogenic 692064 rs1586430715 GRCh37: 8:116599262-116599262
GRCh38: 8:115587035-115587035
43 TRPS1 NM_014112.5(TRPS1):c.3698G>A (p.Cys1233Tyr) SNV Pathogenic 635360 rs1586249260 GRCh37: 8:116426438-116426438
GRCh38: 8:115414210-115414210
44 TRPS1 NM_014112.5(TRPS1):c.2892_2899dup (p.Asn967fs) Duplication Pathogenic 620586 rs1563714392 GRCh37: 8:116427236-116427237
GRCh38: 8:115415008-115415009
45 TRPS1 NC_000008.11:g.(?_115586981)_(115587624_?)del Deletion Pathogenic 831201 GRCh37: 8:116599208-116599851
GRCh38:
46 TRPS1 NM_014112.5(TRPS1):c.1176_1179del (p.Asn393fs) Deletion Pathogenic 839906 GRCh37: 8:116617017-116617020
GRCh38: 8:115604790-115604793
47 TRPS1 NM_014112.5(TRPS1):c.2956_2960dup (p.Val988fs) Duplication Pathogenic 846686 GRCh37: 8:116427175-116427176
GRCh38: 8:115414947-115414948
48 TRPS1 NM_014112.5(TRPS1):c.1427dup (p.Ser477fs) Duplication Pathogenic 934651 GRCh37: 8:116616768-116616769
GRCh38: 8:115604541-115604542
49 TRPS1 NM_014112.5(TRPS1):c.3461dup (p.Tyr1154Ter) Duplication Pathogenic 938680 GRCh37: 8:116426674-116426675
GRCh38: 8:115414446-115414447
50 TRPS1 NM_014112.5(TRPS1):c.1180A>T (p.Lys394Ter) SNV Pathogenic 948294 GRCh37: 8:116617016-116617016
GRCh38: 8:115604789-115604789

UniProtKB/Swiss-Prot genetic disease variations for Trichorhinophalangeal Syndrome, Type I:

72
# Symbol AA change Variation ID SNP ID
1 TRPS1 p.Arg952Cys VAR_038198 rs28939069
2 TRPS1 p.Arg952His VAR_038199 rs28939070

Expression for Trichorhinophalangeal Syndrome, Type I

Search GEO for disease gene expression data for Trichorhinophalangeal Syndrome, Type I.

Pathways for Trichorhinophalangeal Syndrome, Type I

Pathways related to Trichorhinophalangeal Syndrome, Type I according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.99 MIR222 MIR221 MIR181A1 CDKN1B
2 11.73 FOSL1 ESR1 CDH1
3 11.72 ZEB2 ZEB1 MIR222 MIR221 MIR181A1 MIR10B
4 11.11 MIR221 MIR181A1 IKZF1
5 10.96 MIR222 MIR221 MIR181A1 CDKN1B
6 10.91 MIR222 MIR221 MIR181A1

GO Terms for Trichorhinophalangeal Syndrome, Type I

Cellular components related to Trichorhinophalangeal Syndrome, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular vesicle GO:1903561 9.13 MIR222 MIR221 MIR103A1
2 chromatin GO:0000785 9.1 ZEB2 ZEB1 TRPS1 IKZF1 FOSL1 ESR1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 gene silencing by miRNA GO:0035195 9.73 MIR222 MIR221 MIR212 MIR181A1 MIR10B MIR103A1
2 negative regulation of inflammatory response GO:0050728 9.7 MIR222 MIR221 MIR181A1
3 negative regulation of cell adhesion molecule production GO:0060354 9.51 MIR222 MIR221
4 cellular response to lithium ion GO:0071285 9.49 CDKN1B CDH1
5 positive regulation of axon regeneration GO:0048680 9.48 MIR222 MIR221
6 negative regulation by host of viral genome replication GO:0044828 9.46 MIR222 MIR221
7 negative regulation of leukocyte adhesion to vascular endothelial cell GO:1904995 9.43 MIR222 MIR221
8 negative regulation of interleukin-21 production GO:0032705 9.4 MIR222 MIR221
9 negative regulation of TRAIL-activated apoptotic signaling pathway GO:1903122 9.37 MIR222 MIR221
10 positive regulation of Schwann cell migration GO:1900149 9.32 MIR222 MIR221
11 positive regulation of Schwann cell proliferation involved in axon regeneration GO:1905046 9.16 MIR222 MIR221
12 miRNA mediated inhibition of translation GO:0035278 9.1 MIR222 MIR221 MIR212 MIR181A1 MIR10B MIR103A1
13 negative regulation of hematopoietic stem cell proliferation GO:1902034 8.96 MIR222 MIR221

Molecular functions related to Trichorhinophalangeal Syndrome, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.35 ZEB1 TRPS1 IKZF1 FOSL1 ESR1
2 mRNA 3'-UTR binding GO:0003730 9.33 MIR181A1 MIR10B MIR103A1
3 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.1 MIR222 MIR221 MIR212 MIR181A1 MIR10B MIR103A1

Sources for Trichorhinophalangeal Syndrome, Type I

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
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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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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