TRPS1
MCID: TRC092
MIFTS: 52

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 56 13 43
Trichorhinophalangeal Dysplasia Type I 12 25 29 6 71
Trichorhinophalangeal Syndrome Type I 12 25 73 15
Trps1 56 52 25 73
Trichorhinophalangeal Syndrome Type 1 12 52
Trps I 56 25
Trichorhinophalangeal Syndrome, Type Iii 71
Syndrome, Trichorhinophalangeal, Type I 39
Type I Trichorhinophalangeal Syndrome 12
Tricho-Rhino-Phalangeal Syndrome 1 73
Giedion Syndrome 52
Trp Syndrome 25

Characteristics:

OMIM:

56
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

Genetics Home Reference : 25 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, type iii 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 MicroRNAs in cancer. Affiliated tissues include bone, skin and breast, and related phenotypes are delayed skeletal maturation and narrow palate

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).

NIH Rare Diseases : 52 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 : 56 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)

UniProtKB/Swiss-Prot : 73 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 195)
# Related Disease Score Top Affiliating Genes
1 trichorhinophalangeal syndrome, type iii 34.0 TRPS1 EXT1
2 cornelia de lange syndrome 4 with or without midline brain defects 32.5 TRPS1 EXT1
3 trichorhinophalangeal syndrome 31.9 TRPS1 EXT1
4 prostate cancer 30.4 ZEB1 TRPS1 MIR222 MIR221 MIR212 MIR181A1
5 trichorhinophalangeal syndrome, type ii 30.3 TRPS1 IKZF1 EXT1
6 schinzel-giedion midface retraction syndrome 12.5
7 hypertrichosis 11.6
8 hereditary multiple exostoses 11.6
9 setbp1 disorder 11.6
10 trichorhinophalangeal syndrome type 1 and 3 11.5
11 hypertrichosis universalis congenita, ambras type 11.4
12 neonatal respiratory failure 11.4
13 cornelia de lange syndrome 11.4
14 subependymoma 11.4
15 alopecia areata 11.3
16 pseudohypoparathyroidism 11.3
17 hypertension and brachydactyly syndrome 11.1
18 retinitis pigmentosa 56 11.1
19 hydronephrosis 10.5
20 alopecia 10.4
21 polymyositis 10.3 MIR222 MIR221
22 exostoses, multiple, type i 10.3
23 breast cancer 10.3
24 teratoma 10.2
25 teeth, supernumerary 10.2
26 osteogenic sarcoma 10.2
27 hypertelorism 10.2
28 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
29 ectodermal dysplasia 10.2
30 thyroid gland disease 10.2 MIR222 MIR221 MIR181A1
31 hydrocephalus, congenital, 1 10.1
32 tibial hemimelia 10.1
33 west syndrome 10.1
34 hydrocephalus 10.1
35 hereditary multiple osteochondromas 10.1
36 sacrococcygeal teratoma 10.1
37 renal fibrosis 10.1
38 rickets 10.1
39 ureteral obstruction 10.1
40 miyoshi muscular dystrophy 1 10.1 MIR222 MIR221
41 chromosome 2q35 duplication syndrome 10.0
42 cryptorchidism, unilateral or bilateral 10.0
43 branchiootic syndrome 1 10.0
44 microcephaly 10.0
45 early myoclonic encephalopathy 10.0
46 hepatoblastoma 10.0
47 chromosomal triplication 10.0
48 hemimelia 10.0
49 partial deletion of the long arm of chromosome 8 10.0
50 chiari malformation type i 10.0

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 delayed skeletal maturation 31 HP:0002750
2 narrow palate 31 HP:0000189
3 macrotia 31 HP:0000400
4 scoliosis 31 HP:0002650
5 dental malocclusion 31 HP:0000689
6 recurrent respiratory infections 31 HP:0002205
7 carious teeth 31 HP:0000670
8 pectus carinatum 31 HP:0000768
9 pes planus 31 HP:0001763
10 short stature 31 HP:0004322
11 arthralgia 31 HP:0002829
12 microdontia 31 HP:0000691
13 hyperlordosis 31 HP:0003307
14 osteopenia 31 HP:0000938
15 micrognathia 31 HP:0000347
16 scapular winging 31 HP:0003691
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:

56
Head And Neck Mouth:
narrow palate
thin upper lip

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

Skeletal Spine:
scoliosis
lordosis

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

UMLS symptoms related to Trichorhinophalangeal Syndrome, Type I:


koilonychia, thin, sparse hair

MGI Mouse Phenotypes related to Trichorhinophalangeal Syndrome, Type I:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.17 CDH1 CDKN1B EXT1 IKZF1 STARD10 TRPS1

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
Bone, Skin, Breast, Prostate, Heart, Colon, Kidney

Publications for Trichorhinophalangeal Syndrome, Type I

Articles related to Trichorhinophalangeal Syndrome, Type I:

(show top 50) (show all 276)
# Title Authors PMID Year
1
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. 6 56 61
10615131 2000
2
Trichorhinophalangeal Syndrome 61 6
28426188 2017
3
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events. 56 61
27133561 2016
4
Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal. 61 6
14560312 2004
5
A nonsense mutation in TRPS1 in a Japanese family with tricho-rhino-phalangeal syndrome type I. 61 6
11359471 2001
6
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. 61 56
11112658 2001
7
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). 61 56
8530105 1995
8
8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I. 56 61
3490425 1986
9
Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood. 56
20635356 2010
10
The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions. 56
9150732 1997
11
Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome. 56
7711731 1995
12
Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24. 56
8465849 1993
13
Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion. 56
2373110 1990
14
Partial trisomy of distal 8q derived from mother with mosaic 8q23.3----24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I. 56
2722199 1989
15
Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q. 56
2773990 1989
16
Prometaphase chromosomes in the tricho-rhino-phalangeal syndrome type I. 56
2773997 1989
17
Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13. 56
2784939 1989
18
Spastic paraplegia associated with brachydactyly and cone shaped epiphyses. 56
3430547 1987
19
A final word on the tricho-rhino-phalangeal syndromes. 56
3594935 1987
20
Tricho-rhino-phalangeal syndrome without exostoses, wih an interstitial deletion of 8q23. 56
3742850 1986
21
The tricho-rhino-phalangeal syndrome. A report of 14 cases in 7 kindreds. 56
3958020 1986
22
Complex translocation in a boy with trichorhinophalangeal syndrome. 56
4045963 1985
23
New clinical observations in the trichorhinophalangeal syndrome. 56
7341639 1981
24
The trichorhinophalangeal syndrome. Report of 4 familial cases belonging to 4 generations. 56
7204100 1980
25
Tricho-rhino-phalangeal syndrome in five successive generations: Report on a family in Finland. 56
75637 1978
26
The trichorhinophalangeal syndrome: study of 16 patients in one family. 56
409236 1977
27
The tricho-rhino-phalangeal syndrome. 56
861178 1977
28
The tricho-rhino-phalangeal syndrome. 56
4431036 1974
29
Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases. 56
4723882 1973
30
Tricho-rhino-phalangeal dysplasia. Report of a kindred. 56
4283755 1973
31
[Tricho-rhino-phalangeal syndrome]. 56
5991804 1966
32
The syndrome of brachymetacarpal dwarfism (pseudo-pseudohypoparathyroidism) with and without gonadal dysgenesis. 56
13621640 1959
33
Impaired dentin mineralization, supernumerary teeth, hypoplastic mandibular condyles with long condylar necks, and a TRPS1 mutation. 61
32442662 2020
34
Comprehensive characterization of circular RNAs in osteosarcoma cell lines. 61
32199934 2020
35
NDRG1-PLAG1 and TRPS1-PLAG1 Fusion Genes in Chondroid Syringoma. 61
32345665 2020
36
The effect of growth hormone treatment in a child with tricho-rhino-phalangeal syndrome: A case report and review of the literature. 61
31884116 2020
37
Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology. 61
32277046 2020
38
TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology. 61
32347565 2020
39
Mixed Phenotype of Langer-Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion. 61
31976145 2020
40
TRPS1 acts as a context-dependent regulator of mammary epithelial cell growth/differentiation and breast cancer development. 61
31879358 2020
41
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia. 61
32502225 2020
42
Extracellular Matrix From Decellularized Wharton's Jelly Improves the Behavior of Cells From Degenerated Intervertebral Disc. 61
32292779 2020
43
miRNA expression profiling uncovers a role of miR-302b-3p in regulating skin fibroblasts senescence. 61
31074095 2020
44
Wnt5a is a transcriptional target of Gli3 and Trps1 at the onset of chondrocyte hypertrophy. 61
31550480 2020
45
An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I. 61
31662300 2019
46
Myxoid smooth muscle neoplasia of the uterus: comprehensive analysis by next-generation sequencing and nucleic acid hybridization. 61
31189997 2019
47
[Tricho-rhino-phalangeal syndrome due to a novel frameshift variation of the TRPS1 gene]. 61
31598943 2019
48
Reciprocal Regulation of TRPS1 and miR-221 in Intervertebral Disc Cells. 61
31569377 2019
49
Genomic Evidence for Local Adaptation of Hunter-Gatherers to the African Rainforest. 61
31402299 2019
50
Severe brachydactyly and short stature resulting from a novel pathogenic TRPS1 variant within the GATA DNA-binding domain. 61
30914275 2019

Variations for Trichorhinophalangeal Syndrome, Type I

ClinVar genetic disease variations for Trichorhinophalangeal Syndrome, Type I:

6 (show top 50) (show all 97) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRPS1 NG_012383.3:g.(70130_86397)_(87002_255549)deldeletion Pathogenic 438455 8:116469546-116616099 8:115418453-115603872
2 TRPS1 NG_012383.3:g.(70130_86397)_(87002_255549)dupduplication Pathogenic 438454 8:116469546-116616099 8:115418453-115603872
3 TRPS1 NM_014112.4(TRPS1):c.(2823+1_2824-1)_(*1_?)deldeletion Pathogenic 438469 8:116426250-116430557 8:115414022-115418329
4 TRPS1 NG_012383.3:g.(87002_255549)_(259980_?)deldeletion Pathogenic 438459 8:115414022-115587000
5 TRPS1 NM_014112.5(TRPS1):c.3424del (p.Ser1142fs)deletion Pathogenic 438474 rs1554616802 8:116426712-116426712 8:115414484-115414484
6 TRPS1 NM_014112.5(TRPS1):c.3140del (p.Pro1047fs)deletion Pathogenic 438473 rs1554616950 8:116426996-116426996 8:115414768-115414768
7 TRPS1 NM_014112.5(TRPS1):c.3077del (p.Ser1026fs)deletion Pathogenic 438472 rs1554616971 8:116427059-116427059 8:115414831-115414831
8 TRPS1 NM_014112.5(TRPS1):c.2979_2980AG[1] (p.Glu994fs)short repeat Pathogenic 438471 rs1554617011 8:116427152-116427155 8:115414924-115414927
9 TRPS1 NM_014112.5(TRPS1):c.2852_2859dup (p.Gly954fs)duplication Pathogenic 438470 rs1554617078 8:116427276-116427277 8:115415048-115415049
10 TRPS1 NM_014112.5(TRPS1):c.2824-23T>GSNV Pathogenic 438468 rs752405769 8:116427335-116427335 8:115415107-115415107
11 TRPS1 NM_014112.5(TRPS1):c.2823+1G>TSNV Pathogenic 438467 rs1554617549 8:116430557-116430557 8:115418329-115418329
12 TRPS1 NM_014112.5(TRPS1):c.2801G>T (p.Gly934Val)SNV Pathogenic 438466 rs1554617561 8:116430580-116430580 8:115418352-115418352
13 TRPS1 NM_014112.5(TRPS1):c.2783_2784insC (p.Val929fs)insertion Pathogenic 438465 rs1554617567 8:116430597-116430598 8:115418369-115418370
14 TRPS1 NM_014112.5(TRPS1):c.2762G>C (p.Arg921Pro)SNV Pathogenic 438464 rs121908435 8:116430619-116430619 8:115418391-115418391
15 TRPS1 NM_014112.5(TRPS1):c.2761C>T (p.Arg921Ter)SNV Pathogenic 438463 rs751565386 8:116430620-116430620 8:115418392-115418392
16 TRPS1 NM_014112.5(TRPS1):c.2756T>C (p.Leu919Pro)SNV Pathogenic 438462 rs1554617573 8:116430625-116430625 8:115418397-115418397
17 TRPS1 NM_014112.5(TRPS1):c.2732A>G (p.Asn911Ser)SNV Pathogenic 438461 rs1554617580 8:116430649-116430649 8:115418421-115418421
18 TRPS1 NM_014112.5(TRPS1):c.2731A>T (p.Asn911Tyr)SNV Pathogenic 438460 rs1554617581 8:116430650-116430650 8:115418422-115418422
19 TRPS1 NM_014112.5(TRPS1):c.2394dup (p.Ser799fs)duplication Pathogenic 438458 rs1554592981 8:116599533-116599534 8:115587306-115587307
20 TRPS1 NM_014112.5(TRPS1):c.2353_2354GA[1] (p.Lys786fs)short repeat Pathogenic 438457 rs1554592995 8:116599572-116599573 8:115587345-115587346
21 TRPS1 NM_014112.5(TRPS1):c.2179_2180del (p.Val727fs)deletion Pathogenic 438456 rs1554593099 8:116599748-116599749 8:115587521-115587522
22 TRPS1 NM_014112.5(TRPS1):c.2094C>A (p.Tyr698Ter)SNV Pathogenic 438453 rs1554595857 8:116616102-116616102 8:115603875-115603875
23 TRPS1 NM_014112.5(TRPS1):c.1882C>T (p.Gln628Ter)SNV Pathogenic 438452 rs1554595930 8:116616314-116616314 8:115604087-115604087
24 TRPS1 NM_014112.5(TRPS1):c.1460del (p.Lys487fs)deletion Pathogenic 438451 rs1554596193 8:116616736-116616736 8:115604509-115604509
25 TRPS1 NM_014112.5(TRPS1):c.1231dup (p.Gln411fs)duplication Pathogenic 438450 rs1554596300 8:116616964-116616965 8:115604737-115604738
26 TRPS1 NM_014112.5(TRPS1):c.1176dup (p.Asn393Ter)duplication Pathogenic 438449 rs1554596328 8:116617019-116617020 8:115604792-115604793
27 TRPS1 NM_014112.5(TRPS1):c.1105C>T (p.Gln369Ter)SNV Pathogenic 438448 rs1554596391 8:116617091-116617091 8:115604864-115604864
28 TRPS1 NM_014112.5(TRPS1):c.1093C>T (p.Gln365Ter)SNV Pathogenic 438447 rs1554596393 8:116617103-116617103 8:115604876-115604876
29 TRPS1 NM_014112.5(TRPS1):c.1010_1014dup (p.Cys339fs)duplication Pathogenic 438446 rs1554596430 8:116617181-116617182 8:115604954-115604955
30 TRPS1 inv(8)(q13q24.1)inversion Pathogenic 438475
31 TRPS1 inv(8)(q21.1q24.1)inversion Pathogenic 438476
32 TRPS1 NM_014112.5(TRPS1):c.1649_1650del (p.Gly550fs)deletion Pathogenic 468199 rs1554596063 8:116616546-116616547 8:115604319-115604320
33 subset of 54 genes: EXT1 , TRPS1 deletion Pathogenic 599306 8:114508086-129040004
34 TRPS1 NM_014112.5(TRPS1):c.2892_2899dup (p.Asn967fs)duplication Pathogenic 620586 rs1563714392 8:116427236-116427237 8:115415008-115415009
35 TRPS1 NM_014112.5(TRPS1):c.3698G>A (p.Cys1233Tyr)SNV Pathogenic 635360 8:116426438-116426438 8:115414210-115414210
36 TRPS1 NM_014112.5(TRPS1):c.2880del (p.Arg961fs)deletion Pathogenic 660864 8:116427256-116427256 8:115415028-115415028
37 TRPS1 NM_014112.5(TRPS1):c.2641C>T (p.Gln881Ter)SNV Pathogenic 655892 8:116599287-116599287 8:115587060-115587060
38 TRPS1 NM_014112.5(TRPS1):c.2337_2338GA[3] (p.Lys782fs)short repeat Pathogenic 659289 8:116599584-116599585 8:115587357-115587358
39 TRPS1 NM_014112.5(TRPS1):c.489_492del (p.Glu165fs)deletion Pathogenic 652109 8:116631833-116631836 8:115619606-115619609
40 TRPS1 NM_014112.5(TRPS1):c.2700+1G>ASNV Pathogenic 649585 8:116599227-116599227 8:115587000-115587000
41 TRPS1 NM_014112.5(TRPS1):c.2666del (p.Asn889fs)deletion Pathogenic 692064 8:116599262-116599262 8:115587035-115587035
42 TRPS1 NM_014112.5(TRPS1):c.2110del (p.Cys704fs)deletion Pathogenic 694692 8:116599818-116599818 8:115587591-115587591
43 TRPS1 NM_014112.5(TRPS1):c.2195_2204del (p.Gln732fs)deletion Pathogenic 536120 rs1554593085 8:116599724-116599733 8:115587497-115587506
44 TRPS1 NM_014112.5(TRPS1):c.2086C>T (p.Arg696Ter)SNV Pathogenic 574440 rs368166434 8:116616110-116616110 8:115603883-115603883
45 TRPS1 NM_014112.5(TRPS1):c.1695_1705del (p.Gln565fs)deletion Pathogenic 574745 rs1563637033 8:116616491-116616501 8:115604264-115604274
46 TRPS1 NM_014112.5(TRPS1):c.2568T>G (p.Tyr856Ter)SNV Pathogenic 568409 rs1563623987 8:116599360-116599360 8:115587133-115587133
47 TRPS1 NC_000008.10:g.(?_116426231)_(116635884_?)deldeletion Pathogenic 583713 8:116426231-116635884
48 TRPS1 NM_014112.5(TRPS1):c.1014_1017dup (p.Gln340fs)duplication Pathogenic 579060 rs1563638577 8:116617178-116617179 8:115604951-115604952
49 TRPS1 NC_000008.10:g.(?_116616080)_(116635884_?)dupduplication Pathogenic 584199 8:116616080-116635884 8:115603853-115623657
50 TRPS1 NM_014112.5(TRPS1):c.2956_2960dup (p.Val988fs)duplication Pathogenic 846686 8:116427175-116427176 8:115414947-115414948

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

73
# 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 11.77 ZEB2 ZEB1 MIR222 MIR221 MIR181A1 MIR10B
3 11.11 MIR221 MIR181A1 IKZF1
4 10.96 MIR222 MIR221 MIR181A1 CDKN1B
5 10.91 MIR222 MIR221 MIR181A1

GO Terms for Trichorhinophalangeal Syndrome, Type I

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.73 TRPS1 HOXD10 EXT1
2 gene silencing by miRNA GO:0035195 9.73 MIR222 MIR221 MIR212 MIR181A1 MIR10B MIR103A1
3 negative regulation of inflammatory response GO:0050728 9.72 MIR222 MIR221 MIR181A1
4 embryonic morphogenesis GO:0048598 9.54 ZEB2 ZEB1
5 cellular response to lithium ion GO:0071285 9.52 CDKN1B CDH1
6 negative regulation of cell adhesion molecule production GO:0060354 9.51 MIR222 MIR221
7 positive regulation of axon regeneration GO:0048680 9.49 MIR222 MIR221
8 negative regulation of leukocyte adhesion to vascular endothelial cell GO:1904995 9.48 MIR222 MIR221
9 negative regulation by host of viral genome replication GO:0044828 9.46 MIR222 MIR221
10 negative regulation of interleukin-21 biosynthetic process GO:0045391 9.43 MIR222 MIR221
11 negative regulation of interleukin-21 production GO:0032705 9.4 MIR222 MIR221
12 negative regulation of TRAIL-activated apoptotic signaling pathway GO:1903122 9.37 MIR222 MIR221
13 positive regulation of Schwann cell migration GO:1900149 9.32 MIR222 MIR221
14 positive regulation of Schwann cell proliferation involved in axon regeneration GO:1905046 9.16 MIR222 MIR221
15 miRNA mediated inhibition of translation GO:0035278 9.02 MIR222 MIR221 MIR212 MIR181A1 MIR103A1
16 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 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.26 TRPS1 IKZF1 HOXD10 FOSL1
2 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....