TRPS1
MCID: TRC092
MIFTS: 44

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 58 13 45
Trichorhinophalangeal Dysplasia Type I 12 26 30 6 74
Trichorhinophalangeal Syndrome Type I 12 26 76 15
Trps1 58 54 26 76
Trichorhinophalangeal Syndrome Type 1 12 54
Trps I 58 26
Trichorhinophalangeal Syndrome, Type Iii 74
Syndrome, Trichorhinophalangeal, Type I 41
Type I Trichorhinophalangeal Syndrome 12
Tricho-Rhino-Phalangeal Syndrome 1 76
Giedion Syndrome 54
Trp Syndrome 26

Characteristics:

OMIM:

58
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:

33
trichorhinophalangeal syndrome, type i:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Trichorhinophalangeal Syndrome, Type I

NIH Rare Diseases : 54 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.

MalaCards based summary : Trichorhinophalangeal Syndrome, Type I, also known as trichorhinophalangeal dysplasia type i, is related to hypertrichosis and trichorhinophalangeal syndrome, type ii, 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). The drugs Aldesleukin and Sargramostim have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and kidney, and related phenotypes are osteoarthritis and osteopenia

Disease Ontology : 12 An autosomal dominant disease 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).

Genetics Home Reference : 26 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).

OMIM : 58 Trichorhinophalangeal syndrome type I is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities and is inherited as an autosomal dominant (Momeni et al., 2000). 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. (190350)

UniProtKB/Swiss-Prot : 76 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 64)
# Related Disease Score Top Affiliating Genes
1 hypertrichosis 31.9 EXT1 TRPS1
2 trichorhinophalangeal syndrome, type ii 31.8 EIF3H EXT1 RHNO1 TRPS1
3 fitzsimmons syndrome 31.6 TBL1XR1 TRPS1
4 hereditary multiple osteochondromas 31.5 EXT1 TRPS1
5 trichorhinophalangeal syndrome 31.1 EXT1 TRPS1
6 schinzel giedion syndrome 12.7
7 trichorhinophalangeal syndrome, type iii 12.2
8 brachydactyly 11.8
9 prostate cancer 11.7
10 hypertrichosis universalis congenita, ambras type 11.5
11 subependymoma 11.5
12 alopecia areata 11.2
13 exostoses, multiple, type i 11.1
14 schinzel-giedion midface retraction syndrome 11.1
15 setbp1 disorder 11.1
16 trichorhinophalangeal syndrome type 1 and 3 11.0
17 breast cancer 10.4
18 xp22.3 microdeletion syndrome 10.3
19 prostate cancer, hereditary, 8 10.3
20 prostate cancer, hereditary, 6 10.3
21 hydronephrosis 10.1
22 cleft palate, isolated 10.1
23 tibial hemimelia 10.1
24 cornelia de lange syndrome 4 10.1
25 west syndrome 10.1
26 sacrococcygeal teratoma 10.1
27 teratoma 10.1
28 systemic lupus erythematosus 10.0
29 avascular necrosis of femoral head, primary, 1 10.0
30 alacrima, achalasia, and mental retardation syndrome 10.0
31 syringomyelia 10.0
32 hypotrichosis 10.0
33 lupus erythematosus 10.0
34 arachnoid cysts 10.0
35 growth hormone deficiency 10.0
36 cornelia de lange syndrome 1 10.0
37 vesicoureteral reflux 1 10.0
38 stroke, ischemic 10.0
39 coronary heart disease 1 10.0
40 renal fibrosis 10.0
41 scoliosis 10.0
42 heart disease 10.0
43 cornelia de lange syndrome 10.0
44 infantile scoliosis 10.0
45 total anomalous pulmonary venous return 1 9.9
46 autism 9.9
47 renal dysplasia, cystic 9.9
48 epileptic encephalopathy, early infantile, 3 9.9
49 epileptic encephalopathy, early infantile, 4 9.9
50 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9

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:

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

Symptoms via clinical synopsis from OMIM:

58
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

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

Head And Neck Ears:
large prominent ears

Head And Neck Eyes:
thin eyebrows (laterally)

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 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)

Neurologic Central Nervous System:
normal intelligence
hypotonia (infancy)

Growth Other:
growth deficiency, mild

Head And Neck Nose:
pear-shaped nose

Clinical features from OMIM:

190350

UMLS symptoms related to Trichorhinophalangeal Syndrome, Type I:


koilonychia, thin, sparse hair

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

27 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.95 TRPS1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.95 EIF3H TBL1XR1 TRPS1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.95 TRPS1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.95 TBL1XR1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.95 EIF3H TRPS1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.95 EIF3H
7 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.95 EIF3H
8 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.95 EIF3H TBL1XR1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.95 TRPS1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.95 TBL1XR1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.95 TRPS1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.95 EIF3H
13 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.95 TBL1XR1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.95 TRPS1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.95 TRPS1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.95 EIF3H
17 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.95 TBL1XR1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.95 EIF3H
19 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.95 TRPS1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.95 TBL1XR1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.95 EIF3H
22 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.95 TRPS1

Drugs & Therapeutics for Trichorhinophalangeal Syndrome, Type I

Drugs for Trichorhinophalangeal Syndrome, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aldesleukin Approved Phase 2 110942-02-4, 85898-30-2
2
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
3 Adjuvants, Immunologic Phase 2
4 Anti-Retroviral Agents Phase 2
5 Anti-HIV Agents Phase 2
6 Anti-Infective Agents Phase 2
7 Immunologic Factors Phase 2
8 Antiviral Agents Phase 2
9 Freund's Adjuvant Phase 2
10 Vaccines Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vaccine Therapy in Treating Patients With Recurrent or Refractory Metastatic Melanoma Completed NCT00019383 Phase 2
2 Clinical Outcomes After Dry Needling on Cervical Muscles, and Quality of Life, in Patients With Fibromyalgia Syndrome. Completed NCT03015662 Not Applicable
3 Expressions of TRPV1 in Airway of Asthmatics Active, not recruiting NCT02952066 Not Applicable

Search 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 30 TRPS1

Anatomical Context for Trichorhinophalangeal Syndrome, Type I

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

42
Skin, Bone, Kidney

Publications for Trichorhinophalangeal Syndrome, Type I

Articles related to Trichorhinophalangeal Syndrome, Type I:

(show all 36)
# Title Authors Year
1
Incidental finding of an Xq microdeletion in a girl with trichorhinophalangeal syndrome type I harboring a novel TRPS1 nonsense mutation. ( 29651829 )
2018
2
Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient. ( 28966516 )
2017
3
Trichorhinophalangeal syndrome type I: a novel mutation and Perthes-like changes of the hip in a family with 4 cases over 3 generations. ( 25333908 )
2015
4
Trichorhinophalangeal syndrome type I--clinical, microscopic, and molecular features. ( 24448126 )
2014
5
Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I. ( 23510776 )
2013
6
The use of cone beam computed tomography for the assessment of trichorhinophalangeal syndrome, type I - a case report. ( 23524547 )
2013
7
Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene. ( 23691375 )
2013
8
Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I. ( 24574699 )
2013
9
Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency. ( 22964620 )
2012
10
TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability. ( 22127049 )
2012
11
What is your diagnosis? Trichorhinophalangeal syndrome type I. ( 22474724 )
2012
12
A novel missense mutation in the TRPS1 gene in a case of trichorhinophalangeal syndrome type I (TRPS1) with fish-like malodour. ( 19694891 )
2010
13
Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients. ( 20394624 )
2010
14
A familial case of trichorhinophalangeal syndrome type I. ( 19419465 )
2009
15
Hypotrichosis, bulbous nose, and cone-shaped epiphyses in an 8-year-old girl. Trichorhinophalangeal syndrome type I. ( 18950401 )
2008
16
Posterior fossa arachnoid cyst, tonsillar herniation, and syringomyelia in trichorhinophalangeal syndrome Type I. ( 18826365 )
2008
17
Missense mutation in exon 7 of TRPS1 gene in an Italian family with a mild form of trichorhinophalangeal syndrome type I. ( 17854380 )
2007
18
Orthognathic surgery for a patient with trichorhinophalangeal syndrome type I: a case report. ( 16448909 )
2006
19
V-shaped, longitudinal nail dystrophies in trichorhinophalangeal syndrome type I. ( 16088167 )
2005
20
Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal. ( 14560312 )
2004
21
Orthognathic surgery for trichorhinophalangeal syndrome type I. ( 12045608 )
2002
22
Trichorhinophalangeal syndrome type I: clinical and molecular characterization of 3 members of a family and 1 sporadic case. ( 11708946 )
2001
23
A nonsense mutation in TRPS1 in a Japanese family with tricho-rhino-phalangeal syndrome type I. ( 11359471 )
2001
24
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. ( 10615131 )
2000
25
Trichorhinophalangeal syndrome type I. ( 9731970 )
1998
26
Trichorhinophalangeal syndrome type I in monozygotic twins discordant for hip pathology. Report on the morphological evolution of cone-shaped epiphyses and the unusual pattern of skeletal maturation. ( 9799317 )
1998
27
A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I. ( 9138161 )
1997
28
Craniofacial and oral manifestations of trichorhinophalangeal syndrome type I (Giedion's syndrome): a case report. ( 9247947 )
1997
29
Trichorhinophalangeal syndrome, type I. ( 8034799 )
1994
30
A case of trichorhinophalangeal syndrome, type I. ( 7851130 )
1994
31
Trichorhinophalangeal syndrome, type I, with avascular necrosis of the femoral head. ( 8495099 )
1993
32
Trichorhinophalangeal syndrome type I and systemic lupus erythematosus with complement C4A homozygous null alleles in the same family. ( 2802798 )
1989
33
8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I. ( 3490425 )
1986
34
Trichorhinophalangeal syndrome type I: symptoms and signs, radiology and genetics. ( 3954456 )
1986
35
Clinical and scanning electron microscopic findings in a solitary case of Trichorhinophalangeal syndrome type I. ( 6204489 )
1984
36
Variable expressivity in the trichorhinophalangeal syndrome type I. ( 526590 )
1979

Variations for Trichorhinophalangeal Syndrome, Type I

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

76
# Symbol AA change Variation ID SNP ID
1 TRPS1 p.Arg952Cys VAR_038198 rs28939069
2 TRPS1 p.Arg952His VAR_038199 rs28939070

ClinVar genetic disease variations for Trichorhinophalangeal Syndrome, Type I:

6 (show top 50) (show all 116)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPS1 TRPS1, 1-BP INS, 2441T insertion Pathogenic
2 TRPS1 NM_014112.4(TRPS1): c.1053C> A (p.Cys351Ter) single nucleotide variant Pathogenic rs121908430 GRCh37 Chromosome 8, 116617143: 116617143
3 TRPS1 NM_014112.4(TRPS1): c.1053C> A (p.Cys351Ter) single nucleotide variant Pathogenic rs121908430 GRCh38 Chromosome 8, 115604916: 115604916
4 TRPS1 NM_014112.4(TRPS1): c.1870C> T (p.Arg624Ter) single nucleotide variant Pathogenic rs121908431 GRCh37 Chromosome 8, 116616326: 116616326
5 TRPS1 NM_014112.4(TRPS1): c.1870C> T (p.Arg624Ter) single nucleotide variant Pathogenic rs121908431 GRCh38 Chromosome 8, 115604099: 115604099
6 TRPS1 TRPS1, 1-BP INS, 2406G insertion Pathogenic
7 TRPS1 NM_014112.4(TRPS1): c.2557C> T (p.Arg853Ter) single nucleotide variant Pathogenic rs121908432 GRCh37 Chromosome 8, 116599371: 116599371
8 TRPS1 NM_014112.4(TRPS1): c.2557C> T (p.Arg853Ter) single nucleotide variant Pathogenic rs121908432 GRCh38 Chromosome 8, 115587144: 115587144
9 TRPS1 TRPS1, 4-BP INS, 3360GGAG insertion Pathogenic
10 TRPS1 NM_014112.4(TRPS1): c.3315C> G (p.Tyr1105Ter) single nucleotide variant Pathogenic rs121908434 GRCh37 Chromosome 8, 116426821: 116426821
11 TRPS1 NM_014112.4(TRPS1): c.3315C> G (p.Tyr1105Ter) single nucleotide variant Pathogenic rs121908434 GRCh38 Chromosome 8, 115414593: 115414593
12 TRPS1 NM_014112.4(TRPS1): c.2762G> A (p.Arg921Gln) single nucleotide variant Pathogenic rs121908435 GRCh37 Chromosome 8, 116430619: 116430619
13 TRPS1 NM_014112.4(TRPS1): c.2762G> A (p.Arg921Gln) single nucleotide variant Pathogenic rs121908435 GRCh38 Chromosome 8, 115418391: 115418391
14 TRPS1 NM_014112.4(TRPS1): c.2795C> T (p.Ala932Val) single nucleotide variant Pathogenic rs121908436 GRCh37 Chromosome 8, 116430586: 116430586
15 TRPS1 NM_014112.4(TRPS1): c.2795C> T (p.Ala932Val) single nucleotide variant Pathogenic rs121908436 GRCh38 Chromosome 8, 115418358: 115418358
16 TRPS1 NM_014112.4(TRPS1): c.2893C> T (p.Arg965Cys) single nucleotide variant Pathogenic rs28939069 GRCh37 Chromosome 8, 116427243: 116427243
17 TRPS1 NM_014112.4(TRPS1): c.2893C> T (p.Arg965Cys) single nucleotide variant Pathogenic rs28939069 GRCh38 Chromosome 8, 115415015: 115415015
18 TRPS1 NM_014112.4(TRPS1): c.2894G> A (p.Arg965His) single nucleotide variant Likely pathogenic rs28939070 GRCh37 Chromosome 8, 116427242: 116427242
19 TRPS1 NM_014112.4(TRPS1): c.2894G> A (p.Arg965His) single nucleotide variant Likely pathogenic rs28939070 GRCh38 Chromosome 8, 115415014: 115415014
20 TRPS1 NM_014112.4(TRPS1): c.1693C> T (p.Gln565Ter) single nucleotide variant Pathogenic rs864621974 GRCh37 Chromosome 8, 116616503: 116616503
21 TRPS1 NM_014112.4(TRPS1): c.1693C> T (p.Gln565Ter) single nucleotide variant Pathogenic rs864621974 GRCh38 Chromosome 8, 115604276: 115604276
22 TRPS1 NM_014112.4(TRPS1): c.2700+10T> C single nucleotide variant Benign rs76046106 GRCh37 Chromosome 8, 116599218: 116599218
23 TRPS1 NM_014112.4(TRPS1): c.2700+10T> C single nucleotide variant Benign rs76046106 GRCh38 Chromosome 8, 115586991: 115586991
24 TRPS1 NM_014112.4(TRPS1): c.423G> T (p.Pro141=) single nucleotide variant Benign rs7823278 GRCh37 Chromosome 8, 116631902: 116631902
25 TRPS1 NM_014112.4(TRPS1): c.423G> T (p.Pro141=) single nucleotide variant Benign rs7823278 GRCh38 Chromosome 8, 115619675: 115619675
26 TRPS1 NM_014112.4(TRPS1): c.1630C> T (p.Arg544Ter) single nucleotide variant Pathogenic rs886040971 GRCh37 Chromosome 8, 116616566: 116616566
27 TRPS1 NM_014112.4(TRPS1): c.1630C> T (p.Arg544Ter) single nucleotide variant Pathogenic rs886040971 GRCh38 Chromosome 8, 115604339: 115604339
28 TRPS1 NM_014112.4(TRPS1): c.1788T> C (p.Tyr596=) single nucleotide variant Benign rs34094363 GRCh38 Chromosome 8, 115604181: 115604181
29 TRPS1 NM_014112.4(TRPS1): c.1788T> C (p.Tyr596=) single nucleotide variant Benign rs34094363 GRCh37 Chromosome 8, 116616408: 116616408
30 TRPS1 NM_014112.4(TRPS1): c.2658G> T (p.Ser886=) single nucleotide variant Benign/Likely benign rs191525942 GRCh38 Chromosome 8, 115587043: 115587043
31 TRPS1 NM_014112.4(TRPS1): c.2658G> T (p.Ser886=) single nucleotide variant Benign/Likely benign rs191525942 GRCh37 Chromosome 8, 116599270: 116599270
32 TRPS1 NM_014112.4(TRPS1): c.2794G> A (p.Ala932Thr) single nucleotide variant Pathogenic/Likely pathogenic rs1057518972 GRCh38 Chromosome 8, 115418359: 115418359
33 TRPS1 NM_014112.4(TRPS1): c.2794G> A (p.Ala932Thr) single nucleotide variant Pathogenic/Likely pathogenic rs1057518972 GRCh37 Chromosome 8, 116430587: 116430587
34 TRPS1 NG_012383.3: g.(70130_86397)_(87002_255549)del deletion Pathogenic GRCh37 Chromosome 8, 116469546: 116616099
35 TRPS1 NG_012383.3: g.(70130_86397)_(87002_255549)del deletion Pathogenic GRCh38 Chromosome 8, 115418453: 115603872
36 TRPS1 NG_012383.3: g.(70130_86397)_(87002_255549)dup duplication Pathogenic GRCh37 Chromosome 8, 116469546: 116616099
37 TRPS1 NG_012383.3: g.(70130_86397)_(87002_255549)dup duplication Pathogenic GRCh38 Chromosome 8, 115418453: 115603872
38 TRPS1 NM_014112.4(TRPS1): c.(2823+1_2824-1)_(*1_?)del deletion Pathogenic GRCh37 Chromosome 8, 116426250: 116430557
39 TRPS1 NM_014112.4(TRPS1): c.(2823+1_2824-1)_(*1_?)del deletion Pathogenic GRCh38 Chromosome 8, 115414022: 115418329
40 TRPS1 NG_012383.3: g.(87002_255549)_(259980_?)del deletion Pathogenic GRCh38 Chromosome 8, 115414022: 115587000
41 TRPS1 NM_014112.4(TRPS1): c.3424del (p.Ser1142Valfs) deletion Pathogenic rs1554616802 GRCh37 Chromosome 8, 116426712: 116426712
42 TRPS1 NM_014112.4(TRPS1): c.3424del (p.Ser1142Valfs) deletion Pathogenic rs1554616802 GRCh38 Chromosome 8, 115414484: 115414484
43 TRPS1 NM_014112.4(TRPS1): c.3140del (p.Pro1047Leufs) deletion Pathogenic rs1554616950 GRCh37 Chromosome 8, 116426996: 116426996
44 TRPS1 NM_014112.4(TRPS1): c.3140del (p.Pro1047Leufs) deletion Pathogenic rs1554616950 GRCh38 Chromosome 8, 115414768: 115414768
45 TRPS1 NM_014112.4(TRPS1): c.3077del (p.Ser1026Thrfs) deletion Pathogenic rs1554616971 GRCh37 Chromosome 8, 116427059: 116427059
46 TRPS1 NM_014112.4(TRPS1): c.3077del (p.Ser1026Thrfs) deletion Pathogenic rs1554616971 GRCh38 Chromosome 8, 115414831: 115414831
47 TRPS1 NM_014112.4(TRPS1): c.2981_2984del (p.Glu994Glyfs) deletion Pathogenic rs1554617011 GRCh37 Chromosome 8, 116427152: 116427155
48 TRPS1 NM_014112.4(TRPS1): c.2981_2984del (p.Glu994Glyfs) deletion Pathogenic rs1554617011 GRCh38 Chromosome 8, 115414924: 115414927
49 TRPS1 NM_014112.4(TRPS1): c.2852_2859dup (p.Gly954LysfsTer43) duplication Pathogenic rs1554617078 GRCh37 Chromosome 8, 116427277: 116427284
50 TRPS1 NM_014112.4(TRPS1): c.2852_2859dup (p.Gly954LysfsTer43) duplication Pathogenic rs1554617078 GRCh38 Chromosome 8, 115415049: 115415056

Expression for Trichorhinophalangeal Syndrome, Type I

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

Pathways for Trichorhinophalangeal Syndrome, Type I

GO Terms for Trichorhinophalangeal Syndrome, Type I

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

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 8.62 EXT1 TRPS1

Sources for Trichorhinophalangeal Syndrome, Type I

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