TRPS1
MCID: TRC092
MIFTS: 48

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 25 29 6 73
Trichorhinophalangeal Syndrome Type I 12 25 75 15
Trps1 57 53 25 75
Trichorhinophalangeal Syndrome Type 3 53 29 6
Sugio-Kajii Syndrome 12 53
Trps I 57 25
Trichorhinophalangeal Syndrome, Type Iii 73
Type Iii Trichorhinophalangeal Syndrome 12
Syndrome, Trichorhinophalangeal, Type I 40
Type I Trichorhinophalangeal Syndrome 12
Trichorhinophalangeal Syndrome Type 1 53
Tricho-Rhino-Phalangeal Syndrome 1 75
Giedion Syndrome 53
Trp Syndrome 25
Trps 3 53

Characteristics:

OMIM:

57
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:

32
trichorhinophalangeal syndrome, type i:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Trichorhinophalangeal Syndrome, Type I

NIH Rare Diseases : 53 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 trichorhinophalangeal syndrome, type ii and hereditary multiple osteochondromas, 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 is Development of pulmonary dendritic cells and macrophage subsets. The drugs Aldesleukin and Adjuvants, Immunologic have been mentioned in the context of this disorder. Affiliated tissues include bone, skin 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 : 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).

OMIM : 57 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 : 75 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 61)
# Related Disease Score Top Affiliating Genes
1 trichorhinophalangeal syndrome, type ii 32.8 TRPS1 TNFRSF11B RHNO1 EXTL1 EXT1 EIF3H
2 hereditary multiple osteochondromas 31.8 TRPS1 EXTL1 EXT1
3 trichorhinophalangeal syndrome 31.4 TRPS1 EXT1
4 hereditary multiple exostoses 30.0 EXTL1 EXT1
5 schinzel giedion syndrome 12.6
6 brachydactyly 11.7
7 prostate cancer 11.7
8 trichorhinophalangeal syndrome, type iii 11.6
9 hypertrichosis 11.5
10 hypertrichosis universalis congenita, ambras type 11.4
11 subependymoma 11.4
12 neonatal respiratory failure 11.1
13 alopecia areata 11.1
14 fitzsimmons syndrome 11.1
15 exostoses, multiple, type i 11.1
16 schinzel-giedion midface retraction syndrome 11.1
17 setbp1 disorder 11.1
18 trichorhinophalangeal syndrome type 1 and 3 11.0
19 breast cancer 10.3
20 hydronephrosis 10.1
21 cleft palate, isolated 10.0
22 tibial hemimelia 10.0
23 cornelia de lange syndrome 4 10.0
24 west syndrome 10.0
25 sacrococcygeal teratoma 10.0
26 teratoma 10.0
27 exostosis 10.0 EXTL1 EXT1
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 bone remodeling disease 9.9 TNFRSF11B RUNX2 EXT1
37 vesicoureteral reflux 1 9.9
38 renal fibrosis 9.9
39 scoliosis 9.9
40 cornelia de lange syndrome 9.9
41 infantile scoliosis 9.9
42 total anomalous pulmonary venous return 1 9.9
43 cornelia de lange syndrome 1 9.9
44 autism 9.9
45 renal dysplasia, cystic 9.9
46 epileptic encephalopathy, early infantile, 3 9.9
47 epileptic encephalopathy, early infantile, 4 9.9
48 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
49 lissencephaly 9.9
50 entropion 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

Symptoms via clinical synopsis from OMIM:

57
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 Hands:
short metacarpals
swelling of proximal interphalangeal joints
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)

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
thin nails
koilonychia

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

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

Human phenotypes related to Trichorhinophalangeal Syndrome, Type I:

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

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 immune system MP:0005387 9.32 EIF3H ENPP2 ERBB4 HDAC2 IKZF1 RUNX2

Drugs & Therapeutics for Trichorhinophalangeal Syndrome, Type I

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aldesleukin Approved Phase 2 85898-30-2, 110942-02-4
2 Adjuvants, Immunologic Phase 2
3 Anti-HIV Agents Phase 2
4 Freund's Adjuvant Phase 2
5 Anti-Retroviral Agents Phase 2
6 Antiviral Agents Phase 2
7 Immunologic Factors Phase 2
8 Vaccines Phase 2
9 Anti-Infective Agents 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 Not yet 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 29 TRPS1
2 Trichorhinophalangeal Syndrome Type 3 29 TRPS1

Anatomical Context for Trichorhinophalangeal Syndrome, Type I

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

41
Bone, Skin, Kidney, Prostate

Publications for Trichorhinophalangeal Syndrome, Type I

Articles related to Trichorhinophalangeal Syndrome, Type I:

(show all 33)
# 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--clinical, microscopic, and molecular features. ( 24448126 )
2014
4
Trichorhinophalangeal Syndrome Type I: A Novel Mutation and Perthes-like Changes of the Hip in a Family With 4 Cases Over 3 Generations. ( 25333908 )
2014
5
The use of cone beam computed tomography for the assessment of trichorhinophalangeal syndrome, type I - a case report. ( 23524547 )
2013
6
Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I. ( 24574699 )
2013
7
Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene. ( 23691375 )
2013
8
Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I. ( 23510776 )
2013
9
Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency. ( 22964620 )
2012
10
What is your diagnosis? Trichorhinophalangeal syndrome type I. ( 22474724 )
2012
11
TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability. ( 22127049 )
2012
12
Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients. ( 20394624 )
2010
13
A novel missense mutation in the TRPS1 gene in a case of trichorhinophalangeal syndrome type I (TRPS1) with fish-like malodour. ( 19694891 )
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
Orthognathic surgery for trichorhinophalangeal syndrome type I. ( 12045608 )
2002
21
Trichorhinophalangeal syndrome type I: clinical and molecular characterization of 3 members of a family and 1 sporadic case. ( 11708946 )
2001
22
Trichorhinophalangeal syndrome type I. ( 9731970 )
1998
23
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
24
A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I. ( 9138161 )
1997
25
Craniofacial and oral manifestations of trichorhinophalangeal syndrome type I (Giedion's syndrome): a case report. ( 9247947 )
1997
26
A case of trichorhinophalangeal syndrome, type I. ( 7851130 )
1994
27
Trichorhinophalangeal syndrome, type I. ( 8034799 )
1994
28
Trichorhinophalangeal syndrome, type I, with avascular necrosis of the femoral head. ( 8495099 )
1993
29
Trichorhinophalangeal syndrome type I and systemic lupus erythematosus with complement C4A homozygous null alleles in the same family. ( 2802798 )
1989
30
8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I. ( 3490425 )
1986
31
Trichorhinophalangeal syndrome type I: symptoms and signs, radiology and genetics. ( 3954456 )
1986
32
Clinical and scanning electron microscopic findings in a solitary case of Trichorhinophalangeal syndrome type I. ( 6204489 )
1984
33
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:

75
# 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 117)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPS1 NM_014112.4(TRPS1): c.1053C> A (p.Cys351Ter) single nucleotide variant Pathogenic rs121908430 GRCh37 Chromosome 8, 116617143: 116617143
2 TRPS1 NM_014112.4(TRPS1): c.1053C> A (p.Cys351Ter) single nucleotide variant Pathogenic rs121908430 GRCh38 Chromosome 8, 115604916: 115604916
3 TRPS1 NM_014112.4(TRPS1): c.1870C> T (p.Arg624Ter) single nucleotide variant Pathogenic rs121908431 GRCh37 Chromosome 8, 116616326: 116616326
4 TRPS1 NM_014112.4(TRPS1): c.1870C> T (p.Arg624Ter) single nucleotide variant Pathogenic rs121908431 GRCh38 Chromosome 8, 115604099: 115604099
5 TRPS1 TRPS1, 1-BP INS, 2406G insertion Pathogenic
6 TRPS1 TRPS1, 1-BP INS, 2441T 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.2740A> C (p.Thr914Pro) single nucleotide variant Pathogenic rs121908433 GRCh37 Chromosome 8, 116430641: 116430641
11 TRPS1 NM_014112.4(TRPS1): c.2740A> C (p.Thr914Pro) single nucleotide variant Pathogenic rs121908433 GRCh38 Chromosome 8, 115418413: 115418413
12 TRPS1 NM_014112.4(TRPS1): c.3315C> G (p.Tyr1105Ter) single nucleotide variant Pathogenic rs121908434 GRCh37 Chromosome 8, 116426821: 116426821
13 TRPS1 NM_014112.4(TRPS1): c.3315C> G (p.Tyr1105Ter) single nucleotide variant Pathogenic rs121908434 GRCh38 Chromosome 8, 115414593: 115414593
14 TRPS1 NM_014112.4(TRPS1): c.2762G> A (p.Arg921Gln) single nucleotide variant Pathogenic rs121908435 GRCh37 Chromosome 8, 116430619: 116430619
15 TRPS1 NM_014112.4(TRPS1): c.2762G> A (p.Arg921Gln) single nucleotide variant Pathogenic rs121908435 GRCh38 Chromosome 8, 115418391: 115418391
16 TRPS1 NM_014112.4(TRPS1): c.2795C> T (p.Ala932Val) single nucleotide variant Pathogenic rs121908436 GRCh37 Chromosome 8, 116430586: 116430586
17 TRPS1 NM_014112.4(TRPS1): c.2795C> T (p.Ala932Val) single nucleotide variant Pathogenic rs121908436 GRCh38 Chromosome 8, 115418358: 115418358
18 TRPS1 NM_014112.4(TRPS1): c.2893C> T (p.Arg965Cys) single nucleotide variant Pathogenic rs28939069 GRCh37 Chromosome 8, 116427243: 116427243
19 TRPS1 NM_014112.4(TRPS1): c.2893C> T (p.Arg965Cys) single nucleotide variant Pathogenic rs28939069 GRCh38 Chromosome 8, 115415015: 115415015
20 TRPS1 NM_014112.4(TRPS1): c.2894G> A (p.Arg965His) single nucleotide variant Likely pathogenic rs28939070 GRCh37 Chromosome 8, 116427242: 116427242
21 TRPS1 NM_014112.4(TRPS1): c.2894G> A (p.Arg965His) single nucleotide variant Likely pathogenic rs28939070 GRCh38 Chromosome 8, 115415014: 115415014
22 TRPS1 NM_014112.4(TRPS1): c.1693C> T (p.Gln565Ter) single nucleotide variant Pathogenic rs864621974 GRCh37 Chromosome 8, 116616503: 116616503
23 TRPS1 NM_014112.4(TRPS1): c.1693C> T (p.Gln565Ter) single nucleotide variant Pathogenic rs864621974 GRCh38 Chromosome 8, 115604276: 115604276
24 TRPS1 NM_014112.4(TRPS1): c.2700+10T> C single nucleotide variant Benign rs76046106 GRCh37 Chromosome 8, 116599218: 116599218
25 TRPS1 NM_014112.4(TRPS1): c.2700+10T> C single nucleotide variant Benign rs76046106 GRCh38 Chromosome 8, 115586991: 115586991
26 TRPS1 NM_014112.4(TRPS1): c.423G> T (p.Pro141=) single nucleotide variant Benign rs7823278 GRCh37 Chromosome 8, 116631902: 116631902
27 TRPS1 NM_014112.4(TRPS1): c.423G> T (p.Pro141=) single nucleotide variant Benign rs7823278 GRCh38 Chromosome 8, 115619675: 115619675
28 TRPS1 NM_014112.4(TRPS1): c.1630C> T (p.Arg544Ter) single nucleotide variant Pathogenic rs886040971 GRCh37 Chromosome 8, 116616566: 116616566
29 TRPS1 NM_014112.4(TRPS1): c.1630C> T (p.Arg544Ter) single nucleotide variant Pathogenic rs886040971 GRCh38 Chromosome 8, 115604339: 115604339
30 TRPS1 NM_014112.4(TRPS1): c.3319delC (p.Leu1107Phefs) deletion Pathogenic rs886042507 GRCh37 Chromosome 8, 116426817: 116426817
31 TRPS1 NM_014112.4(TRPS1): c.3319delC (p.Leu1107Phefs) deletion Pathogenic rs886042507 GRCh38 Chromosome 8, 115414589: 115414589
32 TRPS1 NM_014112.4(TRPS1): c.1788T> C (p.Tyr596=) single nucleotide variant Benign rs34094363 GRCh38 Chromosome 8, 115604181: 115604181
33 TRPS1 NM_014112.4(TRPS1): c.1788T> C (p.Tyr596=) single nucleotide variant Benign rs34094363 GRCh37 Chromosome 8, 116616408: 116616408
34 TRPS1 NM_014112.4(TRPS1): c.2658G> T (p.Ser886=) single nucleotide variant Benign/Likely benign rs191525942 GRCh38 Chromosome 8, 115587043: 115587043
35 TRPS1 NM_014112.4(TRPS1): c.2658G> T (p.Ser886=) single nucleotide variant Benign/Likely benign rs191525942 GRCh37 Chromosome 8, 116599270: 116599270
36 TRPS1 NM_014112.4(TRPS1): c.2794G> A (p.Ala932Thr) single nucleotide variant Pathogenic/Likely pathogenic rs1057518972 GRCh38 Chromosome 8, 115418359: 115418359
37 TRPS1 NM_014112.4(TRPS1): c.2794G> A (p.Ala932Thr) single nucleotide variant Pathogenic/Likely pathogenic rs1057518972 GRCh37 Chromosome 8, 116430587: 116430587
38 TRPS1 NG_012383.3: g.(70130_86397)_(87002_255549)del deletion Pathogenic GRCh37 Chromosome 8, 116469546: 116616099
39 TRPS1 NG_012383.3: g.(70130_86397)_(87002_255549)del deletion Pathogenic GRCh38 Chromosome 8, 115418453: 115603872
40 TRPS1 NG_012383.3: g.(70130_86397)_(87002_255549)dup duplication Pathogenic GRCh37 Chromosome 8, 116469546: 116616099
41 TRPS1 NG_012383.3: g.(70130_86397)_(87002_255549)dup duplication Pathogenic GRCh38 Chromosome 8, 115418453: 115603872
42 TRPS1 NM_014112.4(TRPS1): c.(2823+1_2824-1)_(*1_?)del deletion Pathogenic GRCh37 Chromosome 8, 116426250: 116430557
43 TRPS1 NM_014112.4(TRPS1): c.(2823+1_2824-1)_(*1_?)del deletion Pathogenic GRCh38 Chromosome 8, 115414022: 115418329
44 TRPS1 NG_012383.3: g.(87002_255549)_(259980_?)del deletion Pathogenic GRCh38 Chromosome 8, 115414022: 115587000
45 TRPS1 NM_014112.4(TRPS1): c.3424delA (p.Ser1142Valfs) deletion Pathogenic GRCh37 Chromosome 8, 116426712: 116426712
46 TRPS1 NM_014112.4(TRPS1): c.3424delA (p.Ser1142Valfs) deletion Pathogenic GRCh38 Chromosome 8, 115414484: 115414484
47 TRPS1 NM_014112.4(TRPS1): c.3140delC (p.Pro1047Leufs) deletion Pathogenic GRCh37 Chromosome 8, 116426996: 116426996
48 TRPS1 NM_014112.4(TRPS1): c.3140delC (p.Pro1047Leufs) deletion Pathogenic GRCh38 Chromosome 8, 115414768: 115414768
49 TRPS1 NM_014112.4(TRPS1): c.3077delG (p.Ser1026Thrfs) deletion Pathogenic GRCh37 Chromosome 8, 116427059: 116427059
50 TRPS1 NM_014112.4(TRPS1): c.3077delG (p.Ser1026Thrfs) deletion Pathogenic GRCh38 Chromosome 8, 115414831: 115414831

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 9.74 IKZF1 RUNX2

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 9.02 EXT1 EXTL1 RUNX2 TNFRSF11B TRPS1
2 positive regulation of oligodendrocyte differentiation GO:0048714 8.96 ENPP2 HDAC2

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

# Name GO ID Score Top Affiliating Genes
1 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 8.62 EXT1 EXTL1

Sources for Trichorhinophalangeal Syndrome, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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