MCID: TRC104
MIFTS: 17

Trichorhinophalangeal Syndrome Type 1 and 3

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

Aliases & Classifications for Trichorhinophalangeal Syndrome Type 1 and 3

Summaries for Trichorhinophalangeal Syndrome Type 1 and 3

MalaCards based summary : Trichorhinophalangeal Syndrome Type 1 and 3 An important gene associated with Trichorhinophalangeal Syndrome Type 1 and 3 is TRPS1 (Transcriptional Repressor GATA Binding 1). Affiliated tissues include skin and bone, and related phenotypes are frontal bossing and high palate

Related Diseases for Trichorhinophalangeal Syndrome Type 1 and 3

Symptoms & Phenotypes for Trichorhinophalangeal Syndrome Type 1 and 3

Human phenotypes related to Trichorhinophalangeal Syndrome Type 1 and 3:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
2 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
3 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
4 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
5 hyperlordosis 59 32 frequent (33%) Frequent (79-30%) HP:0003307
6 macrotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000400
7 pectus carinatum 59 32 frequent (33%) Frequent (79-30%) HP:0000768
8 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
9 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
10 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
11 cone-shaped epiphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0010579
12 protruding ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000411
13 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
14 increased number of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0011069
15 bulbous nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000414
16 short distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009882
17 triangular face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000325
18 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
19 short metacarpal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010049
20 avascular necrosis of the capital femoral epiphysis 59 32 frequent (33%) Frequent (79-30%) HP:0005743
21 sparse eyelashes 59 32 hallmark (90%) Very frequent (99-80%) HP:0000653
22 fragile nails 59 32 frequent (33%) Frequent (79-30%) HP:0001808
23 short metatarsal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010743
24 leukonychia 59 32 frequent (33%) Frequent (79-30%) HP:0001820
25 long upper lip 59 32 hallmark (90%) Very frequent (99-80%) HP:0011341
26 shortening of all phalanges of fingers 59 32 hallmark (90%) Very frequent (99-80%) HP:0011910
27 abnormality of the dentition 59 Frequent (79-30%)
28 sparse hair 59 Very frequent (99-80%)
29 sparse eyebrow 59 Very frequent (99-80%)
30 sparse and thin eyebrow 32 hallmark (90%) HP:0000535

Drugs & Therapeutics for Trichorhinophalangeal Syndrome Type 1 and 3

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

Genetic Tests for Trichorhinophalangeal Syndrome Type 1 and 3

Anatomical Context for Trichorhinophalangeal Syndrome Type 1 and 3

MalaCards organs/tissues related to Trichorhinophalangeal Syndrome Type 1 and 3:

41
Skin, Bone

Publications for Trichorhinophalangeal Syndrome Type 1 and 3

Variations for Trichorhinophalangeal Syndrome Type 1 and 3

Expression for Trichorhinophalangeal Syndrome Type 1 and 3

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

Pathways for Trichorhinophalangeal Syndrome Type 1 and 3

GO Terms for Trichorhinophalangeal Syndrome Type 1 and 3

Sources for Trichorhinophalangeal Syndrome Type 1 and 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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
Content
Loading form....