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 macrotia

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:

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
2 macrotia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000400
3 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
4 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
5 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
6 cone-shaped epiphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0010579
7 protruding ear 60 33 hallmark (90%) Very frequent (99-80%) HP:0000411
8 clinodactyly of the 5th finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0004209
9 bulbous nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000414
10 short distal phalanx of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009882
11 triangular face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000325
12 short metacarpal 60 33 hallmark (90%) Very frequent (99-80%) HP:0010049
13 sparse eyelashes 60 33 hallmark (90%) Very frequent (99-80%) HP:0000653
14 short metatarsal 60 33 hallmark (90%) Very frequent (99-80%) HP:0010743
15 long upper lip 60 33 hallmark (90%) Very frequent (99-80%) HP:0011341
16 shortening of all phalanges of fingers 60 33 hallmark (90%) Very frequent (99-80%) HP:0011910
17 sparse and thin eyebrow 33 hallmark (90%) HP:0000535
18 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
19 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
20 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
21 hyperlordosis 60 33 frequent (33%) Frequent (79-30%) HP:0003307
22 pectus carinatum 60 33 frequent (33%) Frequent (79-30%) HP:0000768
23 increased number of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0011069
24 camptodactyly of finger 60 33 frequent (33%) Frequent (79-30%) HP:0100490
25 avascular necrosis of the capital femoral epiphysis 60 33 frequent (33%) Frequent (79-30%) HP:0005743
26 fragile nails 60 33 frequent (33%) Frequent (79-30%) HP:0001808
27 leukonychia 60 33 frequent (33%) Frequent (79-30%) HP:0001820
28 abnormality of the dentition 60 Frequent (79-30%)
29 sparse hair 60 Very frequent (99-80%)
30 sparse eyebrow 60 Very frequent (99-80%)

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:

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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