TRPS3
MCID: TRC093
MIFTS: 37

Trichorhinophalangeal Syndrome, Type Iii (TRPS3)

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

Aliases & Classifications for Trichorhinophalangeal Syndrome, Type Iii

MalaCards integrated aliases for Trichorhinophalangeal Syndrome, Type Iii:

Name: Trichorhinophalangeal Syndrome, Type Iii 56 13 39 71
Trichorhinophalangeal Syndrome Type 3 12 52 29 6
Trichorhinophalangeal Syndrome Type Iii 12 73 15
Sugio-Kajii Syndrome 56 52
Trps3 56 73
Tricho-Rhino-Phalangeal Syndrome 3 73
Trps 3 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
cone-shaped epiphyses usually not present before age 2 years
allelic to trp1
trp2 (langer-giedion syndrome, ) is a microdeletion syndrome involving deletions of both the trps1 and ext1 genes


HPO:

31
trichorhinophalangeal syndrome, type iii:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Trichorhinophalangeal Syndrome, Type Iii

NIH Rare Diseases : 52 Trichorhinophalangeal syndrome type 3 (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder. TRPS3 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 ). The range and severity of symptoms may vary from case to case. TRPS3 is caused by mutations in the TRPS1 gene which is localized to 8q24.12 . TRPS3 is inherited in an autosomal dominant manner.

MalaCards based summary : Trichorhinophalangeal Syndrome, Type Iii, also known as trichorhinophalangeal syndrome type 3, is related to trichorhinophalangeal syndrome, type i and trichorhinophalangeal syndrome. An important gene associated with Trichorhinophalangeal Syndrome, Type Iii is TRPS1 (Transcriptional Repressor GATA Binding 1). Affiliated tissues include bone and skin, and related phenotypes are scoliosis and osteopenia

Disease Ontology : 12 An autosomal dominant disease that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has material basis in heterozygous mutation in the TRPS1 gene on chromosome 8q23.

UniProtKB/Swiss-Prot : 73 Tricho-rhino-phalangeal syndrome 3: Autosomal dominant disorder characterized by craniofacial and skeletal abnormalities. It is allelic with tricho-rhino-phalangeal type 1. In TRPS3 a more severe brachydactyly and growth retardation are observed.

More information from OMIM: 190351

Related Diseases for Trichorhinophalangeal Syndrome, Type Iii

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 Iii via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 trichorhinophalangeal syndrome, type i 32.1 TRPS1 EXT1
2 trichorhinophalangeal syndrome 30.0 TRPS1 EXT1
3 brachydactyly 29.8 TRPS1 GDF5
4 ruvalcaba syndrome 10.6
5 cornelia de lange syndrome 9.7 TRPS1 CHD7
6 trichorhinophalangeal syndrome, type ii 9.7 TRPS1 EXT1
7 hereditary multiple exostoses 9.6 TRPS1 EXT1
8 hypertrichosis 9.6 TRPS1 EXT1
9 exostosis 9.6 GDF5 EXT1
10 bone disease 9.2 GDF5 EXT1

Graphical network of the top 20 diseases related to Trichorhinophalangeal Syndrome, Type Iii:



Diseases related to Trichorhinophalangeal Syndrome, Type Iii

Symptoms & Phenotypes for Trichorhinophalangeal Syndrome, Type Iii

Human phenotypes related to Trichorhinophalangeal Syndrome, Type Iii:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 osteopenia 31 HP:0000938
3 delayed skeletal maturation 31 HP:0002750
4 abnormality of the nervous system 31 HP:0000707
5 brachydactyly 31 HP:0001156
6 short stature 31 HP:0004322
7 underdeveloped nasal alae 31 HP:0000430
8 short metacarpal 31 HP:0010049
9 smooth philtrum 31 HP:0000319
10 long philtrum 31 HP:0000343
11 protruding ear 31 HP:0000411
12 short palm 31 HP:0004279
13 short foot 31 HP:0001773
14 thin upper lip vermilion 31 HP:0000219
15 dental crowding 31 HP:0000678
16 increased number of teeth 31 HP:0011069
17 short finger 31 HP:0009381
18 sparse lateral eyebrow 31 HP:0005338
19 sparse hair 31 HP:0008070
20 avascular necrosis of the capital femoral epiphysis 31 HP:0005743
21 short phalanx of finger 31 HP:0009803
22 short metatarsal 31 HP:0010743
23 coxa magna 31 HP:0003279
24 accelerated bone age after puberty 31 HP:0002805
25 pear-shaped nose 31 HP:0000447
26 cone-shaped epiphyses of the middle phalanges of the hand 31 HP:0010259

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis

Skin Nails Hair Hair:
sparse hair
laterally sparse eyebrow

Skeletal:
accelerated bone age after puberty
mild osteopenia
delayed bone age before puberty

Head And Neck Mouth:
thin upper lip

Skeletal Hands:
short metacarpals
short phalanges
short hands
cone-shaped epiphyses (middle phalanges)
severe brachydactyly

Neurologic Central Nervous System:
normal intelligence

Head And Neck Ears:
protruding ears

Head And Neck Eyes:
laterally sparse eyebrows

Growth Height:
short stature
normal birth length

Skeletal Pelvis:
coxa magna
coxa plana

Head And Neck Nose:
pear-shaped nose
hypoplastic alae nasi

Growth Weight:
normal birth weight

Skeletal Feet:
short metatarsals
short feet

Head And Neck Teeth:
supernumerary teeth
crowded teeth

Head And Neck Face:
long, flat philtrum

Skeletal Limbs:
absence of exostoses

Clinical features from OMIM:

190351

MGI Mouse Phenotypes related to Trichorhinophalangeal Syndrome, Type Iii:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.33 CHD7 EXT1 TRPS1
2 limbs/digits/tail MP:0005371 9.13 CHD7 EXT1 GDF5
3 skeleton MP:0005390 8.92 CHD7 EXT1 GDF5 TRPS1

Drugs & Therapeutics for Trichorhinophalangeal Syndrome, Type Iii

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Outcomes After Dry Needling on Cervical Muscles, Quality of Life, Fatigue, Quality of Sleep, Anxiety and Depression in Patients With Fibromyalgia Syndrome. Completed NCT03015662

Search NIH Clinical Center for Trichorhinophalangeal Syndrome, Type Iii

Genetic Tests for Trichorhinophalangeal Syndrome, Type Iii

Genetic tests related to Trichorhinophalangeal Syndrome, Type Iii:

# Genetic test Affiliating Genes
1 Trichorhinophalangeal Syndrome Type 3 29 TRPS1

Anatomical Context for Trichorhinophalangeal Syndrome, Type Iii

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

40
Bone, Skin

Publications for Trichorhinophalangeal Syndrome, Type Iii

Articles related to Trichorhinophalangeal Syndrome, Type Iii:

(show all 11)
# Title Authors PMID Year
1
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. 56 6
11112658 2001
2
Sporadic case of trichorhinophalangeal syndrome type III in a European patient. 61 56
10405449 1999
3
Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes. 6
11950061 2002
4
Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III. 6
11807863 2002
5
Another family with tricho-rhino-phalangeal syndrome type III (Sugio-Kajii syndrome). 56
8209886 1994
6
The Sugio-Kajii syndrome, proposed tricho-rhino-phalangeal syndrome type III. 56
3740106 1986
7
Ruvalcaba syndrome. 56
4025405 1985
8
Ruvalcaba syndrome: autosomal dominant inheritance. 56
6517098 1984
9
A novel missense mutation in the TRPS1 gene underlies trichorhinophalangeal syndrome type III. 61
18544079 2008
10
Trichorhinophalangeal syndrome type III in Turkish siblings. 61
17062490 2006
11
Trichorhinophalangeal syndrome type III. 61
8993967 1996

Variations for Trichorhinophalangeal Syndrome, Type Iii

ClinVar genetic disease variations for Trichorhinophalangeal Syndrome, Type Iii:

6 (show all 23) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRPS1 NM_014112.5(TRPS1):c.2740A>C (p.Thr914Pro)SNV Pathogenic 5575 rs121908433 8:116430641-116430641 8:115418413-115418413
2 TRPS1 NM_014112.5(TRPS1):c.2762G>A (p.Arg921Gln)SNV Pathogenic 5577 rs121908435 8:116430619-116430619 8:115418391-115418391
3 TRPS1 NM_014112.5(TRPS1):c.2795C>T (p.Ala932Val)SNV Pathogenic 5578 rs121908436 8:116430586-116430586 8:115418358-115418358
4 TRPS1 NM_014112.5(TRPS1):c.2893C>T (p.Arg965Cys)SNV Pathogenic 5579 rs28939069 8:116427243-116427243 8:115415015-115415015
5 TRPS1 NM_014112.5(TRPS1):c.2761C>T (p.Arg921Ter)SNV Pathogenic 438463 rs751565386 8:116430620-116430620 8:115418392-115418392
6 TRPS1 NM_014112.5(TRPS1):c.1649_1650del (p.Gly550fs)deletion Pathogenic 468199 rs1554596063 8:116616546-116616547 8:115604319-115604320
7 TRPS1 NM_014112.5(TRPS1):c.2195_2204del (p.Gln732fs)deletion Pathogenic 536120 rs1554593085 8:116599724-116599733 8:115587497-115587506
8 TRPS1 NM_014112.5(TRPS1):c.2086C>T (p.Arg696Ter)SNV Pathogenic 574440 rs368166434 8:116616110-116616110 8:115603883-115603883
9 TRPS1 NM_014112.5(TRPS1):c.1695_1705del (p.Gln565fs)deletion Pathogenic 574745 rs1563637033 8:116616491-116616501 8:115604264-115604274
10 TRPS1 NM_014112.5(TRPS1):c.2568T>G (p.Tyr856Ter)SNV Pathogenic 568409 rs1563623987 8:116599360-116599360 8:115587133-115587133
11 TRPS1 NC_000008.10:g.(?_116426231)_(116635884_?)deldeletion Pathogenic 583713 8:116426231-116635884
12 TRPS1 NM_014112.5(TRPS1):c.1014_1017dup (p.Gln340fs)duplication Pathogenic 579060 rs1563638577 8:116617178-116617179 8:115604951-115604952
13 TRPS1 NC_000008.10:g.(?_116616080)_(116635884_?)dupduplication Pathogenic 584199 8:116616080-116635884 8:115603853-115623657
14 TRPS1 NM_014112.5(TRPS1):c.2880del (p.Arg961fs)deletion Pathogenic 660864 8:116427256-116427256 8:115415028-115415028
15 TRPS1 NM_014112.5(TRPS1):c.2641C>T (p.Gln881Ter)SNV Pathogenic 655892 8:116599287-116599287 8:115587060-115587060
16 TRPS1 NM_014112.5(TRPS1):c.2337_2338GA[3] (p.Lys782fs)short repeat Pathogenic 659289 8:116599584-116599585 8:115587357-115587358
17 TRPS1 NM_014112.5(TRPS1):c.489_492del (p.Glu165fs)deletion Pathogenic 652109 8:116631833-116631836 8:115619606-115619609
18 TRPS1 NM_014112.5(TRPS1):c.2700+1G>ASNV Pathogenic 649585 8:116599227-116599227 8:115587000-115587000
19 TRPS1 NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter)SNV Pathogenic 267746 rs886040971 8:116616566-116616566 8:115604339-115604339
20 TRPS1 NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr)SNV Pathogenic/Likely pathogenic 374202 rs1057518972 8:116430587-116430587 8:115418359-115418359
21 TRPS1 NM_014112.5(TRPS1):c.2894G>A (p.Arg965His)SNV Likely pathogenic 5580 rs28939070 8:116427242-116427242 8:115415014-115415014
22 TRPS1 NM_014112.5(TRPS1):c.3116T>C (p.Leu1039Pro)SNV Uncertain significance 582074 rs1286729898 8:116427020-116427020 8:115414792-115414792
23 TRPS1 NM_014112.5(TRPS1):c.423G>T (p.Pro141=)SNV Benign 260333 rs7823278 8:116631902-116631902 8:115619675-115619675

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

73
# Symbol AA change Variation ID SNP ID
1 TRPS1 p.Val894Asp VAR_012807
2 TRPS1 p.Thr901Pro VAR_012808 rs121908433
3 TRPS1 p.Arg908Pro VAR_012809
4 TRPS1 p.Arg908Gln VAR_012810 rs121908435
5 TRPS1 p.Ala919Thr VAR_012811 rs105751897

Expression for Trichorhinophalangeal Syndrome, Type Iii

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

Pathways for Trichorhinophalangeal Syndrome, Type Iii

GO Terms for Trichorhinophalangeal Syndrome, Type Iii

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

# Name GO ID Score Top Affiliating Genes
1 olfactory bulb development GO:0021772 8.96 EXT1 CHD7
2 skeletal system development GO:0001501 8.8 TRPS1 EXT1 CHD7

Sources for Trichorhinophalangeal Syndrome, Type Iii

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....