TRPS3
MCID: TRC093
MIFTS: 31

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 58 13 41 74
Trichorhinophalangeal Syndrome Type 3 12 54 30 6
Trichorhinophalangeal Syndrome Type Iii 12 76 15
Sugio-Kajii Syndrome 58 54
Trps3 58 76
Tricho-Rhino-Phalangeal Syndrome 3 76
Trps 3 54

Characteristics:

OMIM:

58
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:

33
trichorhinophalangeal syndrome, type iii:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Trichorhinophalangeal Syndrome, Type Iii

NIH Rare Diseases : 54 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 related phenotypes are osteopenia and scoliosis

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 : 76 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.

Description 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 31.3 TRPS1 RHNO1
2 trichorhinophalangeal syndrome 10.4
3 trichorhinophalangeal syndrome, type ii 9.7 TRPS1 RHNO1
4 brachydactyly 9.6 TRPS1 GDF5

Symptoms & Phenotypes for Trichorhinophalangeal Syndrome, Type Iii

Human phenotypes related to Trichorhinophalangeal Syndrome, Type Iii:

33 (show all 26)
# Description HPO Frequency HPO Source Accession
1 osteopenia 33 HP:0000938
2 scoliosis 33 HP:0002650
3 delayed skeletal maturation 33 HP:0002750
4 smooth philtrum 33 HP:0000319
5 short stature 33 HP:0004322
6 long philtrum 33 HP:0000343
7 short palm 33 HP:0004279
8 short foot 33 HP:0001773
9 protruding ear 33 HP:0000411
10 underdeveloped nasal alae 33 HP:0000430
11 dental crowding 33 HP:0000678
12 increased number of teeth 33 HP:0011069
13 brachydactyly 33 HP:0001156
14 abnormality of the nervous system 33 HP:0000707
15 thin upper lip vermilion 33 HP:0000219
16 short finger 33 HP:0009381
17 sparse lateral eyebrow 33 HP:0005338
18 short metacarpal 33 HP:0010049
19 sparse hair 33 HP:0008070
20 avascular necrosis of the capital femoral epiphysis 33 HP:0005743
21 short phalanx of finger 33 HP:0009803
22 short metatarsal 33 HP:0010743
23 coxa magna 33 HP:0003279
24 accelerated bone age after puberty 33 HP:0002805
25 pear-shaped nose 33 HP:0000447
26 cone-shaped epiphyses of the middle phalanges of the hand 33 HP:0010259

Symptoms via clinical synopsis from OMIM:

58
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

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

Neurologic Central Nervous System:
normal intelligence

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

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

Growth Weight:
normal birth weight

Skeletal Feet:
short metatarsals
short feet

Head And Neck Mouth:
thin upper lip

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

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00236-A-1 8.92 GDF5 RHNO1
2 Decreased homologous recombination repair frequency GR00236-A-2 8.92 GDF5 RHNO1

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, and Quality of Life, in Patients With Fibromyalgia Syndrome. Completed NCT03015662 Not Applicable

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 30 TRPS1

Anatomical Context for Trichorhinophalangeal Syndrome, Type Iii

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

42
Bone

Publications for Trichorhinophalangeal Syndrome, Type Iii

Articles related to Trichorhinophalangeal Syndrome, Type Iii:

# Title Authors Year
1
A novel missense mutation in the TRPS1 gene underlies trichorhinophalangeal syndrome type III. ( 18544079 )
2008
2
Trichorhinophalangeal syndrome type III in Turkish siblings. ( 17062490 )
2006
3
Sporadic case of trichorhinophalangeal syndrome type III in a European patient. ( 10405449 )
1999
4
Trichorhinophalangeal syndrome type III. ( 8993967 )
1996

Variations for Trichorhinophalangeal Syndrome, Type Iii

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

76
# 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

ClinVar genetic disease variations for Trichorhinophalangeal Syndrome, Type Iii:

6 (show all 39)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPS1 NM_014112.4(TRPS1): c.2740A> C (p.Thr914Pro) single nucleotide variant Pathogenic rs121908433 GRCh37 Chromosome 8, 116430641: 116430641
2 TRPS1 NM_014112.4(TRPS1): c.2740A> C (p.Thr914Pro) single nucleotide variant Pathogenic rs121908433 GRCh38 Chromosome 8, 115418413: 115418413
3 TRPS1 NM_014112.4(TRPS1): c.2762G> A (p.Arg921Gln) single nucleotide variant Pathogenic rs121908435 GRCh37 Chromosome 8, 116430619: 116430619
4 TRPS1 NM_014112.4(TRPS1): c.2762G> A (p.Arg921Gln) single nucleotide variant Pathogenic rs121908435 GRCh38 Chromosome 8, 115418391: 115418391
5 TRPS1 NM_014112.4(TRPS1): c.2795C> T (p.Ala932Val) single nucleotide variant Pathogenic rs121908436 GRCh37 Chromosome 8, 116430586: 116430586
6 TRPS1 NM_014112.4(TRPS1): c.2795C> T (p.Ala932Val) single nucleotide variant Pathogenic rs121908436 GRCh38 Chromosome 8, 115418358: 115418358
7 TRPS1 NM_014112.4(TRPS1): c.2893C> T (p.Arg965Cys) single nucleotide variant Pathogenic rs28939069 GRCh37 Chromosome 8, 116427243: 116427243
8 TRPS1 NM_014112.4(TRPS1): c.2893C> T (p.Arg965Cys) single nucleotide variant Pathogenic rs28939069 GRCh38 Chromosome 8, 115415015: 115415015
9 TRPS1 NM_014112.4(TRPS1): c.2894G> A (p.Arg965His) single nucleotide variant Likely pathogenic rs28939070 GRCh37 Chromosome 8, 116427242: 116427242
10 TRPS1 NM_014112.4(TRPS1): c.2894G> A (p.Arg965His) single nucleotide variant Likely pathogenic rs28939070 GRCh38 Chromosome 8, 115415014: 115415014
11 TRPS1 NM_014112.4(TRPS1): c.2700+10T> C single nucleotide variant Benign rs76046106 GRCh37 Chromosome 8, 116599218: 116599218
12 TRPS1 NM_014112.4(TRPS1): c.2700+10T> C single nucleotide variant Benign rs76046106 GRCh38 Chromosome 8, 115586991: 115586991
13 TRPS1 NM_014112.4(TRPS1): c.423G> T (p.Pro141=) single nucleotide variant Benign rs7823278 GRCh37 Chromosome 8, 116631902: 116631902
14 TRPS1 NM_014112.4(TRPS1): c.423G> T (p.Pro141=) single nucleotide variant Benign rs7823278 GRCh38 Chromosome 8, 115619675: 115619675
15 TRPS1 NM_014112.4(TRPS1): c.1630C> T (p.Arg544Ter) single nucleotide variant Pathogenic rs886040971 GRCh37 Chromosome 8, 116616566: 116616566
16 TRPS1 NM_014112.4(TRPS1): c.1630C> T (p.Arg544Ter) single nucleotide variant Pathogenic rs886040971 GRCh38 Chromosome 8, 115604339: 115604339
17 TRPS1 NM_014112.4(TRPS1): c.1788T> C (p.Tyr596=) single nucleotide variant Benign rs34094363 GRCh38 Chromosome 8, 115604181: 115604181
18 TRPS1 NM_014112.4(TRPS1): c.1788T> C (p.Tyr596=) single nucleotide variant Benign rs34094363 GRCh37 Chromosome 8, 116616408: 116616408
19 TRPS1 NM_014112.4(TRPS1): c.2658G> T (p.Ser886=) single nucleotide variant Benign/Likely benign rs191525942 GRCh38 Chromosome 8, 115587043: 115587043
20 TRPS1 NM_014112.4(TRPS1): c.2658G> T (p.Ser886=) single nucleotide variant Benign/Likely benign rs191525942 GRCh37 Chromosome 8, 116599270: 116599270
21 TRPS1 NM_014112.4(TRPS1): c.2794G> A (p.Ala932Thr) single nucleotide variant Pathogenic/Likely pathogenic rs1057518972 GRCh38 Chromosome 8, 115418359: 115418359
22 TRPS1 NM_014112.4(TRPS1): c.2794G> A (p.Ala932Thr) single nucleotide variant Pathogenic/Likely pathogenic rs1057518972 GRCh37 Chromosome 8, 116430587: 116430587
23 TRPS1 NM_014112.4(TRPS1): c.1649_1650delGC (p.Gly550Alafs) deletion Pathogenic rs1554596063 GRCh38 Chromosome 8, 115604319: 115604320
24 TRPS1 NM_014112.4(TRPS1): c.1649_1650delGC (p.Gly550Alafs) deletion Pathogenic rs1554596063 GRCh37 Chromosome 8, 116616546: 116616547
25 TRPS1 NM_014112.4(TRPS1): c.2195_2204delAGGACATCAC (p.Gln732Leufs) deletion Pathogenic rs1554593085 GRCh38 Chromosome 8, 115587497: 115587506
26 TRPS1 NM_014112.4(TRPS1): c.2195_2204delAGGACATCAC (p.Gln732Leufs) deletion Pathogenic rs1554593085 GRCh37 Chromosome 8, 116599724: 116599733
27 TRPS1 NM_014112.4(TRPS1): c.2086C> T (p.Arg696Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 115603883: 115603883
28 TRPS1 NM_014112.4(TRPS1): c.2086C> T (p.Arg696Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 116616110: 116616110
29 TRPS1 NM_014112.4(TRPS1): c.1695_1705delGCTCCATAACA (p.Gln565Hisfs) deletion Pathogenic GRCh38 Chromosome 8, 115604264: 115604274
30 TRPS1 NM_014112.4(TRPS1): c.1695_1705delGCTCCATAACA (p.Gln565Hisfs) deletion Pathogenic GRCh37 Chromosome 8, 116616491: 116616501
31 TRPS1 NM_014112.4(TRPS1): c.3116T> C (p.Leu1039Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 116427020: 116427020
32 TRPS1 NM_014112.4(TRPS1): c.3116T> C (p.Leu1039Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 115414792: 115414792
33 TRPS1 NM_014112.4(TRPS1): c.2568T> G (p.Tyr856Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 115587133: 115587133
34 TRPS1 NM_014112.4(TRPS1): c.2568T> G (p.Tyr856Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 116599360: 116599360
35 TRPS1 NC_000008.10: g.(?_116426231)_(116635884_?)del deletion Pathogenic GRCh37 Chromosome 8, 116426231: 116635884
36 TRPS1 NM_014112.4(TRPS1): c.1014_1017dup (p.Gln340Leufs) duplication Pathogenic GRCh37 Chromosome 8, 116617179: 116617182
37 TRPS1 NM_014112.4(TRPS1): c.1014_1017dup (p.Gln340Leufs) duplication Pathogenic GRCh38 Chromosome 8, 115604952: 115604955
38 TRPS1 NC_000008.11: g.(?_115603853)_(115623657_?)dup duplication Uncertain significance GRCh38 Chromosome 8, 115603853: 115623657
39 TRPS1 NC_000008.11: g.(?_115603853)_(115623657_?)dup duplication Uncertain significance GRCh37 Chromosome 8, 116616080: 116635884

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

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