TRPS3
MCID: TRC093
MIFTS: 30

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 57 13 40 72
Trichorhinophalangeal Syndrome Type 3 12 53 29 6
Trichorhinophalangeal Syndrome Type Iii 12 74 15
Sugio-Kajii Syndrome 57 53
Trps3 57 74
Tricho-Rhino-Phalangeal Syndrome 3 74
Trps 3 53

Characteristics:

OMIM:

57
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:

32
trichorhinophalangeal syndrome, type iii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080376
OMIM 57 190351
MedGen 42 C1860823
UMLS 72 C1860823

Summaries for Trichorhinophalangeal Syndrome, Type Iii

NIH Rare Diseases : 53 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 brachydactyly and trichorhinophalangeal syndrome, type i. 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 : 74 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 brachydactyly 29.5 TRPS1 GDF5
2 trichorhinophalangeal syndrome, type i 11.7
3 ruvalcaba syndrome 10.6
4 trichorhinophalangeal syndrome 10.4

Symptoms & Phenotypes for Trichorhinophalangeal Syndrome, Type Iii

Human phenotypes related to Trichorhinophalangeal Syndrome, Type Iii:

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 osteopenia 32 HP:0000938
2 scoliosis 32 HP:0002650
3 delayed skeletal maturation 32 HP:0002750
4 smooth philtrum 32 HP:0000319
5 short stature 32 HP:0004322
6 long philtrum 32 HP:0000343
7 protruding ear 32 HP:0000411
8 short palm 32 HP:0004279
9 short foot 32 HP:0001773
10 underdeveloped nasal alae 32 HP:0000430
11 brachydactyly 32 HP:0001156
12 dental crowding 32 HP:0000678
13 increased number of teeth 32 HP:0011069
14 abnormality of the nervous system 32 HP:0000707
15 thin upper lip vermilion 32 HP:0000219
16 short finger 32 HP:0009381
17 sparse lateral eyebrow 32 HP:0005338
18 short metacarpal 32 HP:0010049
19 sparse hair 32 HP:0008070
20 avascular necrosis of the capital femoral epiphysis 32 HP:0005743
21 short phalanx of finger 32 HP:0009803
22 short metatarsal 32 HP:0010743
23 coxa magna 32 HP:0003279
24 accelerated bone age after puberty 32 HP:0002805
25 pear-shaped nose 32 HP:0000447
26 cone-shaped epiphyses of the middle phalanges of the hand 32 HP:0010259

Symptoms via clinical synopsis from OMIM:

57
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

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:

41
Bone

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. 8 71
11112658 2001
2
Sporadic case of trichorhinophalangeal syndrome type III in a European patient. 38 8
10405449 1999
3
Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes. 71
11950061 2002
4
Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III. 71
11807863 2002
5
Another family with tricho-rhino-phalangeal syndrome type III (Sugio-Kajii syndrome). 8
8209886 1994
6
The Sugio-Kajii syndrome, proposed tricho-rhino-phalangeal syndrome type III. 8
3740106 1986
7
Ruvalcaba syndrome. 8
4025405 1985
8
Ruvalcaba syndrome: autosomal dominant inheritance. 8
6517098 1984
9
A novel missense mutation in the TRPS1 gene underlies trichorhinophalangeal syndrome type III. 38
18544079 2008
10
Trichorhinophalangeal syndrome type III in Turkish siblings. 38
17062490 2006
11
Trichorhinophalangeal syndrome type III. 38
8993967 1996

Variations for Trichorhinophalangeal Syndrome, Type Iii

ClinVar genetic disease variations for Trichorhinophalangeal Syndrome, Type Iii:

6 (show all 26)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TRPS1 NM_014112.5(TRPS1): c.2761C> T (p.Arg921Ter) single nucleotide variant Pathogenic rs751565386 8:116430620-116430620 8:115418392-115418392
2 TRPS1 NM_014112.5(TRPS1): c.1649_1650del (p.Gly550fs) deletion Pathogenic rs1554596063 8:116616546-116616547 8:115604319-115604320
3 TRPS1 NM_014112.5(TRPS1): c.2195_2204del (p.Gln732fs) deletion Pathogenic rs1554593085 8:116599724-116599733 8:115587497-115587506
4 TRPS1 NM_014112.5(TRPS1): c.2740A> C (p.Thr914Pro) single nucleotide variant Pathogenic rs121908433 8:116430641-116430641 8:115418413-115418413
5 TRPS1 NM_014112.5(TRPS1): c.2762G> A (p.Arg921Gln) single nucleotide variant Pathogenic rs121908435 8:116430619-116430619 8:115418391-115418391
6 TRPS1 NM_014112.5(TRPS1): c.2795C> T (p.Ala932Val) single nucleotide variant Pathogenic rs121908436 8:116430586-116430586 8:115418358-115418358
7 TRPS1 NM_014112.5(TRPS1): c.2893C> T (p.Arg965Cys) single nucleotide variant Pathogenic rs28939069 8:116427243-116427243 8:115415015-115415015
8 TRPS1 NM_014112.5(TRPS1): c.2568T> G (p.Tyr856Ter) single nucleotide variant Pathogenic 8:116599360-116599360 8:115587133-115587133
9 TRPS1 NC_000008.10: g.(?_116426231)_(116635884_?)del deletion Pathogenic 8:116426231-116635884 :0-0
10 TRPS1 NM_014112.5(TRPS1): c.1014_1017dup (p.Gln340fs) duplication Pathogenic 8:116617179-116617182 8:115604952-115604955
11 TRPS1 NC_000008.10: g.(?_116616080)_(116635884_?)dup duplication Pathogenic 8:116616080-116635884 8:115603853-115623657
12 TRPS1 NM_014112.5(TRPS1): c.2880del (p.Arg961fs) deletion Pathogenic 8:116427256-116427256 8:115415029-115415029
13 TRPS1 NM_014112.5(TRPS1): c.2641C> T (p.Gln881Ter) single nucleotide variant Pathogenic 8:116599287-116599287 8:115587060-115587060
14 TRPS1 NM_014112.5(TRPS1): c.2337_2338GA[3] (p.Lys782fs) short repeat Pathogenic 8:116599584-116599585 8:115587358-115587359
15 TRPS1 NM_014112.5(TRPS1): c.489_492del (p.Glu165fs) deletion Pathogenic 8:116631833-116631836 8:115619606-115619609
16 TRPS1 NM_014112.5(TRPS1): c.2700+1G> A single nucleotide variant Pathogenic 8:116599227-116599227 8:115587000-115587000
17 TRPS1 NM_014112.5(TRPS1): c.1630C> T (p.Arg544Ter) single nucleotide variant Pathogenic rs886040971 8:116616566-116616566 8:115604339-115604339
18 TRPS1 NM_014112.5(TRPS1): c.2086C> T (p.Arg696Ter) single nucleotide variant Pathogenic 8:116616110-116616110 8:115603883-115603883
19 TRPS1 NM_014112.5(TRPS1): c.1695_1705del (p.Gln565fs) deletion Pathogenic 8:116616491-116616501 8:115604264-115604274
20 TRPS1 NM_014112.5(TRPS1): c.2794G> A (p.Ala932Thr) single nucleotide variant Pathogenic/Likely pathogenic rs1057518972 8:116430587-116430587 8:115418359-115418359
21 TRPS1 NM_014112.5(TRPS1): c.2894G> A (p.Arg965His) single nucleotide variant Likely pathogenic rs28939070 8:116427242-116427242 8:115415014-115415014
22 TRPS1 NM_014112.5(TRPS1): c.3116T> C (p.Leu1039Pro) single nucleotide variant Uncertain significance 8:116427020-116427020 8:115414792-115414792
23 TRPS1 NM_014112.5(TRPS1): c.2658G> T (p.Ser886=) single nucleotide variant Benign/Likely benign rs191525942 8:116599270-116599270 8:115587043-115587043
24 TRPS1 NM_014112.5(TRPS1): c.1788T> C (p.Tyr596=) single nucleotide variant Benign rs34094363 8:116616408-116616408 8:115604181-115604181
25 TRPS1 NM_014112.5(TRPS1): c.2700+10T> C single nucleotide variant Benign rs76046106 8:116599218-116599218 8:115586991-115586991
26 TRPS1 NM_014112.5(TRPS1): c.423G> T (p.Pro141=) single nucleotide variant Benign rs7823278 8:116631902-116631902 8:115619675-115619675

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

74
# 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

Sources for Trichorhinophalangeal Syndrome, Type Iii

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