MCID: TRC093
MIFTS: 24

Trichorhinophalangeal Syndrome, Type Iii

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Skin diseases, Fetal diseases, Gastrointestinal diseases

Aliases & Classifications for Trichorhinophalangeal Syndrome, Type Iii

MalaCards integrated aliases for Trichorhinophalangeal Syndrome, Type Iii:

Name: Trichorhinophalangeal Syndrome, Type Iii 57 13 40 73
Trps3 57 75
Trichorhinophalangeal Syndrome Type Iii 75
Tricho-Rhino-Phalangeal Syndrome 3 75
Sugio-Kajii Syndrome 57

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:



Summaries for Trichorhinophalangeal Syndrome, Type Iii

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Trichorhinophalangeal Syndrome, Type Iii, also known as trps3, 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

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 11.3
2 trichorhinophalangeal syndrome 9.9

Symptoms & Phenotypes for Trichorhinophalangeal Syndrome, Type Iii

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

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

Human phenotypes related to Trichorhinophalangeal Syndrome, Type Iii:

32 (show all 25)
# 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 short palm 32 HP:0004279
8 short foot 32 HP:0001773
9 protruding ear 32 HP:0000411
10 underdeveloped nasal alae 32 HP:0000430
11 dental crowding 32 HP:0000678
12 increased number of teeth 32 HP:0011069
13 abnormality of the nervous system 32 HP:0000707
14 thin upper lip vermilion 32 HP:0000219
15 short finger 32 HP:0009381
16 sparse lateral eyebrow 32 HP:0005338
17 short metacarpal 32 HP:0010049
18 sparse hair 32 HP:0008070
19 avascular necrosis of the capital femoral epiphysis 32 HP:0005743
20 short phalanx of finger 32 HP:0009803
21 short metatarsal 32 HP:0010743
22 coxa magna 32 HP:0003279
23 accelerated bone age after puberty 32 HP:0002805
24 pear-shaped nose 32 HP:0000447
25 cone-shaped epiphyses of the middle phalanges of the hand 32 HP:0010259

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

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:

# Title Authors Year
1
A novel missense mutation in the TRPS1 gene underlies trichorhinophalangeal syndrome type III. ( 18544079 )
2008

Variations for Trichorhinophalangeal Syndrome, Type Iii

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

75
# 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 rs1057518972Tricho-rhino-phalangeal

ClinVar genetic disease variations for Trichorhinophalangeal Syndrome, Type Iii:

6
(show all 22)
# 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.2894G> A (p.Arg965His) single nucleotide variant Likely pathogenic rs28939070 GRCh37 Chromosome 8, 116427242: 116427242
8 TRPS1 NM_014112.4(TRPS1): c.2894G> A (p.Arg965His) single nucleotide variant Likely pathogenic rs28939070 GRCh38 Chromosome 8, 115415014: 115415014
9 TRPS1 NM_014112.4(TRPS1): c.2700+10T> C single nucleotide variant Benign rs76046106 GRCh37 Chromosome 8, 116599218: 116599218
10 TRPS1 NM_014112.4(TRPS1): c.2700+10T> C single nucleotide variant Benign rs76046106 GRCh38 Chromosome 8, 115586991: 115586991
11 TRPS1 NM_014112.4(TRPS1): c.423G> T (p.Pro141=) single nucleotide variant Benign rs7823278 GRCh37 Chromosome 8, 116631902: 116631902
12 TRPS1 NM_014112.4(TRPS1): c.423G> T (p.Pro141=) single nucleotide variant Benign rs7823278 GRCh38 Chromosome 8, 115619675: 115619675
13 TRPS1 NM_014112.4(TRPS1): c.1630C> T (p.Arg544Ter) single nucleotide variant Pathogenic rs886040971 GRCh37 Chromosome 8, 116616566: 116616566
14 TRPS1 NM_014112.4(TRPS1): c.1630C> T (p.Arg544Ter) single nucleotide variant Pathogenic rs886040971 GRCh38 Chromosome 8, 115604339: 115604339
15 TRPS1 NM_014112.4(TRPS1): c.1788T> C (p.Tyr596=) single nucleotide variant Benign rs34094363 GRCh38 Chromosome 8, 115604181: 115604181
16 TRPS1 NM_014112.4(TRPS1): c.1788T> C (p.Tyr596=) single nucleotide variant Benign rs34094363 GRCh37 Chromosome 8, 116616408: 116616408
17 TRPS1 NM_014112.4(TRPS1): c.2658G> T (p.Ser886=) single nucleotide variant Benign/Likely benign rs191525942 GRCh38 Chromosome 8, 115587043: 115587043
18 TRPS1 NM_014112.4(TRPS1): c.2658G> T (p.Ser886=) single nucleotide variant Benign/Likely benign rs191525942 GRCh37 Chromosome 8, 116599270: 116599270
19 TRPS1 NM_014112.4(TRPS1): c.1649_1650delGC (p.Gly550Alafs) deletion Pathogenic GRCh38 Chromosome 8, 115604319: 115604320
20 TRPS1 NM_014112.4(TRPS1): c.1649_1650delGC (p.Gly550Alafs) deletion Pathogenic GRCh37 Chromosome 8, 116616546: 116616547
21 TRPS1 NM_014112.4(TRPS1): c.2195_2204delAGGACATCAC (p.Gln732Leufs) deletion Pathogenic GRCh37 Chromosome 8, 116599724: 116599733
22 TRPS1 NM_014112.4(TRPS1): c.2195_2204delAGGACATCAC (p.Gln732Leufs) deletion Pathogenic GRCh38 Chromosome 8, 115587497: 115587506

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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