MCID: TRC092
MIFTS: 48

Trichorhinophalangeal Syndrome, Type I

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

Aliases & Classifications for Trichorhinophalangeal Syndrome, Type I

MalaCards integrated aliases for Trichorhinophalangeal Syndrome, Type I:

Name: Trichorhinophalangeal Syndrome, Type I 54 13 42
Trichorhinophalangeal Syndrome Type I 12 24 25 71 14
Trichorhinophalangeal Dysplasia Type I 12 25 29 69
Trichorhinophalangeal Syndrome Type 3 50 24 29
Sugio-Kajii Syndrome 12 50 24
Trps1 50 25 71
Trichorhinophalangeal Syndrome, Type Iii 69
Type Iii Trichorhinophalangeal Syndrome 12
Trichorhinophalangeal Syndrome Type Iii 24
Type I Trichorhinophalangeal Syndrome 12
Trichorhinophalangeal Syndrome Type 1 50
Tricho-Rhino-Phalangeal Syndrome 1 71
Giedion Syndrome 50
Trp Syndrome 25
Trps 3 50
Trps I 25
Trps3 24
Trp1 24

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
cone-shaped epiphyses usually not present before age 2 years
allelic to trichorhinophalangeal syndrome, type iii (trps3, )
trps2 (langer-giedion syndrome, ) is a microdeletion syndrome involving deletions of both trps1 and ext1 genes


HPO:

32
trichorhinophalangeal syndrome, type i:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Trichorhinophalangeal Syndrome, Type I

NIH Rare Diseases : 50 trichorhinophalangeal syndrome type 1 (trps1) is an extremely rare inherited multisystem disorder. trps1 is characterized by a distinctive facial appearance that includes sparse scalp hair; a rounded nose; a long, flat area between the nose and the upper lip (philtrum); and a thin upper lip. individuals with this condition also have skeletal abnormalities such as cone-shaped epiphyses in their fingers and toes and short stature. the range and severity of symptoms may vary from case to case. transmission of trps1 is autosomal dominant, linked to mutations in the trps1 gene localized to 8q24.12. last updated: 7/25/2011

MalaCards based summary : Trichorhinophalangeal Syndrome, Type I, also known as trichorhinophalangeal syndrome type i, is related to trichorhinophalangeal syndrome, type iii and schinzel giedion syndrome, and has symptoms including short stature, scoliosis and recurrent respiratory infections. An important gene associated with Trichorhinophalangeal Syndrome, Type I is TRPS1 (Transcriptional Repressor GATA Binding 1), and among its related pathways/superpathways is Development of pulmonary dendritic cells and macrophage subsets. The drugs Aldesleukin and Adjuvants, Immunologic have been mentioned in the context of this disorder. Affiliated tissues include bone and skin.

UniProtKB/Swiss-Prot : 71 Tricho-rhino-phalangeal syndrome 1: Autosomal dominant disorder characterized by craniofacial and skeletal abnormalities. It is allelic with tricho-rhino-phalangeal type 3. Typical features include sparse scalp hair, a bulbous tip of the nose, protruding ears, a long flat philtrum and a thin upper vermilion border. Skeletal defects include cone-shaped epiphyses at the phalanges, hip malformations and short stature.

Genetics Home Reference : 25 Trichorhinophalangeal syndrome type I (TRPS I) is a condition that causes bone and joint malformations; distinctive facial features; and abnormalities of the skin, hair, teeth, sweat glands, and nails. The name of the condition describes some of the areas of the body that are commonly affected: hair (tricho-), nose (rhino-), and fingers and toes (phalangeal).

OMIM : 54
Trichorhinophalangeal syndrome type I is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities and is inherited as an autosomal dominant (Momeni et al., 2000). TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature. (190350)

Disease Ontology : 12 An autosomal dominant disease that 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).

Related Diseases for Trichorhinophalangeal Syndrome, Type I

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

(show all 30)
id Related Disease Score Top Affiliating Genes
1 trichorhinophalangeal syndrome, type iii 23.3 C4A CLEC2A EIF3H ENPP2 ERBB4 EXT1
2 schinzel giedion syndrome 12.3
3 trichorhinophalangeal syndrome type 1 and 3 11.9
4 trichorhinophalangeal syndrome, type ii 11.9
5 exostoses, multiple, type 1 10.8
6 schinzel-giedion midface retraction syndrome 10.8
7 trichorhinophalangeal syndrome 10.5
8 unc80 deficiency 10.5 EXT1 TRPS1
9 vulvar syringoma 10.4 EXT1 EXTL1
10 heritable thoracic aortic disease 10.3 EXT1 EXTL1 TRPS1
11 enthesopathy 10.3 EXT1 EXTL1
12 bone resorption disease 10.1 RUNX2 TNFRSF11B
13 bone deterioration disease 10.0 EXT1 RUNX2 TNFRSF11B
14 cornelia de lange syndrome 9.9
15 hydronephrosis 9.9
16 arachnoiditis 9.8
17 syringomyelia 9.8
18 hypotrichosis 9.8
19 lupus erythematosus 9.8
20 systemic lupus erythematosus 9.8
21 arachnoid cysts 9.8
22 growth hormone deficiency 9.8
23 intellectual disability 9.8
24 avascular necrosis of the femoral head 9.8
25 bacillary angiomatosis 9.8 RUNX2 TNFRSF11B
26 melanoma 9.8
27 pancreatitis 9.8
28 endotheliitis 9.8
29 microphthalmia 9.8
30 mental retardation, autosomal recessive 40 9.5 EIF3H EXT1 EXTL1 RHNO1 TNFRSF11B TRPS1

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



Diseases related to Trichorhinophalangeal Syndrome, Type I

Symptoms & Phenotypes for Trichorhinophalangeal Syndrome, Type I

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature
normal birth length

Respiratory:
recurrent respiratory infections

Skeletal- Hands:
short metacarpals
swelling of proximal interphalangeal joints
cone-shaped epiphyses of middle and proximal phalanges (2nd, 3rd, 4th fingers)
eburnated epiphyses of distal phalanges (2-4-5)

Head And Neck- Teeth:
small teeth
dental malocclusion
carious teeth
delayed teeth eruption

Neurologic- Central Nervous System:
normal intelligence
hypotonia (infancy)

Skin Nails & Hair- Hair:
slow-growing hair
thin eyebrows (laterally)
sparse, thin hair

Growth- Other:
growth deficiency, mild

Head And Neck- Eyes:
thin eyebrows (laterally)

Skeletal:
delayed bone age before puberty
accelerated bone age after puberty
osteopenia (late-onset)
osteoarthritis (late-onset)
joint pain (late-onset)

Voice:
deep voice

Skeletal- Spine:
scoliosis
lordosis

Head And Neck- Face:
micrognathia
prominent, long philtrum
horizontal groove on chin

Head And Neck- Mouth:
narrow palate
thin upper lip

Chest- Ribs Sternum Clavicles And Scapulae:
pectus carinatum
winged scapulae

Skeletal- Feet:
pes planus
short metatarsals

Skin Nails & Hair- Nails:
thin nails
leukonychia
koilonychia

Head And Neck- Ears:
large, prominent ears

Head And Neck- Nose:
pear-shaped nose

Skeletal- Pelvis:
coxa plana
coxa magna
flattened capital femoral epiphyses


Clinical features from OMIM:

190350

Human phenotypes related to Trichorhinophalangeal Syndrome, Type I:

32 (show all 43)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 scoliosis 32 HP:0002650
3 recurrent respiratory infections 32 HP:0002205
4 micrognathia 32 HP:0000347
5 sparse hair 32 HP:0008070
6 narrow palate 32 HP:0000189
7 pectus carinatum 32 HP:0000768
8 long philtrum 32 HP:0000343
9 deep philtrum 32 HP:0002002
10 osteopenia 32 HP:0000938
11 scapular winging 32 HP:0003691
12 osteoarthritis 32 HP:0002758
13 pes planus 32 HP:0001763
14 hyperlordosis 32 HP:0003307
15 fine hair 32 HP:0002213
16 slow-growing hair 32 HP:0002217
17 dental malocclusion 32 HP:0000689
18 microdontia 32 HP:0000691
19 delayed skeletal maturation 32 HP:0002750
20 arthralgia 32 HP:0002829
21 leukonychia 32 HP:0001820
22 thin upper lip vermilion 32 HP:0000219
23 short metacarpal 32 HP:0010049
24 pear-shaped nose 32 HP:0000447
25 carious teeth 32 HP:0000670
26 accelerated bone age after puberty 32 HP:0002805
27 coxa magna 32 HP:0003279
28 swelling of proximal interphalangeal joints 32 HP:0006253
29 macrotia 32 HP:0000400
30 delayed eruption of teeth 32 HP:0000684
31 short metatarsal 32 HP:0010743
32 protruding ear 32 HP:0000411
33 sparse lateral eyebrow 32 HP:0005338
34 abnormally low-pitched voice 32 HP:0010300
35 concave nail 32 HP:0001598
36 avascular necrosis of the capital femoral epiphysis 32 HP:0005743
37 thin nail 32 HP:0001816
38 flat capital femoral epiphysis 32 HP:0003370
39 infantile muscular hypotonia 32 HP:0008947
40 cone-shaped epiphyses of the middle phalanges of the hand 32 HP:0010259
41 ivory epiphyses of the distal phalanges of the hand 32 HP:0010252
42 cone-shaped epiphyses of the proximal phalanges of the hand 32 HP:0010270
43 chin with horizontal crease 32 HP:0011823

UMLS symptoms related to Trichorhinophalangeal Syndrome, Type I:


koilonychia, thin nail, thin, sparse hair

Drugs & Therapeutics for Trichorhinophalangeal Syndrome, Type I

Drugs for Trichorhinophalangeal Syndrome, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aldesleukin Approved Phase 2 85898-30-2, 110942-02-4
2 Adjuvants, Immunologic Phase 2
3 Freund's Adjuvant Phase 2
4 Vaccines Phase 2
5 Anti-HIV Agents Phase 2
6 Anti-Infective Agents Phase 2
7 Anti-Retroviral Agents Phase 2
8 Antiviral Agents Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Vaccine Therapy in Treating Patients With Recurrent or Refractory Metastatic Melanoma Completed NCT00019383 Phase 2
2 Clinical Outcomes After Dry Needling on Cervical Muscles, and Quality of Life, in Patients With Fibromyalgia Syndrome. Active, not recruiting NCT03015662
3 Expressions of TRPV1 in Airway of Asthmatics Not yet recruiting NCT02952066

Search NIH Clinical Center for Trichorhinophalangeal Syndrome, Type I

Cochrane evidence based reviews: trichorhinophalangeal syndrome, type i

Genetic Tests for Trichorhinophalangeal Syndrome, Type I

Genetic tests related to Trichorhinophalangeal Syndrome, Type I:

id Genetic test Affiliating Genes
1 Trichorhinophalangeal Dysplasia Type I 29
2 Trichorhinophalangeal Syndrome Type 3 29
3 Trichorhinophalangeal Syndrome Type I 24 TRPS1

Anatomical Context for Trichorhinophalangeal Syndrome, Type I

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

39
Bone, Skin

Publications for Trichorhinophalangeal Syndrome, Type I

Articles related to Trichorhinophalangeal Syndrome, Type I:

(show all 31)
id Title Authors Year
1
Trichorhinophalangeal syndrome type I--clinical, microscopic, and molecular features. ( 24448126 )
2014
2
Trichorhinophalangeal Syndrome Type I: A Novel Mutation and Perthes-like Changes of the Hip in a Family With 4 Cases Over 3 Generations. ( 25333908 )
2014
3
Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I. ( 24574699 )
2013
4
The use of cone beam computed tomography for the assessment of trichorhinophalangeal syndrome, type I - a case report. ( 23524547 )
2013
5
Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene. ( 23691375 )
2013
6
Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I. ( 23510776 )
2013
7
Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency. ( 22964620 )
2012
8
TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability. ( 22127049 )
2012
9
What is your diagnosis? Trichorhinophalangeal syndrome type I. ( 22474724 )
2012
10
A novel missense mutation in the TRPS1 gene in a case of trichorhinophalangeal syndrome type I (TRPS1) with fish-like malodour. ( 19694891 )
2010
11
Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients. ( 20394624 )
2010
12
A familial case of trichorhinophalangeal syndrome type I. ( 19419465 )
2009
13
Posterior fossa arachnoid cyst, tonsillar herniation, and syringomyelia in trichorhinophalangeal syndrome Type I. ( 18826365 )
2008
14
Hypotrichosis, bulbous nose, and cone-shaped epiphyses in an 8-year-old girl. Trichorhinophalangeal syndrome type I. ( 18950401 )
2008
15
Missense mutation in exon 7 of TRPS1 gene in an Italian family with a mild form of trichorhinophalangeal syndrome type I. ( 17854380 )
2007
16
Orthognathic surgery for a patient with trichorhinophalangeal syndrome type I: a case report. ( 16448909 )
2006
17
V-shaped, longitudinal nail dystrophies in trichorhinophalangeal syndrome type I. ( 16088167 )
2005
18
Orthognathic surgery for trichorhinophalangeal syndrome type I. ( 12045608 )
2002
19
Trichorhinophalangeal syndrome type I: clinical and molecular characterization of 3 members of a family and 1 sporadic case. ( 11708946 )
2001
20
Trichorhinophalangeal syndrome type I. ( 9731970 )
1998
21
Trichorhinophalangeal syndrome type I in monozygotic twins discordant for hip pathology. Report on the morphological evolution of cone-shaped epiphyses and the unusual pattern of skeletal maturation. ( 9799317 )
1998
22
Craniofacial and oral manifestations of trichorhinophalangeal syndrome type I (Giedion's syndrome): a case report. ( 9247947 )
1997
23
A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I. ( 9138161 )
1997
24
A case of trichorhinophalangeal syndrome, type I. ( 7851130 )
1994
25
Trichorhinophalangeal syndrome, type I. ( 8034799 )
1994
26
Trichorhinophalangeal syndrome, type I, with avascular necrosis of the femoral head. ( 8495099 )
1993
27
Trichorhinophalangeal syndrome type I and systemic lupus erythematosus with complement C4A homozygous null alleles in the same family. ( 2802798 )
1989
28
8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I. ( 3490425 )
1986
29
Trichorhinophalangeal syndrome type I: symptoms and signs, radiology and genetics. ( 3954456 )
1986
30
Clinical and scanning electron microscopic findings in a solitary case of Trichorhinophalangeal syndrome type I. ( 6204489 )
1984
31
Variable expressivity in the trichorhinophalangeal syndrome type I. ( 526590 )
1979

Variations for Trichorhinophalangeal Syndrome, Type I

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

71
id Symbol AA change Variation ID SNP ID
1 TRPS1 p.Arg952Cys VAR_038198 rs28939069
2 TRPS1 p.Arg952His VAR_038199 rs28939070

ClinVar genetic disease variations for Trichorhinophalangeal Syndrome, Type I:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 TRPS1 NM_014112.4(TRPS1): c.1053C> A (p.Cys351Ter) single nucleotide variant Pathogenic rs121908430 GRCh37 Chromosome 8, 116617143: 116617143
2 TRPS1 NM_014112.4(TRPS1): c.1870C> T (p.Arg624Ter) single nucleotide variant Pathogenic rs121908431 GRCh37 Chromosome 8, 116616326: 116616326
3 TRPS1 TRPS1, 1-BP INS, 2406G insertion Pathogenic
4 TRPS1 TRPS1, 1-BP INS, 2441T insertion Pathogenic
5 TRPS1 NM_014112.4(TRPS1): c.2557C> T (p.Arg853Ter) single nucleotide variant Pathogenic rs121908432 GRCh37 Chromosome 8, 116599371: 116599371
6 TRPS1 TRPS1, 4-BP INS, 3360GGAG insertion Pathogenic
7 TRPS1 NM_014112.4(TRPS1): c.2740A> C (p.Thr914Pro) single nucleotide variant Pathogenic rs121908433 GRCh37 Chromosome 8, 116430641: 116430641
8 TRPS1 NM_014112.4(TRPS1): c.3315C> G (p.Tyr1105Ter) single nucleotide variant Pathogenic rs121908434 GRCh37 Chromosome 8, 116426821: 116426821
9 TRPS1 NM_014112.4(TRPS1): c.2762G> A (p.Arg921Gln) single nucleotide variant Pathogenic rs121908435 GRCh37 Chromosome 8, 116430619: 116430619
10 TRPS1 NM_014112.4(TRPS1): c.2795C> T (p.Ala932Val) single nucleotide variant Pathogenic rs121908436 GRCh37 Chromosome 8, 116430586: 116430586
11 TRPS1 NM_014112.4(TRPS1): c.2893C> T (p.Arg965Cys) single nucleotide variant Pathogenic rs28939069 GRCh37 Chromosome 8, 116427243: 116427243
12 TRPS1 NM_014112.4(TRPS1): c.2894G> A (p.Arg965His) single nucleotide variant Pathogenic rs28939070 GRCh37 Chromosome 8, 116427242: 116427242
13 TRPS1 NM_014112.4(TRPS1): c.1693C> T (p.Gln565Ter) single nucleotide variant Pathogenic rs864621974 GRCh37 Chromosome 8, 116616503: 116616503
14 TRPS1 NM_014112.4(TRPS1): c.1630C> T (p.Arg544Ter) single nucleotide variant Pathogenic rs886040971 GRCh37 Chromosome 8, 116616566: 116616566
15 TRPS1 NM_014112.4(TRPS1): c.3319delC (p.Leu1107Phefs) deletion Pathogenic rs886042507 GRCh37 Chromosome 8, 116426817: 116426817

Expression for Trichorhinophalangeal Syndrome, Type I

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

Pathways for Trichorhinophalangeal Syndrome, Type I

Pathways related to Trichorhinophalangeal Syndrome, Type I according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 9.74 IKZF1 RUNX2

GO Terms for Trichorhinophalangeal Syndrome, Type I

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

id Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.02 EXT1 EXTL1 RUNX2 TNFRSF11B TRPS1

Molecular functions related to Trichorhinophalangeal Syndrome, Type I according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 8.62 EXT1 EXTL1

Sources for Trichorhinophalangeal Syndrome, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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