MCID: TRC092
MIFTS: 48

Trichorhinophalangeal Syndrome, Type I

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

Aliases & Classifications for Trichorhinophalangeal Syndrome, Type I

MalaCards integrated aliases for Trichorhinophalangeal Syndrome, Type I:

Name: Trichorhinophalangeal Syndrome, Type I 53 13 41
Trichorhinophalangeal Dysplasia Type I 12 24 28 69
Trichorhinophalangeal Syndrome Type I 12 24 71 14
Trps1 53 49 24 71
Trichorhinophalangeal Syndrome Type 3 49 28
Sugio-Kajii Syndrome 12 49
Trps I 53 24
Trichorhinophalangeal Syndrome, Type Iii 69
Type Iii Trichorhinophalangeal Syndrome 12
Type I Trichorhinophalangeal Syndrome 12
Trichorhinophalangeal Syndrome Type 1 49
Tricho-Rhino-Phalangeal Syndrome 1 71
Giedion Syndrome 49
Trp Syndrome 24
Trps 3 49

Characteristics:

OMIM:

53
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:

31
trichorhinophalangeal syndrome, type i:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Trichorhinophalangeal Syndrome, Type I

NIH Rare Diseases : 49 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 dysplasia type i, is related to trichorhinophalangeal syndrome, type ii and trichorhinophalangeal syndrome, and has symptoms including arthralgia, thin nail and osteoarthritis. 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.

OMIM : 53 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)

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 : 24 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).

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

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:

53
Skin Nails Hair Nails:
koilonychia
leukonychia
thin nails

Head And Neck Mouth:
narrow palate
thin upper lip

Respiratory:
recurrent respiratory infections

Skeletal Feet:
pes planus
short metatarsals

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

Skeletal Pelvis:
coxa magna
coxa plana
flattened capital femoral epiphyses

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 Ears:
large prominent ears

Head And Neck Eyes:
thin eyebrows (laterally)

Voice:
deep voice

Skeletal Spine:
scoliosis
lordosis

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

Chest RibsSternum Clavicles And Scapulae:
pectus carinatum
winged scapulae

Growth Height:
short stature
normal birth length

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

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

Neurologic Central Nervous System:
normal intelligence
hypotonia (infancy)

Growth Other:
growth deficiency, mild

Head And Neck Nose:
pear-shaped nose


Clinical features from OMIM:

190350

Human phenotypes related to Trichorhinophalangeal Syndrome, Type I:

31 (show all 45)
# Description HPO Frequency HPO Source Accession
1 arthralgia 31 HP:0002829
2 thin nail 31 HP:0001816
3 osteoarthritis 31 HP:0002758
4 osteopenia 31 HP:0000938
5 scoliosis 31 HP:0002650
6 hyperlordosis 31 HP:0003307
7 narrow palate 31 HP:0000189
8 macrotia 31 HP:0000400
9 dental malocclusion 31 HP:0000689
10 recurrent respiratory infections 31 HP:0002205
11 delayed skeletal maturation 31 HP:0002750
12 carious teeth 31 HP:0000670
13 pectus carinatum 31 HP:0000768
14 pes planus 31 HP:0001763
15 short stature 31 HP:0004322
16 long philtrum 31 HP:0000343
17 micrognathia 31 HP:0000347
18 delayed eruption of teeth 31 HP:0000684
19 microdontia 31 HP:0000691
20 scapular winging 31 HP:0003691
21 protruding ear 31 HP:0000411
22 thin upper lip vermilion 31 HP:0000219
23 deep philtrum 31 HP:0002002
24 fine hair 31 HP:0002213
25 sparse lateral eyebrow 31 HP:0005338
26 short metacarpal 31 HP:0010049
27 sparse hair 31 HP:0008070
28 abnormally low-pitched voice 31 HP:0010300
29 slow-growing hair 31 HP:0002217
30 concave nail 31 HP:0001598
31 avascular necrosis of the capital femoral epiphysis 31 HP:0005743
32 generalized hypotonia 31 HP:0001290
33 short metatarsal 31 HP:0010743
34 flat capital femoral epiphysis 31 HP:0003370
35 thin eyebrow 31 HP:0045074
36 leukonychia 31 HP:0001820
37 coxa magna 31 HP:0003279
38 infantile muscular hypotonia 31 HP:0008947
39 accelerated bone age after puberty 31 HP:0002805
40 pear-shaped nose 31 HP:0000447
41 swelling of proximal interphalangeal joints 31 HP:0006253
42 cone-shaped epiphyses of the middle phalanges of the hand 31 HP:0010259
43 ivory epiphyses of the distal phalanges of the hand 31 HP:0010252
44 cone-shaped epiphyses of the proximal phalanges of the hand 31 HP:0010270
45 chin with horizontal crease 31 HP:0011823

UMLS symptoms related to Trichorhinophalangeal Syndrome, Type I:


thin, sparse hair, koilonychia

Drugs & Therapeutics for Trichorhinophalangeal Syndrome, Type I

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

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

Interventional clinical trials:


# 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. Completed 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:

# Genetic test Affiliating Genes
1 Trichorhinophalangeal Dysplasia Type I 28 TRPS1
2 Trichorhinophalangeal Syndrome Type 3 28 TRPS1

Anatomical Context for Trichorhinophalangeal Syndrome, Type I

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

38
Bone, Skin

Publications for Trichorhinophalangeal Syndrome, Type I

Articles related to Trichorhinophalangeal Syndrome, Type I:

(show all 31)
# Title Authors Year
1
Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient. ( 28966516 )
2017
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
Trichorhinophalangeal syndrome type I--clinical, microscopic, and molecular features. ( 24448126 )
2014
4
The use of cone beam computed tomography for the assessment of trichorhinophalangeal syndrome, type I - a case report. ( 23524547 )
2013
5
Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I. ( 24574699 )
2013
6
Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I. ( 23510776 )
2013
7
Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene. ( 23691375 )
2013
8
Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency. ( 22964620 )
2012
9
What is your diagnosis? Trichorhinophalangeal syndrome type I. ( 22474724 )
2012
10
TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability. ( 22127049 )
2012
11
A novel missense mutation in the TRPS1 gene in a case of trichorhinophalangeal syndrome type I (TRPS1) with fish-like malodour. ( 19694891 )
2010
12
Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients. ( 20394624 )
2010
13
A familial case of trichorhinophalangeal syndrome type I. ( 19419465 )
2009
14
Posterior fossa arachnoid cyst, tonsillar herniation, and syringomyelia in trichorhinophalangeal syndrome Type I. ( 18826365 )
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 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
21
Trichorhinophalangeal syndrome type I. ( 9731970 )
1998
22
A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I. ( 9138161 )
1997
23
Craniofacial and oral manifestations of trichorhinophalangeal syndrome type I (Giedion's syndrome): a case report. ( 9247947 )
1997
24
Trichorhinophalangeal syndrome, type I. ( 8034799 )
1994
25
A case of trichorhinophalangeal syndrome, type I. ( 7851130 )
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
Trichorhinophalangeal syndrome type I: symptoms and signs, radiology and genetics. ( 3954456 )
1986
29
8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I. ( 3490425 )
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
# 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 48)
# 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/Likely 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
16 TRPS1 NM_014112.4(TRPS1): c.2794G> A (p.Ala932Thr) single nucleotide variant Pathogenic/Likely pathogenic rs1057518972 GRCh37 Chromosome 8, 116430587: 116430587
17 TRPS1 NG_012383.3: g.(70130_86397)_(87002_255549)del deletion Pathogenic GRCh38 Chromosome 8, 115418453: 115603872
18 TRPS1 NG_012383.3: g.(70130_86397)_(87002_255549)dup duplication Pathogenic GRCh37 Chromosome 8, 116469546: 116616099
19 TRPS1 NG_012383.3: g.(255673_258917)_(259980_?)del deletion Pathogenic GRCh37 Chromosome 8, 116426250: 116430557
20 TRPS1 NG_012383.3: g.(87002_255549)_(259980_?)del deletion Pathogenic GRCh38 Chromosome 8, 115414022: 115587000
21 TRPS1 NM_014112.4(TRPS1): c.3424delA (p.Ser1142Valfs) deletion Pathogenic GRCh37 Chromosome 8, 116426712: 116426712
22 TRPS1 NM_014112.4(TRPS1): c.3140delC (p.Pro1047Leufs) deletion Pathogenic GRCh37 Chromosome 8, 116426996: 116426996
23 TRPS1 NM_014112.4(TRPS1): c.3077delG (p.Ser1026Thrfs) deletion Pathogenic GRCh37 Chromosome 8, 116427059: 116427059
24 TRPS1 NM_014112.4(TRPS1): c.2981_2984delAGAG (p.Glu994Glyfs) deletion Pathogenic GRCh37 Chromosome 8, 116427152: 116427155
25 TRPS1 NM_014112.4(TRPS1): c.2852_2859dup (p.Gly954LysfsTer43) duplication Pathogenic GRCh37 Chromosome 8, 116427277: 116427284
26 TRPS1 NM_014112.4(TRPS1): c.2824-23T> G single nucleotide variant Pathogenic rs752405769 GRCh37 Chromosome 8, 116427335: 116427335
27 TRPS1 NM_014112.4(TRPS1): c.2823+1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 8, 116430557: 116430557
28 TRPS1 NM_014112.4(TRPS1): c.2801G> T (p.Gly934Val) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 116430580: 116430580
29 TRPS1 NM_014112.4(TRPS1): c.2783_2784insC (p.Val929CysfsTer22) insertion Pathogenic GRCh37 Chromosome 8, 116430597: 116430598
30 TRPS1 NM_014112.4(TRPS1): c.2762G> C (p.Arg921Pro) single nucleotide variant Pathogenic rs121908435 GRCh38 Chromosome 8, 115418391: 115418391
31 TRPS1 NM_014112.4(TRPS1): c.2761C> T (p.Arg921Ter) single nucleotide variant Pathogenic rs751565386 GRCh37 Chromosome 8, 116430620: 116430620
32 TRPS1 NM_014112.4(TRPS1): c.2756T> C (p.Leu919Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 115418397: 115418397
33 TRPS1 NM_014112.4(TRPS1): c.2732A> G (p.Asn911Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 116430649: 116430649
34 TRPS1 NM_014112.4(TRPS1): c.2731A> T (p.Asn911Tyr) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 116430650: 116430650
35 TRPS1 NM_014112.4(TRPS1): c.2394dup (p.Ser799GlnfsTer2) duplication Pathogenic GRCh37 Chromosome 8, 116599534: 116599534
36 TRPS1 NM_014112.4(TRPS1): c.2355_2356delGA (p.Lys786Glyfs) deletion Pathogenic GRCh37 Chromosome 8, 116599572: 116599573
37 TRPS1 NM_014112.4(TRPS1): c.2179_2180delGT (p.Val727Serfs) deletion Pathogenic GRCh37 Chromosome 8, 116599748: 116599749
38 TRPS1 NM_014112.4(TRPS1): c.2094C> A (p.Tyr698Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 116616102: 116616102
39 TRPS1 NM_014112.4(TRPS1): c.1882C> T (p.Gln628Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 115604087: 115604087
40 TRPS1 NM_014112.4(TRPS1): c.1460delA (p.Lys487Serfs) deletion Pathogenic GRCh37 Chromosome 8, 116616736: 116616736
41 TRPS1 NM_014112.4(TRPS1): c.1231dup (p.Gln411ProfsTer11) duplication Pathogenic GRCh37 Chromosome 8, 116616965: 116616965
42 TRPS1 NM_014112.4(TRPS1): c.1176dup (p.Asn393Ter) duplication Pathogenic GRCh38 Chromosome 8, 115604793: 115604793
43 TRPS1 NM_014112.4(TRPS1): c.1105C> T (p.Gln369Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 116617091: 116617091
44 TRPS1 NM_014112.4(TRPS1): c.1093C> T (p.Gln365Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 115604876: 115604876
45 TRPS1 NM_014112.4(TRPS1): c.1010_1014dup (p.Cys339GlnfsTer27) duplication Pathogenic GRCh37 Chromosome 8, 116617182: 116617186
46 TRPS1 inv(8)(q13q24.1) inversion Pathogenic
47 TRPS1 inversion Pathogenic
48 TRPS1 NM_014112.4(TRPS1): c.1649_1650delGC (p.Gly550Alafs) deletion Pathogenic GRCh37 Chromosome 8, 116616546: 116616547

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:

# 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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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