TRPS2
MCID: TRC091
MIFTS: 49

Trichorhinophalangeal Syndrome, Type Ii (TRPS2)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Trichorhinophalangeal Syndrome, Type Ii

MalaCards integrated aliases for Trichorhinophalangeal Syndrome, Type Ii:

Name: Trichorhinophalangeal Syndrome, Type Ii 56 13 39
Langer-Giedion Syndrome 56 12 74 25 58 29 54 6 43 71
Trichorhinophalangeal Syndrome Type Ii 12 52 25 15
Lgs 56 74 52 25
Trichorhinophalangeal Syndrome Type 2 12 52 58
Trps2 56 25 73
Chromosome 8q24.1 Deletion Syndrome 56 25
Giedion-Langer Syndrome 52 25
Deletion 8q24.1 52 58
Monosomy 8q24.1 52 58
Trichorhinophalangeal Syndrome with Exostosis 25
Tricho-Rhino-Phalangeal Syndrome Type Ii 25
Trichorhinophalangeal Dysplasia Type Ii 12
Tricho-Rhino-Phalangeal Syndrome 2 73
Langer-Giedion Syndrome; Lgs 56
Langer Giedion Syndrome 52
Trps Ii 25
Trps 2 52

Characteristics:

Orphanet epidemiological data:

58
trichorhinophalangeal syndrome type 2
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
male predominance
majority of cases sporadic


HPO:

31
trichorhinophalangeal syndrome, type ii:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Trichorhinophalangeal Syndrome, Type Ii

Genetics Home Reference : 25 Trichorhinophalangeal syndrome type II (TRPS II) is a condition that causes bone and joint malformations; distinctive facial features; intellectual disability; 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). People with this condition have multiple noncancerous (benign) bone tumors called osteochondromas. Affected individuals may develop a few to several hundred osteochondromas. These bone growths typically begin in infancy to early childhood and stop forming around adolescence. Depending on the location of the osteochondromas, they can cause pain, limited range of joint movement, or damage to blood vessels or the spinal cord. Individuals with TRPS II may have reduced bone mineral density (osteopenia). Affected individuals often have slow growth before and after birth resulting in short stature. In TRPS II, the ends (epiphyses) of one or more bones in the fingers or toes are abnormally cone-shaped. Additionally, the fingernails and toenails are typically thin and abnormally formed. Children with TRPS II often have an unusually large range of joint movement (hypermobility). However, as osteochondromas begin to develop, typically starting between infancy and mid-childhood, the joints begin to stiffen, leading to decreased mobility. Individuals with TRPS II may also have a misalignment of the hip joints (hip dysplasia), which often develops in early adulthood but can occur in infancy or childhood. The characteristic appearance of individuals with TRPS II involves thick eyebrows; a broad nose with a rounded tip; a long, smooth area between the nose and the upper lip (philtrum); a thin upper lip; and small teeth that are either decreased (oligodontia) or increased (supernumerary) in number. Almost all affected individuals have sparse scalp hair. Males are particularly affected by hair loss, with many being nearly or completely bald soon after puberty. Some children with this condition have loose skin, but the skin becomes tighter over time. Individuals with TRPS II may experience excessive sweating (hyperhidrosis). Most individuals with TRPS II have mild intellectual disability.

MalaCards based summary : Trichorhinophalangeal Syndrome, Type Ii, also known as langer-giedion syndrome, is related to cornelia de lange syndrome 4 with or without midline brain defects and trichorhinophalangeal syndrome, and has symptoms including sparse scalp hair, thin upper lip and rounded nose. An important gene associated with Trichorhinophalangeal Syndrome, Type Ii is EXT1 (Exostosin Glycosyltransferase 1). Affiliated tissues include epiphysis, skin and bone, and related phenotypes are delayed skeletal maturation and short stature

Disease Ontology : 12 A syndrome that has material basis in mutation of the EXT1 and TRPS1 gene which results in multiple exostosis along with short stature and cone-shaped ends located in epiphysis. The disease has symptom sparse scalp hair, has symptom thin upper lip, has symptom rounded nose.

NIH Rare Diseases : 52 Trichorhinophalangeal syndrome type 2 (TRPS2), also known as Langer-Giedion syndrome, is an extremely rare inherited multisystem disorder. The condition is characterized by intellectual deficit and numerous other abnormalities including excess folds of skin, multiple bony growths (exostoses), characteristic facial features, and cone-shaped phalangeal epiphyses (the growing ends of the bones in the fingers). The range and severity of symptoms varies greatly from person to person. TRPS2 is transmitted in an autosomal dominant manner, but many sporadic cases have been reported. TRPS2 is due to the absence of genetic material (chromosomal deletions ) on chromosome 8 , which often includes the TRPS1 gene and EXT1 gene. The size of the deletion varies from person to person.

OMIM : 56 Trichorhinophalangeal syndrome type II (TRPS2), or Langer-Giedion syndrome (LGS), is a contiguous gene deletion syndrome characterized by cone-shaped epiphyses, multiple cartilaginous exostoses, and facial dysmorphism including bulbous nose, elongated upper lip with flat philtrum, and large protruding ears. Scalp hair is usually sparse, with thin and brittle hair shafts. Intellectual development is mildly to moderately impaired. Seizures have occasionally been reported. Other skeletal or orthopedic, urogenital, and endocrine anomalies may be present (summary by Schinzel et al., 2013). (150230)

UniProtKB/Swiss-Prot : 73 Tricho-rhino-phalangeal syndrome 2: A syndrome that combines the clinical features of tricho-rhino- phalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation.

Wikipedia : 74 Langer-Giedion syndrome (LGS) is a very uncommon autosomal dominant genetic disorder caused by a... more...

Related Diseases for Trichorhinophalangeal Syndrome, Type Ii

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

(show top 50) (show all 126)
# Related Disease Score Top Affiliating Genes
1 cornelia de lange syndrome 4 with or without midline brain defects 31.3 TRPS1 RAD21 EXT1
2 trichorhinophalangeal syndrome 31.2 TRPS1 RAD21 EXT1
3 hereditary multiple exostoses 31.1 TRPS1 EXT2 EXT1
4 hereditary multiple osteochondromas 30.5 EXT2 EXT1
5 osteochondroma 30.5 EXT2 EXT1
6 metachondromatosis 30.3 EXT2 EXT1
7 trichorhinophalangeal syndrome, type i 30.1 TRPS1 IKZF1 EXT1
8 lennox-gastaut syndrome 12.3
9 exostoses, multiple, type i 11.7
10 lymphomatoid granulomatosis 11.2
11 cornelia de lange syndrome 1 10.6
12 cornelia de lange syndrome 10.6
13 tibial hemimelia 10.5
14 alacrima, achalasia, and mental retardation syndrome 10.5
15 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
16 exostosis 10.5
17 cleft palate, isolated 10.4
18 microcephaly 10.4
19 growth hormone deficiency 10.4
20 hemimelia 10.4
21 partial deletion of the long arm of chromosome 8 10.4
22 respiratory failure 10.4
23 nephrotic syndrome 10.4
24 familial nephrotic syndrome 10.4
25 hypotrichosis 10.4
26 aminoaciduria 10.4
27 trichorhinophalangeal syndrome, type iii 10.4 TRPS1 EXT1
28 dysplasia epiphysealis hemimelica 10.3 EXT2 EXT1
29 aniridia 1 10.3
30 total anomalous pulmonary venous return 1 10.3
31 gastroesophageal reflux 10.3
32 carpal tunnel syndrome 10.3
33 beckwith-wiedemann syndrome 10.3
34 legg-calve-perthes disease 10.3
35 hemifacial microsomia 10.3
36 prader-willi syndrome 10.3
37 chromosome 2q35 duplication syndrome 10.3
38 arachnoid cysts, intracranial 10.3
39 autism 10.3
40 cohen syndrome 10.3
41 cryptorchidism, unilateral or bilateral 10.3
42 miller-dieker lissencephaly syndrome 10.3
43 hypothyroidism, congenital, nongoitrous, 4 10.3
44 wilms tumor 5 10.3
45 branchiootic syndrome 1 10.3
46 brachydactyly 10.3
47 scoliosis 10.3
48 osteonecrosis 10.3
49 infant gynecomastia 10.3
50 entropion 10.3

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



Diseases related to Trichorhinophalangeal Syndrome, Type Ii

Symptoms & Phenotypes for Trichorhinophalangeal Syndrome, Type Ii

Human phenotypes related to Trichorhinophalangeal Syndrome, Type Ii:

58 31 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
4 thin upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000219
5 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
6 protruding ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000411
7 deep philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002002
8 sparse scalp hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002209
9 bulbous nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000414
10 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
11 multiple long-bone exostoses 58 31 hallmark (90%) Very frequent (99-80%) HP:0005039
12 cone-shaped epiphyses of the phalanges of the hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0010230
13 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
14 thick eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0000574
15 joint dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0001373
16 aplasia/hypoplasia of the mandible 58 31 frequent (33%) Frequent (79-30%) HP:0009118
17 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
18 redundant skin 58 31 frequent (33%) Frequent (79-30%) HP:0001582
19 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
20 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
21 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
22 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
23 genu valgum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002857
24 thick nasal alae 58 31 occasional (7.5%) Occasional (29-5%) HP:0009928
25 recurrent urinary tract infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0000010
26 increased number of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0011069
27 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
28 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
29 bilateral single transverse palmar creases 58 31 occasional (7.5%) Occasional (29-5%) HP:0007598
30 vesicoureteral reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0000076
31 talipes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001883
32 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
33 abnormal palate morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000174
34 avascular necrosis of the capital femoral epiphysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005743
35 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
36 hearing impairment 31 HP:0000365
37 macrotia 31 HP:0000400
38 scoliosis 31 HP:0002650
39 abnormality of the dentition 58 Occasional (29-5%)
40 delayed speech and language development 31 HP:0000750
41 malformation of the heart and great vessels 58 Occasional (29-5%)
42 recurrent upper respiratory tract infections 31 HP:0002788
43 growth delay 58 Occasional (29-5%)
44 nevus 31 HP:0003764
45 scapular winging 31 HP:0003691
46 joint hypermobility 31 HP:0001382
47 deeply set eye 31 HP:0000490
48 exostoses 58 Very frequent (99-80%)
49 generalized hypotonia 31 HP:0001290
50 fragile nails 31 HP:0001808

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis

Respiratory Airways:
recurrent upper respiratory tract infections

Head And Neck Nose:
bulbous nose
broad nasal bridge
prominent philtrum
tented, thickened alae nasi

Genitourinary Ureters:
hydrometrocolpos
ureteral reflux

Skeletal Hands:
syndactyly
cone-shaped epiphyses of phalanges

Neurologic Central Nervous System:
hypotonia
mental retardation
delayed speech development

Growth Height:
postnatal onset of mild growth retardation

Skin Nails Hair Nails:
brittle nails

Head And Neck Head:
microcephaly

Skin Nails Hair Hair:
sparse scalp hair

Chest Ribs Sternum Clavicles And Scapulae:
rib exostoses
scapulae exostoses
winged scapulae

Head And Neck Eyes:
exotropia
deep-set eyes

Skin Nails Hair Skin:
redundant skin in infancy
nevi

Head And Neck Ears:
hearing loss
large protruding ears

Skeletal Limbs:
multiple exostoses of long tubular bones
perthes-like femoral head changes
predisposition to fracture
hyperextensible joints

Laboratory Abnormalities:
chromosome deletion extending from 8q24.11 to 8q24.13

Clinical features from OMIM:

150230

Symptoms:

12
  • sparse scalp hair
  • thin upper lip
  • rounded nose

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.58 MED30
2 Decreased viability GR00221-A-1 9.58 TNFRSF11B
3 Decreased viability GR00221-A-2 9.58 TNFRSF11B
4 Decreased viability GR00221-A-3 9.58 EXT1
5 Decreased viability GR00249-S 9.58 RAD21 TM2D3 TNFRSF11B TRPS1
6 Decreased viability GR00381-A-1 9.58 FAM83A ZHX1
7 Decreased viability GR00386-A-1 9.58 ALX4 PTER RAD21 TRIML2
8 Decreased viability GR00402-S-2 9.58 EXT2 FAM83A RAD21 TNFRSF11B

MGI Mouse Phenotypes related to Trichorhinophalangeal Syndrome, Type Ii:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.7 ALX4 BMP1 CSMD3 EXT1 IKZF1 KCNQ3
2 mortality/aging MP:0010768 9.44 ALX4 BMP1 EIF3H EXT1 EXT2 IKZF1

Drugs & Therapeutics for Trichorhinophalangeal Syndrome, Type Ii

Search Clinical Trials , NIH Clinical Center for Trichorhinophalangeal Syndrome, Type Ii

Cochrane evidence based reviews: langer-giedion syndrome

Genetic Tests for Trichorhinophalangeal Syndrome, Type Ii

Genetic tests related to Trichorhinophalangeal Syndrome, Type Ii:

# Genetic test Affiliating Genes
1 Langer-Giedion Syndrome 29

Anatomical Context for Trichorhinophalangeal Syndrome, Type Ii

The Foundational Model of Anatomy Ontology organs/tissues related to Trichorhinophalangeal Syndrome, Type Ii:

19
Epiphysis

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

40
Skin, Bone, Spinal Cord, Eye, Heart, Brain, Pancreas

Publications for Trichorhinophalangeal Syndrome, Type Ii

Articles related to Trichorhinophalangeal Syndrome, Type Ii:

(show top 50) (show all 130)
# Title Authors PMID Year
1
A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1). 56 61 54
8530105 1995
2
Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications. 61 56
23913778 2013
3
Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency. 61 56
15523607 2004
4
Tibial hemimelia in Langer-Giedion syndrome-possible gene location for tibial hemimelia at 8q. 61 56
10398269 1999
5
Langer-Giedion syndrome associated with submucous cleft palate. 56 61
10190443 1999
6
Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome. 56 61
7711731 1995
7
Tricho-rhino-phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion. 61 56
1481848 1992
8
Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome. 61 56
1836105 1991
9
Haematometra in the Langer-Giedion syndrome. 61 56
1956070 1991
10
Molecular analysis of overlapping chromosomal deletions in patients with Langer-Giedion syndrome. 56 61
1684953 1991
11
Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome. 56 61
2567694 1989
12
Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome. 56 61
2651669 1989
13
Cloning defined regions of the human genome by microdissection of banded chromosomes and enzymatic amplification. 61 56
2784197 1989
14
Langer-Giedion syndrome with del 8 (q24.13-q24.22). 61 56
3502694 1987
15
A final word on the tricho-rhino-phalangeal syndromes. 61 56
3594935 1987
16
Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II. 56 61
2876948 1986
17
Familial syndrome with some features of the Langer-Giedion syndrome, and paracentric inversion of chromosome 8, inv 8 (q11.23----q21.1). 56 61
4017280 1985
18
The critical segment for the Langer-Giedion syndrome: 8q24.11----q24.12. 56 61
3879433 1985
19
The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature. 61 56
6496574 1984
20
The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities? 61 56
6496563 1984
21
Langer-Giedion syndrome, in a child with complex structural aberration of chromosome 8. 61 56
6840761 1983
22
Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)? 56 61
6885052 1983
23
Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Confirmation of the critical segment to 8q23. 56 61
6885060 1983
24
Two cases of the Langer-Giedion syndrome with the same interstitial deletion of the long arm of chromosome 8: 46, XY or XX, del (8) (q23.3q24.13). 56 61
6336324 1983
25
No chromosome deletion found on prometaphase banding in two cases of Langer-Giedion syndrome. 56 61
6983832 1982
26
Langer-Giedion syndrome with interstitial 8q-deletion. 56 61
7081298 1982
27
Langer-Giedion syndrome with and without del 8q. assignment of critical segment to 8q23. 61 56
6984841 1982
28
Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22). 56 61
6254701 1980
29
Chromosome deletion and multiple cartilaginous exostoses. 61 56
6965910 1980
30
Tricho-rhino-phalangeal syndrome type II: Langer-Giedion syndrome in a 2.5 years-old boy. 56 61
7400785 1980
31
The Langer-Giedion syndrome: report of a 22-year old woman. 61 56
315049 1979
32
The Langer-Giedion-syndrome (tricho-rhino-phalangeal syndrome, type II). 61 56
91515 1979
33
Langer-Giedion syndrome: type II tricho-rhino-phalangeal dysplasia. 56 61
301559 1977
34
Trichorhinophalangeal Syndrome 6
28426188 2017
35
Familial tricho-rhino-phalangeal syndrome Type II. 56
6974063 1981
36
Small structural changes of chromosome 8. Two cases with evidence for deletion. 56
903151 1977
37
Multiple exostoses-mental retardation syndrome (Ale-Calo or M.E.M.R. syndrome). 56
300047 1977
38
[Peripheral dysostosis (PD)--a collective concept]. 56
5307918 1969
39
An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions. 54 61
19464398 2009
40
Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletion. 61 54
18478595 2008
41
Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion. 61 54
12457403 2002
42
Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8. 54 61
10647898 1999
43
The EIF3S3 gene encoding the p40 subunit of the translation initiation factor eIF3 has eight exons and maps to the Langer-Giedion syndrome chromosome region on 8q24, but is not the TRPS1 gene. 54 61
10647903 1999
44
BMP-1 sublocalization on human chromosome 8. Molecular anatomy and orthopaedic implications. 54 61
7634576 1995
45
Mapping of the bone morphogenetic protein 1 gene (BMP1) to 8p21: removal of BMP1 from candidacy for the bone disorder in Langer-Giedion syndrome. 61 54
8404039 1993
46
Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4. 61
32296131 2020
47
Mixed Phenotype of Langer-Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion. 61
31976145 2020
48
Case of meningothelial hamartoma with dermal melanocytosis in a patient with trichorhinophalangeal syndrome type II. 61
29679406 2018
49
High-functioning autism in a Sri Lankan youth with Langer-Giedion syndrome. 61
29538090 2018
50
Multiple long bone cysts revealed by MRI in trichorhinophalangeal syndrome type II predisposing to pathological fractures. 61
28493010 2017

Variations for Trichorhinophalangeal Syndrome, Type Ii

ClinVar genetic disease variations for Trichorhinophalangeal Syndrome, Type Ii:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRPS1 NM_014112.5(TRPS1):c.2725dup (p.Cys909fs)duplication Pathogenic 419064 rs1554617582 8:116430655-116430656 8:115418427-115418428
2 TRPS1 NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter)SNV Pathogenic 267746 rs886040971 8:116616566-116616566 8:115604339-115604339
3 EXT1 NM_000127.2(EXT1):c.-642G>ASNV Likely benign 361675 rs534171475 8:119123927-119123927 8:118111688-118111688
4 EXT1 NM_000127.2(EXT1):c.1360G>A (p.Val454Ile)SNV Likely benign 134200 rs201504622 8:118834761-118834761 8:117822522-117822522

Copy number variations for Trichorhinophalangeal Syndrome, Type Ii from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 232524 8 117700000 127300000 Copy number EXT1 Langer-Giedion syndrome
2 232528 8 117700000 127300000 Microdeletion Langer-Giedion syndrome
3 240057 8 45200000 146274826 Copy number EIF3S3 Langer-Giedion syndrome
4 240058 8 45200000 146274826 Copy number TRPS1 Langer-Giedion syndrome

Expression for Trichorhinophalangeal Syndrome, Type Ii

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

Pathways for Trichorhinophalangeal Syndrome, Type Ii

GO Terms for Trichorhinophalangeal Syndrome, Type Ii

Cellular components related to Trichorhinophalangeal Syndrome, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon initial segment GO:0043194 8.62 LRRC7 KCNQ3

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

# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.43 EXT2 EXT1 BMP1
2 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.32 EXT2 EXT1
3 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.16 EXT2 EXT1
4 skeletal system development GO:0001501 9.02 TRPS1 TNFRSF11B EXT1 BMP1 ALX4
5 cellular polysaccharide biosynthetic process GO:0033692 8.96 EXT2 EXT1

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

# Name GO ID Score Top Affiliating Genes
1 glucuronosyltransferase activity GO:0015020 9.26 EXT2 EXT1
2 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 9.16 EXT2 EXT1
3 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 8.96 EXT2 EXT1
4 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 8.62 EXT2 EXT1

Sources for Trichorhinophalangeal Syndrome, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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