TRPS2
MCID: TRC091
MIFTS: 52

Trichorhinophalangeal Syndrome, Type Ii (TRPS2)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases, Smell/Taste diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Trichorhinophalangeal Syndrome, Type Ii

MalaCards integrated aliases for Trichorhinophalangeal Syndrome, Type Ii:

Name: Trichorhinophalangeal Syndrome, Type Ii 57 12
Langer-Giedion Syndrome 57 11 42 58 75 28 53 5 43 71 33
Trichorhinophalangeal Syndrome Type Ii 11 19 42 14
Trichorhinophalangeal Syndrome Type 2 11 19 58 33
Lgs 57 19 42 75
Monosomy 8q24.1 19 58 33
Trps2 57 42 73
Chromosome 8q24.1 Deletion Syndrome 57 42
Giedion-Langer Syndrome 19 42
Deletion 8q24.1 19 58
Trichorhinophalangeal Syndrome with Exostosis 42
Tricho-Rhino-Phalangeal Syndrome Type Ii 42
Trichorhinophalangeal Dysplasia Type Ii 11
Tricho-Rhino-Phalangeal Syndrome 2 73
8q24.1 Microdeletion Syndrome 33
8q24.1 Deletion Syndrome 33
Langer Giedion Syndrome 19
Trps Ii 42
Trps 2 19

Characteristics:


Inheritance:

Trichorhinophalangeal Syndrome, Type Ii: Autosomal dominant 57
Trichorhinophalangeal Syndrome Type 2: Autosomal dominant 58

Prevelance:

Trichorhinophalangeal Syndrome Type 2: <1/1000000 (Worldwide) 58

Age Of Onset:

Trichorhinophalangeal Syndrome Type 2: Childhood,Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
male predominance
majority of cases sporadic


Classifications:

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


Summaries for Trichorhinophalangeal Syndrome, Type Ii

MedlinePlus Genetics: 42 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 exostoses, multiple, type i 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), and among its related pathways/superpathways are Mitotic Telophase/Cytokinesis and Proteoglycan biosynthesis. Affiliated tissues include epiphysis, skin and bone, and related phenotypes are delayed skeletal maturation and short stature

GARD: 19 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®: 57 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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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 intellectual disability.

Disease Ontology: 11 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.

Orphanet: 58 A rare multiple congenital anomalies syndrome characterized by the association of intellectual disability and numerous other anomalies including redundant skin, multiple cartilaginous exostoses, characteristic facies and cone-shaped phalangeal epiphyses.

Wikipedia 75 Langer-giedion syndrome: Langer-Giedion syndrome (LGS) is a very uncommon autosomal dominant genetic disorder caused by a... more...

Lgs: Leaky gut syndrome is a hypothetical, medically unrecognized... 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 97)
# Related Disease Score Top Affiliating Genes
1 exostoses, multiple, type i 32.5 EXT2 EXT1
2 trichorhinophalangeal syndrome 31.4 TRPS1 EXT1
3 hereditary multiple exostoses 31.1 TRPS1 EXT2 EXT1
4 trichorhinophalangeal syndrome, type i 31.0 TRPS1 IKZF1 EXT1
5 cornelia de lange syndrome 30.9 TRPS1 RAD21 NIPBL MED30
6 hereditary multiple osteochondromas 30.8 EXT2 EXT1
7 osteochondroma 30.6 EXT2 EXT1
8 cornelia de lange syndrome 4 with or without midline brain defects 30.5 TRPS1 RAD21 NIPBL MED30 MED22 MED11
9 metachondromatosis 30.5 EXT2 EXT1
10 familial adult myoclonic epilepsy 30.5 ZNF713 SAMD12 CSMD3
11 hypertrichosis 30.4 TRPS1 NIPBL EXT1
12 lennox-gastaut syndrome 11.4
13 chromosome 8q deletion 10.5
14 cornelia de lange syndrome 1 10.5
15 tibial hemimelia 10.4
16 exostosis 10.4
17 trichorhinophalangeal syndrome, type iii 10.3 TRPS1 EXT1
18 ankylosing spondylitis 3 10.3 EXT2 EXT1
19 nephrotic syndrome, type 1 10.3
20 ceroid lipofuscinosis, neuronal, 5 10.3
21 hypotrichosis 7 10.3
22 respiratory failure 10.3
23 nephrotic syndrome 10.3
24 familial nephrotic syndrome 10.3
25 hypotrichosis 10.3
26 aminoaciduria 10.3
27 periosteal osteogenic sarcoma 10.3 EXT2 EXT1
28 periosteal chondrosarcoma 10.3 EXT2 EXT1
29 juxtacortical chondroma 10.3 EXT2 EXT1
30 charcot-marie-tooth disease, x-linked recessive, 3 10.3 EXT2 EXT1
31 charcot-marie-tooth disease, x-linked recessive, 2 10.3 EXT2 EXT1
32 cleft palate, isolated 10.3
33 down syndrome 10.3
34 microcephaly 10.3
35 growth hormone deficiency 10.3
36 hemimelia 10.3
37 partial deletion of the long arm of chromosome 8 10.3
38 hypertrichosis universalis congenita, ambras type 10.2 TRPS1 ALX4
39 cornelia de lange syndrome 3 with or without midline brain defects 10.2 RAD21 NIPBL
40 multiple enchondromatosis, maffucci type 10.2 EXT2 EXT1
41 chronic atrial and intestinal dysrhythmia 10.2 RAD21 NIPBL
42 familial isolated trichomegaly 10.1 RAD21 NIPBL
43 osteochondrodysplasia 10.1 TRPS1 TNFRSF11B EXT2 EXT1 BMP1
44 aniridia 1 10.1
45 total anomalous pulmonary venous return 1 10.1
46 gastroesophageal reflux 10.1
47 carpal tunnel syndrome 10.1
48 beckwith-wiedemann syndrome 10.1
49 legg-calve-perthes disease 10.1
50 craniofacial microsomia 10.1

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 30 (show top 50) (show all 107)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002750
2 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
3 low-set, posteriorly rotated ears 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000368
4 thin upper lip vermilion 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000219
5 long philtrum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000343
6 protruding ear 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000411
7 deep philtrum 58 30 Very rare (1%) Very frequent (99-80%)
HP:0002002
8 sparse scalp hair 58 30 Very rare (1%) Very frequent (99-80%)
HP:0002209
9 bulbous nose 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000414
10 bone pain 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002653
11 multiple long-bone exostoses 58 30 Very rare (1%) Very frequent (99-80%)
HP:0005039
12 cone-shaped epiphyses of the phalanges of the hand 58 30 Very rare (1%) Very frequent (99-80%)
HP:0010230
13 intellectual disability 58 30 Very rare (1%) Frequent (79-30%)
HP:0001249
14 thick eyebrow 58 30 Very rare (1%) Frequent (79-30%)
HP:0000574
15 aplasia/hypoplasia of the mandible 58 30 Frequent (33%) Frequent (79-30%)
HP:0009118
16 joint hyperflexibility 58 30 Frequent (33%) Frequent (79-30%)
HP:0005692
17 joint dislocation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001373
18 redundant skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0001582
19 hypotonia 58 30 Very rare (1%) Occasional (29-5%)
HP:0001252
20 hip dysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001385
21 wide nasal bridge 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000431
22 microcephaly 58 30 Very rare (1%) Occasional (29-5%)
HP:0000252
23 genu valgum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002857
24 thick nasal alae 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009928
25 conductive hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000405
26 brachydactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001156
27 bilateral single transverse palmar creases 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007598
28 vesicoureteral reflux 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000076
29 talipes 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001883
30 ventriculomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002119
31 recurrent urinary tract infections 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000010
32 abnormal palate morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000174
33 avascular necrosis of the capital femoral epiphysis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005743
34 abnormality of cardiovascular system morphology 30 Occasional (7.5%) HP:0030680
35 supernumerary tooth 30 Occasional (7.5%) HP:0011069
36 growth delay 58 30 Very rare (1%) Occasional (29-5%)
HP:0001510
37 scoliosis 30 Very rare (1%) HP:0002650
38 ptosis 30 Very rare (1%) HP:0000508
39 hyperhidrosis 30 Very rare (1%) HP:0000975
40 dysarthria 30 Very rare (1%) HP:0001260
41 osteopenia 30 Very rare (1%) HP:0000938
42 global developmental delay 30 Very rare (1%) HP:0001263
43 inguinal hernia 30 Very rare (1%) HP:0000023
44 mandibular prognathia 30 Very rare (1%) HP:0000303
45 carious teeth 30 Very rare (1%) HP:0000670
46 gastroesophageal reflux 30 Very rare (1%) HP:0002020
47 vomiting 30 Very rare (1%) HP:0002013
48 recurrent upper respiratory tract infections 30 Very rare (1%) HP:0002788
49 dry skin 30 Very rare (1%) HP:0000958
50 hypohidrosis 30 Very rare (1%) HP:0000966

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Spine:
scoliosis

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

Growth Height:
postnatal onset of mild growth retardation

Skin Nails Hair Nails:
brittle nails

Neurologic Central Nervous System:
hypotonia
mental retardation
delayed speech development

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

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 (Updated 08-Dec-2022)

Symptoms:

11
  • sparse scalp hair
  • thin upper lip
  • rounded nose

MGI Mouse Phenotypes related to Trichorhinophalangeal Syndrome, Type Ii:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.65 ALX4 BMP1 CSMD3 EIF3H EXT1 EXT2
2 limbs/digits/tail MP:0005371 9.63 ALX4 BMP1 EXT1 MED11 NIPBL TNFRSF11B
3 mortality/aging MP:0010768 9.47 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 28

Anatomical Context for Trichorhinophalangeal Syndrome, Type Ii

Organs/tissues related to Trichorhinophalangeal Syndrome, Type Ii:

FMA: Epiphysis
MalaCards : Skin, Bone, Spinal Cord, Heart, Eye, Pancreas, Brain

Publications for Trichorhinophalangeal Syndrome, Type Ii

Articles related to Trichorhinophalangeal Syndrome, Type Ii:

(show top 50) (show all 155)
# 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). 53 62 57
8530105 1995
2
Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications. 62 57
23913778 2013
3
Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency. 62 57
15523607 2004
4
Tibial hemimelia in Langer-Giedion syndrome-possible gene location for tibial hemimelia at 8q. 62 57
10398269 1999
5
Langer-Giedion syndrome associated with submucous cleft palate. 62 57
10190443 1999
6
Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome. 62 57
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. 62 57
1481848 1992
8
Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome. 62 57
1836105 1991
9
Molecular analysis of overlapping chromosomal deletions in patients with Langer-Giedion syndrome. 62 57
1684953 1991
10
Haematometra in the Langer-Giedion syndrome. 62 57
1956070 1991
11
Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome. 62 57
2567694 1989
12
Cloning defined regions of the human genome by microdissection of banded chromosomes and enzymatic amplification. 62 57
2784197 1989
13
Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome. 62 57
2651669 1989
14
Langer-Giedion syndrome with del 8 (q24.13-q24.22). 62 57
3502694 1987
15
A final word on the tricho-rhino-phalangeal syndromes. 62 57
3594935 1987
16
Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II. 62 57
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). 62 57
4017280 1985
18
The critical segment for the Langer-Giedion syndrome: 8q24.11----q24.12. 62 57
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. 62 57
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? 62 57
6496563 1984
21
Langer-Giedion syndrome, in a child with complex structural aberration of chromosome 8. 62 57
6840761 1983
22
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). 62 57
6336324 1983
23
Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Confirmation of the critical segment to 8q23. 62 57
6885060 1983
24
Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)? 62 57
6885052 1983
25
No chromosome deletion found on prometaphase banding in two cases of Langer-Giedion syndrome. 62 57
6983832 1982
26
Langer-Giedion syndrome with interstitial 8q-deletion. 62 57
7081298 1982
27
Langer-Giedion syndrome with and without del 8q. assignment of critical segment to 8q23. 62 57
6984841 1982
28
Familial tricho-rhino-phalangeal syndrome Type II. 62 57
6974063 1981
29
Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22). 62 57
6254701 1980
30
Chromosome deletion and multiple cartilaginous exostoses. 62 57
6965910 1980
31
Tricho-rhino-phalangeal syndrome type II: Langer-Giedion syndrome in a 2.5 years-old boy. 62 57
7400785 1980
32
The Langer-Giedion syndrome: report of a 22-year old woman. 62 57
315049 1979
33
The Langer-Giedion-syndrome (tricho-rhino-phalangeal syndrome, type II). 62 57
91515 1979
34
Langer-Giedion syndrome: type II tricho-rhino-phalangeal dysplasia. 62 57
301559 1977
35
Small structural changes of chromosome 8. Two cases with evidence for deletion. 57
903151 1977
36
Multiple exostoses-mental retardation syndrome (Ale-Calo or M.E.M.R. syndrome). 57
300047 1977
37
[Peripheral dysostosis (PD)--a collective concept]. 57
5307918 1969
38
An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions. 53 62
19464398 2009
39
Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletion. 53 62
18478595 2008
40
Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion. 53 62
12457403 2002
41
Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8. 53 62
10647898 1999
42
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. 53 62
10647903 1999
43
BMP-1 sublocalization on human chromosome 8. Molecular anatomy and orthopaedic implications. 53 62
7634576 1995
44
Mapping of the bone morphogenetic protein 1 gene (BMP1) to 8p21: removal of BMP1 from candidacy for the bone disorder in Langer-Giedion syndrome. 53 62
8404039 1993
45
Trichorhinophalangeal syndrome type II associated with aplasia cutis congenita in a neonate. 62
35181938 2022
46
Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome. 62
35290978 2022
47
Mediator complex proximal Tail subunit MED30 is critical for Mediator core stability and cardiomyocyte transcriptional network. 62
34506481 2021
48
BACs-on-Beads Assay for the Prenatal Diagnosis of Microdeletion and Microduplication Syndromes. 62
33826125 2021
49
Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4. 62
32296131 2020
50
Mixed Phenotype of Langer-Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion. 62
31976145 2020

Variations for Trichorhinophalangeal Syndrome, Type Ii

ClinVar genetic disease variations for Trichorhinophalangeal Syndrome, Type Ii:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRPS1 NM_014112.5(TRPS1):c.2725dup (p.Cys909fs) DUP Pathogenic
419064 rs1554617582 GRCh37: 8:116430655-116430656
GRCh38: 8:115418427-115418428
2 STMN2 GRCh37/hg19 8q21.12-21.13(chr8:79982581-80674788) CN LOSS Pathogenic
1703571 GRCh37: 8:79982581-80674788
GRCh38:
3 TRPS1 NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter) SNV Pathogenic
267746 rs886040971 GRCh37: 8:116616566-116616566
GRCh38: 8:115604339-115604339
4 EXT1 NM_000127.3(EXT1):c.1360G>A (p.Val454Ile) SNV Likely Benign
134200 rs201504622 GRCh37: 8:118834761-118834761
GRCh38: 8:117822522-117822522
5 EXT1 NM_000127.3(EXT1):c.-642G>A SNV Likely Benign
361675 rs534171475 GRCh37: 8:119123927-119123927
GRCh38: 8:118111688-118111688

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

6
# 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 EIF3H 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.32 RAD21 NIPBL
2 9.88 EXT2 EXT1

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 mediator complex GO:0016592 9.43 MED30 MED22 MED11
2 core mediator complex GO:0070847 9.1 MED30 MED22 MED11

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II preinitiation complex assembly GO:0051123 9.95 MED30 MED22 MED11
2 positive regulation of transcription initiation by RNA polymerase II GO:0060261 9.91 MED30 MED22 MED11
3 heparin biosynthetic process GO:0030210 9.81 EXT2 EXT1
4 multicellular organismal water homeostasis GO:0050891 9.8 EXT2 EXT1
5 positive regulation of transcription elongation by RNA polymerase II GO:0032968 9.8 MED30 MED22 MED11
6 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.76 EXT2 EXT1
7 establishment of mitotic sister chromatid cohesion GO:0034087 9.71 NIPBL RAD21
8 DNA-templated transcription elongation GO:0006354 9.7 MED30 MED22 MED11
9 replication-born double-strand break repair via sister chromatid exchange GO:1990414 9.67 NIPBL RAD21
10 fluid transport GO:0042044 9.46 EXT2 EXT1
11 endochondral bone morphogenesis GO:0060350 9.43 EXT2 EXT1
12 skeletal system development GO:0001501 9.32 TRPS1 TNFRSF11B EXT1 BMP1 ALX4
13 cellular polysaccharide biosynthetic process GO:0033692 9.26 EXT2 EXT1

Molecular functions related to Trichorhinophalangeal Syndrome, Type Ii 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 9.46 EXT2 EXT1
2 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 9.26 EXT2 EXT1
3 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 8.92 EXT2 EXT1

Sources for Trichorhinophalangeal Syndrome, Type Ii

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....