MCID: TRC091
MIFTS: 48

Trichorhinophalangeal Syndrome, Type Ii

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

Aliases & Classifications for Trichorhinophalangeal Syndrome, Type Ii

MalaCards integrated aliases for Trichorhinophalangeal Syndrome, Type Ii:

Name: Trichorhinophalangeal Syndrome, Type Ii 54 13
Langer-Giedion Syndrome 12 24 25 56 29 52 42 69
Trichorhinophalangeal Syndrome Type Ii 12 50 24 25 14
Trps2 24 25 71
Lgs 50 24 25
Trichorhinophalangeal Syndrome Type 2 50 56
Chromosome 8q24.1 Deletion Syndrome 24 25
Giedion-Langer Syndrome 50 25
Deletion 8q24.1 50 56
Monosomy 8q24.1 50 56
Trichorhinophalangeal Syndrome with Exostosis 25
Tricho-Rhino-Phalangeal Syndrome Type Ii 25
Trichorhinophalangeal Dysplasia Type Ii 12
Tricho-Rhino-Phalangeal Syndrome 2 71
Langer Giedion Syndrome 50
Trps Ii 25
Trps 2 50

Characteristics:

Orphanet epidemiological data:

56
langer-giedion syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
majority of cases sporadic
male predominance


HPO:

32
trichorhinophalangeal syndrome, type ii:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Trichorhinophalangeal Syndrome, Type Ii

NIH Rare Diseases : 50 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. last updated: 5/17/2015

MalaCards based summary : Trichorhinophalangeal Syndrome, Type Ii, also known as langer-giedion syndrome, is related to lennox-gastaut syndrome and exostoses, multiple, type 1, and has symptoms including short stature, sparse scalp hair and bulbous nose. An important gene associated with Trichorhinophalangeal Syndrome, Type Ii is EXT1 (Exostosin Glycosyltransferase 1), and among its related pathways/superpathways is heparan sulfate biosynthesis. The drugs Aldesleukin and Interleukin-2 have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related phenotypes are craniofacial and skeleton

UniProtKB/Swiss-Prot : 71 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.

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).

Disease Ontology : 12 An autosomal dominant disease 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.

Wikipedia : 72 Langer–Giedion syndrome (LGS) is a very uncommon autosomal dominant genetic disorder caused by a... more...

Description from OMIM: 150230

Related Diseases for Trichorhinophalangeal Syndrome, Type Ii

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

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Spine:
scoliosis

Skin Nails & Hair- Hair:
sparse scalp hair

Head And Neck- Head:
microcephaly

Skeletal- Hands:
syndactyly
cone-shaped epiphyses of phalanges

Skin Nails & Hair- Nails:
brittle nails

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

Respiratory- Airways:
recurrent upper respiratory tract infections

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

Neurologic- Central Nervous System:
hypotonia
mental retardation
delayed speech development

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

Head And Neck- Ears:
hearing loss
large protruding ears

Head And Neck- Eyes:
exotropia
deep set eyes

Skin Nails & Hair- Skin:
nevi
redundant skin in infancy

Growth- Height:
postnatal onset of mild growth retardation

Genitourinary- Ureters:
hydrometrocolpos
ureteral reflux

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


Clinical features from OMIM:

150230

Human phenotypes related to Trichorhinophalangeal Syndrome, Type Ii:

56 32 (show top 50) (show all 57)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 sparse scalp hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002209
3 bulbous nose 56 32 hallmark (90%) Very frequent (99-80%) HP:0000414
4 ventriculomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002119
5 recurrent urinary tract infections 56 32 occasional (7.5%) Occasional (29-5%) HP:0000010
6 microcephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000252
7 genu valgum 56 32 occasional (7.5%) Occasional (29-5%) HP:0002857
8 intellectual disability 56 32 frequent (33%) Frequent (79-30%) HP:0001249
9 long philtrum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000343
10 wide nasal bridge 56 32 occasional (7.5%) Occasional (29-5%) HP:0000431
11 deep philtrum 56 32 hallmark (90%) Very frequent (99-80%) HP:0002002
12 vesicoureteral reflux 56 32 occasional (7.5%) Occasional (29-5%) HP:0000076
13 bone pain 56 32 hallmark (90%) Very frequent (99-80%) HP:0002653
14 low-set, posteriorly rotated ears 56 32 hallmark (90%) Very frequent (99-80%) HP:0000368
15 thick nasal alae 56 32 occasional (7.5%) Occasional (29-5%) HP:0009928
16 joint hyperflexibility 56 32 frequent (33%) Frequent (79-30%) HP:0005692
17 muscular hypotonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001252
18 delayed skeletal maturation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002750
19 redundant skin 56 32 frequent (33%) Frequent (79-30%) HP:0001582
20 talipes 56 32 occasional (7.5%) Occasional (29-5%) HP:0001883
21 hip dysplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001385
22 joint dislocation 56 32 frequent (33%) Frequent (79-30%) HP:0001373
23 thin upper lip vermilion 56 32 hallmark (90%) Very frequent (99-80%) HP:0000219
24 bilateral single transverse palmar creases 56 32 occasional (7.5%) Occasional (29-5%) HP:0007598
25 thick eyebrow 56 32 frequent (33%) Frequent (79-30%) HP:0000574
26 aplasia/hypoplasia of the mandible 56 32 frequent (33%) Frequent (79-30%) HP:0009118
27 protruding ear 56 32 hallmark (90%) Very frequent (99-80%) HP:0000411
28 increased number of teeth 56 32 occasional (7.5%) Occasional (29-5%) HP:0011069
29 conductive hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000405
30 abnormality of the palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000174
31 multiple long-bone exostoses 56 32 hallmark (90%) Very frequent (99-80%) HP:0005039
32 avascular necrosis of the capital femoral epiphysis 56 32 occasional (7.5%) Occasional (29-5%) HP:0005743
33 cone-shaped epiphyses of the phalanges of the hand 56 32 hallmark (90%) Very frequent (99-80%) HP:0010230
34 scoliosis 32 HP:0002650
35 brachydactyly 32 occasional (7.5%) HP:0001156
36 joint hypermobility 32 HP:0001382
37 scapular winging 32 HP:0003691
38 syndactyly 32 HP:0001159
39 fragile nails 32 HP:0001808
40 exotropia 32 HP:0000577
41 hearing impairment 32 HP:0000365
42 rib exostoses 32 HP:0000896
43 scapular exostoses 32 HP:0000918
44 recurrent upper respiratory tract infections 32 HP:0002788
45 hydrometrocolpos 32 HP:0030010
46 redundant skin in infancy 32 HP:0007595
47 delayed speech and language development 32 HP:0000750
48 growth delay 56 Occasional (29-5%)
49 macrotia 32 HP:0000400
50 exostoses 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Trichorhinophalangeal Syndrome, Type Ii:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.26 BMP1 EXT1 TNFRSF11B TRPS1
2 skeleton MP:0005390 9.02 BMP1 EIF3H EXT1 TNFRSF11B TRPS1

Drugs & Therapeutics for Trichorhinophalangeal Syndrome, Type Ii

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

(show all 13)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aldesleukin Approved Phase 2 85898-30-2, 110942-02-4
2 Interleukin-2 Phase 2
3 Adjuvants, Immunologic Phase 2
4 Freund's Adjuvant Phase 2
5 Vaccines Phase 2,Phase 1
6 Anti-HIV Agents Phase 2
7 Anti-Infective Agents Phase 2
8 Anti-Retroviral Agents Phase 2
9 Antiviral Agents Phase 2
10
Benzocaine Approved 1994-09-7, 94-09-7 2337
11
Menthol Approved 2216-51-5 16666
12 tannic acid Approved, Nutraceutical
13 Hemostatics

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Vaccine Therapy With or Without Interleukin-2 in Treating Patients With Metastatic Melanoma That Has Not Responded to Previous Treatment Completed NCT00022438 Phase 2
2 Immune Responses to Autologous Langerhans-type Dendritic Cells Electroporated With mRNA Encoding a Tumor-associated Antigen in Patients With Malignancy: A Single-arm Phase I Trial in Melanoma Active, not recruiting NCT01456104 Phase 1
3 Referred Pain Patterns Infraspinatus Muscle Completed NCT02817269

Search 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:

id Genetic test Affiliating Genes
1 Langer-Giedion Syndrome 29
2 Trichorhinophalangeal Syndrome Type Ii 24 TRPS1

Anatomical Context for Trichorhinophalangeal Syndrome, Type Ii

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

39
Skin, Bone, Eye, Heart, Pancreas

Publications for Trichorhinophalangeal Syndrome, Type Ii

Articles related to Trichorhinophalangeal Syndrome, Type Ii:

id Title Authors Year
1
Multiple long bone cysts revealed by MRI in trichorhinophalangeal syndrome type II predisposing to pathological fractures. ( 28493010 )
2017
2
Trichorhinophalangeal syndrome type II presenting with short stature in a child. ( 27869420 )
2016
3
Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion. ( 26673557 )
2015
4
Trichorhinophalangeal syndrome type II due to a novel 8q23.3-q24.12 deletion associated with imperforate hymen and vaginal stenosis. ( 24909397 )
2014
5
Severe muscle weakness to necessitate rehabilitation in a case of trichorhinophalangeal syndrome type II. ( 18759793 )
2009
6
Trichorhinophalangeal syndrome type II without the chromosome 8 deletion that resembled metachondromatosis. ( 17688470 )
2007
7
Trichorhinophalangeal syndrome, type II (Langer-Giedion syndrome). ( 12165224 )
2001
8
Trichorhinophalangeal syndrome type II: case report. ( 10944842 )
2000

Variations for Trichorhinophalangeal Syndrome, Type Ii

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

7
id CNVD ID Chromosom 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

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.46 EXT1 EXTL1

GO Terms for Trichorhinophalangeal Syndrome, Type Ii

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

id Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.02 BMP1 EXT1 EXTL1 TNFRSF11B TRPS1
2 ossification GO:0001503 8.96 BMP1 EXT1

Molecular functions related to Trichorhinophalangeal Syndrome, Type Ii 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 Ii

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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