MCID: TRC091
MIFTS: 52

Trichorhinophalangeal Syndrome, Type Ii

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

Aliases & Classifications for Trichorhinophalangeal Syndrome, Type Ii

MalaCards integrated aliases for Trichorhinophalangeal Syndrome, Type Ii:

Name: Trichorhinophalangeal Syndrome, Type Ii 57 13
Langer-Giedion Syndrome 57 12 25 59 29 55 6 44 73
Trichorhinophalangeal Syndrome Type Ii 12 53 25 15
Lgs 57 76 53 25
Trps2 57 25 75
Trichorhinophalangeal Syndrome Type 2 53 59
Chromosome 8q24.1 Deletion Syndrome 57 25
Giedion-Langer Syndrome 53 25
Deletion 8q24.1 53 59
Monosomy 8q24.1 53 59
Trichorhinophalangeal Syndrome with Exostosis 25
Trichorhinophalangeal Syndrome, Type Ii ) 40
Tricho-Rhino-Phalangeal Syndrome Type Ii 25
Trichorhinophalangeal Dysplasia Type Ii 12
Tricho-Rhino-Phalangeal Syndrome 2 75
Langer-Giedion Syndrome; Lgs 57
Langer Giedion Syndrome 53
Trps Ii 25
Trps 2 53

Characteristics:

Orphanet epidemiological data:

59
trichorhinophalangeal syndrome type 2
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
male predominance
majority of cases sporadic


HPO:

32
trichorhinophalangeal syndrome, type ii:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Trichorhinophalangeal Syndrome, Type Ii

NIH Rare Diseases : 53 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.

MalaCards based summary : Trichorhinophalangeal Syndrome, Type Ii, also known as langer-giedion syndrome, is related to trichorhinophalangeal syndrome and lennox-gastaut 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 is heparan sulfate biosynthesis. The drugs Aldesleukin and Adjuvants, Immunologic have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related phenotypes are joint dislocation and genu valgum

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.

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).

UniProtKB/Swiss-Prot : 75 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 : 76 Leaky gut syndrome is a hypothetical, medically unrecognized... 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:

57
Skeletal Spine:
scoliosis

Respiratory Airways:
recurrent upper respiratory tract infections

Skin Nails Hair Hair:
sparse scalp hair

Head And Neck Eyes:
exotropia
deep-set eyes

Genitourinary Ureters:
hydrometrocolpos
ureteral reflux

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

Skin Nails Hair Nails:
brittle nails

Head And Neck Head:
microcephaly

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

Skeletal Hands:
syndactyly
cone-shaped epiphyses of phalanges

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

Neurologic Central Nervous System:
hypotonia
mental retardation
delayed speech development

Growth Height:
postnatal onset of mild growth retardation

Skin Nails Hair Skin:
redundant skin in infancy
nevi

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

Human phenotypes related to Trichorhinophalangeal Syndrome, Type Ii:

59 32 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0001373
2 genu valgum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002857
3 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
4 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
5 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
6 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
7 wide nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000431
8 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
9 thick eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0000574
10 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
11 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
12 thick nasal alae 59 32 occasional (7.5%) Occasional (29-5%) HP:0009928
13 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
14 aplasia/hypoplasia of the mandible 59 32 frequent (33%) Frequent (79-30%) HP:0009118
15 protruding ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000411
16 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
17 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
18 increased number of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0011069
19 conductive hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000405
20 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
21 bilateral single transverse palmar creases 59 32 occasional (7.5%) Occasional (29-5%) HP:0007598
22 vesicoureteral reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0000076
23 bulbous nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000414
24 thin upper lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000219
25 deep philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002002
26 sparse scalp hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002209
27 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
28 recurrent urinary tract infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0000010
29 redundant skin 59 32 frequent (33%) Frequent (79-30%) HP:0001582
30 talipes 59 32 occasional (7.5%) Occasional (29-5%) HP:0001883
31 multiple long-bone exostoses 59 32 hallmark (90%) Very frequent (99-80%) HP:0005039
32 avascular necrosis of the capital femoral epiphysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0005743
33 cone-shaped epiphyses of the phalanges of the hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0010230
34 scoliosis 32 HP:0002650
35 hearing impairment 32 HP:0000365
36 macrotia 32 HP:0000400
37 abnormality of the dentition 59 Occasional (29-5%)
38 delayed speech and language development 32 HP:0000750
39 exostoses 59 Very frequent (99-80%)
40 malformation of the heart and great vessels 59 Occasional (29-5%)
41 recurrent upper respiratory tract infections 32 HP:0002788
42 growth delay 59 Occasional (29-5%)
43 nevus 32 HP:0003764
44 scapular winging 32 HP:0003691
45 deeply set eye 32 HP:0000490
46 joint hypermobility 32 HP:0001382
47 abnormality of the palate 59 Occasional (29-5%)
48 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
49 generalized hypotonia 32 HP:0001290
50 fragile nails 32 HP:0001808

MGI Mouse Phenotypes related to Trichorhinophalangeal Syndrome, Type Ii:

46
# 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)
# 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 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 Interleukin-2 Phase 2
9 Vaccines Phase 2,Phase 1
10
Benzocaine Approved, Investigational Not Applicable 1994-09-7, 94-09-7 2337
11
Menthol Approved Not Applicable 2216-51-5 16666
12 tannic acid Approved, Nutraceutical Not Applicable
13 Hemostatics Not Applicable

Interventional clinical trials:


# 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 Not Applicable

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:

# Genetic test Affiliating Genes
1 Langer-Giedion Syndrome 29

Anatomical Context for Trichorhinophalangeal Syndrome, Type Ii

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

41
Skin, Bone, Eye, Heart, Pancreas

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

19
Epiphysis

Publications for Trichorhinophalangeal Syndrome, Type Ii

Articles related to Trichorhinophalangeal Syndrome, Type Ii:

(show top 50) (show all 71)
# Title Authors Year
1
Case of meningothelial hamartoma with dermal melanocytosis in a patient with trichorhinophalangeal syndrome type II. ( 29679406 )
2018
2
Multiple long bone cysts revealed by MRI in trichorhinophalangeal syndrome type II predisposing to pathological fractures. ( 28493010 )
2017
3
Trichorhinophalangeal syndrome type II presenting with short stature in a child. ( 27869420 )
2016
4
An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4. ( 26269715 )
2015
5
Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion. ( 26673557 )
2015
6
Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23.3-q24.11 and 8q24.13 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and haploinsufficiency of TRPS1, RAD21 and EXT1. ( 26522117 )
2015
7
Trichorhinophalangeal syndrome type II due to a novel 8q23.3-q24.12 deletion associated with imperforate hymen and vaginal stenosis. ( 24909397 )
2014
8
Langer-Giedion syndrome: the evolving imaging features in hands and beyond. ( 24072254 )
2014
9
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review. ( 24357330 )
2013
10
An interstitial, apparently-balanced chromosomal insertion in the etiology of Langer-Giedion syndrome in an Asian family. ( 23832104 )
2013
11
Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications. ( 23913778 )
2013
12
Unanticipated subglottic stenosis complicating airway management of a child with Langer-Giedion syndrome. ( 24004157 )
2013
13
An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy. ( 23933416 )
2013
14
Third case of 8q23.3-q24.13 deletion in a patient with Langer-Giedion syndrome phenotype without TRPS1 gene deletion. ( 22315192 )
2012
15
Tibial hemimelia in Langer-Giedion syndrome with 8q23.1-q24.12 interstitial deletion. ( 21948702 )
2011
16
Severe muscle weakness to necessitate rehabilitation in a case of trichorhinophalangeal syndrome type II. ( 18759793 )
2009
17
Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13). ( 19012352 )
2008
18
Trichorhinophalangeal syndrome type II without the chromosome 8 deletion that resembled metachondromatosis. ( 17688470 )
2007
19
Langer-Giedion Syndrome. ( 16528117 )
2006
20
Lower eyelid entropion in Langer-Giedion syndrome. ( 16418671 )
2006
21
Langer-giedion syndrome with renal cyst. ( 15758548 )
2005
22
Tetraparesis due to exostotic osteochondroma at upper cervical cord in a patient with multiple exostoses-mental retardation syndrome (Langer-Giedion syndrome). ( 15583707 )
2005
23
Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency. ( 15523607 )
2004
24
Trichorhinophalangeal syndrome, type II (Langer-Giedion syndrome). ( 12165224 )
2001
25
An integrated physical map of 8q22-q24: use in positional cloning and deletion analysis of Langer-Giedion syndrome. ( 11161813 )
2001
26
Trichorhinophalangeal syndrome type II: case report. ( 10944842 )
2000
27
Tibial hemimelia in Langer-Giedion syndrome-possible gene location for tibial hemimelia at 8q. ( 10398269 )
1999
28
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. ( 10647903 )
1999
29
Langer-Giedion syndrome associated with submucous cleft palate. ( 10190443 )
1999
30
Langer-Giedion syndrome associated with submucous cleft palate. ( 11149806 )
1999
31
Langer-Giedion syndrome. A patient without mental retardation and a large 8q23.2-q24.22 deletion. ( 10783592 )
1999
32
Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8. ( 10647898 )
1999
33
Langer-Giedion syndrome associated with scimitar syndrome. ( 10201043 )
1999
34
Lunatomalacia associated with congenital shortening of the ulna in Langer-Giedion syndrome: a case report. ( 9195447 )
1997
35
Assignment of fragile site 8E (FRA8E) to human chromosome band 8q24.11 adjacent to the hereditary multiple exostoses 1 gene and two overlapping Langer-Giedion syndrome deletion endpoints. ( 9345908 )
1997
36
Conductive hearing loss in the tricho-rhino-phalangeal syndrome (TRP II) or in the Langer-Giedion syndrome. ( 9332674 )
1997
37
Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome. ( 7711731 )
1995
38
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). ( 8530105 )
1995
39
Mapping of the bone morphogenetic protein 1 gene (BMP1) to 8p21: removal of BMP1 from candidacy for the bone disorder in Langer-Giedion syndrome. ( 8404039 )
1993
40
The orthopaedic manifestations of the Langer-Giedion syndrome. ( 1565510 )
1992
41
Molecular analysis of overlapping chromosomal deletions in patients with Langer-Giedion syndrome. ( 1684953 )
1991
42
Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome. ( 1836105 )
1991
43
Haematometra in the Langer-Giedion syndrome. ( 1956070 )
1991
44
Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome. ( 2651669 )
1989
45
Intellectual competence in a girl with Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) ( 2596534 )
1989
46
Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome. ( 2567694 )
1989
47
Langer Giedion syndrome. ( 3265410 )
1988
48
Langer-Giedion syndrome with del 8 (q24.13-q24.22). ( 3502694 )
1987
49
Interstitial deletion of the long arm of chromosome 8 without Langer-Giedion syndrome. ( 3784158 )
1986
50
A complex rearrangement, including a deleted 8q, in a case of Langer-Giedion syndrome. ( 3872186 )
1985

Variations for Trichorhinophalangeal Syndrome, Type Ii

ClinVar genetic disease variations for Trichorhinophalangeal Syndrome, Type Ii:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EXT1 NM_000127.2(EXT1): c.-642G> A single nucleotide variant Likely benign rs534171475 GRCh37 Chromosome 8, 119123927: 119123927
2 EXT1 NM_000127.2(EXT1): c.-642G> A single nucleotide variant Likely benign rs534171475 GRCh38 Chromosome 8, 118111688: 118111688

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

7
# 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:

# 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:

# 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:

# 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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