LGS
MCID: TRC085
MIFTS: 47

Trichorhinophalangeal Syndrome Type Ii (LGS) malady

Neuronal diseases, Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Trichorhinophalangeal Syndrome Type Ii

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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: 5/10/2011

MalaCards: Trichorhinophalangeal Syndrome Type Ii, also known as langer-giedion syndrome, is related to hereditary multiple exostoses and cleft palate, and has symptoms including dilated cerebral ventricles without hydrocephaly, talipes-varus/metatarsal varus and genu valgum. An important gene associated with Trichorhinophalangeal Syndrome Type Ii is TRPS1 (trichorhinophalangeal syndrome I). Affiliated tissues include epiphysis, bone and skin, and related mouse phenotypes are skeleton and craniofacial.

Disease Ontology:8 An exostosis 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:21 Langer-Giedion syndrome is a condition that causes bone abnormalities and distinctive facial features. People with this condition have multiple noncancerous (benign) bone tumors called exostoses. Multiple exostoses may result in pain, limited range of joint movement, and pressure on nerves, blood vessels, the spinal cord, and tissues surrounding the exostoses. Affected individuals also have short stature and cone-shaped ends of the long bones (epiphyses). The characteristic appearance of individuals with Langer-Giedion syndrome includes sparse scalp hair, a rounded nose, a long flat area between the nose and the upper lip (philtrum), and a thin upper lip. Some people with this condition have loose skin in childhood, which typically resolves with age. Affected individuals may have some intellectual disability.

Wikipedia:63 Langer-Giedion Syndrome (LGS), also called trichorhinophalangeal syndrome type II (TRPS2) or LGCR (for... more...

Description from OMIM:46 150230

Aliases & Classifications for Trichorhinophalangeal Syndrome Type Ii

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Neuronal diseases, Bone diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
langer-giedion syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

trichorhinophalangeal syndrome type ii 8 21
langer-giedion syndrome 8 21 44 48 60
trichorhinophalangeal syndrome type 2 42 20 48 60
trichorhinophalangeal syndrome, type ii 9 46
giedion-langer syndrome 42 21
langer giedion syndrome 42 22
deletion 8q24.1 42 48
monosomy 8q24.1 42 48
tricho-rhino-phalangeal syndrome type ii 21
trichorhinophalangeal dysplasia type ii 8
gene deletion abnormality 60
trps ii 21
lgs 42


External Ids:

Disease Ontology8 DOID:4998
OMIM46 150230
NCIt39 C75118
MeSH34 D015826
SNOMED-CT56 41069008, 239017000
MESH via Orphanet35 C536555, D015826
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet57 41069008
UMLS via Orphanet61 C0023003, C2931237

Related Diseases for Trichorhinophalangeal Syndrome Type Ii

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17GeneCards, 18GeneDecks
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Diseases in the Trichorhinophalangeal Syndrome Type Ii family:

Trichorhinophalangeal Syndrome Type I

Diseases related to Trichorhinophalangeal Syndrome Type Ii via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 119)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary multiple exostoses30.4TRPS1, EXT1
2cleft palate10.4
3lennox-gastaut syndrome10.3
4cornelia de lange syndrome10.3
5scimitar syndrome10.3
6cervicitis10.3
7entropion10.3
8epilepsy syndrome10.3
9image syndrome10.3
10exostoses, multiple, type 110.2
11trichorhinophalangeal syndrome type i10.0TRPS1
12hypertrichosis10.0TRPS1
13williams-beuren syndrome10.0
14cri-du-chat syndrome10.0
151p36 deletion syndrome10.0
16smith magenis syndrome10.0
171q21.1 microdeletion10.0
189q22.3 microdeletion10.0
1915q24 microdeletion syndrome10.0
20kleefstra syndrome10.0
21mitochondrial dna deletion syndromes10.0
22phelan-mcdermid syndrome10.0
23y chromosome infertility10.0
24chromosome 10p deletion10.0
25chromosome 11p deletion10.0
26chromosome 11q deletion10.0
27jacobsen syndrome10.0
28chromosome 12p deletion10.0
29chromosome 12q deletion10.0
30chromosome 13q deletion10.0
31chromosome 14q deletion10.0
32chromosome 15q deletion10.0
33chromosome 15q25.2 deletion10.0
34chromosome 16p deletion10.0
3516p11.2 deletion syndrome10.0
36chromosome 16p13.3 deletion syndrome10.0
37chromosome 16q deletion10.0
38chromosome 17p deletion10.0
39chromosome 17p13.1 deletion syndrome10.0
40chromosome 17q deletion10.0
41chromosome 19p deletion10.0
42chromosome 19q deletion10.0
43chromosome 1p deletion10.0
44chromosome 1q deletion10.0
45chromosome 1q41-q42 deletion syndrome10.0
46chromosome 20p deletion10.0
47chromosome 20q deletion10.0
48chromosome 21q deletion10.0
49chromosome 22q deletion10.0
50chromosome 2p deletion10.0

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



Diseases related to trichorhinophalangeal syndrome type ii

Clinical Features for Trichorhinophalangeal Syndrome Type Ii

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46OMIM, 48Orphanet
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Clinical features from OMIM:

150230

Symptoms:

48 (show all 43)
  • dilated cerebral ventricles without hydrocephaly
  • talipes-varus/metatarsal varus
  • genu valgum
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • simian crease/transverse/unique palmar crease
  • short hand/brachydactyly
  • conductive deafness/hearing loss
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • supernumerary teeth/polyodontia
  • congenital cardiac anomaly/malformation/cardiopathy
  • vesicorenal/vesicoureteral reflux
  • rounded nose
  • thin upper lip
  • sparse scalp hair
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • hypotonia
  • recurrent urinary infections
  • high vaulted/narrow palate
  • flared/thick ala nasi
  • broad nose/nasal bridge
  • bone pain
  • delayed bone age
  • exostoses
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • prominent/bat ears
  • low set ears/posteriorly rotated ears
  • philtrum flat/large/featureless/absent cupidon bows
  • long philtrum
  • thin/retracted lips
  • bone tumefaction/swelling
  • cone epiphyses/epiphysis
  • autosomal dominant inheritance
  • microcephaly
  • joint dislocation/subluxation
  • hyperextensible joints/articular hyperlaxity
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • loose skin/skin relaxation/excess skin/creases
  • thick/bushy eyebrows
  • hypoplastic mandibula/partial absence of the mandibula
  • short stature/dwarfism/nanism
  • insterstitial/subtelomeric microdeletion/deletion
  • long/large/bulbous nose

Drugs & Therapeutics for Trichorhinophalangeal Syndrome Type Ii

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Trichorhinophalangeal Syndrome Type Ii

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20GeneTests, 22GTR
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Genetic tests related to Trichorhinophalangeal Syndrome Type Ii:

id Genetic test Affiliating Genes
1 Trichorhinophalangeal Syndrome Type Ii20 TRPS1
2 Langer-Giedion Syndrome22

Anatomical Context for Trichorhinophalangeal Syndrome Type Ii

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32MalaCards, 14FMA
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MalaCards organs/tissues related to Trichorhinophalangeal Syndrome Type Ii:

32
Bone, Skin, Spinal cord

FMA organs/tissues related to Trichorhinophalangeal Syndrome Type Ii:

14
Epiphysis

Animal Models for Trichorhinophalangeal Syndrome Type Ii or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Trichorhinophalangeal Syndrome Type Ii:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053909.1TRPS1, EXT1
2MP:00053829.0TRPS1, EXT1
3MP:00053818.8TRPS1, EXT1

Publications for Trichorhinophalangeal Syndrome Type Ii

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50PubMed
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Articles related to Trichorhinophalangeal Syndrome Type Ii:

idTitleAuthorsYear
1
Trichorhinophalangeal syndrome type II without the chromosome 8 deletion that resembled metachondromatosis. (17688470)
2007
2
Trichorhinophalangeal syndrome, type II (Langer-Giedion syndrome). (12165224)
2001

Genetic Variations for Trichorhinophalangeal Syndrome Type Ii

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Expression for genes affiliated with Trichorhinophalangeal Syndrome Type Ii

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Trichorhinophalangeal Syndrome Type Ii

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

Pathways for genes affiliated with Trichorhinophalangeal Syndrome Type Ii

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Compounds for genes affiliated with Trichorhinophalangeal Syndrome Type Ii

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GO Terms for genes affiliated with Trichorhinophalangeal Syndrome Type Ii

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16Gene Ontology
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Biological processes related to Trichorhinophalangeal Syndrome Type Ii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1skeletal system developmentGO:0015019.1TRPS1, EXT1

Products for genes affiliated with Trichorhinophalangeal Syndrome Type Ii

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  • Antibodies
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Sources for Trichorhinophalangeal Syndrome Type Ii

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet