MCID: OST044
MIFTS: 34

Osteoglophonic Dysplasia malady

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

Aliases & Classifications for Osteoglophonic Dysplasia

About this section
Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 67UniProtKB/Swiss-Prot, 24GTR, 51Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Osteoglophonic Dysplasia:

Name: Osteoglophonic Dysplasia 49 11 45 22 23 67 24
Osteoglophonic Dwarfism 45 22 23 51 67
 
Ogd 45 23 67
Fairbank-Keats Syndrome 45 23

Characteristics:

Orphanet epidemiological data:

51
osteoglophonic dwarfism:
Inheritance: Autosomal dominant

HPO:

61
osteoglophonic dysplasia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 166250
Orphanet51 2645
ICD10 via Orphanet28 Q87.1
MESH via Orphanet37 C536050
UMLS via Orphanet66 C0432283
MedGen34 C0432283

Summaries for Osteoglophonic Dysplasia

About this section
Genetics Home Reference:23 Osteoglophonic dysplasia is a condition characterized by abnormal bone growth that leads to severe head and face (craniofacial) abnormalities, dwarfism, and other features. The term osteoglophonic refers to the bones (osteo-) having distinctive hollowed out (-glophonic) areas that appear as holes on x-ray images.

MalaCards based summary: Osteoglophonic Dysplasia, also known as osteoglophonic dwarfism, is related to mediastinitis and chordoma, and has symptoms including reduced number of teeth, short stature and abnormal form of the vertebral bodies. An important gene associated with Osteoglophonic Dysplasia is FGFR1 (Fibroblast Growth Factor Receptor 1). Affiliated tissues include bone, testes and bone marrow.

UniProtKB/Swiss-Prot:67 Osteoglophonic dysplasia: Characterized by craniosynostosis, prominent supraorbital ridge, and depressed nasal bridge, as well as by rhizomelic dwarfism and nonossifying bone lesions. Inheritance is autosomal dominant.

Description from OMIM:49 166250

Related Diseases for Osteoglophonic Dysplasia

About this section

Diseases related to Osteoglophonic Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1mediastinitis10.4
2chordoma10.3
3bronchopulmonary dysplasia10.3
4polycystic ovary syndrome10.3
5spinal muscular atrophy10.3
6adiaspiromycosis10.3
7chorioamnionitis10.3
8sarcoma10.3
9pulmonary tuberculosis10.3
10tuberculosis10.3
11lipoadenoma10.3
12muscular atrophy10.3
13cleft lip10.3
14cerebellar degeneration10.3

Graphical network of diseases related to Osteoglophonic Dysplasia:



Diseases related to osteoglophonic dysplasia

Symptoms for Osteoglophonic Dysplasia

About this section

Symptoms by clinical synopsis from OMIM:

166250

Clinical features from OMIM:

166250

Symptoms:

 51 (show all 20)
  • craniostenosis/craniosynostosis/sutural synostosis
  • hypertelorism
  • anodontia/oligodontia/hypodontia
  • abnormal vertebral size/shape
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • micrognathia/retrognathia/micrognathism/retrognathism
  • anteverted nares/nostrils
  • prominent/bat ears
  • clavicle absent/abnormal
  • rhizomelic micromelia
  • delayed bone age
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • choanal atresia
  • scoliosis
  • inguinal/inguinoscrotal/crural hernia
  • short hand/brachydactyly
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • abnormal/absent ossification

HPO human phenotypes related to Osteoglophonic Dysplasia:

(show all 62)
id Description Frequency HPO Source Accession
1 reduced number of teeth hallmark (90%) HP:0009804
2 short stature hallmark (90%) HP:0004322
3 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
4 craniosynostosis hallmark (90%) HP:0001363
5 hypertelorism hallmark (90%) HP:0000316
6 limb undergrowth typical (50%) HP:0009826
7 delayed skeletal maturation typical (50%) HP:0002750
8 abnormality of the clavicle typical (50%) HP:0000889
9 anteverted nares typical (50%) HP:0000463
10 abnormality of the pinna typical (50%) HP:0000377
11 micrognathia typical (50%) HP:0000347
12 cognitive impairment occasional (7.5%) HP:0100543
13 abnormality of bone mineral density occasional (7.5%) HP:0004348
14 hernia of the abdominal wall occasional (7.5%) HP:0004299
15 scoliosis occasional (7.5%) HP:0002650
16 brachydactyly syndrome occasional (7.5%) HP:0001156
17 choanal atresia occasional (7.5%) HP:0000453
18 cryptorchidism occasional (7.5%) HP:0000028
19 midface retrusion HP:0011800
20 short metatarsal HP:0010743
21 short metacarpal HP:0010049
22 limb undergrowth HP:0009826
23 short phalanx of finger HP:0009803
24 rhizomelia HP:0008905
25 bowing of the long bones HP:0006487
26 broad phalanx HP:0006009
27 pseudoarthrosis HP:0005864
28 depressed nasal bridge HP:0005280
29 short palm HP:0004279
30 short nose HP:0003196
31 cloverleaf skull HP:0002676
32 increased susceptibility to fractures HP:0002659
33 respiratory distress HP:0002098
34 frontal bossing HP:0002007
35 hypoplastic toenails HP:0001800
36 broad metatarsal HP:0001783
37 short foot HP:0001773
38 broad foot HP:0001769
39 nasal obstruction HP:0001742
40 abnormality of the nasopharynx HP:0001739
41 failure to thrive HP:0001508
42 craniosynostosis HP:0001363
43 broad metacarpals HP:0001230
44 broad palm HP:0001169
45 platyspondyly HP:0000926
46 hypoplastic scapulae HP:0000882
47 delayed speech and language development HP:0000750
48 unerupted tooth HP:0000706
49 shallow orbits HP:0000586
50 downslanted palpebral fissures HP:0000494
51 short neck HP:0000470
52 anteverted nares HP:0000463
53 low-set ears HP:0000369
54 long philtrum HP:0000343
55 hypertelorism HP:0000316
56 mandibular prognathia HP:0000303
57 malar flattening HP:0000272
58 high palate HP:0000218
59 hypospadias HP:0000047
60 chordee HP:0000041
61 cryptorchidism HP:0000028
62 inguinal hernia HP:0000023

Drugs & Therapeutics for Osteoglophonic Dysplasia

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Osteoglophonic Dysplasia

Genetic Tests for Osteoglophonic Dysplasia

About this section

Genetic tests related to Osteoglophonic Dysplasia:

id Genetic test Affiliating Genes
1 Osteoglophonic Dysplasia22 FGFR1

Anatomical Context for Osteoglophonic Dysplasia

About this section

MalaCards organs/tissues related to Osteoglophonic Dysplasia:

33
Bone, Testes, Bone marrow, Lung

Animal Models for Osteoglophonic Dysplasia or affiliated genes

About this section

Publications for Osteoglophonic Dysplasia

About this section

Articles related to Osteoglophonic Dysplasia:

idTitleAuthorsYear
1
Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice. (24722050)
2014
2
Low doses of Celecoxib attenuate gut barrier failure during experimental peritonitis. (24126890)
2013
3
Comparative analysis in cynomolgus macaque identifies a novel human MHC locus controlling platelet blood counts independently of BAK1. (23217248)
2013
4
ALK-negative anaplastic large cell lymphoma with extensive peripheral blood and bone marrow involvements manifested as "leukemic phase". (19695703)
2010
5
Insulin resistance and ferritin as major determinants of abnormal serum aminotransferase in severely obese children. (17907318)
2006
6
Catechol O-methyltransferase val158met genotype and neural mechanisms related to affective arousal and regulation. (17146014)
2006
7
Susceptibility of bacterial isolates from chronic canine otitis externa to twenty antibiotics. (9820118)
1998
8
A porcine trophoblast cell line that secretes growth factors which stimulate porcine macrophages. (7692989)
1993
9
The presence of platelet-activating factor binding sites in human myometrium and their role in uterine contraction. (1314480)
1992
10
'So-called' cortical deafness. Clinical, neurophysiological and radiological observations. (1782522)
1991

Variations for Osteoglophonic Dysplasia

About this section

UniProtKB/Swiss-Prot genetic disease variations for Osteoglophonic Dysplasia:

67
id Symbol AA change Variation ID SNP ID
1FGFR1p.Asn330IleVAR_030987
2FGFR1p.Tyr374CysVAR_030993
3FGFR1p.Cys381ArgVAR_030994

Clinvar genetic disease variations for Osteoglophonic Dysplasia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR1NM_023110.2(FGFR1): c.989A> T (p.Asn330Ile)single nucleotide variantPathogenicrs121909632GRCh37Chr 8, 38279407: 38279407
2FGFR1NM_023110.2(FGFR1): c.1121A> G (p.Tyr374Cys)single nucleotide variantPathogenicrs121909631GRCh37Chr 8, 38277214: 38277214
3FGFR1FGFR1, CYS379ARGsingle nucleotide variantPathogenic
4FGFR1NM_023110.2(FGFR1): c.1141T> C (p.Cys381Arg)single nucleotide variantPathogenicrs121909634GRCh37Chr 8, 38277194: 38277194

Expression for genes affiliated with Osteoglophonic Dysplasia

About this section
Search GEO for disease gene expression data for Osteoglophonic Dysplasia.

Pathways for genes affiliated with Osteoglophonic Dysplasia

About this section

GO Terms for genes affiliated with Osteoglophonic Dysplasia

About this section

Sources for Osteoglophonic Dysplasia

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet