OGD
MCID: OST044
MIFTS: 47

Osteoglophonic Dysplasia (OGD) malady

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

Aliases & Classifications for Osteoglophonic Dysplasia

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Sources:
12diseasecard, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Osteoglophonic Dysplasia:

Name: Osteoglophonic Dysplasia 52 48 24 25 70 27 12
Osteoglophonic Dwarfism 48 24 25 54 70
 
Ogd 48 25 70
Fairbank-Keats Syndrome 48 25

Characteristics:

Orphanet epidemiological data:

54
osteoglophonic dwarfism:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile

HPO:

64
osteoglophonic dysplasia:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 166250
Orphanet54 ORPHA2645
MESH via Orphanet40 C536050
UMLS via Orphanet69 C0432283
ICD10 via Orphanet31 Q87.1
MedGen37 C0432283

Summaries for Osteoglophonic Dysplasia

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Genetics Home Reference:25 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 t cell immunodeficiency primary and ovarian epithelial cancer, and has symptoms including Array, Array and Array. An important gene associated with Osteoglophonic Dysplasia is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways are Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Endochondral Ossification. Affiliated tissues include bone, and related mouse phenotypes are Decreased substrate adherent cell growth and Condensed cis-Golgi.

UniProtKB/Swiss-Prot:70 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:52 166250

Related Diseases for Osteoglophonic Dysplasia

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

(show all 37)
idRelated DiseaseScoreTop Affiliating Genes
1t cell immunodeficiency primary10.0FGFR1, FGFR3
2ovarian epithelial cancer10.0FGFR1, FGFR3
3early myoclonic encephalopathy10.0FGFR1, FGFR3
4antley-bixler syndrome without genital anomalies or disordered steroidogenesis10.0FGFR2, FGFR3
5cervical spinal canal and spinal cord meningioma10.0FGFR2, FGFR3
6aica-ribosiduria due to atic deficiency10.0FGFR2, FGFR3
7muenke syndrome10.0FGFR2, FGFR3
8lingual-facial-buccal dyskinesia9.9FGFR2, FGFR3
9pkp1-related ectodermal dysplasia/skin fragility syndrome9.9FGFR1, FGFR2
10sp7-related osteogenesis imperfecta9.9FGFR2, FGFR3
11pitx3-related anterior segment mesenchymal dysgenesis9.9FGFR1, FGFR2
12leg dermatosis9.9FGFR2, FGFR3
13acrofacial dysostosis, palagonia type9.9FGFR1, FGFR2
14epidemic typhus9.9FGFR1, FGFR2
15hypoparathyroidism9.9FGFR2, FGFR3
16hypertrophic pyloric stenosis9.9
17pyloric stenosis9.9
18juvenile astrocytoma9.9FGFR1, FGFR3
19autosomal genetic disease9.9FGFR2, FGFR3
20neuronitis9.9
21pancreatic cystadenoma9.8FGFR1, FGFR2
22myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency9.8FGFR1, FGFR2
23familial porphyria cutanea tarda9.8FGFR1, FGFR2, FGFR3
24hartsfield syndrome9.8FGFR1, FGFR2, FGFR3
25pointer syndrome9.8FGFR1, FGFR2, FGFR3
26crouzon syndrome with acanthosis nigricans9.7FGFR1, FGFR2, FGFR3
27scaphocephaly, maxillary retrusion, and mental retardation9.7FGFR1, FGFR2, FGFR3
28apert syndrome9.7FGFR1, FGFR2, FGFR3
29cervical cancer, somatic9.7FGFR1, FGFR2, FGFR3
30thanatophoric dysplasia, type i9.7FGFR1, FGFR2, FGFR3
31saddan9.7FGFR1, FGFR2, FGFR3
32robinow-sorauf syndrome9.7FGFR1, FGFR2, FGFR3
33bone structure disease9.7FGFR1, FGFR2, FGFR3
34atrophy of testis9.7FGFR1, FGFR2, FGFR3
35hypogonadotropic hypogonadism 2 with or without anosmia9.7FGFR1, FGFR2, FGFR3
36cutaneous leishmaniasis9.7FGFR1, FGFR2, FGFR3
37taeniasis9.7FGFR1, FGFR2

Graphical network of the top 20 diseases related to Osteoglophonic Dysplasia:



Diseases related to osteoglophonic dysplasia

Symptoms & Phenotypes for Osteoglophonic Dysplasia

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Symptoms by clinical synopsis from OMIM:

166250

Clinical features from OMIM:

166250

Human phenotypes related to Osteoglophonic Dysplasia:

 54 64 (show all 58)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia64 54 Occasional (29-5%) HP:0000023
2 cryptorchidism64 54 Occasional (29-5%) HP:0000028
3 hypertelorism64 54 Very frequent (99-80%) HP:0000316
4 micrognathia64 54 Frequent (79-30%) HP:0000347
5 protruding ear64 54 Frequent (79-30%) HP:0000411
6 choanal atresia64 54 Occasional (29-5%) HP:0000453
7 anteverted nares64 54 Frequent (79-30%) HP:0000463
8 abnormality of the clavicle64 54 Frequent (79-30%) HP:0000889
9 brachydactyly syndrome64 54 Occasional (29-5%) HP:0001156
10 intellectual disability64 54 Occasional (29-5%) HP:0001249
11 craniosynostosis64 54 Very frequent (99-80%) HP:0001363
12 failure to thrive in infancy64 54 Frequent (79-30%) HP:0001531
13 scoliosis64 54 Occasional (29-5%) HP:0002650
14 delayed skeletal maturation64 54 Frequent (79-30%) HP:0002750
15 abnormal form of the vertebral bodies64 54 Very frequent (99-80%) HP:0003312
16 severe short stature64 54 Very frequent (99-80%) HP:0003510
17 multiple unerupted teeth64 54 Very frequent (99-80%) HP:0006283
18 rhizomelia64 54 Frequent (79-30%) HP:0008905
19 reduced number of teeth64 54 Very frequent (99-80%) HP:0009804
20 abnormal bone ossification64 54 Occasional (29-5%) HP:0011849
21 chordee64 HP:0000041
22 hypospadias64 HP:0000047
23 high palate64 HP:0000218
24 malar flattening64 HP:0000272
25 mandibular prognathia64 HP:0000303
26 long philtrum64 HP:0000343
27 low-set ears64 HP:0000369
28 short neck64 HP:0000470
29 downslanted palpebral fissures64 HP:0000494
30 shallow orbits64 HP:0000586
31 unerupted tooth64 HP:0000706
32 delayed speech and language development64 HP:0000750
33 hypoplastic scapulae64 HP:0000882
34 platyspondyly64 HP:0000926
35 broad palm64 HP:0001169
36 broad metacarpals64 HP:0001230
37 failure to thrive64 HP:0001508
38 abnormality of the nasopharynx64 HP:0001739
39 nasal obstruction64 HP:0001742
40 broad foot64 HP:0001769
41 short foot64 HP:0001773
42 broad metatarsal64 HP:0001783
43 hypoplastic toenails64 HP:0001800
44 frontal bossing64 HP:0002007
45 respiratory distress64 HP:0002098
46 increased susceptibility to fractures64 HP:0002659
47 cloverleaf skull64 HP:0002676
48 short nose64 HP:0003196
49 short palm64 HP:0004279
50 depressed nasal bridge64 HP:0005280
51 pseudoarthrosis64 HP:0005864
52 broad phalanx64 HP:0006009
53 bowing of the long bones64 HP:0006487
54 short phalanx of finger64 HP:0009803
55 limb undergrowth64 HP:0009826
56 short metacarpal64 HP:0010049
57 short metatarsal64 HP:0010743
58 midface retrusion64 HP:0011800

GenomeRNAi Phenotypes related to Osteoglophonic Dysplasia according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00193-A-39.9FGFR2, FGFR3
2GR00365-A9.8FGFR1, FGFR2
3GR00248-A9.3FGFR1, FGFR2, FGFR3

MGI Mouse Phenotypes related to Osteoglophonic Dysplasia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.3FGFR1, FGFR2, FGFR3
2MP:00053819.3FGFR1, FGFR2, FGFR3
3MP:00053779.3FGFR1, FGFR2, FGFR3
4MP:00053719.3FGFR1, FGFR2, FGFR3
5MP:00030129.2FGFR1, FGFR2, FGFR3
6MP:00053678.5FGFR1, FGFR2, FGFR3

Drugs & Therapeutics for Osteoglophonic Dysplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Osteoglophonic Dysplasia

Genetic Tests for Osteoglophonic Dysplasia

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Genetic tests related to Osteoglophonic Dysplasia:

id Genetic test Affiliating Genes
1 Osteoglophonic Dysplasia27 24 FGFR1

Anatomical Context for Osteoglophonic Dysplasia

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MalaCards organs/tissues related to Osteoglophonic Dysplasia:

36
Bone

Publications for Osteoglophonic Dysplasia

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Articles related to Osteoglophonic Dysplasia:

(show all 11)
idTitleAuthorsYear
1
Adult-Onset Idiopathic Hypertrophic Pyloric Stenosis Associated With Osteoglophonic Dysplasia and HIV: Case Report and Review of Literature. (27599310)
2016
2
Osteoglophonic dysplasia: a case report. (20339250)
2010
3
Osteoglophonic dysplasia: A 'common' mutation in a rare disease. (20236123)
2010
4
Osteoglophonic dysplasia: dental and orthodontic implications. (16918680)
2006
5
Extended mutational analyses of FGFR1 in osteoglophonic dysplasia. (16470795)
2006
6
Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. (15625620)
2005
7
Osteoglophonic dysplasia: appearance and progression of multiple nonossifying fibromata. (8995175)
1997
8
Osteoglophonic dysplasia: review and further delineation of the syndrome. (8958322)
1996
9
Osteoglophonic dysplasia. (2325100)
1990
10
Osteoglophonic dysplasia. (2810341)
1989
11
Osteoglophonic dysplasia: a new case. (3409933)
1988

Variations for Osteoglophonic Dysplasia

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

70
id Symbol AA change Variation ID SNP ID
1FGFR1p.Asn330IleVAR_030987rs121909632
2FGFR1p.Tyr374CysVAR_030993rs121909631
3FGFR1p.Cys381ArgVAR_030994rs121909634

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)SNVPathogenicrs121909632GRCh37Chr 8, 38279407: 38279407
2FGFR1NM_ 023110.2(FGFR1): c.1121A> G (p.Tyr374Cys)SNVPathogenicrs121909631GRCh37Chr 8, 38277214: 38277214
3FGFR1FGFR1, CYS379ARGSNVPathogenic
4FGFR1NM_ 023110.2(FGFR1): c.1141T> C (p.Cys381Arg)SNVPathogenicrs121909634GRCh37Chr 8, 38277194: 38277194

Expression for genes affiliated with Osteoglophonic Dysplasia

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Search GEO for disease gene expression data for Osteoglophonic Dysplasia.

Pathways for genes affiliated with Osteoglophonic Dysplasia

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Pathways related to Osteoglophonic Dysplasia according to GeneCards Suite gene sharing:

(show all 39)
idSuper pathwaysScoreTop Affiliating Genes
19.3FGFR1, FGFR3
29.3FGFR1, FGFR3
39.0FGFR1, FGFR2
4
Show member pathways
8.5FGFR1, FGFR2, FGFR3
5
Show member pathways
8.5FGFR1, FGFR2, FGFR3
6
Show member pathways
8.5FGFR1, FGFR2, FGFR3
7
Show member pathways
8.5FGFR1, FGFR2, FGFR3
8
Show member pathways
8.5FGFR1, FGFR2, FGFR3
9
Show member pathways
8.5FGFR1, FGFR2, FGFR3
10
Show member pathways
8.5FGFR1, FGFR2, FGFR3
11
Show member pathways
8.5FGFR1, FGFR2, FGFR3
12
Show member pathways
8.5FGFR1, FGFR2, FGFR3
13
Show member pathways
8.5FGFR1, FGFR2, FGFR3
14
Show member pathways
8.5FGFR1, FGFR2, FGFR3
15
Show member pathways
8.5FGFR1, FGFR2, FGFR3
16
Show member pathways
8.5FGFR1, FGFR2, FGFR3
17
Show member pathways
8.5FGFR1, FGFR2, FGFR3
18
Show member pathways
8.5FGFR1, FGFR2, FGFR3
19
Show member pathways
8.5FGFR1, FGFR2, FGFR3
208.5FGFR1, FGFR2, FGFR3
21
Show member pathways
8.5FGFR1, FGFR2, FGFR3
22
Show member pathways
8.5FGFR1, FGFR2, FGFR3
23
Show member pathways
8.5FGFR1, FGFR2, FGFR3
248.5FGFR1, FGFR2, FGFR3
258.5FGFR1, FGFR2, FGFR3
268.5FGFR1, FGFR2, FGFR3
27
Show member pathways
8.5FGFR1, FGFR2, FGFR3
288.5FGFR1, FGFR2, FGFR3
29
Show member pathways
8.5FGFR1, FGFR2, FGFR3
30
Show member pathways
8.5FGFR1, FGFR2, FGFR3
31
Show member pathways
8.5FGFR1, FGFR2, FGFR3
328.5FGFR1, FGFR2, FGFR3
33
Show member pathways
8.5FGFR1, FGFR2, FGFR3
348.5FGFR1, FGFR2, FGFR3
35
Show member pathways
8.5FGFR1, FGFR2, FGFR3
36
Show member pathways
8.5FGFR1, FGFR2, FGFR3
37
Show member pathways
8.5FGFR1, FGFR2, FGFR3
38
Show member pathways
8.5FGFR1, FGFR2, FGFR3
398.5FGFR1, FGFR2, FGFR3

GO Terms for genes affiliated with Osteoglophonic Dysplasia

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Cellular components related to Osteoglophonic Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic vesicleGO:00314109.2FGFR1, FGFR2, FGFR3
2integral component of plasma membraneGO:00058878.5FGFR1, FGFR2, FGFR3

Biological processes related to Osteoglophonic Dysplasia according to GeneCards Suite gene sharing:

(show all 35)
idNameGO IDScoreTop Affiliating Genes
1chondrocyte differentiationGO:000206210.1FGFR1, FGFR3
2bone mineralizationGO:00302829.9FGFR2, FGFR3
3bone morphogenesisGO:00603499.9FGFR2, FGFR3
4endochondral bone growthGO:00034169.9FGFR2, FGFR3
5positive regulation of ERK1 and ERK2 cascadeGO:00703749.9FGFR2, FGFR3
6skeletal system developmentGO:00015019.8FGFR1, FGFR3
7branching involved in salivary gland morphogenesisGO:00604459.8FGFR1, FGFR2
8fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.8FGFR1, FGFR2
9in utero embryonic developmentGO:00017019.8FGFR1, FGFR2
10inner ear morphogenesisGO:00424729.8FGFR1, FGFR2
11lung developmentGO:00303249.8FGFR1, FGFR2
12lung-associated mesenchyme developmentGO:00604849.8FGFR1, FGFR2
13mesenchymal cell differentiationGO:00487629.8FGFR1, FGFR2
14midbrain developmentGO:00309019.8FGFR1, FGFR2
15orbitofrontal cortex developmentGO:00217699.8FGFR1, FGFR2
16positive regulation of cardiac muscle cell proliferationGO:00600459.8FGFR1, FGFR2
17positive regulation of cell cycleGO:00457879.8FGFR1, FGFR2
18positive regulation of mesenchymal cell proliferationGO:00020539.7FGFR1, FGFR2
19skeletal system morphogenesisGO:00487059.5FGFR1, FGFR2
20fibroblast growth factor receptor signaling pathwayGO:00085439.3FGFR1, FGFR2, FGFR3
21MAPK cascadeGO:00001659.3FGFR1, FGFR2, FGFR3
22peptidyl-tyrosine phosphorylationGO:00181089.3FGFR1, FGFR2, FGFR3
23phosphatidylinositol phosphorylationGO:00468549.3FGFR1, FGFR2, FGFR3
24phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.3FGFR1, FGFR2, FGFR3
25phosphatidylinositol-mediated signalingGO:00480159.3FGFR1, FGFR2, FGFR3
26phosphorylationGO:00163109.3FGFR1, FGFR2, FGFR3
27positive regulation of cell proliferationGO:00082849.3FGFR1, FGFR2, FGFR3
28positive regulation of GTPase activityGO:00435479.2FGFR1, FGFR2, FGFR3
29positive regulation of MAPK cascadeGO:00434109.2FGFR1, FGFR2, FGFR3
30positive regulation of phospholipase activityGO:00105189.2FGFR1, FGFR2, FGFR3
31protein autophosphorylationGO:00467779.2FGFR1, FGFR2, FGFR3
32protein phosphorylationGO:00064689.1FGFR1, FGFR2, FGFR3
33regulation of phosphatidylinositol 3-kinase signalingGO:00140669.1FGFR1, FGFR2, FGFR3
34ureteric bud developmentGO:00016579.0FGFR1, FGFR2
35ventricular zone neuroblast divisionGO:00218479.0FGFR1, FGFR2

Molecular functions related to Osteoglophonic Dysplasia according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:00082019.8FGFR1, FGFR2
21-phosphatidylinositol-3-kinase activityGO:00163039.3FGFR1, FGFR2, FGFR3
3fibroblast growth factor bindingGO:00171349.3FGFR1, FGFR2, FGFR3
4fibroblast growth factor-activated receptor activityGO:00050079.3FGFR1, FGFR2, FGFR3
5kinase activityGO:00163019.2FGFR1, FGFR2, FGFR3
6nucleotide bindingGO:00001669.2FGFR1, FGFR2, FGFR3
7phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.2FGFR1, FGFR2, FGFR3
8protein kinase activityGO:00046729.1FGFR1, FGFR2, FGFR3
9protein tyrosine kinase activityGO:00047139.1FGFR1, FGFR2, FGFR3
10Ras guanyl-nucleotide exchange factor activityGO:00050889.0FGFR1, FGFR2, FGFR3
11transmembrane receptor protein tyrosine kinase activityGO:00047148.5FGFR1, FGFR2, FGFR3

Sources for Osteoglophonic Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet