OGD
MCID: OST044
MIFTS: 47

Osteoglophonic Dysplasia (OGD) malady

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

Aliases & Classifications for Osteoglophonic Dysplasia

Aliases & Descriptions for Osteoglophonic Dysplasia:

Name: Osteoglophonic Dysplasia 54 50 24 25 66 29 13
Osteoglophonic Dwarfism 50 24 25 56 66
Ogd 50 25 66
Fairbank-Keats Syndrome 50 25

Characteristics:

Orphanet epidemiological data:

56
osteoglophonic dwarfism
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

HPO:

32
osteoglophonic dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 166250
Orphanet 56 ORPHA2645
MESH via Orphanet 43 C536050
UMLS via Orphanet 70 C0432283
ICD10 via Orphanet 34 Q87.1
MedGen 40 C0432283

Summaries for Osteoglophonic Dysplasia

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 hypertelorism, intellectual disability and scoliosis. An important gene associated with Osteoglophonic Dysplasia is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways/superpathways are Akt Signaling and Cytokine Signaling in Immune system. Affiliated tissues include bone, and related phenotypes are Condensed cis-Golgi and Decreased human cytomegalovirus (HCMV) strain AD169 replication

UniProtKB/Swiss-Prot : 66 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: 166250

Related Diseases for Osteoglophonic Dysplasia

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

(show all 37)
id Related Disease Score Top Affiliating Genes
1 t cell immunodeficiency primary 10.0 FGFR1 FGFR3
2 ovarian epithelial cancer 10.0 FGFR1 FGFR3
3 early myoclonic encephalopathy 10.0 FGFR1 FGFR3
4 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 10.0 FGFR2 FGFR3
5 cervical spinal canal and spinal cord meningioma 10.0 FGFR2 FGFR3
6 aica-ribosiduria due to atic deficiency 10.0 FGFR2 FGFR3
7 muenke syndrome 10.0 FGFR2 FGFR3
8 lingual-facial-buccal dyskinesia 9.9 FGFR2 FGFR3
9 pkp1-related ectodermal dysplasia/skin fragility syndrome 9.9 FGFR1 FGFR2
10 sp7-related osteogenesis imperfecta 9.9 FGFR2 FGFR3
11 pitx3-related anterior segment mesenchymal dysgenesis 9.9 FGFR1 FGFR2
12 leg dermatosis 9.9 FGFR2 FGFR3
13 acrofacial dysostosis, palagonia type 9.9 FGFR1 FGFR2
14 epidemic typhus 9.9 FGFR1 FGFR2
15 hypoparathyroidism 9.9 FGFR2 FGFR3
16 hypertrophic pyloric stenosis 9.9
17 pyloric stenosis 9.9
18 juvenile astrocytoma 9.9 FGFR1 FGFR3
19 autosomal genetic disease 9.9 FGFR2 FGFR3
20 neuronitis 9.9
21 pancreatic cystadenoma 9.8 FGFR1 FGFR2
22 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 9.8 FGFR1 FGFR2
23 familial porphyria cutanea tarda 9.8 FGFR1 FGFR2 FGFR3
24 hartsfield syndrome 9.8 FGFR1 FGFR2 FGFR3
25 pointer syndrome 9.8 FGFR1 FGFR2 FGFR3
26 crouzon syndrome with acanthosis nigricans 9.7 FGFR1 FGFR2 FGFR3
27 scaphocephaly, maxillary retrusion, and mental retardation 9.7 FGFR1 FGFR2 FGFR3
28 apert syndrome 9.7 FGFR1 FGFR2 FGFR3
29 cervical cancer, somatic 9.7 FGFR1 FGFR2 FGFR3
30 thanatophoric dysplasia, type i 9.7 FGFR1 FGFR2 FGFR3
31 saddan 9.7 FGFR1 FGFR2 FGFR3
32 robinow-sorauf syndrome 9.7 FGFR1 FGFR2 FGFR3
33 bone structure disease 9.7 FGFR1 FGFR2 FGFR3
34 atrophy of testis 9.7 FGFR1 FGFR2 FGFR3
35 hypogonadotropic hypogonadism 2 with or without anosmia 9.7 FGFR1 FGFR2 FGFR3
36 cutaneous leishmaniasis 9.7 FGFR1 FGFR2 FGFR3
37 taeniasis 9.7 FGFR1 FGFR2

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



Diseases related to Osteoglophonic Dysplasia

Symptoms & Phenotypes for Osteoglophonic Dysplasia

Symptoms by clinical synopsis from OMIM:

166250

Clinical features from OMIM:

166250

Human phenotypes related to Osteoglophonic Dysplasia:

56 32 (show top 50) (show all 58)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
2 intellectual disability 56 32 Occasional (29-5%) HP:0001249
3 scoliosis 56 32 Occasional (29-5%) HP:0002650
4 inguinal hernia 56 32 Occasional (29-5%) HP:0000023
5 delayed skeletal maturation 56 32 Frequent (79-30%) HP:0002750
6 anteverted nares 56 32 Frequent (79-30%) HP:0000463
7 micrognathia 56 32 Frequent (79-30%) HP:0000347
8 abnormal form of the vertebral bodies 56 32 Very frequent (99-80%) HP:0003312
9 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
10 protruding ear 56 32 Frequent (79-30%) HP:0000411
11 rhizomelia 56 32 Frequent (79-30%) HP:0008905
12 brachydactyly syndrome 56 32 Occasional (29-5%) HP:0001156
13 abnormal bone ossification 56 32 Occasional (29-5%) HP:0011849
14 choanal atresia 56 32 Occasional (29-5%) HP:0000453
15 reduced number of teeth 56 32 Very frequent (99-80%) HP:0009804
16 severe short stature 56 32 Very frequent (99-80%) HP:0003510
17 failure to thrive in infancy 56 32 Frequent (79-30%) HP:0001531
18 craniosynostosis 56 32 Very frequent (99-80%) HP:0001363
19 abnormality of the clavicle 56 32 Frequent (79-30%) HP:0000889
20 multiple unerupted teeth 56 32 Very frequent (99-80%) HP:0006283
21 respiratory distress 32 HP:0002098
22 malar flattening 32 HP:0000272
23 low-set ears 32 HP:0000369
24 short neck 32 HP:0000470
25 frontal bossing 32 HP:0002007
26 high palate 32 HP:0000218
27 failure to thrive 32 HP:0001508
28 mandibular prognathia 32 HP:0000303
29 depressed nasal bridge 32 HP:0005280
30 bowing of the long bones 32 HP:0006487
31 delayed speech and language development 32 HP:0000750
32 short nose 32 HP:0003196
33 long philtrum 32 HP:0000343
34 cloverleaf skull 32 HP:0002676
35 platyspondyly 32 HP:0000926
36 short palm 32 HP:0004279
37 short foot 32 HP:0001773
38 hypoplastic toenails 32 HP:0001800
39 hypospadias 32 HP:0000047
40 downslanted palpebral fissures 32 HP:0000494
41 midface retrusion 32 HP:0011800
42 short metacarpal 32 HP:0010049
43 broad foot 32 HP:0001769
44 broad palm 32 HP:0001169
45 hypoplastic scapulae 32 HP:0000882
46 short phalanx of finger 32 HP:0009803
47 increased susceptibility to fractures 32 HP:0002659
48 short metatarsal 32 HP:0010743
49 limb undergrowth 32 HP:0009826
50 chordee 32 HP:0000041

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Condensed cis-Golgi GR00365-A 9.16 FGFR1 FGFR2
2 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.13 FGFR1 FGFR2 FGFR3
3 Decreased substrate adherent cell growth GR00193-A-2 8.8 FGFR2
4 Decreased substrate adherent cell growth GR00193-A-3 8.8 FGFR2 FGFR3

MGI Mouse Phenotypes related to Osteoglophonic Dysplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.54 FGFR1 FGFR2 FGFR3
2 digestive/alimentary MP:0005381 9.5 FGFR1 FGFR2 FGFR3
3 hearing/vestibular/ear MP:0005377 9.43 FGFR1 FGFR2 FGFR3
4 limbs/digits/tail MP:0005371 9.33 FGFR1 FGFR2 FGFR3
5 no phenotypic analysis MP:0003012 9.13 FGFR1 FGFR2 FGFR3
6 renal/urinary system MP:0005367 8.8 FGFR1 FGFR2 FGFR3

Drugs & Therapeutics for Osteoglophonic Dysplasia

Search Clinical Trials , NIH Clinical Center for Osteoglophonic Dysplasia

Genetic Tests for Osteoglophonic Dysplasia

Genetic tests related to Osteoglophonic Dysplasia:

id Genetic test Affiliating Genes
1 Osteoglophonic Dysplasia 29 24 FGFR1

Anatomical Context for Osteoglophonic Dysplasia

MalaCards organs/tissues related to Osteoglophonic Dysplasia:

39
Bone

Publications for Osteoglophonic Dysplasia

Articles related to Osteoglophonic Dysplasia:

(show all 11)
id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 FGFR1 p.Asn330Ile VAR_030987 rs121909632
2 FGFR1 p.Tyr374Cys VAR_030993 rs121909631
3 FGFR1 p.Cys381Arg VAR_030994 rs121909634

ClinVar genetic disease variations for Osteoglophonic Dysplasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FGFR1 FGFR1, CYS379ARG single nucleotide variant Pathogenic
2 FGFR1 NM_023110.2(FGFR1): c.989A> T (p.Asn330Ile) single nucleotide variant Pathogenic rs121909632 GRCh37 Chromosome 8, 38279407: 38279407
3 FGFR1 NM_023110.2(FGFR1): c.1121A> G (p.Tyr374Cys) single nucleotide variant Pathogenic rs121909631 GRCh37 Chromosome 8, 38277214: 38277214
4 FGFR1 NM_023110.2(FGFR1): c.1141T> C (p.Cys381Arg) single nucleotide variant Pathogenic rs121909634 GRCh37 Chromosome 8, 38277194: 38277194

Expression for Osteoglophonic Dysplasia

Search GEO for disease gene expression data for Osteoglophonic Dysplasia.

Pathways for Osteoglophonic Dysplasia

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

(show all 39)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13 FGFR1 FGFR2 FGFR3
2
Show member pathways
12.96 FGFR1 FGFR2 FGFR3
3
Show member pathways
12.93 FGFR1 FGFR2 FGFR3
4
Show member pathways
12.91 FGFR1 FGFR2 FGFR3
5
Show member pathways
12.89 FGFR1 FGFR2 FGFR3
6
Show member pathways
12.77 FGFR1 FGFR2 FGFR3
7
Show member pathways
12.73 FGFR1 FGFR2 FGFR3
8
Show member pathways
12.71 FGFR1 FGFR2 FGFR3
9
Show member pathways
12.68 FGFR1 FGFR2 FGFR3
10
Show member pathways
12.65 FGFR1 FGFR2 FGFR3
11
Show member pathways
12.55 FGFR1 FGFR2 FGFR3
12
Show member pathways
12.54 FGFR1 FGFR2 FGFR3
13
Show member pathways
12.43 FGFR1 FGFR2 FGFR3
14
Show member pathways
12.43 FGFR1 FGFR2 FGFR3
15 12.41 FGFR1 FGFR2 FGFR3
16
Show member pathways
12.39 FGFR1 FGFR2 FGFR3
17 12.36 FGFR1 FGFR2 FGFR3
18 12.32 FGFR1 FGFR2 FGFR3
19 12.29 FGFR1 FGFR2 FGFR3
20
Show member pathways
12.27 FGFR1 FGFR2 FGFR3
21
Show member pathways
12.19 FGFR1 FGFR2 FGFR3
22
Show member pathways
12.12 FGFR1 FGFR2 FGFR3
23
Show member pathways
12.12 FGFR1 FGFR2 FGFR3
24
Show member pathways
12.07 FGFR1 FGFR2 FGFR3
25
Show member pathways
12.07 FGFR1 FGFR2 FGFR3
26
Show member pathways
11.94 FGFR1 FGFR2 FGFR3
27
Show member pathways
11.89 FGFR1 FGFR2 FGFR3
28
Show member pathways
11.82 FGFR1 FGFR2 FGFR3
29
Show member pathways
11.78 FGFR1 FGFR2 FGFR3
30 11.7 FGFR1 FGFR2 FGFR3
31 11.64 FGFR1 FGFR2 FGFR3
32 11.56 FGFR1 FGFR3
33 11.45 FGFR1 FGFR3
34 11.44 FGFR1 FGFR2 FGFR3
35 11.42 FGFR1 FGFR2 FGFR3
36 11.29 FGFR1 FGFR2
37 11.27 FGFR1 FGFR2 FGFR3
38 10.94 FGFR1 FGFR2 FGFR3
39 10.45 FGFR1 FGFR2 FGFR3

GO Terms for Osteoglophonic Dysplasia

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

id Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.13 FGFR1 FGFR2 FGFR3
2 cytoplasmic vesicle GO:0031410 8.8 FGFR1 FGFR2 FGFR3

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

(show all 35)
id Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.83 FGFR1 FGFR2 FGFR3
2 protein phosphorylation GO:0006468 9.82 FGFR1 FGFR2 FGFR3
3 positive regulation of GTPase activity GO:0043547 9.81 FGFR1 FGFR2 FGFR3
4 positive regulation of cell proliferation GO:0008284 9.8 FGFR1 FGFR2 FGFR3
5 MAPK cascade GO:0000165 9.74 FGFR1 FGFR2 FGFR3
6 protein autophosphorylation GO:0046777 9.7 FGFR1 FGFR2 FGFR3
7 peptidyl-tyrosine phosphorylation GO:0018108 9.69 FGFR1 FGFR2 FGFR3
8 in utero embryonic development GO:0001701 9.67 FGFR1 FGFR2
9 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.66 FGFR2 FGFR3
10 skeletal system development GO:0001501 9.66 FGFR1 FGFR3
11 lung development GO:0030324 9.65 FGFR1 FGFR2
12 inner ear morphogenesis GO:0042472 9.65 FGFR1 FGFR2
13 phosphatidylinositol-mediated signaling GO:0048015 9.65 FGFR1 FGFR2 FGFR3
14 ureteric bud development GO:0001657 9.63 FGFR1 FGFR2
15 skeletal system morphogenesis GO:0048705 9.62 FGFR1 FGFR2
16 chondrocyte differentiation GO:0002062 9.62 FGFR1 FGFR3
17 positive regulation of cell cycle GO:0045787 9.61 FGFR1 FGFR2
18 midbrain development GO:0030901 9.61 FGFR1 FGFR2
19 phosphatidylinositol phosphorylation GO:0046854 9.61 FGFR1 FGFR2 FGFR3
20 bone mineralization GO:0030282 9.6 FGFR2 FGFR3
21 bone morphogenesis GO:0060349 9.59 FGFR2 FGFR3
22 positive regulation of mesenchymal cell proliferation GO:0002053 9.58 FGFR1 FGFR2
23 positive regulation of cardiac muscle cell proliferation GO:0060045 9.58 FGFR1 FGFR2
24 positive regulation of MAPK cascade GO:0043410 9.58 FGFR1 FGFR2 FGFR3
25 branching involved in salivary gland morphogenesis GO:0060445 9.56 FGFR1 FGFR2
26 lung-associated mesenchyme development GO:0060484 9.55 FGFR1 FGFR2
27 mesenchymal cell differentiation GO:0048762 9.54 FGFR1 FGFR2
28 fibroblast growth factor receptor signaling pathway GO:0008543 9.5 FGFR1 FGFR2 FGFR3
29 endochondral bone growth GO:0003416 9.49 FGFR2 FGFR3
30 orbitofrontal cortex development GO:0021769 9.46 FGFR1 FGFR2
31 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.43 FGFR1 FGFR2 FGFR3
32 ventricular zone neuroblast division GO:0021847 9.37 FGFR1 FGFR2
33 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.16 FGFR1 FGFR2
34 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.13 FGFR1 FGFR2 FGFR3
35 positive regulation of phospholipase activity GO:0010518 8.8 FGFR1 FGFR2 FGFR3

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.65 FGFR1 FGFR2 FGFR3
2 protein kinase activity GO:0004672 9.63 FGFR1 FGFR2 FGFR3
3 nucleotide binding GO:0000166 9.61 FGFR1 FGFR2 FGFR3
4 protein tyrosine kinase activity GO:0004713 9.58 FGFR1 FGFR2 FGFR3
5 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.54 FGFR1 FGFR2 FGFR3
6 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.5 FGFR1 FGFR2 FGFR3
7 heparin binding GO:0008201 9.49 FGFR1 FGFR2
8 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 FGFR1 FGFR2 FGFR3
9 1-phosphatidylinositol-3-kinase activity GO:0016303 9.33 FGFR1 FGFR2 FGFR3
10 fibroblast growth factor binding GO:0017134 9.13 FGFR1 FGFR2 FGFR3
11 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR1 FGFR2 FGFR3

Sources for Osteoglophonic Dysplasia

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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