OGD
MCID: OST044
MIFTS: 55

Osteoglophonic Dysplasia (OGD)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Osteoglophonic Dysplasia

MalaCards integrated aliases for Osteoglophonic Dysplasia:

Name: Osteoglophonic Dysplasia 57 12 20 43 72 36 29 13 6 15
Osteoglophonic Dwarfism 57 12 73 20 43 58 72 44
Ogd 57 12 20 43 72
Fairbank-Keats Syndrome 12 20 43
Osteoglosphonic Dysplasia 58
Dysplasia, Osteoglophonic 39

Characteristics:

Orphanet epidemiological data:

58
osteoglosphonic dysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
osteoglophonic, derived from greek meaning "hollowed out"


HPO:

31
osteoglophonic dysplasia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Osteoglophonic Dysplasia

MedlinePlus Genetics : 43 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.Premature fusion of certain bones in the skull (craniosynostosis) typically occurs in osteoglophonic dysplasia. The craniosynostosis associated with this disorder may give the head a tall appearance, often referred to in the medical literature as a tower-shaped skull, or a relatively mild version of a deformity called a cloverleaf skull. Characteristic facial features in people with osteoglophonic dysplasia include a prominent forehead (frontal bossing), widely spaced eyes (hypertelorism), flattening of the bridge of the nose and of the middle of the face (midface hypoplasia), a large tongue (macroglossia), a protruding jaw (prognathism), and a short neck. People with this condition usually have no visible teeth because the teeth never emerge from the jaw (clinical anodontia). In addition, the gums are often overgrown (hypertrophic gingiva).Infants with osteoglophonic dysplasia often experience failure to thrive, which means they do not gain weight and grow at the expected rate. Affected individuals have short, bowed legs and arms and are short in stature. They also have flat feet and short, broad hands and fingers.The life expectancy of people with osteoglophonic dysplasia depends on the extent of their craniofacial abnormalities; those that obstruct the air passages and affect the mouth and teeth can lead to respiratory problems and cause difficulty with eating and drinking. Despite the skull abnormalities, intelligence is generally not affected in this disorder.

MalaCards based summary : Osteoglophonic Dysplasia, also known as osteoglophonic dwarfism, is related to craniosynostosis and hypophosphatemia. An important gene associated with Osteoglophonic Dysplasia is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways/superpathways are ERK Signaling and Developmental Biology. Affiliated tissues include tongue and bone, and related phenotypes are hypertelorism and abnormal form of the vertebral bodies

Disease Ontology : 12 An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has material basis in heterozygous missense mutation in FGFR1 on chromosome 8p11.23.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2645 Definition A rare disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth. Epidemiology Less than ten cases have been reported so far. Clinical description Main clinical features include craniosynostosis, acrocephaly, a prominent forehead, depressed nasal bridge, hypertelorism, midface hypoplasia, macroglossia, unerupted teeth, short neck, short and bowed limbs, short and broad hands and fingers, and flat feet. The main radiographic features are craniostenosis, fibrous dysplasia, metaphyseal lucencies and platyspondyly. Intelligence is usually normal. Etiology Osteoglosphonic dysplasia (OGD) is caused by mutations in the FGFR1 gene (8p11.2-p11.1). Genetic counseling OGD is transmitted in an autosomal dominant manner.

KEGG : 36 Osteoglophonic dysplasia (OD) or osteoglophonic dwarfism (OGD) is an autosomal dominant disorder that has skeletal phenotypes of craniosynostosis. Missense mutation of FGFR1 has been reported.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Dwarfism occurs when an organism is extremely small. In humans, it is sometimes defined as an adult... more...

More information from OMIM: 166250

Related Diseases for Osteoglophonic Dysplasia

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

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 craniosynostosis 29.7 PHEX FGFR3 FGFR2 FGFR1 FGF1 ENPP1
2 hypophosphatemia 27.8 SLC34A3 PHEX MEPE KL FGFR1 FGF23
3 hypophosphatemic rickets, x-linked dominant 27.5 SLC34A3 PHEX MEPE KL GALNT3 FGFR1
4 hemifacial hyperplasia 10.3 FGFR3 FGFR2
5 testicular spermatocytic seminoma 10.3 FGFR3 FGFR2
6 cerebral artery occlusion 10.3
7 synovial chondromatosis 10.3 FGFR3 FGFR1
8 dacryocystocele 10.3 FGFR3 FGFR2
9 chronic inflammation of lacrimal passage 10.3 FGFR3 FGFR2
10 luteoma 10.2 FGFR3 FGFR2
11 opsismodysplasia 10.2 PHEX FGF23
12 neuroblastoma 10.2
13 blount's disease 10.2 SLC34A3 FGF23
14 acanthoma 10.2 FGFR3 FGFR2
15 achondroplasia 10.2 FGFR3 FGFR2 FGFR1
16 synostosis 10.2 FGFR3 FGFR2 FGFR1
17 fgfr craniosynostosis syndromes 10.2 FGFR3 FGFR2 FGFR1
18 microcephaly and chorioretinopathy 1 10.2 FGF23 FAM20C
19 fanconi renotubular syndrome 2 10.2 SLC34A3 PHEX
20 stroke, ischemic 10.2
21 plagiocephaly 10.2 FGFR3 FGFR2 FGFR1
22 syndromic craniosynostosis 10.2 FGFR3 FGFR2 FGFR1
23 hypertelorism, microtia, facial clefting syndrome 10.2 FGFR3 FGFR2 FGFR1
24 deafness, autosomal recessive 71 10.2 FGFR3 FGFR2 FGFR1
25 muenke syndrome 10.2 FGFR3 FGFR2 FGFR1
26 radioulnar synostosis 10.2 FGFR3 FGFR2 FGFR1
27 antley-bixler syndrome 10.2 FGFR3 FGFR2 FGFR1
28 beare-stevenson cutis gyrata syndrome 10.2 FGFR3 FGFR2
29 bone development disease 10.2 FGFR3 FGFR2 FGFR1
30 anodontia 10.2
31 dwarfism 10.2
32 saethre-chotzen syndrome 10.2 FGFR3 FGFR2 FGFR1
33 ischemia 10.1
34 pfeiffer syndrome 10.1 FGFR3 FGFR2 FGFR1
35 osteochondroma 10.1 FGFR3 FGFR1
36 tracheal calcification 10.1 KL FGF23
37 ankylosis 10.1 FGFR2 FGFR1 ENPP1
38 chromosome 2q35 duplication syndrome 10.1 FGFR3 FGFR2 FGFR1
39 8p11 myeloproliferative syndrome 10.1 FGFR1 FGF1
40 pheochromocytoma 10.1
41 adrenal gland pheochromocytoma 10.1
42 cerebrovascular disease 10.1
43 b-cell lymphoma 10.1
44 hypoxia 10.1
45 angioid streaks 10.1 GALNT3 ENPP1
46 hypophosphatasia 10.1 PHEX FGF23 ENPP1
47 dysostosis 10.1 FGFR3 FGFR2 FGFR1
48 fibrous dysplasia 10.1
49 fanconi syndrome 10.1 SLC34A3 PHEX FGF23
50 craniosynostosis 1 10.0

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



Diseases related to Osteoglophonic Dysplasia

Symptoms & Phenotypes for Osteoglophonic Dysplasia

Human phenotypes related to Osteoglophonic Dysplasia:

58 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 abnormal form of the vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003312
3 reduced number of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009804
4 craniosynostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001363
5 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
6 multiple unerupted teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0006283
7 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
8 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
9 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
10 failure to thrive in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0001531
11 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
12 rhizomelia 58 31 frequent (33%) Frequent (79-30%) HP:0008905
13 abnormal clavicle morphology 31 frequent (33%) HP:0000889
14 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
15 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
16 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
17 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
18 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
19 choanal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000453
20 abnormal bone ossification 58 31 occasional (7.5%) Occasional (29-5%) HP:0011849
21 failure to thrive 31 HP:0001508
22 frontal bossing 31 HP:0002007
23 high palate 31 HP:0000218
24 short neck 31 HP:0000470
25 depressed nasal bridge 31 HP:0005280
26 bowing of the long bones 31 HP:0006487
27 mandibular prognathia 31 HP:0000303
28 delayed speech and language development 31 HP:0000750
29 short nose 31 HP:0003196
30 low-set ears 31 HP:0000369
31 hypoplastic toenails 31 HP:0001800
32 downslanted palpebral fissures 31 HP:0000494
33 long philtrum 31 HP:0000343
34 platyspondyly 31 HP:0000926
35 malar flattening 31 HP:0000272
36 hypospadias 31 HP:0000047
37 abnormality of the clavicle 58 Frequent (79-30%)
38 midface retrusion 31 HP:0011800
39 short metacarpal 31 HP:0010049
40 short foot 31 HP:0001773
41 cloverleaf skull 31 HP:0002676
42 broad foot 31 HP:0001769
43 broad palm 31 HP:0001169
44 short palm 31 HP:0004279
45 hypoplastic scapulae 31 HP:0000882
46 respiratory distress 31 HP:0002098
47 increased susceptibility to fractures 31 HP:0002659
48 limb undergrowth 31 HP:0009826
49 short phalanx of finger 31 HP:0009803
50 short metatarsal 31 HP:0010743

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Head And Neck Neck:
short neck

Genitourinary External Genitalia Male:
inguinal hernia
hypospadias
chordee

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Nails:
hypoplastic toenails

Skeletal Skull:
craniosynostosis
shallow orbits
kleeblattschaedel deformity

Respiratory Nasopharynx:
nasal obstruction

Skeletal Hands:
short, broad hands
short, broad metacarpals
short, broad phalanges

Skeletal Limbs:
fractures
short, bowed limbs
irregular areas of radiolucency in metaphyses
pseudoarthroses

Growth Height:
rhizomelic dwarfism

Chest Ribs Sternum Clavicles And Scapulae:
small scapulae
progressive rib expansion

Head And Neck Face:
frontal bossing
long philtrum
midface hypoplasia
prognathism

Head And Neck Nose:
depressed nasal bridge
short nose
anteverted nares

Head And Neck Eyes:
hypertelorism
proptosis
downslanting palpebral fissures

Head And Neck Ears:
low-set ears

Skeletal Spine:
platyspondyly

Respiratory:
respiratory distress

Head And Neck Mouth:
high-arched palate

Neurologic Central Nervous System:
speech delay

Skeletal Feet:
short, broad feet
short, broad metatarsals

Head And Neck Teeth:
unerupted teeth

Skin Nails Hair Skin:
pretibial dimples

Clinical features from OMIM®:

166250 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Osteoglophonic Dysplasia:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 DMP1 ENPP1 FAM20C FGF13 FGFR1 FGFR2
2 growth/size/body region MP:0005378 10.22 DMP1 ENPP1 FAM20C FGF23 FGFR1 FGFR2
3 homeostasis/metabolism MP:0005376 10.18 DMP1 ENPP1 FAM20C FGF1 FGF23 FGFR1
4 hematopoietic system MP:0005397 10.17 DMP1 FAM20C FGF1 FGF23 FGFR1 FGFR2
5 craniofacial MP:0005382 10.16 DMP1 ENPP1 FAM20C FGFR1 FGFR2 FGFR3
6 digestive/alimentary MP:0005381 10.15 FAM20C FGF23 FGFR1 FGFR2 FGFR3 GALNT3
7 immune system MP:0005387 10.11 DMP1 ENPP1 FAM20C FGF23 FGFR1 FGFR2
8 hearing/vestibular/ear MP:0005377 10 ENPP1 FAM20C FGFR1 FGFR2 FGFR3 KL
9 limbs/digits/tail MP:0005371 9.96 DMP1 ENPP1 FAM20C FGF23 FGFR1 FGFR2
10 integument MP:0010771 9.87 ENPP1 FGF23 FGFR1 FGFR2 FGFR3 GALNT3
11 nervous system MP:0003631 9.81 ENPP1 FAM20C FGF1 FGF13 FGFR1 FGFR2
12 renal/urinary system MP:0005367 9.7 DMP1 ENPP1 FAM20C FGF23 FGFR1 FGFR2
13 skeleton MP:0005390 9.4 DMP1 ENPP1 FAM20C FGF23 FGFR1 FGFR2

Drugs & Therapeutics for Osteoglophonic Dysplasia

Search Clinical Trials , NIH Clinical Center for Osteoglophonic Dysplasia

Cochrane evidence based reviews: osteoglophonic dwarfism

Genetic Tests for Osteoglophonic Dysplasia

Genetic tests related to Osteoglophonic Dysplasia:

# Genetic test Affiliating Genes
1 Osteoglophonic Dysplasia 29 FGFR1

Anatomical Context for Osteoglophonic Dysplasia

MalaCards organs/tissues related to Osteoglophonic Dysplasia:

40
Tongue, Bone

Publications for Osteoglophonic Dysplasia

Articles related to Osteoglophonic Dysplasia:

(show all 23)
# Title Authors PMID Year
1
Extended mutational analyses of FGFR1 in osteoglophonic dysplasia. 6 57 61
16470795 2006
2
Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. 6 57 61
15625620 2005
3
Osteoglophonic dwarfism. 61 57 6
7422392 1980
4
FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. 6 57
12952917 2003
5
Osteoglophonic dysplasia. 61 57
2325100 1990
6
Osteoglophonic dysplasia. 61 57
2810341 1989
7
Osteoglophonic dysplasia: a new case. 57 61
3409933 1988
8
Osteoglophonic dwarfism in two generations. 61 57
6606709 1983
9
Craniofacial dysotosis with fibrous metaphyseal deffects. 57
1137039 1975
10
Pseudohypophosphatasia. 57
4309618 1969
11
Up-regulation of fibroblast growth factor receptor 1 due to prenatal tobacco exposure can lead to developmental defects in new born. 61
30428736 2020
12
Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions. 61
31319224 2020
13
Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome. 61
31512363 2019
14
Osteoglophonic Dysplasia: Phenotypic and Radiological Clues. 61
29147600 2017
15
Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations. 61
29019756 2017
16
Adult-Onset Idiopathic Hypertrophic Pyloric Stenosis Associated With Osteoglophonic Dysplasia and HIV: Case Report and Review of Literature. 61
27599310 2017
17
Osteoglophonic dysplasia: A 'common' mutation in a rare disease. 61
20236123 2010
18
Osteoglophonic dysplasia: a case report. 61
20339250 2010
19
Osteoglophonic dysplasia: dental and orthodontic implications. 61
16918680 2006
20
Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report. 61
12868472 2003
21
[Osteoglophonic dysplasia]. 61
11528815 2001
22
Osteoglophonic dysplasia: appearance and progression of multiple nonossifying fibromata. 61
8995175 1997
23
Osteoglophonic dysplasia: review and further delineation of the syndrome. 61
8958322 1996

Variations for Osteoglophonic Dysplasia

ClinVar genetic disease variations for Osteoglophonic Dysplasia:

6 (show top 50) (show all 147)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGFR1 NM_015850.4(FGFR1):c.983A>T (p.Asn328Ile) SNV Pathogenic 16286 rs121909632 GRCh37: 8:38279407-38279407
GRCh38: 8:38421889-38421889
2 FGFR1 NM_015850.4(FGFR1):c.1115A>G (p.Tyr372Cys) SNV Pathogenic 16287 rs121909631 GRCh37: 8:38277214-38277214
GRCh38: 8:38419696-38419696
3 FGFR1 C379R SNV Pathogenic 16288 GRCh37:
GRCh38:
4 FGFR1 NM_015850.4(FGFR1):c.1135T>C (p.Cys379Arg) SNV Pathogenic 16290 rs121909634 GRCh37: 8:38277194-38277194
GRCh38: 8:38419676-38419676
5 FGFR1 NM_023110.3(FGFR1):c.1469G>T (p.Gly490Val) SNV Likely pathogenic 802399 rs1586172462 GRCh37: 8:38275471-38275471
GRCh38: 8:38417953-38417953
6 FGFR1 NM_023110.2(FGFR1):c.917C>T (p.Pro306Leu) SNV Likely pathogenic 635817 rs1586287963 GRCh37: 8:38282046-38282046
GRCh38: 8:38424528-38424528
7 FGFR1 NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu) SNV Likely pathogenic 16299 rs121909641 GRCh37: 8:38277238-38277238
GRCh38: 8:38419720-38419720
8 FGFR1 NM_015850.4(FGFR1):c.2459G>A (p.Arg820His) SNV Uncertain significance 362891 rs758677681 GRCh37: 8:38271150-38271150
GRCh38: 8:38413632-38413632
9 FGFR1 NM_023110.3(FGFR1):c.861C>T (p.Ile287=) SNV Uncertain significance 912101 GRCh37: 8:38282102-38282102
GRCh38: 8:38424584-38424584
10 FGFR1 NM_023110.2(FGFR1):c.899T>C (p.Ile300Thr) SNV Uncertain significance 16289 rs121909633 GRCh37: 8:38282064-38282064
GRCh38: 8:38424546-38424546
11 FGFR1 NM_023110.2(FGFR1):c.91+6G>T SNV Uncertain significance 362910 rs886062921 GRCh37: 8:38314868-38314868
GRCh38: 8:38457350-38457350
12 FGFR1 NM_023110.3(FGFR1):c.*391C>T SNV Uncertain significance 908881 GRCh37: 8:38270755-38270755
GRCh38: 8:38413237-38413237
13 FGFR1 NM_023110.3(FGFR1):c.*203G>A SNV Uncertain significance 908949 GRCh37: 8:38270943-38270943
GRCh38: 8:38413425-38413425
14 FGFR1 NM_023110.3(FGFR1):c.2187-14C>T SNV Uncertain significance 909923 GRCh37: 8:38271555-38271555
GRCh38: 8:38414037-38414037
15 FGFR1 NM_023110.3(FGFR1):c.1869C>T (p.Asp623=) SNV Uncertain significance 698394 rs780009859 GRCh37: 8:38272405-38272405
GRCh38: 8:38414887-38414887
16 FGFR1 NM_023110.3(FGFR1):c.1713G>A (p.Glu571=) SNV Uncertain significance 910825 GRCh37: 8:38273529-38273529
GRCh38: 8:38416011-38416011
17 FGFR1 NM_023110.3(FGFR1):c.1264C>G (p.Pro422Ala) SNV Uncertain significance 910877 GRCh37: 8:38277071-38277071
GRCh38: 8:38419553-38419553
18 FGFR1 NM_023110.3(FGFR1):c.-117C>G SNV Uncertain significance 911063 GRCh37: 8:38325527-38325527
GRCh38: 8:38468009-38468009
19 FGFR1 NM_023110.3(FGFR1):c.2451C>T (p.Gly817=) SNV Uncertain significance 909011 GRCh37: 8:38271164-38271164
GRCh38: 8:38413646-38413646
20 FGFR1 NM_023110.3(FGFR1):c.-444C>T SNV Uncertain significance 909210 GRCh37: 8:38325854-38325854
GRCh38: 8:38468336-38468336
21 FGFR1 NM_023110.3(FGFR1):c.-466C>T SNV Uncertain significance 909211 GRCh37: 8:38325876-38325876
GRCh38: 8:38468358-38468358
22 FGFR1 NM_023110.3(FGFR1):c.-717C>T SNV Uncertain significance 909277 GRCh37: 8:38326127-38326127
GRCh38: 8:38468609-38468609
23 FGFR1 NM_023110.3(FGFR1):c.-741A>G SNV Uncertain significance 909278 GRCh37: 8:38326151-38326151
GRCh38: 8:38468633-38468633
24 FGFR1 NM_023110.3(FGFR1):c.*2445A>G SNV Uncertain significance 908500 GRCh37: 8:38268701-38268701
GRCh38: 8:38411183-38411183
25 FGFR1 NM_023110.3(FGFR1):c.*2408C>T SNV Uncertain significance 909349 GRCh37: 8:38268738-38268738
GRCh38: 8:38411220-38411220
26 FGFR1 NM_023110.3(FGFR1):c.*1823G>A SNV Uncertain significance 909426 GRCh37: 8:38269323-38269323
GRCh38: 8:38411805-38411805
27 FGFR1 NM_023110.3(FGFR1):c.*1149G>A SNV Uncertain significance 909558 GRCh37: 8:38269997-38269997
GRCh38: 8:38412479-38412479
28 FGFR1 NM_023110.3(FGFR1):c.*991G>A SNV Uncertain significance 909616 GRCh37: 8:38270155-38270155
GRCh38: 8:38412637-38412637
29 FGFR1 NM_023110.3(FGFR1):c.*819T>G SNV Uncertain significance 909678 GRCh37: 8:38270327-38270327
GRCh38: 8:38412809-38412809
30 FGFR1 NM_023110.3(FGFR1):c.*802C>T SNV Uncertain significance 909679 GRCh37: 8:38270344-38270344
GRCh38: 8:38412826-38412826
31 FGFR1 NM_023110.3(FGFR1):c.*345T>A SNV Uncertain significance 908882 GRCh37: 8:38270801-38270801
GRCh38: 8:38413283-38413283
32 FGFR1 NM_023110.3(FGFR1):c.-278C>A SNV Uncertain significance 910248 GRCh37: 8:38325688-38325688
GRCh38: 8:38468170-38468170
33 FGFR1 NM_023110.3(FGFR1):c.*1446A>C SNV Uncertain significance 910427 GRCh37: 8:38269700-38269700
GRCh38: 8:38412182-38412182
34 FGFR1 NM_023110.3(FGFR1):c.*1124C>G SNV Uncertain significance 910485 GRCh37: 8:38270022-38270022
GRCh38: 8:38412504-38412504
35 FGFR1 NM_023110.3(FGFR1):c.*1086A>T SNV Uncertain significance 910486 GRCh37: 8:38270060-38270060
GRCh38: 8:38412542-38412542
36 FGFR1 NM_023110.3(FGFR1):c.*957C>T SNV Uncertain significance 910547 GRCh37: 8:38270189-38270189
GRCh38: 8:38412671-38412671
37 FGFR1 NM_023110.3(FGFR1):c.*262C>T SNV Uncertain significance 910659 GRCh37: 8:38270884-38270884
GRCh38: 8:38413366-38413366
38 FGFR1 NM_023110.3(FGFR1):c.*112C>T SNV Uncertain significance 909809 GRCh37: 8:38271034-38271034
GRCh38: 8:38413516-38413516
39 FGFR1 NM_023110.3(FGFR1):c.-116C>T SNV Uncertain significance 911062 GRCh37: 8:38325526-38325526
GRCh38: 8:38468008-38468008
40 FGFR1 NM_023110.3(FGFR1):c.-320C>T SNV Uncertain significance 911139 GRCh37: 8:38325730-38325730
GRCh38: 8:38468212-38468212
41 FGFR1 NM_023110.3(FGFR1):c.-522G>T SNV Uncertain significance 911211 GRCh37: 8:38325932-38325932
GRCh38: 8:38468414-38468414
42 FGFR1 NM_023110.3(FGFR1):c.-552C>G SNV Uncertain significance 911212 GRCh37: 8:38325962-38325962
GRCh38: 8:38468444-38468444
43 FGFR1 NM_001354367.1(FGFR1):c.-747C>G SNV Uncertain significance 911274 GRCh37: 8:38326157-38326157
GRCh38: 8:38468639-38468639
44 FGFR1 NM_023110.3(FGFR1):c.-555G>A SNV Uncertain significance 911406 GRCh37: 8:38325965-38325965
GRCh38: 8:38468447-38468447
45 FGFR1 NM_023110.3(FGFR1):c.-578A>C SNV Uncertain significance 908431 GRCh37: 8:38325988-38325988
GRCh38: 8:38468470-38468470
46 FGFR1 NM_001354367.1(FGFR1):c.-755C>G SNV Uncertain significance 908501 GRCh37: 8:38326165-38326165
GRCh38: 8:38468647-38468647
47 FGFR1 NM_023110.3(FGFR1):c.*1723C>T SNV Uncertain significance 911588 GRCh37: 8:38269423-38269423
GRCh38: 8:38411905-38411905
48 FGFR1 NM_023110.3(FGFR1):c.*1711G>A SNV Uncertain significance 908638 GRCh37: 8:38269435-38269435
GRCh38: 8:38411917-38411917
49 FGFR1 NM_023110.3(FGFR1):c.*1055C>T SNV Uncertain significance 911717 GRCh37: 8:38270091-38270091
GRCh38: 8:38412573-38412573
50 FGFR1 NM_023110.3(FGFR1):c.*928G>A SNV Uncertain significance 911789 GRCh37: 8:38270218-38270218
GRCh38: 8:38412700-38412700

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

72
# 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

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 44)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 MEPE FGFR3 FGFR2 FGFR1 FGF23 FGF13
2
Show member pathways
13.38 KL FGFR3 FGFR2 FGFR1 FGF23 FGF1
3
Show member pathways
13.34 KL FGFR3 FGFR2 FGFR1 FGF23 FGF1
4
Show member pathways
13.3 FGFR3 FGFR2 FGFR1 FGF23 FGF13 FGF1
5
Show member pathways
13.26 KL FGFR3 FGFR2 FGFR1 FGF23 FGF1
6
Show member pathways
13.23 FGFR3 FGFR2 FGFR1 FGF23 FGF13 FGF1
7
Show member pathways
13.2 FGFR3 FGFR2 FGFR1 FGF23 FGF13 FGF1
8
Show member pathways
13.18 FGFR3 FGFR2 FGFR1 FGF23 FGF13 FGF1
9
Show member pathways
13.04 KL FGFR3 FGFR2 FGFR1 FGF23 FGF1
10
Show member pathways
13 MEPE FGFR3 FGFR2 FGFR1 FGF23 FGF13
11
Show member pathways
12.97 FGFR3 FGFR2 FGFR1 FGF23 FGF13 FGF1
12
Show member pathways
12.9 FGFR3 FGFR2 FGFR1 FGF23 FGF1
13
Show member pathways
12.81 KL FGFR3 FGFR2 FGFR1 FGF23 FGF1
14 12.77 FGFR3 FGFR2 FGFR1 FGF23 FGF1
15 12.7 FGFR3 FGFR2 FGFR1 FGF23 FGF1
16
Show member pathways
12.67 FGFR3 FGFR2 FGFR1 FGF23 FGF1
17
Show member pathways
12.66 FGFR2 FGFR1 FGF23 FGF1
18
Show member pathways
12.66 KL FGFR3 FGFR2 FGFR1 FGF23 FGF1
19
Show member pathways
12.63 FGFR3 FGFR2 FGFR1 FGF23 FGF13 FGF1
20
Show member pathways
12.58 FGFR2 FGFR1 FGF23 FGF1
21 12.56 FGFR3 FGFR2 FGFR1 FGF23 FGF13 FGF1
22 12.35 FGFR3 FGFR2 FGFR1 FGF23 FGF1
23
Show member pathways
12.34 FGFR3 FGFR2 FGFR1 FGF23 FGF13 FGF1
24
Show member pathways
12.18 FGFR3 FGFR2 FGFR1 FGF23 FGF13 FGF1
25
Show member pathways
12.16 FGFR3 FGFR2 FGFR1 FGF23 FGF13 FGF1
26
Show member pathways
12.13 KL FGFR3 FGFR2 FGFR1 FGF23 FGF1
27
Show member pathways
12.09 FGFR3 FGFR2 FGFR1 FGF23 FGF1
28 12.08 FGFR3 FGFR2 FGFR1 FGF1
29
Show member pathways
12.04 FGFR3 FGFR2 FGFR1 FGF23 FGF13 FGF1
30 12.01 FGFR3 FGFR2 FGFR1
31
Show member pathways
12.01 KL GALNT3 FGFR3 FGFR2 FGFR1 FGF23
32 11.92 SLC34A3 KL FGFR1 FGF23
33 11.85 FGFR3 FGFR2 FGFR1
34 11.83 FGFR3 FGFR2 FGFR1 FGF1
35
Show member pathways
11.79 FGFR1 FGF23 FGF1
36 11.67 FGFR3 FGFR2 FGFR1
37 11.63 FGFR3 FGFR1 ENPP1
38 11.6 FGFR3 FGFR2 FGFR1 FGF23 FGF13 FGF1
39
Show member pathways
11.59 GALNT3 FGFR3 FGF23 FGF1
40
Show member pathways
11.46 KL GALNT3 FGFR3 FGFR2 FGFR1 FGF23
41 11.45 FGFR3 FGFR2 FGFR1
42 11.43 FGFR2 FGFR1 FGF23 FGF1
43 11.34 FGFR3 FGFR2 FGFR1 FGF1
44 10.82 MEPE FGFR3 FGFR2 FGFR1 FGF23 FGF13

GO Terms for Osteoglophonic Dysplasia

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

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.63 PHEX KL FGFR3 FGFR2 FGFR1 ENPP1
2 extracellular region GO:0005576 9.36 MEPE KL FGFR3 FGFR2 FGFR1 FGF23
3 endoplasmic reticulum lumen GO:0005788 9.26 MEPE FGF23 FAM20C DMP1

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.92 FGFR3 FGFR2 FGFR1 FGF23 FGF1
2 post-translational protein modification GO:0043687 9.88 MEPE FGF23 FAM20C DMP1
3 protein autophosphorylation GO:0046777 9.81 FGFR3 FGFR2 FGFR1
4 cell-cell signaling GO:0007267 9.81 PHEX FGFR3 FGFR2 FGF13
5 animal organ morphogenesis GO:0009887 9.8 FGFR2 FGF23 FGF1
6 cellular protein metabolic process GO:0044267 9.8 MEPE FGF23 FAM20C DMP1
7 peptidyl-tyrosine phosphorylation GO:0018108 9.79 FGFR3 FGFR2 FGFR1
8 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.78 FGFR3 FGFR2 FGFR1
9 positive regulation of MAPK cascade GO:0043410 9.77 FGFR3 FGFR2 FGFR1
10 lung development GO:0030324 9.74 PHEX FGFR2 FGF1
11 positive regulation of protein kinase B signaling GO:0051897 9.73 KL FGFR3 FGFR2 FGFR1 FGF23 FGF1
12 positive regulation of kinase activity GO:0033674 9.71 FGFR3 FGFR2 FGFR1
13 skeletal system development GO:0001501 9.71 PHEX MEPE FGFR3 FGFR1
14 MAPK cascade GO:0000165 9.7 KL FGFR3 FGFR2 FGFR1 FGF23 FGF13
15 bone mineralization GO:0030282 9.63 PHEX FGFR3 FGFR2
16 regulation of bone mineralization GO:0030500 9.62 FGF23 ENPP1
17 phosphate-containing compound metabolic process GO:0006796 9.62 FGF23 ENPP1
18 negative regulation of bone mineralization GO:0030502 9.6 FGF23 ENPP1
19 cellular response to vitamin D GO:0071305 9.58 PHEX FGF23
20 cellular response to parathyroid hormone stimulus GO:0071374 9.56 PHEX FGF23
21 endochondral bone growth GO:0003416 9.55 FGFR3 FGFR2
22 cellular phosphate ion homeostasis GO:0030643 9.54 SLC34A3 FGF23 ENPP1
23 positive regulation of phospholipase activity GO:0010518 9.5 FGFR3 FGFR2 FGFR1
24 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.48 KL FGF23
25 response to sodium phosphate GO:1904383 9.43 PHEX FGF23
26 biomineral tissue development GO:0031214 9.35 PHEX MEPE FAM20C ENPP1 DMP1
27 fibroblast growth factor receptor signaling pathway GO:0008543 9.17 KL GALNT3 FGFR3 FGFR2 FGFR1 FGF23

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.58 FGFR2 FGFR1 FGF1
2 growth factor activity GO:0008083 9.54 FGF23 FGF13 FGF1
3 protein tyrosine kinase activity GO:0004713 9.5 FGFR3 FGFR2 FGFR1
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 FGFR3 FGFR2 FGFR1
5 fibroblast growth factor receptor binding GO:0005104 9.33 KL FGF23 FGF1
6 fibroblast growth factor-activated receptor activity GO:0005007 9.13 FGFR3 FGFR2 FGFR1
7 fibroblast growth factor binding GO:0017134 8.92 KL FGFR3 FGFR2 FGFR1

Sources for Osteoglophonic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....