Osteogenesis Imperfecta, Type Iii disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

OI3 MCID: OST122 MIFTS: 57	Osteogenesis Imperfecta, Type Iii (OI3) Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Osteogenesis Imperfecta, Type Iii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Iii:

Name: Osteogenesis Imperfecta, Type Iii ⁵⁷ ³⁹

Osteogenesis Imperfecta Type Iii ¹² ²⁰ ⁷³ ²⁹ ⁶ ⁷¹

Osteogenesis Imperfecta Type 3 ¹² ⁵⁸ ¹⁵

Oi, Type Iii ⁵⁷ ⁷³ ⁵⁴

Oi3 ⁵⁷ ¹² ⁷³

Progressive Deforming Osteogenesis Imperfecta ²⁰ ⁵⁸

Severe Osteogenesis Imperfecta ²⁰ ⁵⁸

Oi Type Iii ²⁰ ¹³

Oi Type 3 ²⁰ ⁵⁸

Osteogenesis Imperfecta, Progressively Deforming, with Normal Sclerae ⁵⁷

Osteogenesis Imperfecta, Progressively Deforming with Normal Sclerae ²⁰

Progressively Deforming Osteogenesis Imperfecta with Normal Sclerae ⁷³

Progressively Deforming Osteogenesis Imperfecta with Normal Sclera ¹²

Progressively Deforming Oi ²⁰

Osteogenesis Imperfecta 3 ⁷³

Oi-Iii ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

osteogenesis imperfecta type 3
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Sweden); Age of onset: Infancy,Neonatal;

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal dominant

Miscellaneous:
some mutations have been found in homozygosity and the phenotype is more severe than that of the heterozygous parents

HPO:

³¹

osteogenesis imperfecta, type iii:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Bone diseases Oral diseases Ear diseases Neuronal diseases Respiratory diseases

See all MalaCards categories (disease lists)

ICD10: ³² ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other osteochondrodysplasias

Osteogenesis imperfecta

Orphanet: ⁵⁸

Rare eye diseases

Rare bone diseases

Developmental anomalies during embryogenesis

Rare odontological diseases

External Ids:

Disease Ontology ¹² DOID:0110339

OMIM® ⁵⁷ 259420

OMIM Phenotypic Series ⁵⁷ PS166200

MeSH ⁴⁴ D010013

ICD10 ³² Q78.0

MESH via Orphanet ⁴⁵ C536044

ICD10 via Orphanet ³³ Q78.0

UMLS via Orphanet ⁷² C0268362

Orphanet ⁵⁸ ORPHA216812

MedGen ⁴¹ C0268362

UMLS ⁷¹ C0268362

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Summaries for Osteogenesis Imperfecta, Type Iii

GARD : ²⁰ Osteogenesis imperfecta type III (OI type III) is a form of osteogenesis imperfecta, a group of genetic conditions that primarily affect the bones. In OI type III, specifically, a diagnosis can often be made shortly after birth as fractures (broken bones) during the newborn period simply from handling the infant are common. Other signs and symptoms vary significantly from person to person but may include severe bone fragility, bone malformations, short stature, dental problems (dentinogenesis imperfect), macrocephaly (unusually large head), hearing loss, and blue sclerae (whites of the eyes). Most affected people are unable to walk without assistance. OI type III is caused by changes (mutations) in the COL1A1 or COL1A2 genes and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Osteogenesis Imperfecta, Type Iii, also known as osteogenesis imperfecta type iii, is related to osteogenesis imperfecta, type vi and osteogenesis imperfecta, type v. An important gene associated with Osteogenesis Imperfecta, Type Iii is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. The drugs Zoledronic Acid and Hormones have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and liver, and related phenotypes are frontal bossing and scoliosis

Disease Ontology : ¹² An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has material basis in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.

UniProtKB/Swiss-Prot : ⁷³ Osteogenesis imperfecta 3: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI3 is characterized by progressively deforming bones, very short stature, a triangular face, severe scoliosis, grayish sclera and dentinogenesis imperfecta.

More information from OMIM: 259420 PS166200

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Related Diseases for Osteogenesis Imperfecta, Type Iii

Diseases in the Osteogenesis Imperfecta, Type Iii family:

Osteogenesis Imperfecta, Type I	Osteogenesis Imperfecta, Type Ii
Osteogenesis Imperfecta, Type Iv	Osteogenesis Imperfecta, Type Ix
Osteogenesis Imperfecta, Type Xix	Osteogenesis Imperfecta, Type Vii
Osteogenesis Imperfecta, Type Viii	Osteogenesis Imperfecta, Type V
Osteogenesis Imperfecta, Type Xi	Osteogenesis Imperfecta, Type X
Osteogenesis Imperfecta, Type Xii	Osteogenesis Imperfecta, Type Vi
Osteogenesis Imperfecta, Type Xiii	Osteogenesis Imperfecta, Type Xiv
Osteogenesis Imperfecta, Type Xv	Osteogenesis Imperfecta, Type Xvi
Osteogenesis Imperfecta, Type Xvii	Osteogenesis Imperfecta, Type Xviii
Osteogenesis Imperfecta, Type Xx	Osteogenesis Imperfecta, Type Xxi

Diseases related to Osteogenesis Imperfecta, Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)

#	Related Disease	Score	Top Affiliating Genes
1	osteogenesis imperfecta, type vi	32.4	SERPINF1 COL1A1
2	osteogenesis imperfecta, type v	32.3	COL1A2 COL1A1 CD36
3	osteogenesis imperfecta, type iv	31.6	WNT1 SERPINF1 PPIB P3H1 FKBP10 CRTAP
4	col1a1/2 osteogenesis imperfecta	31.0	COL1A2 COL1A1
5	osteogenesis imperfecta, type viii	30.9	P3H1 CRTAP
6	bone resorption disease	30.7	COL1A2 COL1A1 BGLAP
7	ehlers-danlos syndrome	30.6	COL5A2 COL1A2 COL1A1 CD36
8	osteogenesis imperfecta, type i	30.5	CRTAP COL1A2 COL1A1 CD36 BGLAP
9	osteogenesis imperfecta, type ix	30.5	PPIB COL1A2 COL1A1
10	hypermobile ehlers-danlos syndrome	30.5	COL5A2 COL1A1
11	brittle bone disorder	30.2	WNT1 SLC34A1 SERPINH1 SERPINF1 PPIB P3H1
12	osteogenesis imperfecta, type ii	30.1	PPIB P3H1 FKBP10 CRTAP COL5A2 COL1A2
13	dentinogenesis imperfecta	29.6	WNT1 SERPINH1 SERPINF1 PPIB P3H1 FKBP10
14	osteogenesis imperfecta, type xiii	11.2
15	osteogenesis imperfecta, type xiv	11.2
16	osteogenesis imperfecta, type xv	11.2
17	ehlers-danlos/osteogenesis imperfecta syndrome	10.5	COL1A2 COL1A1
18	arthrochalasia ehlers-danlos syndrome	10.4	COL1A2 COL1A1
19	ehlers-danlos syndrome, arthrochalasia type, 2	10.4	COL1A2 COL1A1
20	scleroderma, familial progressive	10.4	COL1A2 COL1A1 CD36
21	high bone mass osteogenesis imperfecta	10.4	COL1A2 COL1A1 BMP1
22	keloid disorder	10.4	SERPINH1 CD36
23	larsen-like syndrome	10.4	COL5A2 COL1A2 COL1A1
24	classic ehlers-danlos syndrome	10.4	COL5A2 COL1A2 COL1A1
25	caffey disease	10.4	COL1A2 COL1A1 CD36
26	ehlers-danlos syndrome, classic type, 2	10.4	COL5A2 CD36
27	ehlers-danlos syndrome, classic type, 1	10.4	COL5A2 COL1A2 COL1A1
28	pelvic organ prolapse	10.4	COL1A2 COL1A1 CD36
29	myositis ossificans	10.4	COL1A1 BMP1 BGLAP
30	syndromic x-linked intellectual disability cabezas type	10.4	COL1A2 COL1A1
31	collagen disease	10.3	COL5A2 COL1A2 COL1A1
32	spinal stenosis	10.3	COL1A2 COL1A1 COL11A1
33	diffuse scleroderma	10.3	COL1A2 COL1A1
34	fibromatosis, gingival, 1	10.3	SERPINH1 CD36
35	van buchem disease	10.3	WNT1 COL1A1 BGLAP
36	bone structure disease	10.3	COL1A2 COL1A1 BGLAP
37	ehlers-danlos syndrome, cardiac valvular type	10.3	COL1A2 COL1A1
38	hyperostosis	10.3	COL1A2 COL1A1 BMP1
39	otosclerosis	10.3	SERPINF1 COL1A2 COL1A1 CD36
40	endosteal hyperostosis, autosomal dominant	10.3	CRTAP COL1A2 COL1A1
41	bone remodeling disease	10.3	COL1A2 COL1A1 BGLAP
42	fibrogenesis imperfecta ossium	10.3	P3H1 CRTAP COL1A2 COL1A1
43	platyspondylic lethal skeletal dysplasia, torrance type	10.3	SERPINH1 CREB3L1
44	beta-thalassemia major	10.3	COL1A1 BGLAP
45	marfan syndrome	10.3	COL5A2 COL1A2 COL1A1 CD36
46	stickler syndrome	10.3	COL5A2 COL1A2 COL1A1 COL11A1
47	phenylketonuria	10.3	COL1A2 COL1A1 BGLAP
48	boomerang dysplasia	10.3	P3H1 CRTAP
49	rickets	10.2	SLC34A1 CD36 BGLAP
50	scoliosis	10.2

Graphical network of the top 20 diseases related to Osteogenesis Imperfecta, Type Iii:

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Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Iii

Human phenotypes related to Osteogenesis Imperfecta, Type Iii:

³¹ (show all 24)

#	Description	HPO Source Accession
1	frontal bossing ³¹	HP:0002007
2	scoliosis ³¹	HP:0002650
3	kyphosis ³¹	HP:0002808
4	hearing impairment ³¹	HP:0000365
5	micrognathia ³¹	HP:0000347
6	slender long bone ³¹	HP:0003100
7	protrusio acetabuli ³¹	HP:0003179
8	recurrent fractures ³¹	HP:0002757
9	platybasia ³¹	HP:0002691
10	pulmonary arterial hypertension ³¹	HP:0002092
11	wormian bones ³¹	HP:0002645
12	blue sclerae ³¹	HP:0000592
13	neonatal short-limb short stature ³¹	HP:0008921
14	triangular face ³¹	HP:0000325
15	wide anterior fontanel ³¹	HP:0000260
16	decreased calvarial ossification ³¹	HP:0005474
17	dentinogenesis imperfecta ³¹	HP:0000703
18	thin ribs ³¹	HP:0000883
19	biconcave vertebral bodies ³¹	HP:0004586
20	tibial bowing ³¹	HP:0002982
21	basilar impression ³¹	HP:0005758
22	multiple prenatal fractures ³¹	HP:0005855
23	bowing of limbs due to multiple fractures ³¹	HP:0003023
24	severe generalized osteoporosis ³¹	HP:0005897

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Head And Neck Face:
frontal bossing
micrognathia
triangular face

Skeletal Pelvis:
protrusio acetabuli

Skeletal Limbs:
tibial bowing
bowing of limbs due to multiple fractures
long bone deformity evident at birth or in the first 2 years of life
thin gracile long bones
short deformed femurs
more

Respiratory Lung:
pulmonary hypertension

Growth Height:
short limb dwarfism recognizable at birth
adult height 92-108 cm

Head And Neck Teeth:
dentinogenesis imperfecta (both primary and secondary teeth)

Skeletal:
severe, generalized osteoporosis
multiple fractures present at birth

Skeletal Spine:
scoliosis
kyphosis
codfish vertebrae

Skeletal Skull:
wormian bones
large anterior fontanelle
undermineralized calvarium

Neurologic Central Nervous System:
basilar impression

Head And Neck Ears:
hearing loss

Head And Neck Eyes:
blue sclerae at birth becoming normal with age

Chest Ribs Sternum Clavicles And Scapulae:
thin gracile ribs

Clinical features from OMIM®:

259420 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Iii:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.2	BMP1 CD36 COL11A1 COL1A1 COL1A2 COL5A2
2	cardiovascular system	MP:0005385	10.14	BMP1 CD36 COL1A1 COL1A2 COL5A2 FKBP10
3	adipose tissue	MP:0005375	10.03	BGLAP BMP1 CD36 COL1A1 COL1A2 CREB3L1
4	mortality/aging	MP:0010768	9.97	BMP1 CD36 COL11A1 COL1A1 COL1A2 COL5A2
5	craniofacial	MP:0005382	9.91	BMP1 COL11A1 COL1A1 FKBP10 PPIB SERPINH1
6	limbs/digits/tail	MP:0005371	9.91	BMP1 COL11A1 COL1A1 COL1A2 FKBP10 P3H1
7	skeleton	MP:0005390	9.58	BGLAP BMP1 CD36 COL11A1 COL1A1 COL1A2
8	muscle	MP:0005369	9.56	BMP1 CD36 COL1A1 COL1A2 P3H1 PCOLCE

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Drugs & Therapeutics for Osteogenesis Imperfecta, Type Iii

Drugs for Osteogenesis Imperfecta, Type Iii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Zoledronic Acid

Approved

Phase 3

118072-93-8

68740

Synonyms:

(1-Hydroxy-2-(1H-imidazol-1-yl)ethylidene)bisphosphonate

(1-hydroxy-2-(1H-imidazol-1-yl)ethylidene)bisphosphonic acid

(1-Hydroxy-2-(1H-imidazol-1-yl)ethylidene)bisphosphonic acid

(1-hydroxy-2-imidazol-1-yl-1-phosphonoethyl)phosphonic acid

(1-Hydroxy-2-imidazol-1-ylethylidene)diphosphonate

(1-hydroxy-2-imidazol-1-ylethylidene)diphosphonic acid

(1-Hydroxy-2-imidazol-1-ylethylidene)diphosphonic acid

(1-hydroxy-2-imidazol-1-yl-phosphonoethyl)phosphonic acid monohydrate

[1-hydroxy-2-(1H-imidazol-1-yl)ethane-1,1-diyl]bis(phosphonic acid)

118072-93-8

2-(imidazol-1-yl)-1-hydroxyethane-1,1-diphosphonic acid

2-(imidazol-1-yl)-1-hydroxyethylidene-1,1-bisphosphonic acid

2-(Imidazol-1-yl)-1-hydroxyethylidene-1,1-bisphosphonic acid

AC-1092

AC1L2ACJ

AC1Q6RN3

ácido zoledrónico

Aclasta

AKOS005145739

Anhydrous Zoledronic Acid

BIDD:GT0292

BIDD:PXR0134

Bio-0112

Bisphosphonate 3

C088658

CGP 42446

CGP 42'446

CGP 42446A

CGP-42446

CGP-42'446

CHEBI:46557

CHEMBL924

CID68740

D08689

DB00399

FT-0082657

HMS2089O09

I06-0710

KS-1132

LS-181815

MolPort-002-885-874

MolPort-003-850-890

NCGC00159521-02

NCGC00159521-03

Novartis brand of zoledronic acid

Novartis brand OF zoledronic acid

NSC721517

Reclast

Reclast (TN)

S00092

S1314_Selleck

UNII-70HZ18PH24

Zol

ZOL

Zoledronate

Zoledronic acid

Zoledronic acid (INN)

Zoledronic acid [USAN:INN]

Zoledronic acid anhydrous

Zoledronic Acid Anhydrous

Zoledronic Acid, Anhydrous

Zometa

Zometa (Novartis)

Zometa (TN)

Zometa Concentrate

Zometa, Zomera, Aclasta and Reclast, Zoledronic Acid

Hormones

Phase 3

Diphosphonates

Phase 2

Liver Extracts

Phase 1, Phase 2

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Studies of Growth Deficiency and Growth Hormone Treatment in Children With Osteogenesis Imperfecta Types III and IV	Completed	NCT00001305	Phase 3	Humatrope
2	An International, Multicenter, Open-label, Efficacy and Safety Trial of Intravenous Zoledronic Acid in Infants Less Than One Year of Age, With Severe Osteogenesis Imperfecta	Completed	NCT00982124	Phase 3	Zoledronic Acid
3	Efficacy and Safety of Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta	Completed	NCT00131118	Phase 2	Zoledronic Acid
4	Exploratory, Open Label, Multiple Dose, Phase I/II Trial Evaluating Safety, Efficacy of Intravenous and Intraosseous Infusion of Allogeneic Fetal Mesenchymal Stem In Treatment of Severe Osteogenesis Imperfecta Compared With Historical and Untreated Prospective Controls	Recruiting	NCT04623606	Phase 1, Phase 2
5	An Exploratory, Open Label, Multiple Dose, Multicentre Phase I/II Trial Evaluating Safety and Efficacy of Postnatal or Prenatal and Postnatal Intravenous Administration of Allogeneic Expanded Fetal Mesenchymal Stem Cells for the Treatment of Severe Osteogenesis Imperfecta Compared With a Combination of Historical and Untreated Prospective Controls	Recruiting	NCT03706482	Phase 1, Phase 2
6	Multicenter Study to Evaluate Safety of Fresolimumab in Adults With Moderate-to-severe Osteogenesis Imperfecta	Recruiting	NCT03064074	Phase 1	Fresolimumab

Search NIH Clinical Center for Osteogenesis Imperfecta, Type Iii

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Genetic Tests for Osteogenesis Imperfecta, Type Iii

Genetic tests related to Osteogenesis Imperfecta, Type Iii:

#	Genetic test	Affiliating Genes
1	Osteogenesis Imperfecta Type Iii ²⁹	COL1A1 COL1A2

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Anatomical Context for Osteogenesis Imperfecta, Type Iii

MalaCards organs/tissues related to Osteogenesis Imperfecta, Type Iii:

⁴⁰

Eye, Bone, Liver, Skin, Colon

Sources

Publications for Osteogenesis Imperfecta, Type Iii

Articles related to Osteogenesis Imperfecta, Type Iii:

(show top 50) (show all 107)

#	Title	Authors	PMID	Year
1	Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. ⁶¹ ⁵⁷ ⁵⁴ ⁶	Faqeih E...Rauch F	19208385	2009
2	A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. ⁶¹ ⁵⁴ ⁶ ⁵⁷	Molyneux K...Dalgleish R	8444468	1993
3	Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen. ⁶¹ ⁵⁷ ⁶	Cole WG...Lam TP	8728690	1996
4	On the paradoxically high relative prevalence of osteogenesis imperfecta type III in the black population of South Africa. ⁵⁷ ⁶ ⁶¹	Beighton P...Versfeld GA	3995789	1985
5	High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta. ⁵⁷ ⁶	Cabral WA...Marini JC	15024692	2004
6	G76E substitution in type I collagen is the first nonlethal glutamic acid substitution in the alpha1(I) chain and alters folding of the N-terminal end of the helix. ⁶ ⁵⁷	Cabral WA...Marini JC	11286507	2001
7	Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. ⁵⁷ ⁶	Pruchno CJ...Byers PH	2037280	1991
8	Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype. ⁶ ⁵⁷	Starman BJ...Byers PH	2794057	1989
9	A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. ⁶¹ ⁵⁴ ⁶	Lu J...Cole WG	7749416	1995
10	A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals. ⁶¹ ⁵⁴ ⁶	Rose NJ...Dalgleish R	8081394	1994
11	Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation. ⁶ ⁵⁴	Nuytinck L...De Paepe A	10807697	2000
12	Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding. ⁶ ⁵⁴	Oliver JE...Nicholls AC	8723681	1996
13	Recurrence of osteogenesis imperfecta because of paternal mosaicism: Gly862-->Ser substitution in a type I collagen gene (COL1A1). ⁶ ⁵⁴	Namikawa C...Hata A	7789952	1995
14	Osteogenesis imperfecta type III: an ancient mutation in Africa? ⁶¹ ⁵⁷	Viljoen D...Beighton P	3425600	1987
15	Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity. ⁶¹ ⁵⁷	Sillence DO...Rimoin DL	3953678	1986
16	Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta. ⁵⁷	Bellur S...Nagamani SC	26426884	2016
17	Genetic evaluation of suspected osteogenesis imperfecta (OI). ⁵⁷	Byers PH...American college of medical genetics	16778601	2006
18	Pamidronate in children and adolescents with osteogenesis imperfecta: effect of treatment discontinuation. ⁵⁷	Rauch F...Glorieux FH	16434452	2006
19	Gene targeting in stem cells from individuals with osteogenesis imperfecta. ⁵⁷	Chamberlain JR...Russell DW	14976317	2004
20	Height and weight development during four years of therapy with cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta types I, III, and IV. ⁵⁷	Zeitlin L...Glorieux FH	12728084	2003
21	Osteogenesis imperfecta types I, III, and IV: effect of pamidronate therapy on bone and mineral metabolism. ⁵⁷	Rauch F...Glorieux FH	12629073	2003
22	Modeling the benefits of pamidronate in children with osteogenesis imperfecta. ⁵⁷	Lindsay R	12417561	2002
23	The effects of intravenous pamidronate on the bone tissue of children and adolescents with osteogenesis imperfecta. ⁵⁷	Rauch F...Glorieux FH	12417568	2002
24	Beneficial effect of long term intravenous bisphosphonate treatment of osteogenesis imperfecta. ⁵⁷	Astrom E...Soderhall S	11970931	2002
25	Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age. ⁵⁷	Plotkin H...Glorieux FH	10843163	2000
26	Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes. ⁵⁷	De Paepe A...Fryns JP	9099837	1997
27	(G586V) substitutions in the alpha 1 and alpha 2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta? ⁶	Lund AM...Schwartz M	9143923	1997
28	Alternative splicing in COL1A1 mRNA leads to a partial null allele and two In-frame forms with structural defects in non-lethal osteogenesis imperfecta. ⁶	Wang Q...Marini JC	8910493	1996
29	Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes. ⁶	Nuytinck L...De Paepe A	8786074	1996
30	Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation. ⁶	Zhuang J...Prockop DJ	8669434	1996
31	Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix. ⁶	Forlino A...Mottes M	7881420	1994
32	Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen. ⁶	Marini JC...Chen K	8456809	1993
33	Dominant mutations in familial lethal and severe osteogenesis imperfecta. ⁵⁷	Cohen-Solal L...Maroteaux P	1864604	1991
34	Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method. ⁶	Bateman JF...Cole WG	2064612	1991
35	Substitution of serine for alpha 1(I)-glycine 844 in a severe variant of osteogenesis imperfecta minimally destabilizes the triple helix of type I procollagen. The effects of glycine substitutions on thermal stability are either position of amino acid specific. ⁶	Pack M...Prockop DJ	2511192	1989
36	Type I procollagen in the severe non-lethal form of osteogenesis imperfecta. Defective pro-alpha 1(I) chains in a patient with abnormal proteoglycan metabolism and mineral deposits in the dermis. ⁵⁷	Tenni R...Castellani AA	3402997	1988
37	Organization of the human pro-alpha 2(I) collagen gene. ⁶	de Wet W...Ramirez F	2824475	1987
38	Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I. ⁶	Wallis G...Mathew CG	3023615	1986
39	Collagen genes and proteins in osteogenesis imperfecta. ⁵⁷	Pope FM...Owen R	3001313	1985
40	Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation. ⁶	Pihlajaniemi T...Myers JC	6092353	1984
41	The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta. ⁵⁷	Nicholls AC...Pope FM	6492090	1984
42	A defect in the structure of type I procollagen in a patient who had osteogenesis imperfecta: excess mannose in the COOH-terminal propeptide. ⁵⁷	Peltonen L...Prockop DJ	6934545	1980
43	Biochemical heterogeneity of osteogenesis imperfecta: New variant. ⁵⁷	Nicholls AC...Schloon H	86915	1979
44	Genetic heterogeneity in osteogenesis imperfecta. ⁵⁷	Sillence DO...Danks DM	458828	1979
45	Gly511 to Ser substitution in the COL1A1 gene in osteogenesis imperfecta type III patient with increased turnover of collagen. ⁶¹ ⁵⁴	Galicka A...Palka J	12870654	2003
46	Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV. ⁵⁴ ⁶¹	Lund AM...Skovby F	9240878	1997
47	Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the alpha 2 (I) chain of type I collagen. ⁵⁴ ⁶¹	Cole WG...Bateman JF	8950681	1996
48	Type I collagen biosynthesis by skin fibroblasts from patients with idiopathic juvenile osteoporosis. ⁶¹ ⁵⁴	Pocock AE...Smith R	7671570	1995
49	A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III. ⁵⁴ ⁶¹	Rose NJ...Dalgleish R	7860070	1995
50	Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III. ⁶¹ ⁵⁴	Mackay K...Dalgleish R	8019571	1994

Sources

Genes for Osteogenesis Imperfecta, Type Iii

Genes related to Osteogenesis Imperfecta, Type Iii (11 elite genes):

(show all 33)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	1712.03	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications Variants (show sections)	6092353 8100856 19208385 (more) 9240878 11359465
2	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	1711.72	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications Variants (show sections)	2794057 8100856 9240878 (more) 19283684 7789952 12870654 15815702
3	FKBP10	FKBP Prolyl Isomerase 10	Protein Coding	390.27	Causative germline mutation ⁵⁸ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
4	P3H1	Prolyl 3-Hydroxylase 1	Protein Coding	387.57	Causative germline mutation ⁵⁸ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
5	SERPINF1	Serpin Family F Member 1	Protein Coding	386.39	Causative germline mutation ⁵⁸ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
6	BMP1	Bone Morphogenetic Protein 1	Protein Coding	362.51	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
7	WNT1	Wnt Family Member 1	Protein Coding	361.47	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
8	CRTAP	Cartilage Associated Protein	Protein Coding	355.8	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
9	PPIB	Peptidylprolyl Isomerase B	Protein Coding	354.21	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
10	SERPINH1	Serpin Family H Member 1	Protein Coding	354.01	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
11	CREB3L1	CAMP Responsive Element Binding Protein 3 Like 1	Protein Coding	350	Causative germline mutation ⁵⁸
12	SLC34A1	Solute Carrier Family 34 Member 1	Protein Coding	32.45	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
13	CD36	CD36 Molecule	Protein Coding	17.88	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	9240878 8100856 7860070 (more) 2286029 7671570 8081394 10807697 8950681 8444468 7749416 8019571 8723681
14	BGLAP	Bone Gamma-Carboxyglutamate Protein	Protein Coding	12.12	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
15	COL5A2	Collagen Type V Alpha 2 Chain	Protein Coding	11.05	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
16	COL11A1	Collagen Type XI Alpha 1 Chain	Protein Coding	7.45	GeneCards inferred via : Variants (show sections)
17	KCTD1	Potassium Channel Tetramerization Domain Containing 1	Protein Coding	6.17	DISEASES inferred ¹⁵
18	RTTN	Rotatin	Protein Coding	6.15	DISEASES inferred ¹⁵
19	CCDC126	Coiled-Coil Domain Containing 126	Protein Coding	5.74	DISEASES inferred ¹⁵
20	PCOLCE	Procollagen C-Endopeptidase Enhancer	Protein Coding	5.61	DISEASES inferred ¹⁵
21	ADAMTS2	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 2	Protein Coding	5.49	DISEASES inferred ¹⁵
22	WDR20	WD Repeat Domain 20	Protein Coding	5.46	DISEASES inferred ¹⁵
23	DYNC2H1	Dynein Cytoplasmic 2 Heavy Chain 1	Protein Coding	5.4	DISEASES inferred ¹⁵
24	PLOD2	Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 2	Protein Coding	5.36	DISEASES inferred ¹⁵
25	FAM20C	FAM20C Golgi Associated Secretory Pathway Kinase	Protein Coding	5.28	DISEASES inferred ¹⁵
26	KANSL3	KAT8 Regulatory NSL Complex Subunit 3	Protein Coding	5.23	DISEASES inferred ¹⁵
27	ENAM	Enamelin	Protein Coding	5.21	DISEASES inferred ¹⁵
28	PIEZO1	Piezo Type Mechanosensitive Ion Channel Component 1	Protein Coding	5.2	DISEASES inferred ¹⁵
29	TMEM67	Transmembrane Protein 67	Protein Coding	5.18	DISEASES inferred ¹⁵
30	MCAM	Melanoma Cell Adhesion Molecule	Protein Coding	5.09	DISEASES inferred ¹⁵
31	MTMR12	Myotubularin Related Protein 12	Protein Coding	5.07	DISEASES inferred ¹⁵
32	CD37	CD37 Molecule	Protein Coding	5	DISEASES inferred ¹⁵
33	HMSD	Histocompatibility Minor Serpin Domain Containing	Protein Coding	5	DISEASES inferred ¹⁵

Sources

Variations for Osteogenesis Imperfecta, Type Iii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Iii:

⁶ (show top 50) (show all 85)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	COL1A2	NM_000089.3(COL1A2):c.4001_4004del	Deletion	Pathogenic	17236	rs72659345	7:94059603-94059606	7:94430291-94430294
2	COL1A2	NM_000089.3(COL1A2):c.775G>T (p.Gly259Cys)	SNV	Pathogenic	17247	rs121912905	7:94038118-94038118	7:94408806-94408806
3	COL1A2	NM_000089.3(COL1A2):c.1757G>T (p.Gly586Val)	SNV	Pathogenic	17253	rs121912907	7:94044575-94044575	7:94415263-94415263
4	COL1A2	COL1A2, VAL255DEL	Deletion	Pathogenic	17259
5	COL1A2	NM_000089.3(COL1A2):c.2575G>A (p.Gly859Ser)	SNV	Pathogenic	17261	rs72658200	7:94053657-94053657	7:94424345-94424345
6	COL1A2	NM_000089.3(COL1A2):c.3017G>C (p.Gly1006Ala)	SNV	Pathogenic	17265	rs121912911	7:94055754-94055754	7:94426442-94426442
7	COL1A2	NM_000089.3(COL1A2):c.2251G>A (p.Gly751Ser)	SNV	Pathogenic	17267	rs72658176	7:94049916-94049916	7:94420604-94420604
8	COL1A2	NM_000089.3(COL1A2):c.1099G>T (p.Gly367Trp)	SNV	Pathogenic	17272	rs72656402	7:94039741-94039741	7:94410429-94410429
9	COL1A2	NM_000089.3(COL1A2):c.3269G>A (p.Gly1090Asp)	SNV	Pathogenic	17282	rs267606742	7:94056940-94056940	7:94427628-94427628
10	COL1A2	NM_000089.3(COL1A2):c.3295G>A (p.Gly1099Arg)	SNV	Pathogenic	17283	rs72659338	7:94056966-94056966	7:94427654-94427654
11	COL1A1	NM_000088.3(COL1A1):c.2110G>T (p.Gly704Cys)	SNV	Pathogenic	17288	rs67368147	17:48269166-48269166	17:50191805-50191805
12	COL1A1	NM_000088.3(COL1A1):c.3064G>A (p.Gly1022Ser)	SNV	Pathogenic	17296	rs66523073	17:48266138-48266138	17:50188777-50188777
13	COL1A1	COL1A1, EX22DEL	Deletion	Pathogenic	17303
14	COL1A1	NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg)	SNV	Pathogenic	17312	rs72645357	17:48273524-48273524	17:50196163-50196163
15	COL1A1	NM_000088.3(COL1A1):c.1588G>A (p.Gly530Ser)	SNV	Pathogenic	17324	rs67682641	17:48271736-48271736	17:50194375-50194375
16	COL1A1	NM_000088.3(COL1A1):c.2515G>A (p.Gly839Ser)	SNV	Pathogenic	17331	rs72653131	17:48267406-48267406	17:50190045-50190045
17	COL1A1	NM_000088.4(COL1A1):c.2341_2451+60del	Deletion	Pathogenic	17336		17:48267628-48268180	17:50190267-50190819
18	COL1A1	NM_000088.3(COL1A1):c.761G>A (p.Gly254Glu)	SNV	Pathogenic	17349	rs72645320	17:48274414-48274414	17:50197053-50197053
19	COL1A2	NM_000089.3(COL1A2):c.2918G>T (p.Gly973Val)	SNV	Pathogenic	425654	rs67609234	7:94055144-94055144	7:94425832-94425832
20	COL1A2	NM_000089.3(COL1A2):c.3089G>C (p.Gly1030Ala)	SNV	Pathogenic	425656	rs1114167415	7:94055826-94055826	7:94426514-94426514
21	COL1A1	NM_000088.3(COL1A1):c.2155G>A (p.Gly719Ser)	SNV	Pathogenic	425606	rs72651645	17:48268824-48268824	17:50191463-50191463
22	COL1A2	NM_000089.3(COL1A2):c.992G>A (p.Gly331Asp)	SNV	Pathogenic	425664	rs67729041	7:94039090-94039090	7:94409778-94409778
23	COL1A2	NM_000089.3(COL1A2):c.3008G>A (p.Gly1003Asp)	SNV	Pathogenic	425655	rs1114167414	7:94055745-94055745	7:94426433-94426433
24	COL1A1	NM_000088.3(COL1A1):c.2075G>C (p.Gly692Ala)	SNV	Pathogenic	425604	rs1114167388	17:48269201-48269201	17:50191840-50191840
25	COL1A1	NM_000088.3(COL1A1):c.65_70del (p.Gly22_Gln23del)	Deletion	Pathogenic	425636	rs1114167409	17:48278805-48278810	17:50201444-50201449
26	COL1A1	NM_000088.3(COL1A1):c.2596G>A (p.Gly866Ser)	SNV	Pathogenic	425612	rs67445413	17:48267237-48267237	17:50189876-50189876
27	COL1A1	NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser)	SNV	Pathogenic	447141	rs67879854	17:48267939-48267939	17:50190578-50190578
28	COL1A1	NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter)	SNV	Pathogenic	287320	rs72651642	17:48269187-48269187	17:50191826-50191826
29	COL1A1	NM_000088.3(COL1A1):c.1821+1G>A	SNV	Pathogenic	425580	rs66555264	17:48270354-48270354	17:50192993-50192993
30	COL1A1	NM_000088.3(COL1A1):c.1299+1G>A	SNV	Pathogenic	425599	rs66490707	17:48272592-48272592	17:50195231-50195231
31	COL1A1	NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter)	SNV	Pathogenic	425597	rs72648326	17:48272649-48272649	17:50195288-50195288
32	COL1A1	NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg)	SNV	Pathogenic	17312	rs72645357	17:48273524-48273524	17:50196163-50196163
33	COL1A2	NM_000089.3(COL1A2):c.1937G>T (p.Gly646Val)	SNV	Pathogenic	425650	rs72658150	7:94047109-94047109	7:94417797-94417797
34	COL1A1	NM_000088.3(COL1A1):c.2235+1G>A	SNV	Pathogenic	425607	rs1114167390	17:48268743-48268743	17:50191382-50191382
35	COL1A2	LRG_2t1:c.(?_-471)_(738+1_739-1)del	Deletion	Pathogenic	425665
36	COL1A2	NM_000089.3(COL1A2):c.1162G>C (p.Gly388Arg)	SNV	Pathogenic	425644	rs1114167412	7:94039804-94039804	7:94410492-94410492
37	COL1A1	NM_000088.3(COL1A1):c.3443G>A (p.Gly1148Asp)	SNV	Pathogenic	431028	rs1131692320	17:48264464-48264464	17:50187103-50187103
38	COL1A1	NM_000088.3(COL1A1):c.3226G>A (p.Gly1076Ser)	SNV	Pathogenic	425618	rs67394386	17:48265492-48265492	17:50188131-50188131
39	COL1A2	NM_000089.3(COL1A2):c.982G>A (p.Gly328Ser)	SNV	Pathogenic	456848	rs66612022	7:94039080-94039080	7:94409768-94409768
40	COL1A2	NM_000089.3(COL1A2):c.1127G>T (p.Gly376Val)	SNV	Pathogenic	579070	rs67543427	7:94039769-94039769	7:94410457-94410457
41	COL1A2	NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser)	SNV	Pathogenic	216908	rs72659319	7:94055771-94055771	7:94426459-94426459
42	COL1A1	NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys)	SNV	Pathogenic	17347	rs72653170	17:48266269-48266269	17:50188908-50188908
43	COL1A1	NM_000088.4(COL1A1):c.459del (p.Gly154fs)	Deletion	Pathogenic	982088		17:48276599-48276599	17:50199238-50199238
44	COL1A1	NM_000088.3(COL1A1):c.3118G>A (p.Gly1040Ser)	SNV	Pathogenic	17330	rs72653178	17:48265980-48265980	17:50188619-50188619
45	COL1A1	NM_000088.3(COL1A1):c.4391T>C (p.Leu1464Pro)	SNV	Pathogenic	17332	rs72656353	17:48262867-48262867	17:50185506-50185506
46	COL1A2	NM_000089.3(COL1A2):c.1009G>A (p.Gly337Ser)	SNV	Pathogenic	425643	rs67865220	7:94039107-94039107	7:94409795-94409795
47	COL1A2	NM_000089.3(COL1A2):c.1009G>A (p.Gly337Ser)	SNV	Pathogenic	425643	rs67865220	7:94039107-94039107	7:94409795-94409795
48	COL1A2	NM_000089.3(COL1A2):c.1342G>C (p.Gly448Arg)	SNV	Likely pathogenic	644457	rs1584320605	7:94040458-94040458	7:94411146-94411146
49	COL1A2	NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser)	SNV	Likely pathogenic	216908	rs72659319	7:94055771-94055771	7:94426459-94426459
50	COL1A2	NM_000089.3(COL1A2):c.2957C>T (p.Pro986Leu)	SNV	Likely pathogenic	216909	rs768171831	7:94055323-94055323	7:94426011-94426011

UniProtKB/Swiss-Prot genetic disease variations for Osteogenesis Imperfecta, Type Iii:

⁷³ (show all 41)

#	Symbol	AA change	Variation ID	SNP ID
1	COL1A1	p.Gly332Arg	VAR_001650	rs72645357
2	COL1A1	p.Gly350Arg	VAR_001651	rs72645363
3	COL1A1	p.Gly530Ser	VAR_001666	rs67682641
4	COL1A1	p.Gly593Cys	VAR_001673	rs66527965
5	COL1A1	p.Gly593Ser	VAR_001674	rs66527965
6	COL1A1	p.Gly704Cys	VAR_001678	rs67368147
7	COL1A1	p.Gly719Ser	VAR_001680	rs72651645
8	COL1A1	p.Gly767Ser	VAR_001686	rs72651658
9	COL1A1	p.Gly821Ser	VAR_001690	rs67693970
10	COL1A1	p.Gly884Ser	VAR_001697	rs156775560
11	COL1A1	p.Gly1022Ser	VAR_001702	rs66523073
12	COL1A1	p.Gly1040Ser	VAR_001705	rs72653178
13	COL1A1	p.Gly1049Ser	VAR_001708	rs67641695
14	COL1A1	p.Gly1058Ser	VAR_001709	rs72654795
15	COL1A1	p.Gly1076Ser	VAR_001713	rs67394386
16	COL1A1	p.Gly1151Ser	VAR_001722	rs72656320
17	COL1A1	p.Gly1187Ser	VAR_001729	rs72656332
18	COL1A1	p.Leu1464Pro	VAR_001737	rs72656353
19	COL1A1	p.Gly866Ser	VAR_008118	rs67445413
20	COL1A1	p.Gly203Val	VAR_063295	rs72667031
21	COL1A2	p.Gly337Cys	VAR_001857	rs67865220
22	COL1A2	p.Gly337Ser	VAR_001858	rs67865220
23	COL1A2	p.Gly349Cys	VAR_001860	rs66773001
24	COL1A2	p.Gly460Ser	VAR_001863	rs72658118
25	COL1A2	p.Gly517Arg	VAR_001865	rs72658126
26	COL1A2	p.Gly676Val	VAR_001875	rs66883877
27	COL1A2	p.Gly778Ser	VAR_001884	rs72658186
28	COL1A2	p.Gly892Asp	VAR_001892	rs72659304
29	COL1A2	p.Gly949Ser	VAR_001894	rs72659312
30	COL1A2	p.Gly1012Ser	VAR_001897	rs72659319
31	COL1A2	p.Gly1096Ala	VAR_001901	rs72659337
32	COL1A2	p.Thr1148Pro	VAR_001904	rs1800250
33	COL1A2	p.Gly331Asp	VAR_008119	rs67729041
34	COL1A2	p.Gly973Val	VAR_008120	rs67609234
35	COL1A2	p.Gly358Ser	VAR_063352	rs66619856
36	COL1A2	p.Gly676Asp	VAR_063361	rs66883877
37	COL1A2	p.Gly820Ser	VAR_063370	rs72658191
38	COL1A2	p.Gly835Cys	VAR_063371
39	COL1A2	p.Gly856Arg	VAR_063372
40	COL1A2	p.Gly991Val	VAR_063377	rs72659316
41	COL1A2	p.Gly1087Asp	VAR_063381	rs72659335

Sources

Expression for Osteogenesis Imperfecta, Type Iii

Search GEO for disease gene expression data for Osteogenesis Imperfecta, Type Iii.

Sources

Pathways for Osteogenesis Imperfecta, Type Iii

Pathways related to Osteogenesis Imperfecta, Type Iii according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Collagen chain trimerization ⁶⁵ Show member pathways Anchoring fibril formation ⁶⁵ Assembly of collagen fibrils and other multimeric structures ⁶⁵ Blood Coagulation Cascade ⁶³ Collagen biosynthesis and modifying enzymes ⁶⁵ Collagen formation ⁶⁵ Crosslinking of collagen fibrils ⁶⁵ Intrinsic Prothrombin Activation Pathway ⁶³ Protein digestion and absorption ³⁶	12.39	SERPINH1 PPIB PCOLCE P3H1 CRTAP COL5A2
2	Degradation of the extracellular matrix ⁶⁵ Show member pathways Collagen degradation ⁶⁵ Extracellular matrix organization ⁶⁵	11.98	SERPINH1 PPIB PCOLCE P3H1 CRTAP COL5A2
3	Parathyroid hormone synthesis, secretion and action ³⁶	11.63	SLC34A1 CREB3L1 BGLAP
4	Binding and Uptake of Ligands by Scavenger Receptors ⁶⁵ Show member pathways Scavenging by Class A Receptors ⁶⁵ Scavenging by Class B Receptors ⁶⁵ Scavenging by Class F Receptors ⁶⁵ Scavenging by Class H Receptors ⁶⁵ Scavenging of heme from plasma ⁶⁵	11.6	COL1A2 COL1A1 CD36
5	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics ⁶⁰	11.14	COL1A2 COL1A1 CD36
6	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²³	10.92	COL1A2 COL1A1 BGLAP
7	VEGFR3 signaling in lymphatic endothelium ¹	10.82	COL1A2 COL1A1
8	G-protein signaling_Rap2B regulation pathway ²³	10.62	COL5A2 COL1A2 COL1A1 COL11A1 BMP1
9	Osteoblast Signaling ¹	10.51	COL1A1 BGLAP

Sources

GO Terms for Osteogenesis Imperfecta, Type Iii

Cellular components related to Osteogenesis Imperfecta, Type Iii according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular region	GO:0005576	10.1	WNT1 SERPINF1 PCOLCE P3H1 CRTAP COL5A2
2	extracellular space	GO:0005615	10.03	WNT1 SERPINH1 SERPINF1 PCOLCE CRTAP COL5A2
3	endoplasmic reticulum	GO:0005783	10.01	SERPINH1 PPIB P3H1 FKBP10 CRTAP CREB3L1
4	collagen-containing extracellular matrix	GO:0062023	9.76	SERPINH1 SERPINF1 PCOLCE P3H1 COL5A2 COL1A2
5	extracellular matrix	GO:0031012	9.73	COL5A2 COL1A2 COL1A1 COL11A1
6	collagen trimer	GO:0005581	9.43	SERPINH1 COL5A2 COL1A2 COL1A1 COL11A1 CD36
7	collagen type I trimer	GO:0005584	9.37	COL1A2 COL1A1
8	endoplasmic reticulum lumen	GO:0005788	9.36	WNT1 SERPINH1 PPIB P3H1 FKBP10 CRTAP

Biological processes related to Osteogenesis Imperfecta, Type Iii according to GeneCards Suite gene sharing:

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix organization	GO:0030198	9.81	COL5A2 COL1A2 COL1A1 COL11A1
2	osteoblast differentiation	GO:0001649	9.71	CREB3L1 COL1A1 BGLAP
3	cellular response to amino acid stimulus	GO:0071230	9.58	COL5A2 COL1A2 COL1A1
4	cartilage condensation	GO:0001502	9.56	COL11A1 BMP1
5	bone development	GO:0060348	9.56	WNT1 PPIB P3H1 BGLAP
6	negative regulation of cell-substrate adhesion	GO:0010812	9.55	WNT1 COL1A1
7	skeletal system development	GO:0001501	9.55	COL5A2 COL1A2 COL1A1 BMP1 BGLAP
8	chaperone-mediated protein folding	GO:0061077	9.54	PPIB P3H1 CRTAP
9	collagen metabolic process	GO:0032963	9.52	P3H1 COL1A2
10	extracellular matrix assembly	GO:0085029	9.49	FKBP10 COL1A2
11	skin morphogenesis	GO:0043589	9.48	COL1A2 COL1A1
12	collagen biosynthetic process	GO:0032964	9.46	SERPINH1 COL1A1
13	response to peptide	GO:1901652	9.43	SLC34A1 SERPINF1
14	ossification	GO:0001503	9.43	SLC34A1 COL5A2 COL1A1 COL11A1 BMP1 BGLAP
15	negative regulation of post-translational protein modification	GO:1901874	9.32	P3H1 CRTAP
16	collagen fibril organization	GO:0030199	9.17	SERPINH1 FKBP10 CRTAP COL5A2 COL1A2 COL1A1

Molecular functions related to Osteogenesis Imperfecta, Type Iii according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix structural constituent	GO:0005201	9.55	PCOLCE COL5A2 COL1A2 COL1A1 COL11A1
2	SMAD binding	GO:0046332	9.43	CREB3L1 COL5A2 COL1A2
3	platelet-derived growth factor binding	GO:0048407	9.32	COL1A2 COL1A1
4	extracellular matrix structural constituent conferring tensile strength	GO:0030020	9.26	COL5A2 COL1A2 COL1A1 COL11A1
5	collagen binding	GO:0005518	9.02	SERPINH1 PPIB PCOLCE P3H1 CRTAP

Sources

Sources for Osteogenesis Imperfecta, Type Iii

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Osteogenesis Imperfecta, Type Iii (OI3)

Aliases & Classifications for Osteogenesis Imperfecta, Type Iii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Iii:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Osteogenesis Imperfecta, Type Iii

Related Diseases for Osteogenesis Imperfecta, Type Iii

Diseases in the Osteogenesis Imperfecta, Type Iii family:

Diseases related to Osteogenesis Imperfecta, Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Osteogenesis Imperfecta, Type Iii:

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Iii

Human phenotypes related to Osteogenesis Imperfecta, Type Iii:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Iii:

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Iii

Drugs for Osteogenesis Imperfecta, Type Iii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Osteogenesis Imperfecta, Type Iii

Genetic tests related to Osteogenesis Imperfecta, Type Iii:

Anatomical Context for Osteogenesis Imperfecta, Type Iii

MalaCards organs/tissues related to Osteogenesis Imperfecta, Type Iii:

Publications for Osteogenesis Imperfecta, Type Iii

Articles related to Osteogenesis Imperfecta, Type Iii:

Genes for Osteogenesis Imperfecta, Type Iii

Genes related to Osteogenesis Imperfecta, Type Iii (11 elite genes):

Variations for Osteogenesis Imperfecta, Type Iii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Iii:

UniProtKB/Swiss-Prot genetic disease variations for Osteogenesis Imperfecta, Type Iii:

Expression for Osteogenesis Imperfecta, Type Iii

Pathways for Osteogenesis Imperfecta, Type Iii

Pathways related to Osteogenesis Imperfecta, Type Iii according to GeneCards Suite gene sharing:

GO Terms for Osteogenesis Imperfecta, Type Iii

Cellular components related to Osteogenesis Imperfecta, Type Iii according to GeneCards Suite gene sharing:

Biological processes related to Osteogenesis Imperfecta, Type Iii according to GeneCards Suite gene sharing:

Molecular functions related to Osteogenesis Imperfecta, Type Iii according to GeneCards Suite gene sharing:

Sources for Osteogenesis Imperfecta, Type Iii