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

OMIM®: ⁵⁷ Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Martinez-Glez et al. (2012) described osteogenesis imperfecta type XIII, an autosomal recessive form of the disorder characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, and an average of 10 to 15 fractures a year affecting both upper and lower limbs and with severe bone deformity. (614856) (Updated 24-Oct-2022)

MalaCards based summary: Osteogenesis Imperfecta, Type Xiii, also known as osteogenesis imperfecta type 13, is related to atypical teratoid rhabdoid tumor and low grade glioma. An important gene associated with Osteogenesis Imperfecta, Type Xiii is BMP1 (Bone Morphogenetic Protein 1). Affiliated tissues include bone and skeletal muscle, and related phenotypes are pectus carinatum and umbilical hernia

UniProtKB/Swiss-Prot: ⁷³ An autosomal recessive 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. OI13 is characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, severe bone deformity, and recurrent fractures affecting both upper and lower limbs.

Disease Ontology: ¹¹ An osteogenesis imperfecta that has material basis in mutation in the BMP1 gene on chromosome 8p21.

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Related Diseases for Osteogenesis Imperfecta, Type Xiii

Diseases in the Osteogenesis Imperfecta, Type I family:

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

#	Related Disease	Score	Top Affiliating Genes
1	atypical teratoid rhabdoid tumor	9.7	MIR124-1 CDKN2A
2	low grade glioma	9.7	MIR124-1 CDKN2A
3	central nervous system benign neoplasm	9.6	MIR124-1 CDKN2A
4	osteogenesis imperfecta, type xi	8.9	RPL21 PCAT2 NR1H4 MT-CO1 GNS DNAH9

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Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xiii

Human phenotypes related to Osteogenesis Imperfecta, Type Xiii:

³⁰ (show all 23)

#	Description	HPO Frequency	HPO Source Accession
1	pectus carinatum ³⁰	Occasional (7.5%)	HP:0000768
2	umbilical hernia ³⁰	Occasional (7.5%)	HP:0001537
3	short stature ³⁰	Occasional (7.5%)	HP:0004322
4	osteoporosis ³⁰	Occasional (7.5%)	HP:0000939
5	kyphoscoliosis ³⁰	Occasional (7.5%)	HP:0002751
6	arachnodactyly ³⁰	Occasional (7.5%)	HP:0001166
7	joint hypermobility ³⁰	Occasional (7.5%)	HP:0001382
8	long philtrum ³⁰	Occasional (7.5%)	HP:0000343
9	protruding ear ³⁰	Occasional (7.5%)	HP:0000411
10	broad forehead ³⁰	Occasional (7.5%)	HP:0000337
11	increased bone mineral density ³⁰	Occasional (7.5%)	HP:0011001
12	thin vermilion border ³⁰	Occasional (7.5%)	HP:0000233
13	wormian bones ³⁰	Occasional (7.5%)	HP:0002645
14	decreased body weight ³⁰	Occasional (7.5%)	HP:0004325
15	blue sclerae ³⁰	Occasional (7.5%)	HP:0000592
16	long eyelashes ³⁰	Occasional (7.5%)	HP:0000527
17	delayed gross motor development ³⁰	Occasional (7.5%)	HP:0002194
18	dislocated radial head ³⁰	Occasional (7.5%)	HP:0003083
19	generalized hypotonia ³⁰	Occasional (7.5%)	HP:0001290
20	long palpebral fissure ³⁰	Occasional (7.5%)	HP:0000637
21	skeletal muscle atrophy ³⁰		HP:0003202
22	platyspondyly ³⁰		HP:0000926
23	triangular face ³⁰		HP:0000325

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 24-Oct-2022)

Skeletal Spine:
kyphoscoliosis
platyspondyly
vertebral fractures
s-curve scoliosis of thoracic and lumbar spine

Skeletal Skull:
wormian bones

Neurologic Central Nervous System:
normal intelligence
delayed gross motor development (in some patients)

Cardiovascular:
normal

Skeletal Hands:
arachnodactyly (in some patients)

Head And Neck Head:
broad forehead (in some patients)

Skeletal Limbs:
radial head dislocation (rare)
bowing of upper extremity long bones
bowing of lower extremity long bones
limited movements of the knee joints
lack of bone modeling with wide distal metaphyses of femora
more

Head And Neck Ears:
prominent ears (in some patients)
no hearing impairment

Growth Weight:
low weight (in some patients)

Laboratory Abnormalities:
normal calcium level
normal phosphate level
normal to slightly high alkaline phosphatase
low procollagen 1 c-peptide (in some patients)
high deoxypyridinoline/creatinine (in some patients)

Skeletal:
joint hypermobility
increased bone density
decreased bone density
prenatal fractures
osteoporosis, borderline

Head And Neck Face:
triangular face

Muscle Soft Tissue:
muscle wasting
hypotonia (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum (in some patients)
deformed clavicles (in some patients)

Growth Height:
short stature (in some patients)

Head And Neck Mouth:
long philtrum (in some patients)
thin lips (in some patients)

Head And Neck Eyes:
long eyelashes (in some patients)
wide palpebral fissures (in some patients)
faint blue sclera (in some patients)

Abdomen External Features:
umbilical hernia (in some patients)

Head And Neck Teeth:
no dentinogenesis imperfecta

Chest External Features:
increased anteroposterior and transverse diameters of the thorax (in some patients)

Clinical features from OMIM®:

614856 (Updated 24-Oct-2022)

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Drugs & Therapeutics for Osteogenesis Imperfecta, Type Xiii

Search Clinical Trials, NIH Clinical Center for Osteogenesis Imperfecta, Type Xiii

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Genetic Tests for Osteogenesis Imperfecta, Type Xiii

Genetic tests related to Osteogenesis Imperfecta, Type Xiii:

#	Genetic test	Affiliating Genes
1	Osteogenesis Imperfecta Type 13 ²⁸	BMP1

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Anatomical Context for Osteogenesis Imperfecta, Type Xiii

Organs/tissues related to Osteogenesis Imperfecta, Type Xiii:

MalaCards : Bone, Skeletal Muscle

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Publications for Osteogenesis Imperfecta, Type Xiii

Articles related to Osteogenesis Imperfecta, Type Xiii:

#	Title	Authors	PMID	Year
1	Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta. ⁵⁷ ⁵	Cho SY...Jin DK	25402547	2015
2	A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children. ⁵⁷ ⁵	Fahiminiya S...Rauch F	25214535	2015
3	Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects. ⁵⁷ ⁵	Valencia M...Ostergaard E	24648371	2014
4	Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. ⁵⁷ ⁵	Asharani PV...Carney TJ	22482805	2012
5	Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. ⁵⁷ ⁵	Martinez-Glez V...Ruiz-Perez VL	22052668	2012
6	Three children with lower limb fractures and a mineralization defect: a novel bone fragility disorder? ⁵⁷ ⁵	Munns CF...Glorieux FH	15542026	2004
7	Genetic heterogeneity in osteogenesis imperfecta. ⁵⁷	Sillence DO...Danks DM	458828	1979
8	Novel homozygous variant in BMP1 associated with a rare osteogenesis imperfecta phenotype. ⁶²	Choksi IN...Carpenter TO	33624138	2021
9	Novel mutations in BMP1 induce a rare type of osteogenesis imperfecta. ⁶²	Xu XJ...Li M	30408480	2019
10	Skeletal dysplasias in a hospital in southern India. ⁶²	Kulkarni ML...Sureshkumar C	8613334	1995

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Genes for Osteogenesis Imperfecta, Type Xiii

Genes related to Osteogenesis Imperfecta, Type Xiii (1 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	BMP1	Bone Morphogenetic Protein 1	Protein Coding	1325	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵	15542026 22482805 24648371 (more) 25214535 25402547 22052668
2	DNAH9	Dynein Axonemal Heavy Chain 9	Protein Coding	6.8	DISEASES inferred ¹⁴
3	TAFA4	TAFA Chemokine Like Family Member 4	Protein Coding	5.7	DISEASES inferred ¹⁴
4	GNS	Glucosamine (N-Acetyl)-6-Sulfatase	Protein Coding	5.45	DISEASES inferred ¹⁴
5	RPL21	Ribosomal Protein L21	Protein Coding	5.43	DISEASES inferred ¹⁴
6	PCAT2	Prostate Cancer Associated Transcript 2	RNA Gene	4.89	DISEASES inferred ¹⁴
7	EPB41L3	Erythrocyte Membrane Protein Band 4.1 Like 3	Protein Coding	4.85	DISEASES inferred ¹⁴
8	MT-CO1	Mitochondrially Encoded Cytochrome C Oxidase I	Protein Coding	3.7	DISEASES inferred ¹⁴
9	MIR124-1	MicroRNA 124-1	RNA Gene	3.52	DISEASES inferred ¹⁴
10	NR1H4	Nuclear Receptor Subfamily 1 Group H Member 4	Protein Coding	3.52	DISEASES inferred ¹⁴
11	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	3.5	DISEASES inferred ¹⁴

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Variations for Osteogenesis Imperfecta, Type Xiii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xiii:

IMPROVED

⁵ (show top 50) (show all 94)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	BMP1	NM_006129.5(BMP1):c.34G>C (p.Gly12Arg)	SNV	Pathogenic	37307	rs318240762	GRCh37: 8:22022952-22022952 GRCh38: 8:22165439-22165439
2	BMP1	NM_006129.5(BMP1):c.2108-359T>C	SNV	Pathogenic	190231	rs786205217	GRCh37: 8:22058957-22058957 GRCh38: 8:22201444-22201444
3	BMP1	NM_006129.5(BMP1):c.2107G>C (p.Asp703His)	SNV	Pathogenic	190232	rs786205218	GRCh37: 8:22054933-22054933 GRCh38: 8:22197420-22197420
4	BMP1	NM_006129.5(BMP1):c.808A>G (p.Met270Val)	SNV	Pathogenic	190233	rs786205219	GRCh37: 8:22035442-22035442 GRCh38: 8:22177929-22177929
5	BMP1	NM_006129.5(BMP1):c.1297G>T (p.Ala433Ser)	SNV	Pathogenic	190234	rs786205220	GRCh37: 8:22051687-22051687 GRCh38: 8:22194174-22194174
6	BMP1	NM_006129.5(BMP1):c.584dup (p.Gln197fs)	DUP	Pathogenic	1299300		GRCh37: 8:22034501-22034502 GRCh38: 8:22176988-22176989
7	BMP1	NM_001199.4(BMP1):c.2191T>C (p.Ter731Arg)	SNV	Likely Pathogenic	1236182		GRCh37: 8:22058714-22058714 GRCh38: 8:22201201-22201201
8	BMP1	NM_006129.5(BMP1):c.965G>A (p.Cys322Tyr)	SNV	Likely Pathogenic	1299299		GRCh37: 8:22037884-22037884 GRCh38: 8:22180371-22180371
9	BMP1	NM_006129.5(BMP1):c.747C>G (p.Phe249Leu)	SNV	Likely Pathogenic	37306	rs398122891	GRCh37: 8:22035381-22035381 GRCh38: 8:22177868-22177868
10	BMP1	NM_006129.5(BMP1):c.1081A>T (p.Ile361Phe)	SNV	Uncertain Significance	1033072	rs1828947056	GRCh37: 8:22049565-22049565 GRCh38: 8:22192052-22192052
11	BMP1	NM_006129.5(BMP1):c.962-18C>G	SNV	Uncertain Significance	1033073	rs200412717	GRCh37: 8:22037863-22037863 GRCh38: 8:22180350-22180350
12	BMP1	NM_006129.5(BMP1):c.1623C>T (p.Ala541=)	SNV	Uncertain Significance	362585	rs181639729	GRCh37: 8:22052416-22052416 GRCh38: 8:22194903-22194903
13	BMP1	NM_006129.5(BMP1):c.2724C>T (p.Thr908=)	SNV	Uncertain Significance	362604	rs140092629	GRCh37: 8:22067106-22067106 GRCh38: 8:22209593-22209593
14	BMP1	NM_006129.4(BMP1):c.*601T>C	SNV	Uncertain Significance	908702	rs1829476921	GRCh37: 8:22069842-22069842 GRCh38: 8:22212329-22212329
15	BMP1	NM_006129.5(BMP1):c.1624G>A (p.Val542Ile)	SNV	Uncertain Significance	362586	rs753963317	GRCh37: 8:22052417-22052417 GRCh38: 8:22194904-22194904
16	BMP1	NM_006129.5(BMP1):c.2487C>A (p.Pro829=)	SNV	Uncertain Significance	793400	rs367978759	GRCh37: 8:22064941-22064941 GRCh38: 8:22207428-22207428
17	BMP1	NM_006129.5(BMP1):c.2730G>A (p.Glu910=)	SNV	Uncertain Significance	909491	rs574472338	GRCh37: 8:22067112-22067112 GRCh38: 8:22209599-22209599
18	BMP1	NM_006129.5(BMP1):c.2847G>A (p.Ser949=)	SNV	Uncertain Significance	748146	rs149176169	GRCh37: 8:22069127-22069127 GRCh38: 8:22211614-22211614
19	LOC113788269, BMP1	NM_006129.5(BMP1):c.1317G>A (p.Val439=)	SNV	Uncertain Significance	362582	rs373100053	GRCh37: 8:22051977-22051977 GRCh38: 8:22194464-22194464
20	BMP1	NM_006129.5(BMP1):c.421G>A (p.Gly141Arg)	SNV	Uncertain Significance	362578	rs762726234	GRCh37: 8:22033814-22033814 GRCh38: 8:22176301-22176301
21	BMP1	NM_006129.5(BMP1):c.1684C>T (p.Arg562Trp)	SNV	Uncertain Significance	362587	rs775940520	GRCh37: 8:22053019-22053019 GRCh38: 8:22195506-22195506
22	BMP1	NM_006129.5(BMP1):c.1519G>A (p.Gly507Arg)	SNV	Uncertain Significance	362584	rs768570264	GRCh37: 8:22052312-22052312 GRCh38: 8:22194799-22194799
23	BMP1	NM_006129.5(BMP1):c.1178G>A (p.Arg393Gln)	SNV	Uncertain Significance	362581	rs772355766	GRCh37: 8:22049662-22049662 GRCh38: 8:22192149-22192149
24	BMP1	NM_006129.5(BMP1):c.2075C>T (p.Ser692Phe)	SNV	Uncertain Significance	362590	rs201303856	GRCh37: 8:22054901-22054901 GRCh38: 8:22197388-22197388
25	BMP1	NM_006129.5(BMP1):c.178G>A (p.Glu60Lys)	SNV	Uncertain Significance	362576	rs886062818	GRCh37: 8:22031144-22031144 GRCh38: 8:22173631-22173631
26	BMP1	NM_006129.5(BMP1):c.402C>T (p.Val134=)	SNV	Uncertain Significance	362577	rs773025752	GRCh37: 8:22033795-22033795 GRCh38: 8:22176282-22176282
27	BMP1	NM_006129.5(BMP1):c.1044C>T (p.Cys348=)	SNV	Uncertain Significance	908567	rs149174555	GRCh37: 8:22037963-22037963 GRCh38: 8:22180450-22180450
28	BMP1	NM_006129.5(BMP1):c.1522C>T (p.Arg508Cys)	SNV	Uncertain Significance	909423	rs376781195	GRCh37: 8:22052315-22052315 GRCh38: 8:22194802-22194802
29	BMP1	NM_006129.5(BMP1):c.1639+5C>T	SNV	Uncertain Significance	909424	rs1829038661	GRCh37: 8:22052437-22052437 GRCh38: 8:22194924-22194924
30	BMP1	NM_006129.5(BMP1):c.1678G>A (p.Glu560Lys)	SNV	Uncertain Significance	909425	rs373433474	GRCh37: 8:22053013-22053013 GRCh38: 8:22195500-22195500
31	BMP1	NM_006129.5(BMP1):c.1804A>G (p.Ile602Val)	SNV	Uncertain Significance	910374	rs374534506	GRCh37: 8:22054231-22054231 GRCh38: 8:22196718-22196718
32	BMP1	NM_006129.5(BMP1):c.1868C>T (p.Ala623Val)	SNV	Uncertain Significance	910375	rs752330967	GRCh37: 8:22054295-22054295 GRCh38: 8:22196782-22196782
33	BMP1	NM_006129.5(BMP1):c.1927-13G>A	SNV	Uncertain Significance	910376	rs371954727	GRCh37: 8:22054740-22054740 GRCh38: 8:22197227-22197227
34	BMP1	NM_006129.5(BMP1):c.1938C>T (p.Tyr646=)	SNV	Uncertain Significance	799728	rs763299873	GRCh37: 8:22054764-22054764 GRCh38: 8:22197251-22197251
35	BMP1	NM_006129.5(BMP1):c.2045G>A (p.Arg682His)	SNV	Uncertain Significance	910377	rs199971581	GRCh37: 8:22054871-22054871 GRCh38: 8:22197358-22197358
36	BMP1	NM_006129.5(BMP1):c.204A>G (p.Val68=)	SNV	Uncertain Significance	911523	rs749485360	GRCh37: 8:22031170-22031170 GRCh38: 8:22173657-22173657
37	BMP1	NM_006129.5(BMP1):c.455G>A (p.Arg152Gln)	SNV	Uncertain Significance	911524	rs376680208	GRCh37: 8:22034067-22034067 GRCh38: 8:22176554-22176554
38	BMP1	NM_006129.5(BMP1):c.837-5T>C	SNV	Uncertain Significance	911525	rs369882085	GRCh37: 8:22037213-22037213 GRCh38: 8:22179700-22179700
39	BMP1	NM_006129.5(BMP1):c.2622C>T (p.Tyr874=)	SNV	Uncertain Significance	362601	rs886062820	GRCh37: 8:22067004-22067004 GRCh38: 8:22209491-22209491
40	BMP1	NM_006129.5(BMP1):c.*452A>C	SNV	Uncertain Significance	362613	rs117522390	GRCh37: 8:22069693-22069693 GRCh38: 8:22212180-22212180
41	BMP1	NM_006129.5(BMP1):c.*333G>A	SNV	Uncertain Significance	362610	rs567556443	GRCh37: 8:22069574-22069574 GRCh38: 8:22212061-22212061
42	BMP1	NM_006129.5(BMP1):c.2430G>T (p.Gly810=)	SNV	Uncertain Significance	362596	rs374092044	GRCh37: 8:22064884-22064884 GRCh38: 8:22207371-22207371
43	BMP1	NM_006129.5(BMP1):c.2803C>T (p.Leu935=)	SNV	Uncertain Significance	362605	rs886062821	GRCh37: 8:22067185-22067185 GRCh38: 8:22209672-22209672
44	BMP1	NM_006129.5(BMP1):c.*275G>A	SNV	Uncertain Significance	362608	rs886062822	GRCh37: 8:22069516-22069516 GRCh38: 8:22212003-22212003
45	BMP1	NM_006129.5(BMP1):c.2445C>T (p.Ala815=)	SNV	Uncertain Significance	362597	rs200867122	GRCh37: 8:22064899-22064899 GRCh38: 8:22207386-22207386
46	BMP1	NM_006129.5(BMP1):c.*513A>G	SNV	Uncertain Significance	362614	rs886062824	GRCh37: 8:22069754-22069754 GRCh38: 8:22212241-22212241
47	BMP1	NM_006129.5(BMP1):c.*325C>G	SNV	Uncertain Significance	362609	rs886062823	GRCh37: 8:22069566-22069566 GRCh38: 8:22212053-22212053
48	BMP1	NM_006129.5(BMP1):c.2429G>A (p.Gly810Glu)	SNV	Uncertain Significance	362595	rs886062819	GRCh37: 8:22064883-22064883 GRCh38: 8:22207370-22207370
49	BMP1	NM_006129.5(BMP1):c.2576-2A>C	SNV	Uncertain Significance	632024	rs1368161403	GRCh37: 8:22066956-22066956 GRCh38: 8:22209443-22209443
50	BMP1	NM_006129.5(BMP1):c.2437G>A (p.Ala813Thr)	SNV	Uncertain Significance	908636	rs780689541	GRCh37: 8:22064891-22064891 GRCh38: 8:22207378-22207378

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

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	BMP1	p.Phe249Leu	VAR_067224	rs398122891
2	BMP1	p.Gly12Arg	VAR_069096	rs318240762
3	BMP1	p.Met270Val	VAR_072248	rs786205219

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Expression for Osteogenesis Imperfecta, Type Xiii

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

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Pathways for Osteogenesis Imperfecta, Type Xiii

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GO Terms for Osteogenesis Imperfecta, Type Xiii

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Sources for Osteogenesis Imperfecta, Type Xiii

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

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⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

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¹⁵ DrugBank

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¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 24-Oct-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

OI13 MCID: OST123 MIFTS: 34	Osteogenesis Imperfecta, Type Xiii (OI13) Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
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Osteogenesis Imperfecta, Type Xiii (OI13)

Aliases & Classifications for Osteogenesis Imperfecta, Type Xiii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Xiii:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Osteogenesis Imperfecta, Type Xiii

Related Diseases for Osteogenesis Imperfecta, Type Xiii

Diseases in the Osteogenesis Imperfecta, Type I family:

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

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xiii

Human phenotypes related to Osteogenesis Imperfecta, Type Xiii:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Xiii

Genetic Tests for Osteogenesis Imperfecta, Type Xiii

Genetic tests related to Osteogenesis Imperfecta, Type Xiii:

Anatomical Context for Osteogenesis Imperfecta, Type Xiii

Organs/tissues related to Osteogenesis Imperfecta, Type Xiii:

Publications for Osteogenesis Imperfecta, Type Xiii

Articles related to Osteogenesis Imperfecta, Type Xiii:

Genes for Osteogenesis Imperfecta, Type Xiii

Genes related to Osteogenesis Imperfecta, Type Xiii (1 elite genes):

Variations for Osteogenesis Imperfecta, Type Xiii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xiii:

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

Expression for Osteogenesis Imperfecta, Type Xiii

Pathways for Osteogenesis Imperfecta, Type Xiii

GO Terms for Osteogenesis Imperfecta, Type Xiii

Sources for Osteogenesis Imperfecta, Type Xiii