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:

Aliases & Classifications for Osteogenesis Imperfecta, Type Xiii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Xiii:

Name: Osteogenesis Imperfecta, Type Xiii 57 38 71
Osteogenesis Imperfecta Type 13 11 28 5 14
Oi13 57 11 73
Osteogenesis Imperfecta Type Xiii 11 73
Osteogenesis Imperfecta 13 73
Oi, Type Xiii 57
Oi Type Xiii 73
Oi-Xiii 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
skeletal features are variably present


Classifications:



Summaries for Osteogenesis Imperfecta, Type Xiii

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.

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xiii

Human phenotypes related to Osteogenesis Imperfecta, Type Xiii:

30 (show all 23)
# Description HPO Frequency Orphanet 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)

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Xiii

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

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

Anatomical Context for Osteogenesis Imperfecta, Type Xiii

Organs/tissues related to Osteogenesis Imperfecta, Type Xiii:

MalaCards : Bone, Skeletal Muscle

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
25402547 2015
2
A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children. 57 5
25214535 2015
3
Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects. 57 5
24648371 2014
4
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. 57 5
22482805 2012
5
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. 57 5
22052668 2012
6
Three children with lower limb fractures and a mineralization defect: a novel bone fragility disorder? 57 5
15542026 2004
7
Genetic heterogeneity in osteogenesis imperfecta. 57
458828 1979
8
Novel homozygous variant in BMP1 associated with a rare osteogenesis imperfecta phenotype. 62
33624138 2021
9
Novel mutations in BMP1 induce a rare type of osteogenesis imperfecta. 62
30408480 2019
10
Skeletal dysplasias in a hospital in southern India. 62
8613334 1995

Variations for Osteogenesis Imperfecta, Type Xiii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xiii:

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

Expression for Osteogenesis Imperfecta, Type Xiii

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

Pathways for Osteogenesis Imperfecta, Type Xiii

GO Terms for Osteogenesis Imperfecta, Type Xiii

Sources for Osteogenesis Imperfecta, Type Xiii

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....