OI13
MCID: OST123
MIFTS: 36

Osteogenesis Imperfecta, Type Xiii (OI13)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Osteogenesis Imperfecta, Type Xiii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Xiii:

Name: Osteogenesis Imperfecta, Type Xiii 57 29 13 6 39 70
Oi13 57 12 72
Osteogenesis Imperfecta Type Xiii 12 72
Osteogenesis Imperfecta Type 13 12 15
Osteogenesis Imperfecta 13 72
Oi, Type Xiii 57
Oi Type Xiii 72
Oi-Xiii 72

Characteristics:

OMIM®:

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

Miscellaneous:
skeletal features are variably present


HPO:

31
osteogenesis imperfecta, type xiii:
Inheritance autosomal recessive inheritance


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 05-Apr-2021)

MalaCards based summary : Osteogenesis Imperfecta, Type Xiii, also known as oi13, is related to osteogenesis imperfecta, type xv and surfactant metabolism dysfunction, pulmonary, 2. 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

Disease Ontology : 12 An osteogenesis imperfecta that has material basis in mutation in the BMP1 gene on chromosome 8p21.

UniProtKB/Swiss-Prot : 72 Osteogenesis imperfecta 13: 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.

Related Diseases for Osteogenesis Imperfecta, Type Xiii

Diseases in the Osteogenesis Imperfecta, Type I family:

Osteogenesis Imperfecta, Type Ii Osteogenesis Imperfecta, Type Iv
Osteogenesis Imperfecta, Type Iii 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 Xiii via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type xv 10.2 RPL21 DNAH9
2 surfactant metabolism dysfunction, pulmonary, 2 10.2 SFTPC BMP1
3 osteogenesis imperfecta, type xii 10.2 RPL21 DNAH9
4 osteogenesis imperfecta, type xix 10.1 RPL21 BMP1
5 haemophilus meningitis 10.0 SFTPC MT-CO1
6 male reproductive organ benign neoplasm 9.8 TAFA4 CDKN2A
7 respiratory system benign neoplasm 9.6 SFTPC CDKN2A
8 osteogenesis imperfecta, type xvi 8.4 RPL21 PCAT2 NR1H4 MT-CO1 MCL1 LCK
9 osteogenesis imperfecta, type xvii 8.4 RPL21 PCAT2 NR1H4 MT-CO1 MCL1 LCK
10 osteogenesis imperfecta, type xviii 8.3 RPL21 PCAT2 NR1H4 MT-CO1 MCL1 LCK

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



Diseases related to Osteogenesis Imperfecta, Type Xiii

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xiii

Human phenotypes related to Osteogenesis Imperfecta, Type Xiii:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 pectus carinatum 31 occasional (7.5%) HP:0000768
2 umbilical hernia 31 occasional (7.5%) HP:0001537
3 short stature 31 occasional (7.5%) HP:0004322
4 osteoporosis 31 occasional (7.5%) HP:0000939
5 kyphoscoliosis 31 occasional (7.5%) HP:0002751
6 arachnodactyly 31 occasional (7.5%) HP:0001166
7 joint hypermobility 31 occasional (7.5%) HP:0001382
8 long philtrum 31 occasional (7.5%) HP:0000343
9 protruding ear 31 occasional (7.5%) HP:0000411
10 broad forehead 31 occasional (7.5%) HP:0000337
11 increased bone mineral density 31 occasional (7.5%) HP:0011001
12 thin vermilion border 31 occasional (7.5%) HP:0000233
13 wormian bones 31 occasional (7.5%) HP:0002645
14 decreased body weight 31 occasional (7.5%) HP:0004325
15 blue sclerae 31 occasional (7.5%) HP:0000592
16 long eyelashes 31 occasional (7.5%) HP:0000527
17 delayed gross motor development 31 occasional (7.5%) HP:0002194
18 dislocated radial head 31 occasional (7.5%) HP:0003083
19 generalized hypotonia 31 occasional (7.5%) HP:0001290
20 long palpebral fissure 31 occasional (7.5%) HP:0000637
21 skeletal muscle atrophy 31 HP:0003202
22 platyspondyly 31 HP:0000926
23 triangular face 31 HP:0000325

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

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 Xiii 29 BMP1

Anatomical Context for Osteogenesis Imperfecta, Type Xiii

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

40
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. 6 57
25402547 2015
2
A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children. 57 6
25214535 2015
3
Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects. 57 6
24648371 2014
4
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. 6 57
22482805 2012
5
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. 6 57
22052668 2012
6
Three children with lower limb fractures and a mineralization defect: a novel bone fragility disorder? 6 57
15542026 2004
7
Genetic heterogeneity in osteogenesis imperfecta. 57
458828 1979
8
Skeletal dysplasias in a hospital in southern India. 61
8613334 1995

Variations for Osteogenesis Imperfecta, Type Xiii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xiii:

6 (show top 50) (show all 88)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BMP1 NM_006129.5(BMP1):c.747C>G (p.Phe249Leu) SNV Pathogenic 37306 rs398122891 GRCh37: 8:22035381-22035381
GRCh38: 8:22177868-22177868
2 BMP1 NM_006129.5(BMP1):c.34G>C (p.Gly12Arg) SNV Pathogenic 37307 rs318240762 GRCh37: 8:22022952-22022952
GRCh38: 8:22165439-22165439
3 BMP1 NM_006129.5(BMP1):c.2108-359T>C SNV Pathogenic 190231 rs786205217 GRCh37: 8:22058957-22058957
GRCh38: 8:22201444-22201444
4 BMP1 NM_006129.5(BMP1):c.2107G>C (p.Asp703His) SNV Pathogenic 190232 rs786205218 GRCh37: 8:22054933-22054933
GRCh38: 8:22197420-22197420
5 BMP1 NM_006129.5(BMP1):c.808A>G (p.Met270Val) SNV Pathogenic 190233 rs786205219 GRCh37: 8:22035442-22035442
GRCh38: 8:22177929-22177929
6 BMP1 NM_006129.5(BMP1):c.1297G>T (p.Ala433Ser) SNV Pathogenic 190234 rs786205220 GRCh37: 8:22051687-22051687
GRCh38: 8:22194174-22194174
7 BMP1 NM_006129.5(BMP1):c.1624G>A (p.Val542Ile) SNV Uncertain significance 362586 rs753963317 GRCh37: 8:22052417-22052417
GRCh38: 8:22194904-22194904
8 BMP1 NM_006129.5(BMP1):c.421G>A (p.Gly141Arg) SNV Uncertain significance 362578 rs762726234 GRCh37: 8:22033814-22033814
GRCh38: 8:22176301-22176301
9 BMP1 NM_006129.5(BMP1):c.1684C>T (p.Arg562Trp) SNV Uncertain significance 362587 rs775940520 GRCh37: 8:22053019-22053019
GRCh38: 8:22195506-22195506
10 BMP1 NM_006129.5(BMP1):c.1519G>A (p.Gly507Arg) SNV Uncertain significance 362584 rs768570264 GRCh37: 8:22052312-22052312
GRCh38: 8:22194799-22194799
11 BMP1 NM_006129.5(BMP1):c.1178G>A (p.Arg393Gln) SNV Uncertain significance 362581 rs772355766 GRCh37: 8:22049662-22049662
GRCh38: 8:22192149-22192149
12 BMP1 NM_006129.5(BMP1):c.178G>A (p.Glu60Lys) SNV Uncertain significance 362576 rs886062818 GRCh37: 8:22031144-22031144
GRCh38: 8:22173631-22173631
13 BMP1 NM_006129.5(BMP1):c.2576-2A>C SNV Uncertain significance 632024 rs1368161403 GRCh37: 8:22066956-22066956
GRCh38: 8:22209443-22209443
14 BMP1 NM_006129.5(BMP1):c.*325C>G SNV Uncertain significance 362609 rs886062823 GRCh37: 8:22069566-22069566
GRCh38: 8:22212053-22212053
15 BMP1 NM_006129.5(BMP1):c.*121C>G SNV Uncertain significance 910424 GRCh37: 8:22069362-22069362
GRCh38: 8:22211849-22211849
16 BMP1 NM_006129.5(BMP1):c.*172A>C SNV Uncertain significance 910425 GRCh37: 8:22069413-22069413
GRCh38: 8:22211900-22211900
17 BMP1 NM_006129.5(BMP1):c.*208G>T SNV Uncertain significance 910426 GRCh37: 8:22069449-22069449
GRCh38: 8:22211936-22211936
18 BMP1 NM_006129.5(BMP1):c.2166C>T (p.Phe722=) SNV Uncertain significance 911586 GRCh37: 8:22059374-22059374
GRCh38: 8:22201861-22201861
19 BMP1 NM_006129.5(BMP1):c.2321C>T (p.Thr774Met) SNV Uncertain significance 911587 GRCh37: 8:22064454-22064454
GRCh38: 8:22206941-22206941
20 BMP1 NM_006129.5(BMP1):c.2622C>T (p.Tyr874=) SNV Uncertain significance 362601 rs886062820 GRCh37: 8:22067004-22067004
GRCh38: 8:22209491-22209491
21 BMP1 NM_006129.5(BMP1):c.*452A>C SNV Uncertain significance 362613 rs117522390 GRCh37: 8:22069693-22069693
GRCh38: 8:22212180-22212180
22 BMP1 NM_006129.5(BMP1):c.*333G>A SNV Uncertain significance 362610 rs567556443 GRCh37: 8:22069574-22069574
GRCh38: 8:22212061-22212061
23 BMP1 NM_006129.5(BMP1):c.2430G>T (p.Gly810=) SNV Uncertain significance 362596 rs374092044 GRCh37: 8:22064884-22064884
GRCh38: 8:22207371-22207371
24 BMP1 NM_006129.5(BMP1):c.2803C>T (p.Leu935=) SNV Uncertain significance 362605 rs886062821 GRCh37: 8:22067185-22067185
GRCh38: 8:22209672-22209672
25 BMP1 NM_006129.5(BMP1):c.*275G>A SNV Uncertain significance 362608 rs886062822 GRCh37: 8:22069516-22069516
GRCh38: 8:22212003-22212003
26 BMP1 NM_006129.5(BMP1):c.2445C>T (p.Ala815=) SNV Uncertain significance 362597 rs200867122 GRCh37: 8:22064899-22064899
GRCh38: 8:22207386-22207386
27 BMP1 NM_006129.5(BMP1):c.*513A>G SNV Uncertain significance 362614 rs886062824 GRCh37: 8:22069754-22069754
GRCh38: 8:22212241-22212241
28 BMP1 NM_006129.5(BMP1):c.2406C>T (p.Tyr802=) SNV Uncertain significance 362594 rs144666655 GRCh37: 8:22064860-22064860
GRCh38: 8:22207347-22207347
29 BMP1 NM_006129.5(BMP1):c.2594G>A (p.Arg865Gln) SNV Uncertain significance 362600 rs142443043 GRCh37: 8:22066976-22066976
GRCh38: 8:22209463-22209463
30 BMP1 NM_006129.5(BMP1):c.2437G>A (p.Ala813Thr) SNV Uncertain significance 908636 GRCh37: 8:22064891-22064891
GRCh38: 8:22207378-22207378
31 BMP1 NM_006129.5(BMP1):c.2575+12G>A SNV Uncertain significance 908637 GRCh37: 8:22065041-22065041
GRCh38: 8:22207528-22207528
32 BMP1 NM_006129.5(BMP1):c.*503G>A SNV Uncertain significance 908700 GRCh37: 8:22069744-22069744
GRCh38: 8:22212231-22212231
33 BMP1 NM_006129.5(BMP1):c.*525G>T SNV Uncertain significance 908701 GRCh37: 8:22069766-22069766
GRCh38: 8:22212253-22212253
34 BMP1 NM_006129.5(BMP1):c.2730G>A (p.Glu910=) SNV Uncertain significance 909491 GRCh37: 8:22067112-22067112
GRCh38: 8:22209599-22209599
35 BMP1 NM_006129.5(BMP1):c.2751C>T (p.Cys917=) SNV Uncertain significance 909492 GRCh37: 8:22067133-22067133
GRCh38: 8:22209620-22209620
36 BMP1 NM_006129.5(BMP1):c.2429G>A (p.Gly810Glu) SNV Uncertain significance 362595 rs886062819 GRCh37: 8:22064883-22064883
GRCh38: 8:22207370-22207370
37 BMP1 NM_006129.5(BMP1):c.*339T>C SNV Uncertain significance 911652 GRCh37: 8:22069580-22069580
GRCh38: 8:22212067-22212067
38 LOC113788269 , BMP1 NM_006129.5(BMP1):c.1317G>A (p.Val439=) SNV Uncertain significance 362582 rs373100053 GRCh37: 8:22051977-22051977
GRCh38: 8:22194464-22194464
39 BMP1 NM_006129.5(BMP1):c.1623C>T (p.Ala541=) SNV Uncertain significance 362585 rs181639729 GRCh37: 8:22052416-22052416
GRCh38: 8:22194903-22194903
40 BMP1 NM_006129.5(BMP1):c.402C>T (p.Val134=) SNV Uncertain significance 362577 rs773025752 GRCh37: 8:22033795-22033795
GRCh38: 8:22176282-22176282
41 BMP1 NM_006129.5(BMP1):c.1522C>T (p.Arg508Cys) SNV Uncertain significance 909423 GRCh37: 8:22052315-22052315
GRCh38: 8:22194802-22194802
42 BMP1 NM_006129.5(BMP1):c.1639+5C>T SNV Uncertain significance 909424 GRCh37: 8:22052437-22052437
GRCh38: 8:22194924-22194924
43 BMP1 NM_006129.5(BMP1):c.1678G>A (p.Glu560Lys) SNV Uncertain significance 909425 GRCh37: 8:22053013-22053013
GRCh38: 8:22195500-22195500
44 BMP1 NM_006129.5(BMP1):c.1804A>G (p.Ile602Val) SNV Uncertain significance 910374 GRCh37: 8:22054231-22054231
GRCh38: 8:22196718-22196718
45 BMP1 NM_006129.5(BMP1):c.1868C>T (p.Ala623Val) SNV Uncertain significance 910375 GRCh37: 8:22054295-22054295
GRCh38: 8:22196782-22196782
46 BMP1 NM_006129.5(BMP1):c.1927-13G>A SNV Uncertain significance 910376 GRCh37: 8:22054740-22054740
GRCh38: 8:22197227-22197227
47 BMP1 NM_006129.5(BMP1):c.1938C>T (p.Tyr646=) SNV Uncertain significance 799728 rs763299873 GRCh37: 8:22054764-22054764
GRCh38: 8:22197251-22197251
48 BMP1 NM_006129.5(BMP1):c.2045G>A (p.Arg682His) SNV Uncertain significance 910377 GRCh37: 8:22054871-22054871
GRCh38: 8:22197358-22197358
49 BMP1 NM_006129.5(BMP1):c.204A>G (p.Val68=) SNV Uncertain significance 911523 GRCh37: 8:22031170-22031170
GRCh38: 8:22173657-22173657
50 BMP1 NM_006129.5(BMP1):c.455G>A (p.Arg152Gln) SNV Uncertain significance 911524 GRCh37: 8:22034067-22034067
GRCh38: 8:22176554-22176554

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

72
# 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

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
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