OI13
MCID: OST123
MIFTS: 34

Osteogenesis Imperfecta, Type Xiii (OI13)

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Xiii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Xiii:

Name: Osteogenesis Imperfecta, Type Xiii 56 29 13 6 39 71
Oi13 56 12 73
Osteogenesis Imperfecta Type Xiii 12 73
Osteogenesis Imperfecta Type 13 12 15
Osteogenesis Imperfecta 13 73
Oi, Type Xiii 56
Oi Type Xiii 73
Oi-Xiii 73

Characteristics:

OMIM:

56
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 : 56 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)

MalaCards based summary : Osteogenesis Imperfecta, Type Xiii, also known as oi13, is related to surfactant metabolism dysfunction, pulmonary, 2 and osteogenesis imperfecta, type xvii. 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 : 73 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

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:

56
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

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:

(show all 23)
# Title Authors PMID Year
1
Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta. 56 6
25402547 2015
2
A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children. 56 6
25214535 2015
3
Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects. 6 56
24648371 2014
4
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. 56 6
22482805 2012
5
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. 56 6
22052668 2012
6
Three children with lower limb fractures and a mineralization defect: a novel bone fragility disorder? 6 56
15542026 2004
7
Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta. 6
19358256 2009
8
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. 6
18996919 2009
9
Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations. 6
18311573 2008
10
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. 6
17078022 2007
11
Osteogenesis imperfecta: clinical, biochemical and molecular findings. 6
16879195 2006
12
COL1A1/2 Osteogenesis Imperfecta 6
20301472 2005
13
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. 6
15241796 2004
14
Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. 6
15024745 2004
15
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. 6
11317364 2001
16
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. 6
11113887 2000
17
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
8669434 1996
18
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. 6
7942841 1994
19
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. 6
2037280 1991
20
The molecular defect in an autosomal dominant form of osteogenesis imperfecta. Synthesis of type I procollagen containing cysteine in the triple-helical domain of pro-alpha 1(I) chains. 6
3722186 1986
21
Genetic heterogeneity in osteogenesis imperfecta. 56
458828 1979
22
Successful aortic valve replacement for aortic regurgitation associated with osteogenesis imperfecta. 6
1137656 1975
23
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 85) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BMP1 NM_006129.5(BMP1):c.747C>G (p.Phe249Leu)SNV Pathogenic 37306 rs398122891 8:22035381-22035381 8:22177868-22177868
2 BMP1 NM_006129.5(BMP1):c.34G>C (p.Gly12Arg)SNV Pathogenic 37307 rs318240762 8:22022952-22022952 8:22165439-22165439
3 BMP1 NM_006129.5(BMP1):c.2108-359T>CSNV Pathogenic 190231 rs786205217 8:22058957-22058957 8:22201444-22201444
4 BMP1 NM_006129.5(BMP1):c.2107G>C (p.Asp703His)SNV Pathogenic 190232 rs786205218 8:22054933-22054933 8:22197420-22197420
5 BMP1 NM_006129.5(BMP1):c.808A>G (p.Met270Val)SNV Pathogenic 190233 rs786205219 8:22035442-22035442 8:22177929-22177929
6 BMP1 NM_006129.5(BMP1):c.1297G>T (p.Ala433Ser)SNV Pathogenic 190234 rs786205220 8:22051687-22051687 8:22194174-22194174
7 BMP1 NM_006129.5(BMP1):c.2724C>T (p.Thr908=)SNV Conflicting interpretations of pathogenicity 362604 rs140092629 8:22067106-22067106 8:22209593-22209593
8 BMP1 NM_006129.5(BMP1):c.2406C>T (p.Tyr802=)SNV Conflicting interpretations of pathogenicity 362594 rs144666655 8:22064860-22064860 8:22207347-22207347
9 BMP1 NM_006129.5(BMP1):c.2847G>A (p.Ser949=)SNV Conflicting interpretations of pathogenicity 748146 8:22069127-22069127 8:22211614-22211614
10 BMP1 NM_006129.5(BMP1):c.2700C>T (p.Tyr900=)SNV Conflicting interpretations of pathogenicity 764850 8:22067082-22067082 8:22209569-22209569
11 BMP1 NM_006129.5(BMP1):c.1938C>T (p.Tyr646=)SNV Conflicting interpretations of pathogenicity 799728 8:22054764-22054764 8:22197251-22197251
12 BMP1 NM_006129.5(BMP1):c.2487C>A (p.Pro829=)SNV Conflicting interpretations of pathogenicity 793400 8:22064941-22064941 8:22207428-22207428
13 BMP1 NM_006129.5(BMP1):c.*172A>CSNV Uncertain significance 910425 8:22069413-22069413 8:22211900-22211900
14 BMP1 NM_006129.5(BMP1):c.*208G>TSNV Uncertain significance 910426 8:22069449-22069449 8:22211936-22211936
15 BMP1 NM_006129.5(BMP1):c.204A>G (p.Val68=)SNV Uncertain significance 911523 8:22031170-22031170 8:22173657-22173657
16 BMP1 NM_006129.5(BMP1):c.455G>A (p.Arg152Gln)SNV Uncertain significance 911524 8:22034067-22034067 8:22176554-22176554
17 BMP1 NM_006129.5(BMP1):c.1044C>T (p.Cys348=)SNV Uncertain significance 908567 8:22037963-22037963 8:22180450-22180450
18 BMP1 NM_006129.5(BMP1):c.1522C>T (p.Arg508Cys)SNV Uncertain significance 909423 8:22052315-22052315 8:22194802-22194802
19 BMP1 NM_006129.5(BMP1):c.1678G>A (p.Glu560Lys)SNV Uncertain significance 909425 8:22053013-22053013 8:22195500-22195500
20 BMP1 NM_006129.5(BMP1):c.1804A>G (p.Ile602Val)SNV Uncertain significance 910374 8:22054231-22054231 8:22196718-22196718
21 BMP1 NM_006129.5(BMP1):c.1868C>T (p.Ala623Val)SNV Uncertain significance 910375 8:22054295-22054295 8:22196782-22196782
22 BMP1 NM_006129.5(BMP1):c.2045G>A (p.Arg682His)SNV Uncertain significance 910377 8:22054871-22054871 8:22197358-22197358
23 BMP1 NM_006129.5(BMP1):c.2166C>T (p.Phe722=)SNV Uncertain significance 911586 8:22059374-22059374 8:22201861-22201861
24 BMP1 NM_006129.5(BMP1):c.2321C>T (p.Thr774Met)SNV Uncertain significance 911587 8:22064454-22064454 8:22206941-22206941
25 BMP1 NM_006129.5(BMP1):c.2437G>A (p.Ala813Thr)SNV Uncertain significance 908636 8:22064891-22064891 8:22207378-22207378
26 BMP1 NM_006129.5(BMP1):c.2730G>A (p.Glu910=)SNV Uncertain significance 909491 8:22067112-22067112 8:22209599-22209599
27 BMP1 NM_006129.5(BMP1):c.2751C>T (p.Cys917=)SNV Uncertain significance 909492 8:22067133-22067133 8:22209620-22209620
28 BMP1 NM_006129.5(BMP1):c.2134G>A (p.Gly712Ser)SNV Uncertain significance 498501 rs117159093 8:22059342-22059342 8:22201829-22201829
29 BMP1 NM_006129.5(BMP1):c.2576-2A>CSNV Uncertain significance 632024 rs1368161403 8:22066956-22066956 8:22209443-22209443
30 BMP1 NM_006129.5(BMP1):c.*121C>GSNV Uncertain significance 910424 8:22069362-22069362 8:22211849-22211849
31 BMP1 NM_006129.5(BMP1):c.*339T>CSNV Uncertain significance 911652 8:22069580-22069580 8:22212067-22212067
32 BMP1 NM_006129.5(BMP1):c.*503G>ASNV Uncertain significance 908700 8:22069744-22069744 8:22212231-22212231
33 BMP1 NM_006129.5(BMP1):c.*525G>TSNV Uncertain significance 908701 8:22069766-22069766 8:22212253-22212253
34 BMP1 NM_006129.5(BMP1):c.837-5T>CSNV Uncertain significance 911525 8:22037213-22037213 8:22179700-22179700
35 BMP1 NM_006129.5(BMP1):c.1639+5C>TSNV Uncertain significance 909424 8:22052437-22052437 8:22194924-22194924
36 BMP1 NM_006129.5(BMP1):c.1927-13G>ASNV Uncertain significance 910376 8:22054740-22054740 8:22197227-22197227
37 BMP1 NM_006129.5(BMP1):c.2575+12G>ASNV Uncertain significance 908637 8:22065041-22065041 8:22207528-22207528
38 BMP1 NC_000008.11:g.22212329T>CSNV Uncertain significance 908702 8:22069842-22069842 8:22212329-22212329
39 BMP1 NM_006129.5(BMP1):c.2430G>T (p.Gly810=)SNV Uncertain significance 362596 rs374092044 8:22064884-22064884 8:22207371-22207371
40 BMP1 NM_006129.5(BMP1):c.2445C>T (p.Ala815=)SNV Uncertain significance 362597 rs200867122 8:22064899-22064899 8:22207386-22207386
41 BMP1 NM_006129.5(BMP1):c.1519G>A (p.Gly507Arg)SNV Uncertain significance 362584 rs768570264 8:22052312-22052312 8:22194799-22194799
42 BMP1 NM_006129.5(BMP1):c.1623C>T (p.Ala541=)SNV Uncertain significance 362585 rs181639729 8:22052416-22052416 8:22194903-22194903
43 BMP1 NM_006129.5(BMP1):c.1684C>T (p.Arg562Trp)SNV Uncertain significance 362587 rs775940520 8:22053019-22053019 8:22195506-22195506
44 BMP1 NM_006129.5(BMP1):c.1317G>A (p.Val439=)SNV Uncertain significance 362582 rs373100053 8:22051977-22051977 8:22194464-22194464
45 BMP1 NM_006129.5(BMP1):c.402C>T (p.Val134=)SNV Uncertain significance 362577 rs773025752 8:22033795-22033795 8:22176282-22176282
46 BMP1 NM_006129.5(BMP1):c.1624G>A (p.Val542Ile)SNV Uncertain significance 362586 rs753963317 8:22052417-22052417 8:22194904-22194904
47 BMP1 NM_006129.5(BMP1):c.2429G>A (p.Gly810Glu)SNV Uncertain significance 362595 rs886062819 8:22064883-22064883 8:22207370-22207370
48 BMP1 NM_006129.5(BMP1):c.2622C>T (p.Tyr874=)SNV Uncertain significance 362601 rs886062820 8:22067004-22067004 8:22209491-22209491
49 BMP1 NM_006129.5(BMP1):c.2803C>T (p.Leu935=)SNV Uncertain significance 362605 rs886062821 8:22067185-22067185 8:22209672-22209672
50 BMP1 NM_006129.5(BMP1):c.1178G>A (p.Arg393Gln)SNV Uncertain significance 362581 rs772355766 8:22049662-22049662 8:22192149-22192149

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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