MCID: OST123
MIFTS: 25

Osteogenesis Imperfecta, Type Xiii

Categories: Genetic diseases, Bone diseases, Rare diseases, Fetal diseases, Oral 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 40 73
Oi13 57 12 75
Osteogenesis Imperfecta Type Xiii 12 75
Osteogenesis Imperfecta Type 13 12
Osteogenesis Imperfecta 13 75
Oi, Type Xiii 57
Oi Type Xiii 75
Oi-Xiii 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
skeletal features are variably present


HPO:

32
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)

MalaCards based summary : Osteogenesis Imperfecta, Type Xiii, is also known as oi13. 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 thin vermilion border and triangular face

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

UniProtKB/Swiss-Prot : 75 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.

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xiii

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
platyspondyly
kyphoscoliosis
vertebral fractures
s-curve scoliosis of thoracic and lumbar spine

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

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 Skull:
wormian bones

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

Human phenotypes related to Osteogenesis Imperfecta, Type Xiii:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 thin vermilion border 32 occasional (7.5%) HP:0000233
2 triangular face 32 HP:0000325
3 broad forehead 32 occasional (7.5%) HP:0000337
4 long philtrum 32 occasional (7.5%) HP:0000343
5 protruding ear 32 occasional (7.5%) HP:0000411
6 long eyelashes 32 occasional (7.5%) HP:0000527
7 blue sclerae 32 occasional (7.5%) HP:0000592
8 long palpebral fissure 32 occasional (7.5%) HP:0000637
9 pectus carinatum 32 occasional (7.5%) HP:0000768
10 platyspondyly 32 HP:0000926
11 osteoporosis 32 occasional (7.5%) HP:0000939
12 arachnodactyly 32 occasional (7.5%) HP:0001166
13 generalized hypotonia 32 occasional (7.5%) HP:0001290
14 joint hypermobility 32 occasional (7.5%) HP:0001382
15 umbilical hernia 32 occasional (7.5%) HP:0001537
16 delayed gross motor development 32 occasional (7.5%) HP:0002194
17 wormian bones 32 occasional (7.5%) HP:0002645
18 kyphoscoliosis 32 occasional (7.5%) HP:0002751
19 dislocated radial head 32 occasional (7.5%) HP:0003083
20 skeletal muscle atrophy 32 HP:0003202
21 short stature 32 occasional (7.5%) HP:0004322
22 decreased body weight 32 occasional (7.5%) HP:0004325
23 increased bone mineral density 32 occasional (7.5%) HP:0011001

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:

41
Bone, Skeletal Muscle

Publications for Osteogenesis Imperfecta, Type Xiii

Variations for Osteogenesis Imperfecta, Type Xiii

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

75
# 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

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xiii:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 BMP1 NM_006129.4(BMP1): c.747C> G (p.Phe249Leu) single nucleotide variant Pathogenic rs398122891 GRCh37 Chromosome 8, 22035381: 22035381
2 BMP1 NM_006129.4(BMP1): c.747C> G (p.Phe249Leu) single nucleotide variant Pathogenic rs398122891 GRCh38 Chromosome 8, 22177868: 22177868
3 BMP1 NM_006129.4(BMP1): c.34G> C (p.Gly12Arg) single nucleotide variant Pathogenic rs318240762 GRCh37 Chromosome 8, 22022952: 22022952
4 BMP1 NM_006129.4(BMP1): c.34G> C (p.Gly12Arg) single nucleotide variant Pathogenic rs318240762 GRCh38 Chromosome 8, 22165439: 22165439
5 BMP1 NM_001199.3(BMP1): c.2107G> C (p.Glu703Gln) single nucleotide variant Pathogenic rs786205218 GRCh37 Chromosome 8, 22054933: 22054933
6 BMP1 NM_001199.3(BMP1): c.2107G> C (p.Glu703Gln) single nucleotide variant Pathogenic rs786205218 GRCh38 Chromosome 8, 22197420: 22197420
7 BMP1 NM_001199.3(BMP1): c.*241T> C single nucleotide variant Pathogenic rs786205217 GRCh37 Chromosome 8, 22058957: 22058957
8 BMP1 NM_001199.3(BMP1): c.*241T> C single nucleotide variant Pathogenic rs786205217 GRCh38 Chromosome 8, 22201444: 22201444
9 BMP1 NM_006129.4(BMP1): c.808A> G (p.Met270Val) single nucleotide variant Pathogenic rs786205219 GRCh38 Chromosome 8, 22177929: 22177929
10 BMP1 NM_006129.4(BMP1): c.808A> G (p.Met270Val) single nucleotide variant Pathogenic rs786205219 GRCh37 Chromosome 8, 22035442: 22035442
11 BMP1 NM_006129.4(BMP1): c.1297G> T (p.Ala433Ser) single nucleotide variant Pathogenic rs786205220 GRCh37 Chromosome 8, 22051687: 22051687
12 BMP1 NM_006129.4(BMP1): c.1297G> T (p.Ala433Ser) single nucleotide variant Pathogenic rs786205220 GRCh38 Chromosome 8, 22194174: 22194174

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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