OSTEOGENESIS IMPERFECTA, TYPE XIII

General Information (adopted from Orphanet):

Synonyms, Signs: OI, TYPE XIII
OI13
Number of Symptoms 56
OrphanetNr:
OMIM Id: 614856
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000592) Blue sclerae rare [HPO:skoehler] 85 / 7739
2
(HPO:0004322) Short stature rare [HPO:skoehler] 1232 / 7739
3
(HPO:0001519) Disproportionate tall stature 39 / 7739
4
(HPO:0004325) Decreased body weight rare [HPO:skoehler] 492 / 7739
5
(HPO:0003202) Skeletal muscle atrophy 281 / 7739
6
(HPO:0001252) Muscular hypotonia rare [HPO:skoehler] 990 / 7739
7
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
8
(HPO:0010547) Muscle flaccidity 466 / 7739
9
(HPO:0001324) Muscle weakness 859 / 7739
10
(HPO:0002194) Delayed gross motor development rare [HPO:skoehler] 37 / 7739
11
(HPO:0001166) Arachnodactyly rare [HPO:skoehler] 62 / 7739
12
(HPO:0003083) Dislocated radial head rare [HPO:skoehler] 35 / 7739
13
(HPO:0000337) Broad forehead rare [HPO:skoehler] 116 / 7739
14
(HPO:0002645) Wormian bones rare [HPO:skoehler] 65 / 7739
15
(HPO:0000768) Pectus carinatum rare [HPO:skoehler] 136 / 7739
16
(HPO:0000917) Superior pectus carinatum 11 / 7739
17
(HPO:0000926) Platyspondyly 150 / 7739
18
(HPO:0002751) Kyphoscoliosis rare [HPO:skoehler] 131 / 7739
19
(HPO:0011001) Increased bone mineral density rare [HPO:skoehler] 78 / 7739
20
(HPO:0000939) Osteoporosis rare [HPO:skoehler] 129 / 7739
21
(HPO:0005692) Joint hyperflexibility 20 / 7739
22
(HPO:0001382) Joint hypermobility rare [HPO:skoehler] 231 / 7739
23
(HPO:0001388) Joint laxity 117 / 7739
24
(HPO:0000527) Long eyelashes rare [HPO:skoehler] 46 / 7739
25
(HPO:0011231) Prominent eyelashes 9 / 7739
26
(HPO:0001537) Umbilical hernia rare [HPO:skoehler] 206 / 7739
27
(HPO:0001539) Omphalocele 102 / 7739
28
(HPO:0000325) Triangular face 91 / 7739
29
(HPO:0000343) Long philtrum rare [HPO:skoehler] 262 / 7739
30
(HPO:0000233) Thin vermilion border rare [HPO:skoehler] 124 / 7739
31
(HPO:0000637) Long palpebral fissure rare [HPO:skoehler] 21 / 7739
32
(HPO:0009904) Prominent ear helix 8 / 7739
33
(HPO:0000411) Protruding ear rare [HPO:skoehler] 140 / 7739
34
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
35
(MedDRA:10049470) Bone density decreased 3 / 7739
36
(OMIM) Bowing of lower extremity long bones 1 / 7739
37
(OMIM) Bowing of upper extremity long bones (in some patients) 1 / 7739
38
(OMIM) Deformed clavicles (in some patients) 1 / 7739
39
(OMIM) Faint blue sclera (in some patients) 1 / 7739
40
(OMIM) High deoxypyridinoline/creatinine (in some patients) 1 / 7739
41
(OMIM) Increased anteroposterior and transverse diameters of the thorax (in some patients) 1 / 7739
42
(OMIM) Lack of bone modeling with wide distal metaphyses of femora (in some patients) 1 / 7739
43
(OMIM) Limited movements of the knee joints (in some patients) 1 / 7739
44
(OMIM) Low procollagen 1 C-peptide (in some patients) 1 / 7739
45
(OMIM) No dentinogenesis imperfecta 4 / 7739
46
(OMIM) No hearing impairment 1 / 7739
47
(OMIM) Normal 14 / 7739
48
(OMIM) Normal calcium level 1 / 7739
49
(OMIM) Normal intelligence 81 / 7739
50
(OMIM) Normal phosphate level 1 / 7739
51
(OMIM) Normal to slightly high alkaline phosphatase 1 / 7739
52
(OMIM) Osteoporosis, borderline (in some patients) 1 / 7739
53
(OMIM) Prenatal fractures (in some patients) 1 / 7739
54
(OMIM) S-curve scoliosis of thoracic and lumbar spine (in some patients) 1 / 7739
55
(OMIM) Serpentine thin tibiae and fibulae (in some patients) 1 / 7739
56
(OMIM) Vertebral fractures 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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: ...
Clinical Description OMIM Martinez-Glez et al. (2012) described a sister and brother, offspring of first-cousin Egyptian parents, with autosomal recessive OI. The 15-year-old female proband had a triangular face, broad forehead, wide palpebral fissures, long eyelashes, faint blue sclerae, long philtrum, ...
Molecular genetics OMIM By direct sequencing of the BMP1 gene in a proband with severe autosomal recessive osteogenesis imperfecta and a large umbilical hernia, the offspring of consanguineous Egyptian parents, Martinez-Glez et al. (2012) identified homozygosity for a missense mutation in ...