OSTEOGENESIS IMPERFECTA, TYPE X

General Information (adopted from Orphanet):

Synonyms, Signs: OI, TYPE X
OI10
Number of Symptoms 36
OrphanetNr:
OMIM Id: 613848
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:0000787) Nephrolithiasis 78 / 7739
2
(HPO:0000272) Malar flattening 277 / 7739
3
(HPO:0000586) Shallow orbits 23 / 7739
4
(HPO:0000348) High forehead 157 / 7739
5
(HPO:0011800) Midface retrusion 221 / 7739
6
(HPO:0000341) Narrow forehead 96 / 7739
7
(HPO:0000347) Micrognathia 426 / 7739
8
(HPO:0004482) Relative macrocephaly 44 / 7739
9
(HPO:0011220) Prominent forehead 137 / 7739
10
(HPO:0000703) Dentinogenesis imperfecta 18 / 7739
11
(HPO:0000325) Triangular face 91 / 7739
12
(HPO:0000592) Blue sclerae 85 / 7739
13
(HPO:0006487) Bowing of the long bones 95 / 7739
14
(HPO:0002983) Micromelia 130 / 7739
15
(HPO:0002761) Generalized joint laxity 8 / 7739
16
(HPO:0000774) Narrow chest 167 / 7739
17
(HPO:0000885) Broad ribs 21 / 7739
18
(HPO:0001388) Joint laxity 117 / 7739
19
(HPO:0000926) Platyspondyly 150 / 7739
20
(HPO:0000938) Osteopenia 138 / 7739
21
(HPO:0002650) Scoliosis 705 / 7739
22
(HPO:0000883) Thin ribs 31 / 7739
23
(HPO:0002857) Genu valgum 144 / 7739
24
(HPO:0002021) Pyloric stenosis 51 / 7739
25
(HPO:0000023) Inguinal hernia 181 / 7739
26
(HPO:0004322) Short stature 1232 / 7739
27
(HPO:0001620) High pitched voice 32 / 7739
28
(HPO:0006528) Chronic lung disease 5 / 7739
29
(HPO:0001290) Generalized hypotonia 51 / 7739
30
(OMIM) Bone fractures, multiple 1 / 7739
31
(OMIM) Open anterior fontanel 2 / 7739
32
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
33
(OMIM) Bone deformities, multiple 1 / 7739
34
(OMIM) Short limbs, relative 1 / 7739
35
(OMIM) Weight less than 5th centile 1 / 7739
36
(OMIM) Renal stones, bilateral 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type X is an autosomal recessive form characterized by multiple bone deformities ...
Clinical Description OMIM Christiansen et al. (2010) reported a child with a severe deforming form of OI who was born to a clinically normal consanguineous Saudi Arabian couple and was the only affected member in the extended family. At birth he ...
Molecular genetics OMIM Because the SERPINH1 gene encodes a collagen-binding protein that functions as a chaperone in the endoplasmic reticulum, Christiansen et al. (2010) screened for mutations in this gene in individuals with OI whose cells did not produce overmodified type ...