OI10
MCID: OST127
MIFTS: 36

Osteogenesis Imperfecta, Type X (OI10)

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

Aliases & Classifications for Osteogenesis Imperfecta, Type X

MalaCards integrated aliases for Osteogenesis Imperfecta, Type X:

Name: Osteogenesis Imperfecta, Type X 56 13 39 71
Osteogenesis Imperfecta Type 10 12 52 29 6 15
Osteogenesis Imperfecta Type X 12 52 73
Oi10 56 12 73
Oi Type X 52 73
Osteogenesis Imperfecta 10 73
Oi, Type X 56
Oi Type 10 52
Oi-X 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
based on 2 sibs and an unrelated patient (patient a) (last curated october 2016)


HPO:

31
osteogenesis imperfecta, type x:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type X

UniProtKB/Swiss-Prot : 73 Osteogenesis imperfecta 10: A 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. OI10 is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclerae.

MalaCards based summary : Osteogenesis Imperfecta, Type X, also known as osteogenesis imperfecta type 10, is related to brittle bone disorder and bone mineral density quantitative trait locus 3. An important gene associated with Osteogenesis Imperfecta, Type X is SERPINH1 (Serpin Family H Member 1). Affiliated tissues include bone and lung, and related phenotypes are inguinal hernia and scoliosis

Disease Ontology : 12 An osteogenesis imperfecta that has material basis in mutation in the SERPINH gene on chromosome 11q13.

OMIM : 56 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 and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclera (Christiansen et al., 2010). (613848)

Related Diseases for Osteogenesis Imperfecta, Type X

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



Diseases related to Osteogenesis Imperfecta, Type X

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type X

Human phenotypes related to Osteogenesis Imperfecta, Type X:

31 (show all 28)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 31 HP:0000023
2 scoliosis 31 HP:0002650
3 short stature 31 HP:0004322
4 prominent forehead 31 HP:0011220
5 broad ribs 31 HP:0000885
6 genu valgum 31 HP:0002857
7 osteopenia 31 HP:0000938
8 micrognathia 31 HP:0000347
9 nephrolithiasis 31 HP:0000787
10 platyspondyly 31 HP:0000926
11 malar flattening 31 HP:0000272
12 high forehead 31 HP:0000348
13 narrow chest 31 HP:0000774
14 pyloric stenosis 31 HP:0002021
15 micromelia 31 HP:0002983
16 high pitched voice 31 HP:0001620
17 blue sclerae 31 HP:0000592
18 midface retrusion 31 HP:0011800
19 triangular face 31 HP:0000325
20 relative macrocephaly 31 HP:0004482
21 dentinogenesis imperfecta 31 HP:0000703
22 thin ribs 31 HP:0000883
23 vertebral compression fractures 31 HP:0002953
24 generalized hypotonia 31 HP:0001290
25 generalized joint laxity 31 HP:0002761
26 narrow forehead 31 HP:0000341
27 shallow orbits 31 HP:0000586
28 chronic lung disease 31 HP:0006528

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
platyspondyly
vertebral compression fractures

Head And Neck Head:
prominent forehead
high forehead
macrocephaly, relative
bitemporal narrowing
open anterior fontanel

Skeletal Limbs:
genu valgum
joint laxity, generalized
bowing of long bones
short limbs, relative

Chest External Features:
narrow chest

Growth Weight:
weight less than 5th centile

Head And Neck Teeth:
dentinogenesis imperfecta (patient a)

Abdomen Gastrointestinal:
pyloric stenosis (patient a)

Genitourinary Kidneys:
renal stones, bilateral (patient a)

Neurologic Central Nervous System:
hypotonia, generalized (patient a)

Growth Height:
short stature

Chest Ribs Sternum Clavicles And Scapulae:
broad ribs
thin ribs

Head And Neck Mouth:
micrognathia

Head And Neck Face:
triangular face
midface hypoplasia

Head And Neck Eyes:
blue sclera (patient a)
shallow orbits (patient a)

Respiratory Lung:
chronic lung disease (patient a)

Genitourinary Internal Genitalia Male:
inguinal hernia, bilateral (patient a)

Skeletal:
bone fractures, multiple
osteopenia, generalized
bone deformities, multiple

Voice:
high-pitched voice (patient a)

Clinical features from OMIM:

613848

Drugs & Therapeutics for Osteogenesis Imperfecta, Type X

Search Clinical Trials , NIH Clinical Center for Osteogenesis Imperfecta, Type X

Genetic Tests for Osteogenesis Imperfecta, Type X

Genetic tests related to Osteogenesis Imperfecta, Type X:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type 10 29 SERPINH1

Anatomical Context for Osteogenesis Imperfecta, Type X

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

40
Bone, Lung

Publications for Osteogenesis Imperfecta, Type X

Articles related to Osteogenesis Imperfecta, Type X:

(show all 18)
# Title Authors PMID Year
1
HSP47 and FKBP65 cooperate in the synthesis of type I procollagen. 6 56
25510505 2015
2
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. 56 6
20188343 2010
3
Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta. 6
19358256 2009
4
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. 6
18996919 2009
5
Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations. 6
18311573 2008
6
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
7
Osteogenesis imperfecta: clinical, biochemical and molecular findings. 6
16879195 2006
8
COL1A1/2 Osteogenesis Imperfecta 6
20301472 2005
9
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. 6
15241796 2004
10
Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. 6
15024745 2004
11
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. 6
11317364 2001
12
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. 6
11113887 2000
13
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
14
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. 6
7942841 1994
15
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. 6
2037280 1991
16
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
17
Successful aortic valve replacement for aortic regurgitation associated with osteogenesis imperfecta. 6
1137656 1975
18
Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X. 61
29520608 2018

Variations for Osteogenesis Imperfecta, Type X

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type X:

6 (show top 50) (show all 65) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SERPINH1 deletion Pathogenic 599217 11:75265452-75270725 11:75554407-75559680
2 SERPINH1 NM_001235.4(SERPINH1):c.1233dup (p.Asp412Ter)duplication Pathogenic 599349 rs1565244847 11:75283103-75283104 11:75572058-75572059
3 SERPINH1 NM_001235.4(SERPINH1):c.233T>C (p.Leu78Pro)SNV Pathogenic 30141 rs137853892 11:75277627-75277627 11:75566582-75566582
4 SERPINH1 NM_001235.4(SERPINH1):c.710T>C (p.Met237Thr)SNV Pathogenic 265865 rs886039819 11:75279863-75279863 11:75568818-75568818
5 SERPINH1 NM_001235.5(SERPINH1):c.1119C>T (p.Arg373=)SNV Conflicting interpretations of pathogenicity 717684 11:75282990-75282990 11:75571945-75571945
6 SERPINH1 NM_001235.5(SERPINH1):c.160T>C (p.Leu54=)SNV Conflicting interpretations of pathogenicity 732927 11:75277554-75277554 11:75566509-75566509
7 SERPINH1 NM_001235.4(SERPINH1):c.744C>T (p.Asp248=)SNV Conflicting interpretations of pathogenicity 197191 rs61733248 11:75280006-75280006 11:75568961-75568961
8 SERPINH1 NM_001235.4(SERPINH1):c.807C>T (p.Ile269=)SNV Uncertain significance 306108 rs773342436 11:75280069-75280069 11:75569024-75569024
9 SERPINH1 NM_001235.4(SERPINH1):c.298G>A (p.Glu100Lys)SNV Uncertain significance 306097 rs749665611 11:75277692-75277692 11:75566647-75566647
10 SERPINH1 NM_001235.3(SERPINH1):c.-185T>CSNV Uncertain significance 306094 rs886048660 11:75273214-75273214 11:75562169-75562169
11 SERPINH1 NM_001235.4(SERPINH1):c.336C>T (p.Gly112=)SNV Uncertain significance 306098 rs775801195 11:75277730-75277730 11:75566685-75566685
12 SERPINH1 NM_001235.4(SERPINH1):c.573C>A (p.Asp191Glu)SNV Uncertain significance 306104 rs745340617 11:75277967-75277967 11:75566922-75566922
13 SERPINH1 NM_001235.4(SERPINH1):c.600A>C (p.Leu200=)SNV Uncertain significance 306106 rs764723506 11:75277994-75277994 11:75566949-75566949
14 SERPINH1 NM_001235.4(SERPINH1):c.1016G>A (p.Arg339His)SNV Uncertain significance 306112 rs535510332 11:75282887-75282887 11:75571842-75571842
15 SERPINH1 NM_001235.4(SERPINH1):c.*354G>TSNV Uncertain significance 306118 rs541972599 11:75283482-75283482 11:75572437-75572437
16 SERPINH1 NM_001235.4(SERPINH1):c.*4C>GSNV Uncertain significance 306114 rs550152153 11:75283132-75283132 11:75572087-75572087
17 SERPINH1 NM_001235.3(SERPINH1):c.-211G>ASNV Uncertain significance 306091 rs564033612 11:75273188-75273188 11:75562143-75562143
18 SERPINH1 NM_001235.4(SERPINH1):c.480G>C (p.Lys160Asn)SNV Uncertain significance 306100 rs886048661 11:75277874-75277874 11:75566829-75566829
19 SERPINH1 NM_001235.4(SERPINH1):c.486C>G (p.Asn162Lys)SNV Uncertain significance 306102 rs770842307 11:75277880-75277880 11:75566835-75566835
20 SERPINH1 NM_001235.4(SERPINH1):c.*179A>GSNV Uncertain significance 306116 rs557446600 11:75283307-75283307 11:75572262-75572262
21 SERPINH1 NM_001235.4(SERPINH1):c.823G>A (p.Val275Met)SNV Uncertain significance 306109 rs199679249 11:75280085-75280085 11:75569040-75569040
22 SERPINH1 NM_001235.4(SERPINH1):c.1208T>C (p.Ile403Thr)SNV Uncertain significance 306113 rs201566218 11:75283079-75283079 11:75572034-75572034
23 SERPINH1 NM_001235.4(SERPINH1):c.*228A>GSNV Uncertain significance 306117 rs189882479 11:75283356-75283356 11:75572311-75572311
24 SERPINH1 NM_001235.5(SERPINH1):c.58G>A (p.Glu20Lys)SNV Uncertain significance 880527 11:75277452-75277452 11:75566407-75566407
25 SERPINH1 NM_001235.5(SERPINH1):c.139A>G (p.Ser47Gly)SNV Uncertain significance 880528 11:75277533-75277533 11:75566488-75566488
26 SERPINH1 NM_001235.5(SERPINH1):c.339G>C (p.Glu113Asp)SNV Uncertain significance 881942 11:75277733-75277733 11:75566688-75566688
27 SERPINH1 NM_001235.5(SERPINH1):c.588C>T (p.Asp196=)SNV Uncertain significance 883119 11:75277982-75277982 11:75566937-75566937
28 SERPINH1 NM_001235.5(SERPINH1):c.839G>A (p.Arg280His)SNV Uncertain significance 883897 11:75280101-75280101 11:75569056-75569056
29 SERPINH1 NM_001235.5(SERPINH1):c.1042C>T (p.Leu348=)SNV Uncertain significance 880603 11:75282913-75282913 11:75571868-75571868
30 SERPINH1 NM_001235.5(SERPINH1):c.1059C>T (p.His353=)SNV Uncertain significance 880604 11:75282930-75282930 11:75571885-75571885
31 SERPINH1 NM_001235.5(SERPINH1):c.1152C>T (p.Ala384=)SNV Uncertain significance 880605 11:75283023-75283023 11:75571978-75571978
32 SERPINH1 NM_001235.5(SERPINH1):c.1178G>A (p.Arg393Gln)SNV Uncertain significance 880606 11:75283049-75283049 11:75572004-75572004
33 SERPINH1 NM_001235.5(SERPINH1):c.*73G>TSNV Uncertain significance 880607 11:75283201-75283201 11:75572156-75572156
34 SERPINH1 NM_001235.5(SERPINH1):c.*74G>ASNV Uncertain significance 882023 11:75283202-75283202 11:75572157-75572157
35 SERPINH1 NM_001235.5(SERPINH1):c.*153G>ASNV Uncertain significance 882025 11:75283281-75283281 11:75572236-75572236
36 SERPINH1 NM_001235.5(SERPINH1):c.*536C>ASNV Uncertain significance 883183 11:75283664-75283664 11:75572619-75572619
37 SERPINH1 NM_001235.5(SERPINH1):c.*668A>GSNV Uncertain significance 883184 11:75283796-75283796 11:75572751-75572751
38 SERPINH1 NM_001235.4(SERPINH1):c.918del (p.Leu306fs)deletion Uncertain significance 631665 rs1565243329 11:75280180-75280180 11:75569135-75569135
39 SERPINH1 NM_001235.4(SERPINH1):c.565A>G (p.Thr189Ala)SNV Uncertain significance 440263 rs138784081 11:75277959-75277959 11:75566914-75566914
40 SERPINH1 NM_001235.4(SERPINH1):c.1214G>A (p.Arg405His)SNV Uncertain significance 545689 rs781125078 11:75283085-75283085 11:75572040-75572040
41 SERPINH1 NM_001235.4(SERPINH1):c.580C>A (p.Arg194Ser)SNV Uncertain significance 195143 rs141721173 11:75277974-75277974 11:75566929-75566929
42 SERPINH1 NM_001235.4(SERPINH1):c.92G>C (p.Gly31Ala)SNV Uncertain significance 290775 rs140588417 11:75277486-75277486 11:75566441-75566441
43 SERPINH1 NM_001235.3(SERPINH1):c.-191A>GSNV Uncertain significance 306092 rs865919284 11:75273208-75273208 11:75562163-75562163
44 SERPINH1 NM_001235.4(SERPINH1):c.481A>C (p.Ile161Leu)SNV Uncertain significance 306101 rs112083274 11:75277875-75277875 11:75566830-75566830
45 SERPINH1 NM_001235.4(SERPINH1):c.492C>T (p.Arg164=)SNV Uncertain significance 306103 rs150586616 11:75277886-75277886 11:75566841-75566841
46 SERPINH1 NM_001235.4(SERPINH1):c.*511G>ASNV Uncertain significance 306120 rs886048662 11:75283639-75283639 11:75572594-75572594
47 SERPINH1 NM_001235.4(SERPINH1):c.*531C>GSNV Uncertain significance 306122 rs374355309 11:75283659-75283659 11:75572614-75572614
48 SERPINH1 NM_001235.4(SERPINH1):c.*556G>ASNV Uncertain significance 306123 rs180685772 11:75283684-75283684 11:75572639-75572639
49 SERPINH1 NM_001235.5(SERPINH1):c.*117G>ASNV Likely benign 882024 11:75283245-75283245 11:75572200-75572200
50 SERPINH1 NM_001235.4(SERPINH1):c.*668A>TSNV Likely benign 306125 rs185499724 11:75283796-75283796 11:75572751-75572751

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

73
# Symbol AA change Variation ID SNP ID
1 SERPINH1 p.Leu78Pro VAR_063602 rs137853892

Expression for Osteogenesis Imperfecta, Type X

Search GEO for disease gene expression data for Osteogenesis Imperfecta, Type X.

Pathways for Osteogenesis Imperfecta, Type X

GO Terms for Osteogenesis Imperfecta, Type X

Biological processes related to Osteogenesis Imperfecta, Type X according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid transport GO:0006869 8.62 OSBP2 ABCA3

Sources for Osteogenesis Imperfecta, Type X

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
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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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