ORPHA:216804

Osteogenesis imperfecta type 2

Synonyms: Lethal osteogenesis imperfecta · OI type 2

Type: Clinical subtype
Group: Subtype of disorder
Inheritance: Autosomal dominant, Autosomal recessive
Age of onset: Antenatal, Neonatal
Status: active

A lethal type of osteogenesis imperfecta (OI) characterized by increased bone fragility, low bone mass and susceptibility to bone fractures and presenting with multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density skull on X-ray, and dark sclera.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Osteogenesis imperfecta type 2	Lethal osteogenesis imperfecta · OI type 2
fr	Ostéogenèse imparfaite type 2	OI type 2 · Ostéogenèse imparfaite létale
de	Osteogenesis imperfecta Typ 2	Letale Osteogenesis imperfecta · OI Typ 2
es	Osteogénesis imperfecta tipo 2	Osteogénesis imperfecta letal · OI tipo 2
it	Osteogenesi imperfetta tipo 2	OI tipo 2 · Osteogenesi imperfetta letale · OI, tipo 2
nl	Osteogenesis imperfecta type 2	Letale osteogenesis imperfecta · OI type 2
pt	Osteogénese imperfecta tipo 2	OI tipo 2 · Osteogénese imperfeita letal · Osteogénese imperfeita tipo 2
pl	Wrodzona łamliwość kości typu 2	OI typu 2 · Śmiertelna postać wrodzonej łamliwości kości
cs	Osteogenesis imperfecta, typ 2	Letální osteogenesis imperfecta · OI typ 2
uk	Недосконалий остеогенез, тип 2	Летальний недосконалий остеогенез · Тип 2 ОІ
zh	成骨不全症2型	致死性成骨不全
tr	Osteogenezis imperfekta tip 2	OI tip 2 · Letal osteogenezis imperfekta

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	166210	E		validated
OMIM	259440	BTNT		validated
OMIM	610682	BTNT		validated
OMIM	610915	BTNT		validated
OMIM	618644	BTNT		validated
ICD-10	Q78.0	NTBT	attributed	validated
ICD-11	LD24.K0	NTBT	index	validated
MONDO	0008147	E		validated
UMLS	C0268358	E		validated
GARD	10142	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93419Rare bone disease

Parents in the classifications (2):

ORPHA:666Osteogenesis imperfecta
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
ORPHA:519296Rare disorder with pigmented sclera
rare genetic diseases; rare ophthalmic disorders

No children.

Genes

6 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
MESD	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:13520	ENSG00000117899	607783	15q25.1	mesoderm development LRP chaperone	33596325[PMID]_31564437[PMID]
COL1A1	Disease-causing germline mutation(s) in	Assessed	HGNC:2197	ENSG00000108821	120150	17q21.33	collagen type I alpha 1 chain	21438135[PMID]_20301472[PMID]
COL1A2	Disease-causing germline mutation(s) in	Assessed	HGNC:2198	ENSG00000164692	120160	7q21.3	collagen type I alpha 2 chain	21438135[PMID]_20301472[PMID]
CRTAP	Disease-causing germline mutation(s) in	Assessed	HGNC:2379	ENSG00000170275	605497	3p22.3	cartilage associated protein	21438135[PMID]
P3H1	Disease-causing germline mutation(s) in	Assessed	HGNC:19316	ENSG00000117385	610339	1p34.2	prolyl 3-hydroxylase 1	21438135[PMID]
PPIB	Disease-causing germline mutation(s) in	Assessed	HGNC:9255	ENSG00000166794	123841	15q22.31	peptidylprolyl isomerase B	21438135[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/216804
This record as JSON: /data/d/216804.json