ORPHA:667

Autosomal recessive malignant osteopetrosis

Synonyms: Infantile malignant osteopetrosis

A rare congenital disorder of bone resorption characterized by generalized skeletal densification.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Autosomal recessive malignant osteopetrosis	Infantile malignant osteopetrosis
fr	Ostéopétrose maligne autosomique récessive	Ostéopétrose maligne infantile
de	Osteopetrose, maligne, autosomal-rezessive Form	Osteopetrose, infantile maligne
es	Osteopetrosis maligna autosómica recesiva	Osteopetrosis maligna del lactante
it	Osteopetrosi maligna autosomica recessiva	Osteopetrosi maligna infantile
nl	Autosomaal recessieve maligne osteopetrose	Infantiele maligne osteopetrose
pt	Osteopetrose maligna autossómica recessiva	Osteopetrose maligna infantil
pl	Autosomalna recesywna osteopetroza złośliwa	Dziecięca osteopetroza złośliwa
cs	Autozomálně recesivní maligní osteopetróza	Dětská maligní osteopetróza
uk	Аутосомно-рецесивний злоякісний остеопетроз	Інфантильний злоякісний остеопетроз
zh	常染色体隐性恶性型骨硬化症	婴儿恶性石骨症
tr	Otozomal resesif habis osteopetroz	İnfantil habis osteopetroz

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	259700	BTNT		validated
OMIM	259710	BTNT		validated
OMIM	259720	BTNT		validated
OMIM	611490	BTNT		validated
OMIM	615085	BTNT		validated
ICD-10	Q78.2	NTBT	attributed	validated
ICD-11	LD24.10	NTBT	index	validated
MONDO	0019026	E		validated
UMLS	C1318518	E		validated

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

Preferential parent (Orphanet linearisation):

Parents in the classifications (3):

ORPHA:519337Disorder with optic nerve compression
rare genetic diseases; rare ophthalmic disorders
ORPHA:728475Inherited bone marrow failure disorder with immune defect
rare genetic diseases; rare immunological diseases
ORPHA:2781Osteopetrosis and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare transplant-related disorders

No children.

5 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
TCIRG1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:11647	ENSG00000110719	604592	11q13.2	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	20424301[PMID]_15300850[PMID]_21042819[PMID]_23877423[PMID]
CLCN7	Disease-causing germline mutation(s) in	Assessed	HGNC:2025	ENSG00000103249	602727	16p13.3	Cl-/H+ antiporter 7	22419446[PMID]_20424301[PMID]_20301306[PMID]_23877423[PMID]
OSTM1	Disease-causing germline mutation(s) in	Assessed	HGNC:21652	ENSG00000081087	607649	6q21	osteoclastogenesis associated transmembrane protein 1	15177004[PMID]
SNX10	Disease-causing germline mutation(s) in	Assessed	HGNC:14974	ENSG00000086300	614780	7p15.2	sorting nexin 10	22499339[PMID]_23877423[PMID]
TNFSF11	Disease-causing germline mutation(s) in	Assessed	HGNC:11926	ENSG00000120659	602642	13q14.11	TNF superfamily member 11	17632511[PMID]_23877423[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Prevalence at birth	1-9 / 1 000 000	0.75 / 100 000	Europe	Value and class	Not yet validated	ORPHANET
Point prevalence	1-9 / 1 000 000	—	Europe	Class only	Not yet 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.

43 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0008066	Abnormal blistering of the skin
HP:0000944	Abnormal metaphysis morphology
HP:0000772	Abnormal rib morphology
HP:0005930	Abnormality of epiphysis morphology
HP:0010719	Abnormality of hair texture
HP:0001939	Abnormality of metabolism/homeostasis
HP:0100022	Abnormality of movement
HP:0004370	Abnormality of temperature regulation
HP:0000649	Abnormality of visual evoked potentials
HP:0001903	Anemia
HP:0002653	Bone pain
HP:0006487	Bowing of the long bones
HP:0002257	Chronic rhinitis
HP:0001363	Craniosynostosis
HP:0000684	Delayed eruption of teeth
HP:0001510	Growth delay
HP:0000365	Hearing impairment
HP:0002240	Hepatomegaly
HP:0000238	Hydrocephalus
HP:0002716	Lymphadenopathy
HP:0000256	Macrocephaly
HP:0000774	Narrow chest
HP:0000639	Nystagmus
HP:0010543	Opsoclonus
HP:0007807	Optic nerve compression
HP:0011002	Osteopetrosis
HP:0000388	Otitis media
HP:0000980	Pallor
HP:0006323	Premature loss of primary teeth
HP:0002757	Recurrent fractures
HP:0002205	Recurrent respiratory infections
HP:0004349	Reduced bone mineral density
HP:0001744	Splenomegaly
HP:0001337	Tremor
HP:0000505	Visual impairment
Occasional (29-5%)
HP:0001641	Abnormal pulmonary valve morphology
HP:0002104	Apnea
HP:0000978	Bruising susceptibility
HP:0006824	Cranial nerve paralysis
HP:0002901	Hypocalcemia
HP:0002148	Hypophosphatemia
HP:0002092	Pulmonary arterial hypertension
HP:0004415	Pulmonary artery stenosis