Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal musculoskeletal physiology (HP:0011843)

Parent Node:
Increased susceptibility to fractures (HP:0002659)

..Starting node
..Pathologic fracture (HP:0002756)

Term ID:

2756

Name:

Pathologic fracture

Synonym:

Pathologic fractures; Spontaneous fracture; Spontaneous fractures

Definition:

A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.

Comments:

Reference:

HP:0002756

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bowing of limbs due to multiple fractures (HP:0003023)

Multiple prenatal fractures (HP:0005855)

Painless fractures due to injury (HP:0002661)

Recurrent fractures (HP:0002757)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002756	HP:0002756	Pathologic fracture	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0002756	HP:0002756	Pathologic fracture	0	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I	.	260
HP:0002756	HP:0002756	Pathologic fracture	0	ALPL CL E G H	249	438	OMIM:146300	Hypophosphatasia, adult	.	126
HP:0002756	HP:0002756	Pathologic fracture	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	145
HP:0002756	HP:0002756	Pathologic fracture	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	71
HP:0002756	HP:0002756	Pathologic fracture	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	5
HP:0002756	HP:0002756	Pathologic fracture	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent	315
HP:0002756	HP:0002756	Pathologic fracture	0	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis	HP:0040283 - Occasional	8
HP:0002756	HP:0002756	Pathologic fracture	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0002756	HP:0002756	Pathologic fracture	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0002756	HP:0002756	Pathologic fracture	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	317
HP:0002756	HP:0002756	Pathologic fracture	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040281 - Very frequent	1
HP:0002756	HP:0002756	Pathologic fracture	0	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma	HP:0040284 - Very rare	833
HP:0002756	HP:0002756	Pathologic fracture	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.	160
HP:0002756	HP:0002756	Pathologic fracture	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent	45
HP:0002756	HP:0002756	Pathologic fracture	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent	63
HP:0002756	HP:0002756	Pathologic fracture	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional
HP:0002756	HP:0002756	Pathologic fracture	0	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I	.
HP:0002756	HP:0002756	Pathologic fracture	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.	13
HP:0002756	HP:0002756	Pathologic fracture	0	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic	.	101
HP:0002756	HP:0002756	Pathologic fracture	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0002756	HP:0002756	Pathologic fracture	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040284 - Very rare	31
HP:0002756	HP:0002756	Pathologic fracture	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040284 - Very rare	5
HP:0002756	HP:0002756	Pathologic fracture	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	HP:0040283 - Occasional	6
HP:0002756	HP:0002756	Pathologic fracture	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0002756	HP:0002756	Pathologic fracture	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.	125
HP:0002756	HP:0002756	Pathologic fracture	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent
HP:0002756	HP:0002756	Pathologic fracture	0	MET CL E G H	4233	7029	OMIM:607278	Osteofibrous dysplasia, susceptibility to		375
HP:0002756	HP:0002756	Pathologic fracture	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.	85
HP:0002756	HP:0002756	Pathologic fracture	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0002756	HP:0002756	Pathologic fracture	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0002756	HP:0002756	Pathologic fracture	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:0002756	HP:0002756	Pathologic fracture	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.	58
HP:0002756	HP:0002756	Pathologic fracture	0	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma	HP:0040284 - Very rare	365
HP:0002756	HP:0002756	Pathologic fracture	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional	445
HP:0002756	HP:0002756	Pathologic fracture	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	181
HP:0002756	HP:0002756	Pathologic fracture	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0002756	HP:0002756	Pathologic fracture	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional	77
HP:0002756	HP:0002756	Pathologic fracture	0	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040283 - Occasional	47
HP:0002756	HP:0002756	Pathologic fracture	0	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040283 - Occasional	52
HP:0002756	HP:0002756	Pathologic fracture	0	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant	.	109
HP:0002756	HP:0002756	Pathologic fracture	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040284 - Very rare	104
HP:0002756	HP:0002756	Pathologic fracture	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare	164
HP:0002756	HP:0002756	Pathologic fracture	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	54
HP:0002756	HP:0002756	Pathologic fracture	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	149
HP:0002756	HP:0002756	Pathologic fracture	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	1
HP:0002756	HP:0002756	Pathologic fracture	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1	.	82
HP:0002756	HP:0002756	Pathologic fracture	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	3
HP:0002756	HP:0002756	Pathologic fracture	0	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis	.	72
HP:0002756	HP:0002756	Pathologic fracture	0	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma	HP:0040284 - Very rare	911
HP:0002756	HP:0002756	Pathologic fracture	0	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31
HP:0002756	HP:0002756	Pathologic fracture	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.	22
HP:0002756	HP:0002756	Pathologic fracture	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.	41
HP:0002756	HP:0002756	Pathologic fracture	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040284 - Very rare	63

Genes (53) :AGA AGXT ALPL ASXL1 ATL1 ATL3 ATP7B B2M B3GALT6 BANF1 CBL CCND1 CHEK2 CTC1 EFEMP2 FBLN5 GBA1 GK GNAS GNPTAB HNRNPA1 HNRNPA2B1 IER3IP1 LIFR LRP5 LTBP1 MET MTAP NOTCH2 OCRL PLOD3 PTH1R RB1 RECQL4 RUNX1 SC5D SCARB2 SLC34A1 SLC34A3 SLC4A1 SLC7A7 SMPD1 SPTLC1 SPTLC2 SRSF2 TCIRG1 TET2 TNFRSF11A TP53 TREM2 TYROBP UROS VCP

Diseases (39) :OMIM:208400 OMIM:259900 OMIM:146300 ORPHA:98850 ORPHA:36386 ORPHA:905 ORPHA:314652 OMIM:271640 OMIM:614008 ORPHA:29073 ORPHA:668 OMIM:612199 ORPHA:90349 ORPHA:77259 OMIM:230800 OMIM:307030 OMIM:174800 OMIM:252500 ORPHA:52430 OMIM:614231 OMIM:601559 OMIM:259770 OMIM:607278 OMIM:112250 OMIM:102500 OMIM:309000 OMIM:612394 OMIM:156400 ORPHA:221016 OMIM:607330 ORPHA:157215 OMIM:179800 ORPHA:470 ORPHA:77293 OMIM:259700 OMIM:174810 OMIM:618193 OMIM:221770 OMIM:263700

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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