Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 cellular physiology (HP:0011017)

Parent Node:
Abnormality of chromosome stability (HP:0003220)

..Starting node
..Chromosome breakage (HP:0040012)

Term ID:

40012

Name:

Chromosome breakage

Synonym:

High frequency of chromosome breaks in lymphocytes; Increased chromosomal breakage; Increased chromosomal breakage rate; Multiple chromosomal breaks; Tendency to chromosomal breakage

Definition:

Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.

Comments:

Reference:

HP:0040012

Genes and Diseases:

Child Nodes:

........

Chromosomal breakage induced by crosslinking agents (HP:0003221)

........

Folate-dependent fragile site at Xq28 (HP:0003564)

........

Chromosomal breakage induced by ionizing radiation (HP:0010997)

Sister Nodes:

Increased susceptibility to spontaneous sister chromatid exchange (HP:0010998)

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:0040012	HP:0040012	Chromosome breakage	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0040012	HP:0040012	Chromosome breakage	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0040012	HP:0040012	Chromosome breakage	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0040012	HP:0040012	Chromosome breakage	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.	5769
HP:0040012	HP:0040012	Chromosome breakage	0	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0040012	HP:0040012	Chromosome breakage	0	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0040012	HP:0040012	Chromosome breakage	0	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0040012	HP:0040012	Chromosome breakage	0	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q	.	158
HP:0040012	HP:0040012	Chromosome breakage	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0040012	HP:0040012	Chromosome breakage	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0040012	HP:0040012	Chromosome breakage	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0040012	HP:0040012	Chromosome breakage	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0040012	HP:0040012	Chromosome breakage	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0040012	HP:0040012	Chromosome breakage	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0040012	HP:0040012	Chromosome breakage	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	.	53
HP:0040012	HP:0040012	Chromosome breakage	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome		30
HP:0040012	HP:0040012	Chromosome breakage	0	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome		30
HP:0040012	HP:0040012	Chromosome breakage	0	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0040012	HP:0040012	Chromosome breakage	0	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69
HP:0040012	HP:0040012	Chromosome breakage	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0040012	HP:0040012	Chromosome breakage	0	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N		1349
HP:0040012	HP:0040012	Chromosome breakage	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0040012	HP:0040012	Chromosome breakage	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0040012	HP:0040012	Chromosome breakage	0	RAD50 CL E G H	10111	9816	OMIM:613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD		789
HP:0040012	HP:0040012	Chromosome breakage	0	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O		391
HP:0040012	HP:0040012	Chromosome breakage	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0040012	HP:0040012	Chromosome breakage	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0040012	HP:0040012	Chromosome breakage	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0040012	HP:0040012	Chromosome breakage	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0040012	HP:0040012	Chromosome breakage	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0040012	HP:0040012	Chromosome breakage	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0040012	HP:0040012	Chromosome breakage	0	TMEM185A CL E G H	84548	17125	ORPHA:100974	FRAXF syndrome		3
HP:0040012	HP:0040012	Chromosome breakage	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0040012	HP:0040012	Chromosome breakage	0	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0040012	HP:0010997	Chromosomal breakage induced by ionizing radiation	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	54
HP:0040012	HP:0010997	Chromosomal breakage induced by ionizing radiation	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	184
HP:0040012	HP:0003221	Chromosomal breakage induced by crosslinking agents	1	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0040012	HP:0003221	Chromosomal breakage induced by crosslinking agents	1	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0040012	HP:0003221	Chromosomal breakage induced by crosslinking agents	1	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0040012	HP:0003221	Chromosomal breakage induced by crosslinking agents	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0040012	HP:0003221	Chromosomal breakage induced by crosslinking agents	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0040012	HP:0003221	Chromosomal breakage induced by crosslinking agents	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2	.	147
HP:0040012	HP:0003221	Chromosomal breakage induced by crosslinking agents	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0040012	HP:0003221	Chromosomal breakage induced by crosslinking agents	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0040012	HP:0003221	Chromosomal breakage induced by crosslinking agents	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0040012	HP:0003221	Chromosomal breakage induced by crosslinking agents	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0040012	HP:0003564	Folate-dependent fragile site at Xq28	1	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome	.	30
HP:0040012	HP:0003564	Folate-dependent fragile site at Xq28	1	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040281 - Very frequent	30
HP:0040012	HP:0003221	Chromosomal breakage induced by crosslinking agents	1	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0040012	HP:0010997	Chromosomal breakage induced by ionizing radiation	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	220
HP:0040012	HP:0003221	Chromosomal breakage induced by crosslinking agents	1	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N	.	1349
HP:0040012	HP:0010997	Chromosomal breakage induced by ionizing radiation	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	9
HP:0040012	HP:0010997	Chromosomal breakage induced by ionizing radiation	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	162
HP:0040012	HP:0010997	Chromosomal breakage induced by ionizing radiation	1	RAD50 CL E G H	10111	9816	OMIM:613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD		789
HP:0040012	HP:0010997	Chromosomal breakage induced by ionizing radiation	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040281 - Very frequent	7
HP:0040012	HP:0010997	Chromosomal breakage induced by ionizing radiation	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	87
HP:0040012	HP:0010997	Chromosomal breakage induced by ionizing radiation	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	47
HP:0040012	HP:0010997	Chromosomal breakage induced by ionizing radiation	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	22
HP:0040012	HP:0010997	Chromosomal breakage induced by ionizing radiation	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	124
HP:0040012	HP:0010997	Chromosomal breakage induced by ionizing radiation	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	238
HP:0040012	HP:0003564	Folate-dependent fragile site at Xq28	1	TMEM185A CL E G H	84548	17125	ORPHA:100974	FRAXF syndrome		3
HP:0040012	HP:0010997	Chromosomal breakage induced by ionizing radiation	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040281 - Very frequent

Genes (33) :AKT1 BAP1 BLM BRCA1 BRCA2 BRIP1 COX4I1 ERCC4 FANCA FANCC FANCD2 FANCE FANCF FANCI FANCL FMR1 MAD2L2 MCM4 NF2 PALB2 PDGFB PIK3CA RAD50 RAD51C RNF168 SMARCB1 SMARCE1 SMO SUFU TERT TMEM185A TRAF7 XRCC2

Diseases (24) :ORPHA:2495 OMIM:210900 OMIM:617883 OMIM:605724 OMIM:609054 OMIM:619060 OMIM:615272 OMIM:227650 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:603467 OMIM:609053 OMIM:614083 OMIM:300624 ORPHA:908 OMIM:617243 OMIM:609981 OMIM:610832 OMIM:613078 OMIM:613390 ORPHA:420741 ORPHA:100974 OMIM:617247

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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