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:
Abnormality of the musculature (HP:0003011)

Parent Node:
Abnormal muscle physiology (HP:0011804)

..Starting node
..Tetany (HP:0001281)

Term ID:

1281

Name:

Tetany

Synonym:

Intermittent involuntary muscle spasm

Definition:

A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.

Comments:

Reference:

HP:0001281

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal muscle tone (HP:0003808)

EMG abnormality (HP:0003457)

Functional motor deficit (HP:0004302)

Increased muscle fatiguability (HP:0003750)

Muscle hyperirritability (HP:0003559)

Muscle spasm (HP:0003394)

Muscle stiffness (HP:0003552)

Muscle weakness (HP:0001324)

Myotonia (HP:0002486)

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:0001281	HP:0001281	Tetany	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	1
HP:0001281	HP:0001281	Tetany	0	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0001281	HP:0001281	Tetany	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.	58
HP:0001281	HP:0001281	Tetany	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	6
HP:0001281	HP:0001281	Tetany	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0001281	HP:0001281	Tetany	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0001281	HP:0001281	Tetany	0	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0001281	HP:0001281	Tetany	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	8
HP:0001281	HP:0001281	Tetany	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	3
HP:0001281	HP:0001281	Tetany	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	2
HP:0001281	HP:0001281	Tetany	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0001281	HP:0001281	Tetany	0	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated	.	16
HP:0001281	HP:0001281	Tetany	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0001281	HP:0001281	Tetany	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0001281	HP:0001281	Tetany	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.	75
HP:0001281	HP:0001281	Tetany	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0001281	HP:0001281	Tetany	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0001281	HP:0001281	Tetany	0	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.	52
HP:0001281	HP:0001281	Tetany	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	32
HP:0001281	HP:0001281	Tetany	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0001281	HP:0001281	Tetany	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1	.	82
HP:0001281	HP:0001281	Tetany	0	TRPM6 CL E G H	140803	17995	OMIM:602014	Hypomagnesemia 1, intestinal	.	85
HP:0001281	HP:0001281	Tetany	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent

Genes (21) :ARVCF CASR CLDN16 COMT CYP27B1 CYP2R1 GATA3 GP1BB HIRA JMJD1C KCNJ1 PTH RREB1 SEC24C SLC12A1 SLC12A3 TBCE TBX1 TCIRG1 TRPM6 UFD1

Diseases (14) :ORPHA:567 OMIM:601198 OMIM:248250 ORPHA:289157 OMIM:146255 OMIM:241200 OMIM:146200 OMIM:601678 OMIM:263800 OMIM:241410 OMIM:244460 OMIM:188400 OMIM:259700 OMIM:602014

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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