Hypercalcemia, Infantile, 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Hypercalcemia, Infantile, 1

MalaCards integrated aliases for Hypercalcemia, Infantile, 1:

Name: Hypercalcemia, Infantile, 1 ⁵⁷ ⁷⁵

Idiopathic Hypercalcemia of Infancy ⁷⁵ ²⁹ ⁶

Hypercalcemia Infantile ⁷⁵ ³⁷

Hypercalcemia ⁴⁴ ⁷³

Hcinf1 ⁵⁷ ⁷⁵

Hypercalcemia, Idiopathic, of Infancy ⁵⁷

Hypercalcemia, Infantile, Type 1 ⁴⁰

Hypercalcemia, Infantile ¹³

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
most patients develop symptoms while on prophylactic vitamin d supplementation in infancy
some patients may not present until adulthood

HPO:

³²

hypercalcemia, infantile, 1:
Inheritance autosomal recessive inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 143880

MedGen ⁴² C4310232 C0268080

MeSH ⁴⁴ D006934

KEGG ³⁷ H01371

UMLS ⁷³ C0020437

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Summaries for Hypercalcemia, Infantile, 1

OMIM : ⁵⁷ Infantile hypercalcemia is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. An epidemic of idiopathic infantile hypercalcemia occurred in the United Kingdom in the 1950s after the implementation of an increased prophylactic dose of vitamin D supplementation; however, the fact that most infants receiving the prophylaxis remained unaffected suggested that an intrinsic hypersensitivity to vitamin D might be implicated in the pathogenesis (summary by Schlingmann et al., 2011). (143880)

MalaCards based summary : Hypercalcemia, Infantile, 1, also known as idiopathic hypercalcemia of infancy, is related to hypocalciuric hypercalcemia, familial, type i and hypocalciuric hypercalcemia, familial, type ii. An important gene associated with Hypercalcemia, Infantile, 1 is CYP24A1 (Cytochrome P450 Family 24 Subfamily A Member 1), and among its related pathways/superpathways are Steroid biosynthesis and Peptide ligand-binding receptors. Affiliated tissues include lung, kidney and bone, and related phenotypes are intellectual disability and failure to thrive

UniProtKB/Swiss-Prot : ⁷⁵ Hypercalcemia, infantile, 1: A disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis.

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Related Diseases for Hypercalcemia, Infantile, 1

Diseases in the Hypercalcemia, Infantile, 1 family:

Hypercalcemia, Infantile, 2

Diseases related to Hypercalcemia, Infantile, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 485)

#	Related Disease	Score	Top Affiliating Genes
1	hypocalciuric hypercalcemia, familial, type i	34.2	PTH CASR
2	hypocalciuric hypercalcemia, familial, type ii	34.1	PTH CASR
3	familial hypocalciuric hypercalcemia	34.1	PTH CASR
4	hypocalciuric hypercalcemia, familial, type iii	34.0	PTHLH PTH CASR
5	hyperparathyroidism, neonatal severe	32.7	PRKAR1A CASR
6	parathyroid carcinoma	31.9	PTH CASR CALCA
7	familial isolated hyperparathyroidism	31.7	PTH CASR
8	metaphyseal chondrodysplasia, jansen type	31.4	PTHLH PTH1R PTH CALCA
9	primary hyperparathyroidism	31.1	CALCA CASR PRKAR1A PTH PTH1R PTHLH
10	hypocalcemia, autosomal dominant 1	31.1	VDR PTH PRKAR1A CASR CALCA
11	nephrocalcinosis	30.3	PTH CYP24A1 CASR
12	bone resorption disease	30.0	VDR PTH CALCA
13	multiple endocrine neoplasia	30.0	PRKAR1A CALCA
14	hyperparathyroidism	29.8	VDR PTHLH PTH PRKAR1A CASR CALCA
15	islet cell tumor	29.8	PTHLH CALCA
16	hypoparathyroidism	29.8	PTHLH PTH1R PTH CASR
17	hypervitaminosis d	29.8	VDR PTH
18	sclerosing hepatic carcinoma	29.7	PTHLH PTH
19	hyperphosphatemia	29.7	VDR PTH CASR
20	parathyroid adenoma	29.6	VDR PTHLH PTH CASR CALCA
21	nephrolithiasis	29.5	VDR PTH CYP24A1 CASR
22	hypoadrenalism	29.5	PTHLH CALCA
23	multiple endocrine neoplasia, type i	29.4	PTH PRKAR1A CASR
24	nephrolithiasis, calcium oxalate	29.4	VDR CASR
25	secondary hyperparathyroidism of renal origin	29.3	VDR PTH CASR CALCA
26	paget's disease of bone	29.2	PTH CALCA
27	osteitis fibrosa	29.2	PTH CASR CALCA
28	renal osteodystrophy	29.2	VDR PTH CASR CALCA
29	hypophosphatemic rickets, x-linked recessive	29.2	VDR CYP24A1
30	kidney disease	29.1	VDR PTH CASR
31	pseudohypoparathyroidism	29.1	PTHLH PTH1R PTH
32	calciphylaxis	29.0	VDR PTH CASR
33	bone disease	28.8	VDR PTHLH PTH1R PTH CASR CALCA
34	osteomalacia	28.8	VDR PTH CYP24A1 CASR CALCA
35	chronic kidney failure	28.8	VDR PTH1R PTH CASR CALCA
36	parathyroid gland disease	28.6	VDR PTHLH PTH CASR CALCA
37	osteoporosis	28.2	VDR PTHLH PTH1R PTH PRKAR1A CYP24A1
38	idiopathic infantile hypercalcemia	12.6
39	blue diaper syndrome	12.0
40	hyperparathyroidism 2 with jaw tumors	11.4
41	myeloma, multiple	11.3
42	hypophosphatasia	11.3
43	rickets	11.3
44	hypophosphatasia, infantile	11.2
45	vipoma	11.2
46	williams-beuren syndrome	11.2
47	hypercalcemia, infantile, 2	11.1
48	hyperparathyroidism 1	10.9
49	intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies	10.9
50	hyperparathyroidism 4	10.9

Graphical network of the top 20 diseases related to Hypercalcemia, Infantile, 1:

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Symptoms & Phenotypes for Hypercalcemia, Infantile, 1

Symptoms via clinical synopsis from OMIM:

⁵⁷

Growth Other:
failure to thrive

Abdomen Gastrointestinal:
vomiting

Genitourinary Kidneys:
nephrocalcinosis
polyuria
nephrolithiasis (in some patients)

Muscle Soft Tissue:
hypotonia

Laboratory Abnormalities:
dehydration
hypercalciuria
hypercalcemia

Growth Weight:
weight loss

Neurologic Central Nervous System:
lethargy

Metabolic Features:
suppression of intact parathyroid hormone levels

Clinical features from OMIM:

143880

Human phenotypes related to Hypercalcemia, Infantile, 1:

³² (show all 17)

#	Description	HPO Frequency	HPO Source Accession
1	intellectual disability ³²		HP:0001249
2	failure to thrive ³²		HP:0001508
3	dehydration ³²		HP:0001944
4	vomiting ³²		HP:0002013
5	abnormality of the eye ³²		HP:0000478
6	weight loss ³²		HP:0001824
7	thick lower lip vermilion ³²		HP:0000179
8	hypercalciuria ³²		HP:0002150
9	nephrocalcinosis ³²		HP:0000121
10	nephrolithiasis ³²	occasional (7.5%)	HP:0000787
11	pulmonic stenosis ³²		HP:0001642
12	elfin facies ³²		HP:0004428
13	lethargy ³²		HP:0001254
14	generalized hypotonia ³²		HP:0001290
15	aortic valve stenosis ³²		HP:0001650
16	infantile hypercalcemia ³²		HP:0008250
17	polyuria ³²		HP:0000103

MGI Mouse Phenotypes related to Hypercalcemia, Infantile, 1:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	9.95	CASR CYP24A1 PRKAR1A PTH PTH1R PTHLH
2	endocrine/exocrine gland	MP:0005379	9.91	CASR PRKAR1A PTH PTH1R PTHLH VDR
3	craniofacial	MP:0005382	9.88	PRKAR1A PTH PTH1R PTHLH VDR
4	homeostasis/metabolism	MP:0005376	9.87	CASR CYP24A1 PRKAR1A PTH PTH1R PTHLH
5	digestive/alimentary	MP:0005381	9.85	CASR PRKAR1A PTH1R PTHLH VDR
6	hematopoietic system	MP:0005397	9.85	CASR PRKAR1A PTH PTH1R PTHLH VDR
7	immune system	MP:0005387	9.73	CASR PRKAR1A PTH PTH1R PTHLH VDR
8	mortality/aging	MP:0010768	9.5	CASR CYP24A1 PRKAR1A PTH PTH1R PTHLH
9	limbs/digits/tail	MP:0005371	9.46	PTH PTH1R PTHLH VDR
10	skeleton	MP:0005390	9.17	CASR CYP24A1 PRKAR1A PTH PTH1R PTHLH

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Drugs & Therapeutics for Hypercalcemia, Infantile, 1

Search Clinical Trials , NIH Clinical Center for Hypercalcemia, Infantile, 1

Inferred drug relations via UMLS ⁷³ / NDF-RT ⁵¹ :

calcitonin

edetic acid

edetic acid, disodium salt

edta tetrasodium

etidronate

etidronate disodium

gallium nitrate

pamidronate

pamidronate disodium

prednisone

prednisone pwdr

salmon calcitonin

zoledronic

zoledronic acid

Cochrane evidence based reviews: hypercalcemia

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Genetic Tests for Hypercalcemia, Infantile, 1

Genetic tests related to Hypercalcemia, Infantile, 1:

#	Genetic test	Affiliating Genes
1	Idiopathic Hypercalcemia of Infancy ²⁹	CYP24A1

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Anatomical Context for Hypercalcemia, Infantile, 1

MalaCards organs/tissues related to Hypercalcemia, Infantile, 1:

⁴¹

Lung, Kidney, Bone, Eye, Thyroid, T Cells, Myeloid

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Publications for Hypercalcemia, Infantile, 1

Articles related to Hypercalcemia, Infantile, 1:

(show all 20)

#	Title	Authors	Year
1	50 years ago in the Journal of Pediatrics: metabolic studies in a patient with idiopathic hypercalcemia of infancy. ( 23527844 )	Stanescu D.E....Levine M.A.	2013
2	Coarctation of the aorta with multiple artery anomalies in idiopathic hypercalcemia of infancy. ( 5378351 )	Bliddal J...Ottesen OE	1969
3	Idiopathic hypercalcemia of infancy with interruption of the aortic arch. ( 5661210 )	Harris LC...Nghiem QX	1968
4	A study of vitamin D metabolism in idiopathic hypercalcemia of infancy. ( 5972562 )	Manios SG...Antener I	1966
5	Idiopathic hypercalcemia of infancy: optic atrophy and other ocular changes. ( 5883818 )	Harley RD...Apt L	1965
6	IDIOPATHIC HYPERCALCEMIA OF INFANCY. ( 14284063 )	SIMMONS RL...HAWKINS BW	1965
7	IDIOPATHIC HYPERCALCEMIA OF INFANCY SIMULATING CONGENITAL HEART DISEASE. ( 14338463 )	BAUMAN A...BAUMAN CG	1965
8	Metabolic studies in a patient with idiopathic hypercalcemia of infancy. ( 14031980 )	KENNY FM...BLIZZARD RM	1963
9	Cardiac findings in idiopathic hypercalcemia of infancy. ( 13739645 )	RASHKIND WJ...ARCASOY M	1961
10	Idiopathic hypercalcemia of infancy. ( 14425916 )	NAKAO T...GOTOODA T	1960
11	Idiopathic hypercalcemia of infancy. ( 14428009 )	O'BRIEN D...SILVER HK	1960
12	Idiopathic hypercalcemia of infancy. ( 13645098 )	O'BRIEN D	1959
13	Idiopathic hypercalcemia of infancy and vitamin D metabolism. ( 13822111 )	FELLERS FX	1959
14	Idiopathic hypercalcemia of infancy: report of a case and a review of the literature. ( 13845201 )	WINEBERG JJ	1959
15	Idiopathic hypercalcemia of infancy. ( 13570850 )	SNYDER CH	1958
16	Severe idiopathic hypercalcemia of infancy. ( 13571500 )	FEINBERG SB...MARGULIS AR	1958
17	Etiology of the severe form of idiopathic hypercalcemia of infancy; a defect in vitamin D metabolism. ( 13600622 )	FELLERS FX...SCHWARTZ R	1958
18	Severe idiopathic hypercalcemia of infancy. ( 13408014 )	DAESCHNER GL...DAESCHNER CW	1957
19	The radiographic features of severe idiopathic hypercalcemia of infancy. ( 13441901 )	SINGLETON EB	1957
20	Idiopathic hypercalcemia of infancy, with failure to thrive; report of three cases, with a consideration of the possible etiology. ( 13483867 )	BONGIOVANNI AM...JONES IT	1957

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Genes for Hypercalcemia, Infantile, 1

Genes related to Hypercalcemia, Infantile, 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CYP24A1	Cytochrome P450 Family 24 Subfamily A Member 1	Protein Coding	1327.53	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	21675912 3490596 22047571 (more) 22047572
2	PTHLH	Parathyroid Hormone Like Hormone	Protein Coding	21.71	Novoseek inferred ⁵⁵	1424212 8453901 10660809 (more) 1434529 7955450 8790147 10338336 9040221 14613038 11104629 1782489 11747283 9413289 1346019 12576923 11774403 8537484 9643563 7880211 12399610 2320080 8712650 8406415 2394507 2348564 2293655 9623520 9309539 1280391 1322859 10420232 9758444 9362423 1700240 18614854 8287589 1997102 8627105 8428711 17360305 2347892 8019040 8412332 1469794 2224795 9660083 8030440 16239205 11925871 10898332 8641981 12365018 11573150 9853700 7596049 7535368 7849379 8107631 8277370 1624608 10048292 9370119 8969618 8961913 1480540 1371724 1911223 2316398 1967417 11506305 9422518 7572910 7910069 2048434 16006777 15345899 12893397 12611617 10637074 15251676 8604692 7769125 8060769 8295494 8445039 8433083 19168044 18480662 15256329 11737483 10737013 10522993 8746102 7923831 1319327 17188588 16482944 8352067 8453257
3	CASR	Calcium Sensing Receptor	Protein Coding	21.02	Novoseek inferred ⁵⁵	10468915 19694204 15241791 (more) 11857921 11013439 15579740 15879434 11668634 18787045 15347804 16882283 19789209 16596058 16603723 9039332 19073830 12521205 15963484 15588433 15572418 1302026 15200151 15662592 17853337 12519831 8813042 18328986 17473068 15241688 15064673 12412776 12412774 19953642 19389809 12469911 12173690 10023897 8934212 8597637 19615558 15356841 15338977 14641934 19355940 18796518 18525093 12580936 8815789 19580466 19423460 19179454 17974727 17217434 16491288 16147994 15292296 15269316 12970167 11762699 10971459 10885494 9915958 9920407 8965680 7717399 17320849 14715834 14696811 11889203 11161843 11095989 10199162 17372216 16649980 16598859 15548788 14714270 20164288 18296474 18175872 16497624 15559962 9109436
4	CALCA	Calcitonin Related Polypeptide Alpha	Protein Coding	20.15	Novoseek inferred ⁵⁵	17681097 16143533 2137363 (more) 11225473 9458321 17188588 12749663 8259844 1938595 1571826 8091766 1761142 2328745 12776255 10832449 2118785 16491288 14736909 7543127 1606583 8439262 8740333 11412402 9640227 2363727 7924003 12708052 15497514 17572525 7483054 7521833 8213878 1778237 1933616 1867260 2238625 2222097 17978858 9152296 7752486 8410467 8328411 8462348 1487889 1637574 1790647 19282478 19802031 20389108 19606248 18288984 12625112 15775628 7634618 8128979 8453860 14696811 11996631 10918435 9617323 8949352 8808222 8528347 8506902 8488334 2039258 2084927 18839218 18055485 16856000 1552188 2060148 2334172 17395337 16882790 15505994 11472896 10811300 10101452 10082449 8960013 8564993 1462441 1528131 1879049 2028833 8453509 2161790 19135828 17695305 17214344 16573443 15715044 15064673 17360305 16158612 15685444 16233137 11123497
5	PTH	Parathyroid Hormone	Protein Coding	20.12	Novoseek inferred ⁵⁵	1849762 16077176 1993319 (more) 10660809 17178702 7955450 11046116 17368185 16491288 9364360 1605164 10620210 16160737 7903311 12753275 12213894 10469275 1934478 12009004 8029686 1845254 15240651 2298168 16598859 9370119 7752469 17367404 15118272 8369362 12940896 1286527 1689222 12679445 10487664 7684395
6	PTH1R	Parathyroid Hormone 1 Receptor	Protein Coding	19.86	Novoseek inferred ⁵⁵	8855805 9213256 8579896 (more) 7797535 8156920 10912527 1660713 9447281 8823527 11346230 2166424
7	VDR	Vitamin D Receptor	Protein Coding	18.99	Novoseek inferred ⁵⁵	11033842 16528410 18180267 (more) 11562285 18689406 11117107 14594170 16101412 17914251 12231068 1315257
8	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	18.75	Novoseek inferred ⁵⁵	16882283 12519831 15579740 (more) 16649980 12580936 8783675 9329389 12412775 9719629 12161540 10402476 8853437 9101368 15200143

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Variations for Hypercalcemia, Infantile, 1

UniProtKB/Swiss-Prot genetic disease variations for Hypercalcemia, Infantile, 1:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	CYP24A1	p.Leu409Ser	VAR_048466	rs6068812
2	CYP24A1	p.Arg159Gln	VAR_066409	rs387907322
3	CYP24A1	p.Glu322Lys	VAR_066410	rs387907324
4	CYP24A1	p.Arg396Trp	VAR_066411	rs114368325

ClinVar genetic disease variations for Hypercalcemia, Infantile, 1:

⁶ (show all 20)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CYP24A1	NM_000782.4(CYP24A1): c.1426_1427delCT (p.Cys477Leufs)	deletion	Pathogenic	rs876657376	GRCh37	Chromosome 20, 52773934: 52773935
2	CYP24A1	NM_000782.4(CYP24A1): c.1426_1427delCT (p.Cys477Leufs)	deletion	Pathogenic	rs876657376	GRCh38	Chromosome 20, 54157395: 54157396
3	CYP24A1	NM_000782.4(CYP24A1): c.476G> A (p.Arg159Gln)	single nucleotide variant	Pathogenic	rs387907322	GRCh37	Chromosome 20, 52788183: 52788183
4	CYP24A1	NM_000782.4(CYP24A1): c.476G> A (p.Arg159Gln)	single nucleotide variant	Pathogenic	rs387907322	GRCh38	Chromosome 20, 54171644: 54171644
5	CYP24A1	NM_000782.4(CYP24A1): c.428_430delAAG (p.Glu143del)	deletion	Pathogenic	rs777676129	GRCh37	Chromosome 20, 52789467: 52789469
6	CYP24A1	NM_000782.4(CYP24A1): c.428_430delAAG (p.Glu143del)	deletion	Pathogenic	rs777676129	GRCh38	Chromosome 20, 54172928: 54172930
7	CYP24A1	NM_000782.4(CYP24A1): c.451G> T (p.Glu151Ter)	single nucleotide variant	Pathogenic	rs387907323	GRCh37	Chromosome 20, 52788208: 52788208
8	CYP24A1	NM_000782.4(CYP24A1): c.451G> T (p.Glu151Ter)	single nucleotide variant	Pathogenic	rs387907323	GRCh38	Chromosome 20, 54171669: 54171669
9	CYP24A1	NM_000782.4(CYP24A1): c.1186C> T (p.Arg396Trp)	single nucleotide variant	Pathogenic	rs114368325	GRCh37	Chromosome 20, 52774675: 52774675
10	CYP24A1	NM_000782.4(CYP24A1): c.1186C> T (p.Arg396Trp)	single nucleotide variant	Pathogenic	rs114368325	GRCh38	Chromosome 20, 54158136: 54158136
11	CYP24A1	NM_000782.4(CYP24A1): c.1226T> C (p.Leu409Ser)	single nucleotide variant	Pathogenic	rs6068812	GRCh37	Chromosome 20, 52774635: 52774635
12	CYP24A1	NM_000782.4(CYP24A1): c.1226T> C (p.Leu409Ser)	single nucleotide variant	Pathogenic	rs6068812	GRCh38	Chromosome 20, 54158096: 54158096
13	CYP24A1	NM_000782.4(CYP24A1): c.964G> A (p.Glu322Lys)	single nucleotide variant	Pathogenic	rs387907324	GRCh37	Chromosome 20, 52779282: 52779282
14	CYP24A1	NM_000782.4(CYP24A1): c.964G> A (p.Glu322Lys)	single nucleotide variant	Pathogenic	rs387907324	GRCh38	Chromosome 20, 54162743: 54162743
15	CYP24A1	NM_000782.4(CYP24A1): c.1039C> T (p.Gln347Ter)	single nucleotide variant	Likely pathogenic	rs777947329	GRCh38	Chromosome 20, 54159075: 54159075
16	CYP24A1	NM_000782.4(CYP24A1): c.1039C> T (p.Gln347Ter)	single nucleotide variant	Likely pathogenic	rs777947329	GRCh37	Chromosome 20, 52775614: 52775614
17	CYP24A1	NM_000782.4(CYP24A1): c.552C> T (p.Ala184=)	single nucleotide variant	Benign	rs2296241	GRCh37	Chromosome 20, 52786219: 52786219
18	CYP24A1	NM_000782.4(CYP24A1): c.552C> T (p.Ala184=)	single nucleotide variant	Benign	rs2296241	GRCh38	Chromosome 20, 54169680: 54169680
19	CASR	NM_000388.3(CASR): c.2449G> A (p.Val817Ile)	single nucleotide variant	Likely pathogenic	rs1057518933	GRCh37	Chromosome 3, 122003250: 122003250
20	CASR	NM_000388.3(CASR): c.2449G> A (p.Val817Ile)	single nucleotide variant	Likely pathogenic	rs1057518933	GRCh38	Chromosome 3, 122284403: 122284403

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Expression for Hypercalcemia, Infantile, 1

Search GEO for disease gene expression data for Hypercalcemia, Infantile, 1.

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Pathways for Hypercalcemia, Infantile, 1

Pathways related to Hypercalcemia, Infantile, 1 according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	Steroid biosynthesis	hsa00100

Pathways related to Hypercalcemia, Infantile, 1 according to GeneCards Suite gene sharing:

(show all 12)

#	Super pathways	Score	Top Affiliating Genes
1	Peptide ligand-binding receptors ⁶⁶ Show member pathways Class A/1 (Rhodopsin-like receptors) ⁶⁶ Defective AVP causes neurohypophyseal diabetes insipidus (NDI) ⁶⁶ Formyl peptide receptors bind formyl peptides and many other ligands ⁶⁶ G alpha (i) signalling events ⁶⁶ GPCR ligand binding ⁶⁶ GPCRs, Class A Rhodopsin-like ¹ Neuroactive ligand-receptor interaction ³⁷ Orexin and neuropeptides FF and QRFP bind to their respective receptors ⁶⁶ Peptide GPCRs ¹ Tachykinin receptors bind tachykinins ⁶⁶ Vasopressin-like receptors ⁶⁶	13.16	CALCA CASR PTH PTH1R PTHLH
2	Presynaptic function of Kainate receptors ⁶⁶ Show member pathways Activation of Ca-permeable Kainate Receptor ⁶⁶ Activation of Kainate Receptors upon glutamate binding ⁶⁶ Activation of Na-permeable Kainate Receptors ⁶⁶ Calcitonin-like ligand receptors ⁶⁶ Class B/2 (Secretin family receptors) ⁶⁶ G beta-gamma signalling through PLC beta ⁶⁶ Glucagon-type ligand receptors ⁶⁶ G-Protein Signaling through Tubby Protein ⁶⁴ Ionotropic activity of Kainate Receptors ⁶⁶	12.07	CALCA PTH PTH1R PTHLH
3	G alpha (s) signalling events ⁶⁶	11.79	CALCA PTH PTH1R PTHLH
4	Ca, cAMP and Lipid Signaling ⁴	11.71	CASR PRKAR1A VDR
5	Endochondral Ossification ¹	11.39	PTH PTH1R PTHLH
6	Transcription_Role of VDR in regulation of genes involved in osteoporosis ²²	11.21	CALCA CYP24A1 PTH PTH1R VDR
7	Endocrine and other factor-regulated calcium reabsorption ³⁷	11.18	PTH1R VDR
8	Parathyroid hormone synthesis, secretion and action ³⁷	11.13	CASR CYP24A1 PTH PTH1R PTHLH VDR
9	Nuclear Receptors in Lipid Metabolism and Toxicity ¹	11.02	CYP24A1 VDR
10	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	10.94	PRKAR1A PTH PTH1R PTHLH VDR
11	Osteoblast Signaling ¹	10.6	PTH PTH1R
12	Vitamin D Metabolism ¹	10.43	CYP24A1 PTH VDR

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GO Terms for Hypercalcemia, Infantile, 1

Biological processes related to Hypercalcemia, Infantile, 1 according to GeneCards Suite gene sharing:

(show all 18)

#	Name	GO ID	Score	Top Affiliating Genes
1	G protein-coupled receptor signaling pathway	GO:0007186	9.88	CALCA CASR PTH PTH1R PTHLH
2	negative regulation of cell proliferation	GO:0008285	9.75	PTH1R PTHLH VDR
3	cell-cell signaling	GO:0007267	9.73	CALCA PTH PTHLH
4	phospholipase C-activating G protein-coupled receptor signaling pathway	GO:0007200	9.57	CASR PTH1R
5	bone resorption	GO:0045453	9.55	PTH PTH1R
6	response to vitamin D	GO:0033280	9.54	CYP24A1 PTH
7	vasodilation	GO:0042311	9.52	CALCA CASR
8	osteoblast development	GO:0002076	9.51	PTH1R PTHLH
9	negative regulation of chondrocyte differentiation	GO:0032331	9.49	PTH PTHLH
10	vitamin D metabolic process	GO:0042359	9.46	CYP24A1 VDR
11	skeletal system development	GO:0001501	9.46	PTH PTH1R PTHLH VDR
12	positive regulation of inositol phosphate biosynthetic process	GO:0060732	9.43	PTH PTH1R
13	bone mineralization	GO:0030282	9.43	PTH PTH1R PTHLH
14	response to fibroblast growth factor	GO:0071774	9.4	CASR PTH
15	cAMP metabolic process	GO:0046058	9.37	PTH PTHLH
16	vitamin D receptor signaling pathway	GO:0070561	9.32	CYP24A1 VDR
17	adenylate cyclase-activating G protein-coupled receptor signaling pathway	GO:0007189	9.26	CALCA PTH PTH1R PTHLH
18	cellular calcium ion homeostasis	GO:0006874	9.02	CALCA CASR PTH PTH1R VDR

Molecular functions related to Hypercalcemia, Infantile, 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	peptide hormone receptor binding	GO:0051428	8.96	PTH PTHLH
2	hormone activity	GO:0005179	8.8	CALCA PTH PTHLH

Sources

Sources for Hypercalcemia, Infantile, 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Hypercalcemia, Infantile, 1 (HCINF1)

Aliases & Classifications for Hypercalcemia, Infantile, 1

MalaCards integrated aliases for Hypercalcemia, Infantile, 1:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Hypercalcemia, Infantile, 1

Related Diseases for Hypercalcemia, Infantile, 1

Diseases in the Hypercalcemia, Infantile, 1 family:

Diseases related to Hypercalcemia, Infantile, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Hypercalcemia, Infantile, 1:

Symptoms & Phenotypes for Hypercalcemia, Infantile, 1

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Hypercalcemia, Infantile, 1:

MGI Mouse Phenotypes related to Hypercalcemia, Infantile, 1:

Drugs & Therapeutics for Hypercalcemia, Infantile, 1

Inferred drug relations via UMLS 73 / NDF-RT 51 :

Cochrane evidence based reviews: hypercalcemia

Genetic Tests for Hypercalcemia, Infantile, 1

Genetic tests related to Hypercalcemia, Infantile, 1:

Anatomical Context for Hypercalcemia, Infantile, 1

MalaCards organs/tissues related to Hypercalcemia, Infantile, 1:

Publications for Hypercalcemia, Infantile, 1

Articles related to Hypercalcemia, Infantile, 1:

Genes for Hypercalcemia, Infantile, 1

Genes related to Hypercalcemia, Infantile, 1 (1 elite genes):

Variations for Hypercalcemia, Infantile, 1

UniProtKB/Swiss-Prot genetic disease variations for Hypercalcemia, Infantile, 1:

ClinVar genetic disease variations for Hypercalcemia, Infantile, 1:

Expression for Hypercalcemia, Infantile, 1

Pathways for Hypercalcemia, Infantile, 1

Pathways related to Hypercalcemia, Infantile, 1 according to KEGG:

Pathways related to Hypercalcemia, Infantile, 1 according to GeneCards Suite gene sharing:

GO Terms for Hypercalcemia, Infantile, 1

Biological processes related to Hypercalcemia, Infantile, 1 according to GeneCards Suite gene sharing:

Molecular functions related to Hypercalcemia, Infantile, 1 according to GeneCards Suite gene sharing:

Sources for Hypercalcemia, Infantile, 1

Inferred drug relations via UMLS ⁷³ / NDF-RT ⁵¹ :