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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Hypercalcemia (D006934)
Parent Node: Infant, Newborn, Diseases (D007232)
Parent Node: Metabolism, Inborn Errors (D008661)
..Starting node ..Hypercalcemia, Idiopathic, of Infancy (C562581)
Child Nodes:
Sister Nodes:
..3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)
..3-Hydroxyacyl-CoA Dehydrogenase Deficiency (C535310)
..3-Methylglutaconic Aciduria (C579867)
..3-Methylglutaconic Aciduria Type IV (C565393)
..3-Methylglutaconic Aciduria, Type I (C562801)
..3-Methylglutaconic Aciduria, Type V (C565706)
..5-Nucleotidase syndrome (C535321)
..6-Phosphogluconolactonase Deficiency (C566803)
..Acetylcarnitine deficiency (C536006)
..Acholinesterasemia (C566750)
..Acid Phosphatase Deficiency (C562645)
..Adenine phosphoribosyltransferase deficiency (C538228)
..AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY (OMIM:608688)
..alpha-Fetoprotein Deficiency (C566300)
..Amino Acid Metabolism, Inborn Errors (D000592) 169
..Amino Acid Transport Disorders, Inborn (D020157) 3
..Amobarbital, Deficient N-Hydroxylation of (C565959)
..Amyloidosis, Familial (D028226) 13
..Arene Oxide Detoxification Defect (C565043)
..Aromatase deficiency (C537436)
..Aryl Hydrocarbon Hydroxylase Inducibility (C566250)
..BISPHOSPHOGLYCERATE MUTASE DEFICIENCY (OMIM:222800)
..Brain Diseases, Metabolic, Inborn (D020739) 218
..Butyrylcholinesterase deficiency (C537417)
..Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type (C566751)
..Carbohydrate Metabolism, Inborn Errors (D002239) 169
..Carnitine Acetyltransferase Deficiency (C563249)
..Carnitine palmitoyl transferase 2 deficiency (C535589)
..Chromate Resistance (C566125)
..COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
..Combined Malonic and Methylmalonic Aciduria (C580002)
..Combined Oxidative Phosphorylation Deficiency 1 (C563797)
..Combined Oxidative Phosphorylation Deficiency 4 (C565690)
..Combined Oxidative Phosphorylation Deficiency 5 (C567126)
..Congenital chloride diarrhea (C536210)
..Copper deficiency, familial benign (C535468)
..Costeff optic atrophy syndrome (C535311)
..Coumarin Resistance (C563039)
..Coumarin Sensitivity (C567276)
..CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
..Cytochrome-c Oxidase Deficiency (D030401) 2
..Deafness hyperuricemia neurologic ataxia (C535995)
..Deoxyribose-5-Phosphate Aldolase Deficiency (C565112)
..Diarrhea 3, Secretory Sodium, Congenital (C562576)
..Diarrhea 3, Secretory Sodium, Congenital, Syndromic (C567490)
..Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency (C565099)
..Dihydropyrimidinase Deficiency (C562815)
..Diphenylhydantoin, Defect in Hydroxylation of (C565044)
..Drug Metabolism, Poor, CYP2C19-Related (C563703)
..Drug Metabolism, Poor, CYP2D6-Related (C563835)
..Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..Enterokinase Deficiency (C562649)
..Ethanolaminosis (C562651)
..Familial gynecomastia, due to increased aromatase activity (C000591739)
..Finnish lethal neonatal metabolic syndrome (C537934)
..Fumaric aciduria (C538191)
..Glucocorticoid Receptor Deficiency (C564221)
..Glutamate formiminotransferase deficiency (C537425)
..Glycoprotein Storage Disease (C565538)
..Glyoxalase II Deficiency (C564215)
..Growth Factors, Combined Defect of (C565529)
..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
..Hyaluronan Metabolism, Defect in (C565742)
..Hyperbilirubinemia, Hereditary (D006933) 7
..Hypercalcemia, Idiopathic, of Infancy (C562581)
..HYPERCHLORHIDROSIS, ISOLATED (OMIM:143860)
..Hypoadiponectinemia (C567258)
..Hypokalemia, Familial (C562654)
..Hypoproteinemia, Hypercatabolic (C565476)
..Inosine Triphosphatase Deficiency (C564127)
..Intrinsic Factor and R Binder, Combined Congenital Deficiency of (C565461)
..Kallikrein, Decreased Urinary Activity of (C563653)
..L-Gulonolactone Oxidase, Nonfunctional (C565486)
..Lactate Dehydrogenase B Deficiency (C563641)
..Lactic Aciduria due to D-Lactic Acid (C565446)
..Leukotriene C4 Synthase Deficiency (C565439)
..Lipid Metabolism, Inborn Errors (D008052) 135
..LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:609016)
..Lysosomal Storage Diseases (D016464) 106
..Malonic aciduria (C535702)
..Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type (C563601)
..Mannose-Binding Protein Deficiency (C563602)
..Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..Metal Metabolism, Inborn Errors (D008664) 55
..Methemoglobin Reductase Deficiency (C563171)
..Methylcobalamin Deficiency, CblG Type (C565394)
..Methylmalonyl-Coenzyme A mutase deficiency (C537573)
..Mitochondrial Complex II Deficiency (C565375)
..Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624)
..Myeloperoxidase Deficiency (C562864)
..N acetyltransferase deficiency (C536107)
..Pancreatic Insufficiency, Combined Exocrine (C564907)
..Peroxisomal Disorders (D018901) 39
..Phenacetin O-Deethylase, Deficiency of (C565127)
..Phenol sulfotransferase deficiency (C537895)
..Phosphoglycerate Kinase 1 Deficiency (C567067)
..Porphyrias (D011164) 18
..Progeria (D011371) 11
..Proguanil, Poor Metabolism of (C563704)
..Purine-Pyrimidine Metabolism, Inborn Errors (D011686) 24
..Renal Tubular Transport, Inborn Errors (D015499) 76
..Retinol-Binding Protein Deficiency (C566711)
..Steroid Metabolism, Inborn Errors (D043202) 34
..Stomatocytosis I (C566111)
..Stomatocytosis II (C566110)
..Succinic Acidemia (C563952)
..THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
..Transcobalamin I Deficiency (C562798)
..Trimethylaminuria (C536561)
..Warfarin Sensitivity (C567080)
..Weinstein Kliman Scully syndrome (C536688)
..Wiedemann Oldigs Oppermann syndrome (C536705)
..Xanthinuria, Type I (C562584)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5347

Name:

Hypercalcemia, Idiopathic, of Infancy

Definition:

Alternative IDs:

ParentIDs:

MESH:D006934|MESH:D007232|MESH:D008661

TreeNumbers:

C16.320.565/C562581 |C16.614/C562581 |C18.452.174.451/C562581 |C18.452.648/C562581 |C18.452.950.340/C562581

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Infant-newborn disease|Metabolic disease

Reference:

MedGen: C562581
MeSH: C562581
OMIM: 143880;

Genes: CYP24A1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0000478	Abnormality of the eye
4	HP:0001650	Aortic valve stenosis
5	HP:0001944	Dehydration
6	HP:0004428	Elfin facies
7	HP:0001508	Failure to thrive
8	HP:0001290	Generalized hypotonia
9	HP:0002150	Hypercalciuria
10	HP:0008250	Infantile hypercalcemia
11	HP:0001249	Intellectual disability
12	HP:0001254	Lethargy
13	HP:0000121	Nephrocalcinosis
14	HP:0000787	Nephrolithiasis	HP:0040283
15	HP:0000103	Polyuria
16	HP:0001642	Pulmonic stenosis
17	HP:0000179	Thick lower lip vermilion
18	HP:0002013	Vomiting
19	HP:0001824	Weight loss

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000782.4(CYP24A1):c.1226T>C (p.Leu409Ser)	1591	CYP24A1	Pathogenic	6068812	RCV000033210;	N	MedGen:C0268080,OMIM:143880,ORPHA:300547,SNOMED CT:34225008	20	52774635	52774635	NM_000782.4:c.1226T>C	NP_000773.2:p.Leu409Ser	NC_000020.10:g.52774635A>G	OMIM Allelic Variant:126065.0006	C0268080 143880 Idiopathic hypercalcemia of infancy
NM_000782.4(CYP24A1):c.1186C>T (p.Arg396Trp)	1591	CYP24A1	Pathogenic	114368325	RCV000022528;	N	MedGen:C0268080,OMIM:143880,ORPHA:300547,SNOMED CT:34225008	20	52774675	52774675	NM_000782.4:c.1186C>T	NP_000773.2:p.Arg396Trp	NC_000020.10:g.52774675G>A	OMIM Allelic Variant:126065.0005	C0268080 143880 Idiopathic hypercalcemia of infancy
NM_000782.4(CYP24A1):c.1039C>T (p.Gln347Ter)	1591	CYP24A1	Likely pathogenic	777947329	RCV000190576;	N	MedGen:C0268080,OMIM:143880,ORPHA:300547,SNOMED CT:34225008	20	52775614	52775614	NM_000782.4:c.1039C>T	NP_000773.2:p.Gln347Ter	NC_000020.10:g.52775614G>A	-	C0268080 143880 Idiopathic hypercalcemia of infancy
NM_000782.4(CYP24A1):c.964G>A (p.Glu322Lys)	1591	CYP24A1	Pathogenic	387907324	RCV000033211;	N	MedGen:C0268080,OMIM:143880,ORPHA:300547,SNOMED CT:34225008	20	52779282	52779282	NM_000782.4:c.964G>A	NP_000773.2:p.Glu322Lys	NC_000020.10:g.52779282C>T	OMIM Allelic Variant:126065.0007	C0268080 143880 Idiopathic hypercalcemia of infancy
NM_000782.4(CYP24A1):c.476G>A (p.Arg159Gln)	1591	CYP24A1	Pathogenic	387907322	RCV000033205;	N	MedGen:C0268080,OMIM:143880,ORPHA:300547,SNOMED CT:34225008	20	52788183	52788183	NM_000782.4:c.476G>A	NP_000773.2:p.Arg159Gln	NC_000020.10:g.52788183C>T	OMIM Allelic Variant:126065.0004	C0268080 143880 Idiopathic hypercalcemia of infancy
NM_000782.4(CYP24A1):c.451G>T (p.Glu151Ter)	1591	CYP24A1	Pathogenic	387907323	RCV000033209;	N	MedGen:C0268080,OMIM:143880,ORPHA:300547,SNOMED CT:34225008	20	52788208	52788208	NM_000782.4:c.451G>T	NP_000773.2:p.Glu151Ter	NC_000020.10:g.52788208C>A	OMIM Allelic Variant:126065.0003	C0268080 143880 Idiopathic hypercalcemia of infancy