MCID: HYP725
MIFTS: 38

Hypocalciuric Hypercalcemia, Type Iii

Categories: Genetic diseases, Rare diseases, Respiratory diseases, Bone diseases, Endocrine diseases, Fetal diseases, Metabolic diseases

Aliases & Classifications for Hypocalciuric Hypercalcemia, Type Iii

MalaCards integrated aliases for Hypocalciuric Hypercalcemia, Type Iii:

Name: Hypocalciuric Hypercalcemia, Type Iii 54
Familial Hypocalciuric Hypercalcemia Type 3 12 50 24 56
Hypocalciuric Hypercalcemia, Familial, Type Iii 29 13 69
Hhc3 12 50 71
Familial Hypocalciuric Hypercalcemia 3 12 14
Hypocalciuric Hypercalcemia Type Iii 12 71
Fhh Type 3 12 56
Fbh3 50 71
Familial Benign Hypercalcemia, Oklahoma Variant 50
Hypercalcemia, Familial Benign, Oklahoma Type 50
Hypocalciuric Hypercalcemia, Familial, Type 3 50
Familial Hypocalciuric Hypercalcemia Type Iii 24
Familial Benign Hypocalciuric Hypercalcemia 3 71
Familial Benign Hypercalcemia Oklahoma Type 71
Hypocalciuric Hypercalcemia, Familial 3 71
Hypercalcemia, Familial Benign, Type 3 50
Familial Benign Hypercalcemia, Type 3 50
Familial Benign Hypercalcemia 3 71
Fbhok 50
Fbhh3 71
Fhh3 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
variable skeletal features may be present
hypercalcemia appears as early as 1.5 years of age
serum pth increases with age and is above the normal range by age 30 years


Classifications:



External Ids:

OMIM 54 600740
Disease Ontology 12 DOID:0060702
ICD10 33 E83.5
Orphanet 56 ORPHA101050
MESH via Orphanet 43 C537147
UMLS via Orphanet 70 C1833372
ICD10 via Orphanet 34 E83.5
MedGen 40 C1833372
MeSH 42 D006934

Summaries for Hypocalciuric Hypercalcemia, Type Iii

UniProtKB/Swiss-Prot : 71 Hypocalciuric hypercalcemia, familial 3: A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults.

MalaCards based summary : Hypocalciuric Hypercalcemia, Type Iii, also known as familial hypocalciuric hypercalcemia type 3, is related to familial hypocalciuric hypercalcemia and neuroendocrine tumor, and has symptoms including nephrolithiasis, pancreatitis and hypercalcemia. An important gene associated with Hypocalciuric Hypercalcemia, Type Iii is AP2S1 (Adaptor Related Protein Complex 2 Sigma 1 Subunit), and among its related pathways/superpathways are Ca, cAMP and Lipid Signaling and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. The drugs Somatostatin and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include bone and liver, and related phenotype is endocrine/exocrine gland.

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on familial hypocalciuric hypercalcemia.

Disease Ontology : 12 A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the AP2S1 gene on chromosome 19q13.

Description from OMIM: 600740

Related Diseases for Hypocalciuric Hypercalcemia, Type Iii

Graphical network of the top 20 diseases related to Hypocalciuric Hypercalcemia, Type Iii:



Diseases related to Hypocalciuric Hypercalcemia, Type Iii

Symptoms & Phenotypes for Hypocalciuric Hypercalcemia, Type Iii

Symptoms via clinical synopsis from OMIM:

54

Skeletal:
bone pain
osteomalacia
chondrocalcinosis
pseudofracture

Neurologic- Behavioral Psychiatric Manifestations:
depression (in some patients)
fatigue (in some patients)

Muscle Soft Tissue:
muscle weakness (in some patients)
periarticular calcifications (in some patients)

Endocrine Features:
elevated serum parathyroid hormone (pth) levels
parathyroid gland unremarkable on ultrasound
parathyroid tissue unremarkable on biopsy

Laboratory- Abnormalities:
hypercalcemia
hypocalciuria
hypophosphatemia, mild
hypermagnesemia, mild

Genitourinary- Kidneys:
renal failure (rare)
medullary cystic disease (rare)

Neurologic- Central Nervous System:
headaches (in some patients)


Clinical features from OMIM:

600740

Human phenotypes related to Hypocalciuric Hypercalcemia, Type Iii:

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 nephrolithiasis 32 occasional (7.5%) HP:0000787
2 pancreatitis 32 HP:0001733
3 hypercalcemia 32 HP:0003072
4 primary hyperparathyroidism 32 HP:0008200
5 hypocalciuria 32 HP:0003127
6 hypermagnesemia 32 HP:0002918
7 chondrocalcinosis 32 HP:0000934
8 peptic ulcer 32 occasional (7.5%) HP:0004398
9 multiple lipomas 32 HP:0001012
10 parathormone-independent increased renal tubular calcium reabsorption 32 HP:0003529

UMLS symptoms related to Hypocalciuric Hypercalcemia, Type Iii:


bone pain

MGI Mouse Phenotypes related to Hypocalciuric Hypercalcemia, Type Iii:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 8.92 CASR FANCD2 GNA11 PTHLH

Drugs & Therapeutics for Hypocalciuric Hypercalcemia, Type Iii

Drugs for Hypocalciuric Hypercalcemia, Type Iii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Somatostatin Approved 38916-34-6, 51110-01-1 53481605
2 Calcium, Dietary
3 insulin
4 Insulin, Globin Zinc
5 Liver Extracts

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Lipid and Glycogen Metabolism in Patients With Impaired Glucose Tolerance and Calcium Sensing Receptor Mutations Recruiting NCT02023489

Search NIH Clinical Center for Hypocalciuric Hypercalcemia, Type Iii

Genetic Tests for Hypocalciuric Hypercalcemia, Type Iii

Genetic tests related to Hypocalciuric Hypercalcemia, Type Iii:

id Genetic test Affiliating Genes
1 Hypocalciuric Hypercalcemia, Familial, Type Iii 29
2 Familial Hypocalciuric Hypercalcemia Type Iii 24 AP2S1

Anatomical Context for Hypocalciuric Hypercalcemia, Type Iii

MalaCards organs/tissues related to Hypocalciuric Hypercalcemia, Type Iii:

39
Bone, Liver

Publications for Hypocalciuric Hypercalcemia, Type Iii

Variations for Hypocalciuric Hypercalcemia, Type Iii

UniProtKB/Swiss-Prot genetic disease variations for Hypocalciuric Hypercalcemia, Type Iii:

71
id Symbol AA change Variation ID SNP ID
1 AP2S1 p.Arg15Cys VAR_069570 rs397514498
2 AP2S1 p.Arg15His VAR_069571 rs397514499
3 AP2S1 p.Arg15Leu VAR_069572 rs397514499

ClinVar genetic disease variations for Hypocalciuric Hypercalcemia, Type Iii:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 AP2S1 NM_004069.4(AP2S1): c.43C> T (p.Arg15Cys) single nucleotide variant Pathogenic rs397514498 GRCh37 Chromosome 19, 47349360: 47349360
2 AP2S1 NM_004069.4(AP2S1): c.44G> T (p.Arg15Leu) single nucleotide variant Pathogenic rs397514499 GRCh37 Chromosome 19, 47349359: 47349359
3 AP2S1 NM_004069.4(AP2S1): c.44G> A (p.Arg15His) single nucleotide variant Pathogenic rs397514499 GRCh37 Chromosome 19, 47349359: 47349359

Expression for Hypocalciuric Hypercalcemia, Type Iii

Search GEO for disease gene expression data for Hypocalciuric Hypercalcemia, Type Iii.

Pathways for Hypocalciuric Hypercalcemia, Type Iii

Pathways related to Hypocalciuric Hypercalcemia, Type Iii according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.05 CASR GNA11
2 10.21 GNA11 PTHLH

GO Terms for Hypocalciuric Hypercalcemia, Type Iii

Biological processes related to Hypocalciuric Hypercalcemia, Type Iii according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 8.62 GNA11 PTHLH

Sources for Hypocalciuric Hypercalcemia, Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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