HHC2
MCID: HYP753
MIFTS: 37

Hypocalciuric Hypercalcemia, Familial, Type Ii (HHC2)

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

Aliases & Classifications for Hypocalciuric Hypercalcemia, Familial, Type Ii

MalaCards integrated aliases for Hypocalciuric Hypercalcemia, Familial, Type Ii:

Name: Hypocalciuric Hypercalcemia, Familial, Type Ii 57 29 6 72
Hypocalciuric Hypercalcemia, Type Ii 57 29 13 40
Hhc2 57 12 53 74
Familial Hypocalciuric Hypercalcemia Type 2 12 53 59
Fbh2 57 53 74
Familial Hypocalciuric Hypercalcemia 2 12 15
Fhh Type 2 12 59
Hypocalciuric Hypercalcemia, Familial, Type 2 53
Familial Benign Hypercalcemia, Type Ii; Fbh2 57
Hypercalcemia, Familial Benign, Type Ii 57
Hypocalciuric Hypercalcemia, Familial 2 74
Familial Benign Hypercalcemia, Type Ii 57
Familial Benign Hypercalcemia, Type 2 53
Hypercalcemia, Familial Benign Type 2 53
Familial Benign Hypercalcemia Type Ii 74
Hypocalciuric Hypercalcemia Type Ii 12

Characteristics:

Orphanet epidemiological data:

59
familial hypocalciuric hypercalcemia type 2
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant with locus heterogeneity (19p13.3)


HPO:

32
hypocalciuric hypercalcemia, familial, type ii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060701
MeSH 44 D006934
ICD10 33 E83.5
MESH via Orphanet 45 C537146
ICD10 via Orphanet 34 E83.5
UMLS via Orphanet 73 C1840347 C2931427
Orphanet 59 ORPHA101049
MedGen 42 C1840347
UMLS 72 C1840347

Summaries for Hypocalciuric Hypercalcemia, Familial, Type Ii

UniProtKB/Swiss-Prot : 74 Hypocalciuric hypercalcemia, familial 2: 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, Familial, Type Ii, also known as hypocalciuric hypercalcemia, type ii, is related to familial hypocalciuric hypercalcemia and hyperparathyroidism, neonatal severe. An important gene associated with Hypocalciuric Hypercalcemia, Familial, Type Ii is GNA11 (G Protein Subunit Alpha 11), and among its related pathways/superpathways are fMLP Pathway and Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include bone, and related phenotypes are nephrolithiasis and peptic ulcer

Disease Ontology : 12 A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.

More information from OMIM: 145981 PS145980

Related Diseases for Hypocalciuric Hypercalcemia, Familial, Type Ii

Diseases in the Familial Hypocalciuric Hypercalcemia family:

Hypocalciuric Hypercalcemia, Familial, Type I Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypocalciuric Hypercalcemia, Familial, Type Iii

Diseases related to Hypocalciuric Hypercalcemia, Familial, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 familial hypocalciuric hypercalcemia 30.9 PTH GNA11 CASR AP2S1
2 hyperparathyroidism, neonatal severe 11.3
3 dyschromatosis universalis hereditaria 10.1 MAPK3 GNA11
4 chondrocalcinosis 10.1 GNA11 CASR AP2S1
5 pseudopseudohypoparathyroidism 10.0 PTH GNA11
6 uveal disease 10.0 PAX6 GNA11
7 hypoparathyroidism, familial isolated 9.9 PTH CASR
8 hypoparathyroidism 9.9 PTH CASR
9 calciphylaxis 9.9 PTH CASR
10 osteitis fibrosa 9.9 PTH CASR
11 hypercalcemia, infantile, 1 9.9 PTH CASR
12 familial isolated hyperparathyroidism 9.9 PTH CASR
13 phosphorus metabolism disease 9.9 PTH CASR
14 secondary hyperparathyroidism of renal origin 9.9 PTH CASR
15 metal metabolism disorder 9.8 PTH CASR
16 parathyroid gland disease 9.8 PTH CASR
17 renal osteodystrophy 9.8 PTH CASR
18 mineral metabolism disease 9.8 PTH CASR
19 alcoholic liver cirrhosis 9.8 ADH4 ADH1B
20 parathyroid carcinoma 9.7 PTH CASR
21 osteomalacia 9.7 PTH CASR
22 hypocalcemia, autosomal dominant 1 9.6 PTH GNA11 CASR
23 hyperphosphatemia 9.6 PTH CASR
24 hypocalciuric hypercalcemia, familial, type i 9.3 PTH GNA11 CASR AP2S1
25 hypocalciuric hypercalcemia, familial, type iii 9.3 PTH GNA11 CASR AP2S1
26 parathyroid adenoma 9.3 PTH CASR

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



Diseases related to Hypocalciuric Hypercalcemia, Familial, Type Ii

Symptoms & Phenotypes for Hypocalciuric Hypercalcemia, Familial, Type Ii

Human phenotypes related to Hypocalciuric Hypercalcemia, Familial, Type Ii:

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

Symptoms via clinical synopsis from OMIM:

57
Radiology:
chondrocalcinosis

Lab:
hypercalcemia
hypermagnesemia
hypocalciuria
parathormone-independent renal tubular calcium reabsorption defect
ratio of renal calcium clearance to creatinine clearance usually below 0.01
more
G U:
nephrolithiasis uncommon

G I:
pancreatitis
peptic ulcer uncommon

Skin:
lipomas

Misc:
neonatal severe primary hyperparathyroidism in homozygotes
(e.g. hypocalciuric hypercalcemia, familial .0002)

Clinical features from OMIM:

145981

Drugs & Therapeutics for Hypocalciuric Hypercalcemia, Familial, Type Ii

Search Clinical Trials , NIH Clinical Center for Hypocalciuric Hypercalcemia, Familial, Type Ii

Genetic Tests for Hypocalciuric Hypercalcemia, Familial, Type Ii

Genetic tests related to Hypocalciuric Hypercalcemia, Familial, Type Ii:

# Genetic test Affiliating Genes
1 Hypocalciuric Hypercalcemia, Familial, Type Ii 29 GNA11
2 Hypocalciuric Hypercalcemia, Type Ii 29

Anatomical Context for Hypocalciuric Hypercalcemia, Familial, Type Ii

MalaCards organs/tissues related to Hypocalciuric Hypercalcemia, Familial, Type Ii:

41
Bone

Publications for Hypocalciuric Hypercalcemia, Familial, Type Ii

Articles related to Hypocalciuric Hypercalcemia, Familial, Type Ii:

# Title Authors PMID Year
1
Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. 8 71
23802516 2013
2
Genetic linkage analysis in familial benign hypercalcemia using a candidate gene strategy. I. Studies in four families. 8 71
1517376 1992
3
Identification and functional characterization of loss-of-function mutations of the calcium-sensing receptor in four Italian kindreds with familial hypocalciuric hypercalcemia. 71
19073830 2009
4
Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population. 71
17698911 2007
5
Identification and analysis of conserved cis-regulatory regions of the MEIS1 gene. 38
22448256 2012

Variations for Hypocalciuric Hypercalcemia, Familial, Type Ii

ClinVar genetic disease variations for Hypocalciuric Hypercalcemia, Familial, Type Ii:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GNA11 NM_002067.5(GNA11): c.595_597ATC[1] (p.Ile200del) short repeat Pathogenic rs672601249 19:3115063-3115065 19:3115065-3115067
2 GNA11 NM_002067.5(GNA11): c.404T> A (p.Leu135Gln) single nucleotide variant Pathogenic rs587777019 19:3113410-3113410 19:3113412-3113412

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

74
# Symbol AA change Variation ID SNP ID
1 GNA11 p.Leu135Gln VAR_070166 rs587777019

Expression for Hypocalciuric Hypercalcemia, Familial, Type Ii

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

Pathways for Hypocalciuric Hypercalcemia, Familial, Type Ii

GO Terms for Hypocalciuric Hypercalcemia, Familial, Type Ii

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

# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 9.33 PTH PAX6 MAPK3
2 negative regulation of neuron differentiation GO:0045665 9.26 PAX6 MEIS1
3 ethanol oxidation GO:0006069 8.96 ADH4 ADH1B
4 response to fibroblast growth factor GO:0071774 8.62 PTH CASR

Molecular functions related to Hypocalciuric Hypercalcemia, Familial, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 alcohol dehydrogenase activity, zinc-dependent GO:0004024 8.62 ADH4 ADH1B

Sources for Hypocalciuric Hypercalcemia, Familial, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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