HHC2
MCID: HYP753
MIFTS: 38

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 56 29 6 71
Hypocalciuric Hypercalcemia, Type Ii 56 29 13 39
Hhc2 56 12 52 73
Familial Hypocalciuric Hypercalcemia Type 2 12 52 58
Fbh2 56 52 73
Familial Hypocalciuric Hypercalcemia 2 12 15
Fhh Type 2 12 58
Hypocalciuric Hypercalcemia, Familial, Type 2 52
Familial Benign Hypercalcemia, Type Ii; Fbh2 56
Hypercalcemia, Familial Benign, Type Ii 56
Hypocalciuric Hypercalcemia, Familial 2 73
Familial Benign Hypercalcemia, Type Ii 56
Familial Benign Hypercalcemia, Type 2 52
Hypercalcemia, Familial Benign Type 2 52
Familial Benign Hypercalcemia Type Ii 73
Hypocalciuric Hypercalcemia Type Ii 12

Characteristics:

Orphanet epidemiological data:

58
familial hypocalciuric hypercalcemia type 2
Inheritance: Autosomal dominant;

OMIM:

56
Inheritance:
autosomal dominant with locus heterogeneity (19p13.3)


HPO:

31
hypocalciuric hypercalcemia, familial, type ii:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare respiratory diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060701
OMIM 56 145981
OMIM Phenotypic Series 56 PS145980
MeSH 43 D006934
ICD10 32 E83.5
MESH via Orphanet 44 C537146
ICD10 via Orphanet 33 E83.5
UMLS via Orphanet 72 C1840347 C2931427
Orphanet 58 ORPHA101049
MedGen 41 C1840347
UMLS 71 C1840347

Summaries for Hypocalciuric Hypercalcemia, Familial, Type Ii

UniProtKB/Swiss-Prot : 73 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 Endocrine and other factor-regulated calcium reabsorption and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. 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 45)
# Related Disease Score Top Affiliating Genes
1 familial hypocalciuric hypercalcemia 30.4 PTH GNA11 CDC73 CASR AP2S1 ADH4
2 hyperparathyroidism, neonatal severe 11.3
3 water-clear cell adenoma 10.2 PTH AP2S1
4 alcohol-related birth defect 10.2 ADH4 ADH1B
5 pseudopseudohypoparathyroidism 10.2 PTH GNA11
6 hypercalcemia, infantile, 1 10.2 PTH CASR
7 hypoparathyroidism, familial isolated 10.2 PTH CASR
8 metaphyseal chondrodysplasia, jansen type 10.1 PTH CASR
9 calciphylaxis 10.1 PTH CASR
10 pseudohypoparathyroidism, type ia 10.1 PTH GNA11
11 impaired renal function disease 10.1 PTH CASR
12 chondrodysplasia, blomstrand type 10.1 PTH CASR
13 phosphorus metabolism disease 10.1 PTH CASR
14 chondrocalcinosis 10.1 GNA11 CASR AP2S1
15 fetal alcohol spectrum disorder 10.1 ADH4 ADH1B
16 renal tubular transport disease 10.1 PTH CASR
17 hyperparathyroidism 2 with jaw tumors 10.0 CDC73 CASR
18 basal ganglia disease 10.0 PTH CASR
19 multiple endocrine neoplasia, type iv 10.0 CDC73 AP2S1
20 renal osteodystrophy 10.0 PTH CASR
21 clear cell adenoma 10.0 PTH CDC73
22 metal metabolism disorder 10.0 PTH CASR
23 hyperphosphatemia 9.9 PTH CASR
24 nephrocalcinosis 9.9 PTH GNA11 CASR
25 bone benign neoplasm 9.9 PTH CDC73
26 ossifying fibroma 9.9 PTH CDC73
27 osteomalacia 9.9 PTH CASR
28 connective tissue benign neoplasm 9.9 PTH CDC73
29 secondary hyperparathyroidism 9.8 PTH CASR
30 multiple endocrine neoplasia, type iia 9.8 PTH CDC73
31 hypoparathyroidism 9.7 PTH GNA11 CASR AP2S1
32 osteitis fibrosa 9.7 PTH CDC73 CASR
33 parathyroid carcinoma 9.7 PTH CDC73 CASR
34 adenoma 9.7 PTH CDC73 CASR
35 parathyroid adenoma 9.7 PTH CDC73 CASR
36 primary hyperparathyroidism 9.7 PTH CDC73 CASR
37 hyperparathyroidism 9.7 PTH CDC73 CASR
38 multiple endocrine neoplasia, type i 9.7 PTH CDC73 CASR
39 nephrolithiasis, calcium oxalate 9.7 PTH CDC73 CASR
40 alcoholic liver cirrhosis 9.7 ADH4 ADH1B
41 parathyroid gland disease 9.5 PTH CDC73 CASR AP2S1
42 mineral metabolism disease 9.5 PTH CDC73 CASR AP2S1
43 hypocalciuric hypercalcemia, familial, type iii 9.1 PTH GNA11 CASR AP2S1 ADH4 ADH1B
44 hypocalcemia, autosomal dominant 1 9.1 PTH GNA11 CASR AP2S1 ADH4 ADH1B
45 hypocalciuric hypercalcemia, familial, type i 8.7 PTH GNA11 CDC73 CASR AP2S1 ADH4

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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 nephrolithiasis 31 occasional (7.5%) HP:0000787
2 peptic ulcer 31 occasional (7.5%) HP:0004398
3 hypermagnesemia 31 very rare (1%) HP:0002918
4 chondrocalcinosis 31 HP:0000934
5 multiple lipomas 31 HP:0001012
6 pancreatitis 31 HP:0001733
7 hypercalcemia 31 HP:0003072
8 hypocalciuria 31 HP:0003127
9 parathormone-independent increased renal tubular calcium reabsorption 31 HP:0003529
10 primary hyperparathyroidism 31 HP:0008200

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 6 56
23802516 2013
2
Genetic linkage analysis in familial benign hypercalcemia using a candidate gene strategy. I. Studies in four families. 6 56
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. 6
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. 6
17698911 2007
5
Identification and analysis of conserved cis-regulatory regions of the MEIS1 gene. 61
22448256 2012

Variations for Hypocalciuric Hypercalcemia, Familial, Type Ii

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

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNA11 NM_002067.5(GNA11):c.595_597ATC[1] (p.Ile200del)short repeat Pathogenic 60661 rs672601249 19:3115063-3115065 19:3115065-3115067
2 GNA11 NM_002067.5(GNA11):c.404T>A (p.Leu135Gln)SNV Pathogenic 60662 rs587777019 19:3113410-3113410 19:3113412-3113412

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

73
# 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 retinoid metabolic process GO:0001523 9.26 ADH4 ADH1B
2 retinol metabolic process GO:0042572 9.16 ADH4 ADH1B
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 retinol dehydrogenase activity GO:0004745 8.96 ADH4 ADH1B
2 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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