MCID: HYP753
MIFTS: 38

Hypocalciuric Hypercalcemia, Familial, Type Ii

Categories: Genetic diseases, Rare diseases, Respiratory diseases, Bone diseases, Endocrine diseases, Fetal diseases, Metabolic 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 73
Hhc2 57 12 53 75
Familial Hypocalciuric Hypercalcemia Type 2 12 53 59
Fbh2 57 53 75
Familial Hypocalciuric Hypercalcemia 2 12 15
Hypocalciuric Hypercalcemia, Type Ii 57 40
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 75
Familial Benign Hypercalcemia, Type Ii 57
Familial Benign Hypercalcemia, Type 2 53
Hypercalcemia, Familial Benign Type 2 53
Familial Benign Hypercalcemia Type Ii 75
Hypocalciuric Hypercalcemia Type Ii 12
Hypocalciuric Hypercalcemia-2 13

Characteristics:

Orphanet epidemiological data:

59
familial hypocalciuric hypercalcemia type 2
Inheritance: Autosomal dominant;

OMIM:

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


Classifications:



External Ids:

OMIM 57 145981
Disease Ontology 12 DOID:0060701
ICD10 33 E83.5
Orphanet 59 ORPHA101049
UMLS via Orphanet 74 C1840347 C2931427
ICD10 via Orphanet 34 E83.5
MESH via Orphanet 45 C537146
MedGen 42 C1840347
MeSH 44 D006934
UMLS 73 C1840347

Summaries for Hypocalciuric Hypercalcemia, Familial, Type Ii

UniProtKB/Swiss-Prot : 75 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 hhc2, 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 chondrocalcinosis

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

Description from OMIM: 145981

Related Diseases for Hypocalciuric Hypercalcemia, Familial, Type Ii

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

Symptoms via clinical synopsis from OMIM:

57
GU:
nephrolithiasis uncommon

Skin:
lipomas

Radiology:
chondrocalcinosis

GI:
peptic ulcer uncommon
pancreatitis

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

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

Clinical features from OMIM:

145981

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 chondrocalcinosis 32 HP:0000934
3 multiple lipomas 32 HP:0001012
4 pancreatitis 32 HP:0001733
5 hypermagnesemia 32 HP:0002918
6 hypercalcemia 32 HP:0003072
7 hypocalciuria 32 HP:0003127
8 parathormone-independent increased renal tubular calcium reabsorption 32 HP:0003529
9 peptic ulcer 32 occasional (7.5%) HP:0004398
10 primary hyperparathyroidism 32 HP:0008200

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

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 Year
1
Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss-of-Function GI+11 Mutation. ( 28833550 )
2017
2
G-Protein Subunit-I+11 Loss-of-Function Mutation, Thr54Met, Causing Familial Hypocalciuric Hypercalcemia Type 2 (FHH2). ( 26729423 )
2016

Variations for Hypocalciuric Hypercalcemia, Familial, Type Ii

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

75
# Symbol AA change Variation ID SNP ID
1 GNA11 p.Leu135Gln VAR_070166 rs587777019

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GNA11 NM_002067.4(GNA11): c.598_600delATC (p.Ile200del) deletion Pathogenic rs672601249 GRCh38 Chromosome 19, 3115065: 3115067
2 GNA11 NM_002067.4(GNA11): c.598_600delATC (p.Ile200del) deletion Pathogenic rs672601249 GRCh37 Chromosome 19, 3115063: 3115065
3 GNA11 NM_002067.4(GNA11): c.404T> A (p.Leu135Gln) single nucleotide variant Pathogenic rs587777019 GRCh37 Chromosome 19, 3113410: 3113410
4 GNA11 NM_002067.4(GNA11): c.404T> A (p.Leu135Gln) single nucleotide variant Pathogenic rs587777019 GRCh38 Chromosome 19, 3113412: 3113412

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 MAPK3 PAX6 PTH
2 negative regulation of neuron differentiation GO:0045665 9.26 MEIS1 PAX6
3 ethanol oxidation GO:0006069 8.96 ADH1B ADH4
4 response to fibroblast growth factor GO:0071774 8.62 CASR PTH

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 8.96 MEIS1 PTH
2 alcohol dehydrogenase activity, zinc-dependent GO:0004024 8.62 ADH1B ADH4

Sources for Hypocalciuric Hypercalcemia, Familial, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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