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Autosomal dominant hypocalcemia 2(HYPOC2)

MedGen UID:: 815573
•Concept ID:: C3809243
•: Disease or Syndrome

Synonyms:	HYPOC2; HYPOCALCEMIA, AUTOSOMAL DOMINANT 2

Gene (location): Gene(s) directly associated with this condition or phenotype.	GNA11 (19p13.3)

Monarch Initiative:	MONDO:0014146
OMIM®:	615361

Definition

An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13. [from MONDO]

Clinical features

From HPO

Postnatal growth retardation

MedGen UID:: 395343
•Concept ID:: C1859778
•: Finding

Slow or limited growth after birth.

See: Feature record | Search on this feature

Paresthesia

MedGen UID:: 14619
•Concept ID:: C0030554
•: Disease or Syndrome

Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.

See: Feature record | Search on this feature

Muscle spasm

MedGen UID:: 52431
•Concept ID:: C0037763
•: Sign or Symptom

Sudden and involuntary contractions of one or more muscles.

See: Feature record | Search on this feature

Basal ganglia calcification

MedGen UID:: 234651
•Concept ID:: C1389280
•: Pathologic Function

The presence of calcium deposition affecting one or more structures of the basal ganglia.

See: Feature record | Search on this feature

Hypocalcemia

MedGen UID:: 5705
•Concept ID:: C0020598
•: Disease or Syndrome

An abnormally decreased calcium concentration in the blood.

See: Feature record | Search on this feature

Abnormal blood phosphate concentration

MedGen UID:: 867643
•Concept ID:: C4022032
•: Finding

An abnormality of phosphate homeostasis or concentration in the body.

See: Feature record | Search on this feature

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Abnormality of metabolism/homeostasis
- Abnormal blood phosphate concentration
- Hypocalcemia
Abnormality of the musculoskeletal system
- Basal ganglia calcification
- Muscle spasm
Abnormality of the nervous system
- Paresthesia
Growth abnormality
- Postnatal growth retardation

Professional guidelines

PubMed

Treatment of Hypoparathyroidism by Re-Establishing the Effects of Parathyroid Hormone.

Rejnmark L
Endocrinol Metab (Seoul) 2024 Apr;39(2):262-266. Epub 2024 Apr 4 doi: 10.3803/EnM.2024.1916. PMID: 38572533 Free PMC Article

Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA.

Wang Y, Nie M, Wang O, Li Y, Jiang Y, Li M, Xia W, Xing X
J Bone Miner Res 2019 Dec;34(12):2254-2263. Epub 2019 Nov 13 doi: 10.1002/jbmr.3854. PMID: 31433868

GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts.

Mayr B, Schnabel D, Dörr HG, Schöfl C
Eur J Endocrinol 2016 May;174(5):R189-208. Epub 2015 Dec 8 doi: 10.1530/EJE-15-1028. PMID: 26646938

See all (3)

Recent clinical studies

Etiology

Autosomal Dominant Hypocalcemia Type 1: A Systematic Review.

Roszko KL, Stapleton Smith LM, Sridhar AV, Roberts MS, Hartley IR, Gafni RI, Collins MT, Fox JC, Nemeth EF
J Bone Miner Res 2022 Oct;37(10):1926-1935. Epub 2022 Aug 22 doi: 10.1002/jbmr.4659. PMID: 35879818 Free PMC Article

Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib.

Milioto A, Reyes M, Hanna P, Kiuchi Z, Turan S, Zeve D, Agarwal C, Grigelioniene G, Chen A, Mericq V, Frangos M, Ten S, Mantovani G, Salusky IB, Tebben P, Jüppner H
J Clin Endocrinol Metab 2022 Mar 24;107(4):e1610-e1619. doi: 10.1210/clinem/dgab830. PMID: 34791361 Free PMC Article

Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions.

Kiuchi Z, Reyes M, Hanna P, Sharma A, DeClue T, Olney RC, Tebben P, Jüppner H
J Clin Endocrinol Metab 2022 Jan 18;107(2):e681-e687. doi: 10.1210/clinem/dgab660. PMID: 34477200 Free PMC Article

Phenotypic spectrum of neonatal CHARGE syndrome.

Sánchez N, Hernández M, Cruz JP, Mellado C
Rev Chil Pediatr 2019 Oct;90(5):533-538. doi: 10.32641/rchped.v90i5.1080. PMID: 31859737

The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.

Hannan FM, Kallay E, Chang W, Brandi ML, Thakker RV
Nat Rev Endocrinol 2018 Dec;15(1):33-51. doi: 10.1038/s41574-018-0115-0. PMID: 30443043 Free PMC Article

See all (17)

Diagnosis

Novel Calcium-Sensing Receptor (CASR) Mutation in a Family with Autosomal Dominant Hypocalcemia Type 1 (ADH1): Genetic Study over Three Generations and Clinical Characteristics.

Zung A, Barash G, Banne E, Levine MA
Horm Res Paediatr 2023;96(5):473-482. Epub 2023 Feb 22 doi: 10.1159/000529833. PMID: 36812896 Free PMC Article

Autosomal Dominant Hypocalcemia Type 1: A Systematic Review.

Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions.

Kiuchi Z, Reyes M, Hanna P, Sharma A, DeClue T, Olney RC, Tebben P, Jüppner H
J Clin Endocrinol Metab 2022 Jan 18;107(2):e681-e687. doi: 10.1210/clinem/dgab660. PMID: 34477200 Free PMC Article

Diseases associated with calcium-sensing receptor.

Vahe C, Benomar K, Espiard S, Coppin L, Jannin A, Odou MF, Vantyghem MC
Orphanet J Rare Dis 2017 Jan 25;12(1):19. doi: 10.1186/s13023-017-0570-z. PMID: 28122587 Free PMC Article

Inherited disorders of renal magnesium handling.

Cole DEC, Quamme GA
J Am Soc Nephrol 2000 Oct;11(10):1937-1947. doi: 10.1681/ASN.V11101937. PMID: 11004227

See all (46)

Therapy

Treatment of Hypoparathyroidism by Re-Establishing the Effects of Parathyroid Hormone.

Rejnmark L
Endocrinol Metab (Seoul) 2024 Apr;39(2):262-266. Epub 2024 Apr 4 doi: 10.3803/EnM.2024.1916. PMID: 38572533 Free PMC Article

Autosomal Dominant Hypocalcemia Type 1: A Systematic Review.

Treatment of Autosomal Dominant Hypocalcemia Type 1 With the Calcilytic NPSP795 (SHP635).

Roberts MS, Gafni RI, Brillante B, Guthrie LC, Streit J, Gash D, Gelb J, Krusinska E, Brennan SC, Schepelmann M, Riccardi D, Bin Khayat ME, Ward DT, Nemeth EF, Rosskamp R, Collins MT
J Bone Miner Res 2019 Sep;34(9):1609-1618. Epub 2019 Jul 26 doi: 10.1002/jbmr.3747. PMID: 31063613 Free PMC Article

Long-Term Parathyroid Hormone 1-34 Replacement Therapy in Children with Hypoparathyroidism.

Winer KK, Kelly A, Johns A, Zhang B, Dowdy K, Kim L, Reynolds JC, Albert PS, Cutler GB Jr
J Pediatr 2018 Dec;203:391-399.e1. doi: 10.1016/j.jpeds.2018.08.010. PMID: 30470382 Free PMC Article

The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.

Hannan FM, Kallay E, Chang W, Brandi ML, Thakker RV
Nat Rev Endocrinol 2018 Dec;15(1):33-51. doi: 10.1038/s41574-018-0115-0. PMID: 30443043 Free PMC Article

See all (21)

Prognosis

GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.

Howles SA, Gorvin CM, Cranston T, Rogers A, Gluck AK, Boon H, Gibson K, Rahman M, Root A, Nesbit MA, Hannan FM, Thakker RV
J Bone Miner Res 2023 Jun;38(6):907-917. Epub 2023 Apr 18 doi: 10.1002/jbmr.4803. PMID: 36970776 Free PMC Article

Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions.

Kiuchi Z, Reyes M, Hanna P, Sharma A, DeClue T, Olney RC, Tebben P, Jüppner H
J Clin Endocrinol Metab 2022 Jan 18;107(2):e681-e687. doi: 10.1210/clinem/dgab660. PMID: 34477200 Free PMC Article

Treatment of Autosomal Dominant Hypocalcemia Type 1 With the Calcilytic NPSP795 (SHP635).

The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.

Hannan FM, Kallay E, Chang W, Brandi ML, Thakker RV
Nat Rev Endocrinol 2018 Dec;15(1):33-51. doi: 10.1038/s41574-018-0115-0. PMID: 30443043 Free PMC Article

Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase gamma-subunit.

Meij IC, Koenderink JB, De Jong JC, De Pont JJ, Monnens LA, Van Den Heuvel LP, Knoers NV
Ann N Y Acad Sci 2003 Apr;986:437-43. doi: 10.1111/j.1749-6632.2003.tb07226.x. PMID: 12763862

See all (17)

Clinical prediction guides

GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.

Autosomal Dominant Hypocalcemia Type 1: A Systematic Review.

Differential parathyroid and kidney Ca(2+)-sensing receptor activation in autosomal dominant hypocalcemia 1.

van Megen WH, Tan RSG, Alexander RT, Dimke H
EBioMedicine 2022 Apr;78:103947. Epub 2022 Mar 18 doi: 10.1016/j.ebiom.2022.103947. PMID: 35313217 Free PMC Article

Expanding the clinical and genetic spectrum of pathogenic variants in STIM1.

Ticci C, Cassandrini D, Rubegni A, Riva B, Vattemi G, Matà S, Ricci G, Baldacci J, Guglielmi V, Di Muzio A, Malandrini A, Tonin P, Siciliano G, Federico A, Genazzani AA, Santorelli FM, Merlini L
Muscle Nerve 2021 Nov;64(5):567-575. Epub 2021 Aug 26 doi: 10.1002/mus.27391. PMID: 34368974

Treatment of Autosomal Dominant Hypocalcemia Type 1 With the Calcilytic NPSP795 (SHP635).

See all (29)

Recent systematic reviews

Autosomal Dominant Hypocalcemia Type 1: A Systematic Review.

See all (1)

MedGen

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Autosomal dominant hypocalcemia 2(HYPOC2)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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