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Hypoparathyroidism - X-linked(HYPX)

MedGen UID:
87437
Concept ID:
C0342344
Disease or Syndrome
Synonyms: Familial isolated hypoparathyroidism due to agenesis of parathyroid gland; HYPX; PARATHYROID GLANDS, AGENESIS OF
SNOMED CT: Hypoparathyroidism - X-linked (237655001); X-linked hypoparathyroidism (237655001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0010618
OMIM®: 307700
Orphanet: ORPHA2239

Definition

A rare genetic hypoparathyroidism characterized by severe hypocalcemia, seizures, hyperphosphatemia, and undetectable parathyroid hormone levels, in the absence of parathyroid tissue. Complications include psychomotor and growth delay, delayed dentition, and cataracts. [from ORDO]

Clinical features

From HPO
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Tetany
MedGen UID:
11748
Concept ID:
C0039621
Finding
A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.
Abnormality of the neck
MedGen UID:
540042
Concept ID:
C0266623
Congenital Abnormality
An abnormality of the neck.
Congenital hypoparathyroidism
MedGen UID:
264103
Concept ID:
C1455734
Congenital Abnormality
Deficiency of parathyroid hormone with congenital onset.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypoparathyroidism - X-linked
Follow this link to review classifications for Hypoparathyroidism - X-linked in Orphanet.

Professional guidelines

PubMed

Lewiecki EM, Bellido T, Bilezikian JP, Brown JP, Farooki A, Kovacs CS, Lee B, Leslie WD, McClung MR, Prasarn ML, Sellmeyer DE
J Clin Densitom 2023 Oct-Dec;26(4):101432. Epub 2023 Oct 14 doi: 10.1016/j.jocd.2023.101432. PMID: 37944445Free PMC Article
Niemann N, Jankovic J
Parkinsonism Relat Disord 2019 Oct;67:74-89. Epub 2019 Jun 30 doi: 10.1016/j.parkreldis.2019.06.025. PMID: 31272925
Stamp TC
Curr Med Res Opin 1981;7(5):316-36. doi: 10.1185/03007998109114276. PMID: 6894416

Recent clinical studies

Etiology

DeLacey S, Liu Z, Broyles A, El-Azab SA, Guandique CF, James BC, Imel EA
Bone 2019 Oct;127:386-392. Epub 2019 Jul 2 doi: 10.1016/j.bone.2019.06.025. PMID: 31276850Free PMC Article
Litzman J
Vnitr Lek 2019 Winter;65(2):109-116. PMID: 30909700
D'Assante R, Fusco A, Palamaro L, Giardino G, Gallo V, Cirillo E, Pignata C
Int Rev Immunol 2016;35(1):25-38. Epub 2015 Mar 16 doi: 10.3109/08830185.2015.1010724. PMID: 25774666
Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. PMID: 23624130
Andrew Nesbit M, Bowl MR, Harding B, Schlessinger D, Whyte MP, Thakker RV
Genomics 2004 Dec;84(6):1060-70. doi: 10.1016/j.ygeno.2004.08.003. PMID: 15533723

Diagnosis

Gómez-Alonso C
Adv Ther 2020 May;37(Suppl 2):38-46. Epub 2020 Mar 31 doi: 10.1007/s12325-019-01174-3. PMID: 32236872
Niemann N, Jankovic J
Parkinsonism Relat Disord 2019 Oct;67:74-89. Epub 2019 Jun 30 doi: 10.1016/j.parkreldis.2019.06.025. PMID: 31272925
Litzman J
Vnitr Lek 2019 Winter;65(2):109-116. PMID: 30909700
Pillar N, Pleniceanu O, Fang M, Ziv L, Lahav E, Botchan S, Cheng L, Dekel B, Shomron N
Hum Genet 2017 Jul;136(7):835-845. Epub 2017 Apr 25 doi: 10.1007/s00439-017-1804-9. PMID: 28444561Free PMC Article
Vantyghem MC, Dobbelaere D, Mention K, Wemeau JL, Saudubray JM, Douillard C
Orphanet J Rare Dis 2012 Jan 28;7:11. doi: 10.1186/1750-1172-7-11. PMID: 22284844Free PMC Article

Therapy

Miller WL, Imel EA
Horm Res Paediatr 2022;95(6):579-592. Epub 2022 Nov 29 doi: 10.1159/000527011. PMID: 36446330
DeLacey S, Liu Z, Broyles A, El-Azab SA, Guandique CF, James BC, Imel EA
Bone 2019 Oct;127:386-392. Epub 2019 Jul 2 doi: 10.1016/j.bone.2019.06.025. PMID: 31276850Free PMC Article
Niemann N, Jankovic J
Parkinsonism Relat Disord 2019 Oct;67:74-89. Epub 2019 Jun 30 doi: 10.1016/j.parkreldis.2019.06.025. PMID: 31272925
McKenna MJ, Martin-Grace J, Crowley R, Twomey PJ, Kilbane MT
J Bone Miner Metab 2019 Jul;37(4):685-693. Epub 2018 Sep 20 doi: 10.1007/s00774-018-0957-5. PMID: 30238432
McElduff A, Posen S
J Clin Endocrinol Metab 1989 Aug;69(2):386-9. doi: 10.1210/jcem-69-2-386. PMID: 2753981

Prognosis

Yang A, Kim J, Ki CS, Hong SH, Cho SY, Jin DK
BMC Med Genet 2017 Oct 26;18(1):121. doi: 10.1186/s12881-017-0484-6. PMID: 29073906Free PMC Article
Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. PMID: 23624130
Gupta A, Winer K, Econs MJ, Marx SJ, Collins MT
J Clin Endocrinol Metab 2004 Sep;89(9):4489-92. doi: 10.1210/jc.2004-0724. PMID: 15356053
Zucchi I, Jones J, Affer M, Montagna C, Redolfi E, Susani L, Vezzoni P, Parvari R, Schlessinger D, Whyte MP, Mumm S
Genomics 1999 Apr 15;57(2):209-18. doi: 10.1006/geno.1999.5768. PMID: 10198160

Clinical prediction guides

Pillar N, Pleniceanu O, Fang M, Ziv L, Lahav E, Botchan S, Cheng L, Dekel B, Shomron N
Hum Genet 2017 Jul;136(7):835-845. Epub 2017 Apr 25 doi: 10.1007/s00439-017-1804-9. PMID: 28444561Free PMC Article
Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. PMID: 23624130
Gupta A, Winer K, Econs MJ, Marx SJ, Collins MT
J Clin Endocrinol Metab 2004 Sep;89(9):4489-92. doi: 10.1210/jc.2004-0724. PMID: 15356053
Trump D, Dixon PH, Mumm S, Wooding C, Davies KE, Schlessinger D, Whyte MP, Thakker RV
J Med Genet 1998 Nov;35(11):905-9. doi: 10.1136/jmg.35.11.905. PMID: 9832036Free PMC Article
Thakker RV, Davies KE, Whyte MP, Wooding C, O'Riordan JL
J Clin Invest 1990 Jul;86(1):40-5. doi: 10.1172/JCI114712. PMID: 1973175Free PMC Article

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