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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.
See: This record
Autosomal recessive inheritance (Orphanet)
X-linked recessive inheritance (Orphanet)
 
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Abnormality of the neck
MedGen UID:
540042
•Concept ID:
C0266623
•
Congenital Abnormality
An abnormality of the neck.
See: Feature record | Search on this feature
Congenital hypoparathyroidism
MedGen UID:
264103
•Concept ID:
C1455734
•
Congenital Abnormality
Deficiency of parathyroid hormone with congenital onset.
See: Feature record | Search on this feature
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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

Proceedings of the 2023 Santa Fe Bone Symposium: Progress and Controversies in the Management of Patients with Skeletal Diseases.
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
Juvenile parkinsonism: Differential diagnosis, genetics, and treatment.
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
Calcitriol dosage in osteomalacia, hypoparathyroidism and attempted treatment of myositis ossificans progressiva.
Stamp TC
Curr Med Res Opin 1981;7(5):316-36. doi: 10.1185/03007998109114276. PMID: 6894416

Recent clinical studies

Etiology

Hyperparathyroidism and parathyroidectomy in X-linked hypophosphatemia patients.
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
Primary immunodeficiencies in adults.
Litzman J
Vnitr Lek 2019 Winter;65(2):109-116. PMID: 30909700
Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies.
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
Thyroid autoimmunity and polyglandular endocrine syndromes.
Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. PMID: 23624130
Endocrine manifestations related to inherited metabolic diseases in adults.
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

Diagnosis

Paediatric Metabolic Bone Disease: A Lifetime Ahead.
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
Juvenile parkinsonism: Differential diagnosis, genetics, and treatment.
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
Primary immunodeficiencies in adults.
Litzman J
Vnitr Lek 2019 Winter;65(2):109-116. PMID: 30909700
A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism.
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
Endocrine manifestations related to inherited metabolic diseases in adults.
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

Rickets, Vitamin D, and Ca/P Metabolism.
Miller WL, Imel EA
Horm Res Paediatr 2022;95(6):579-592. Epub 2022 Nov 29 doi: 10.1159/000527011. PMID: 36446330
Hyperparathyroidism and parathyroidectomy in X-linked hypophosphatemia patients.
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
Juvenile parkinsonism: Differential diagnosis, genetics, and treatment.
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
Congenital hypophosphataemia in adults: determinants of bone turnover markers and amelioration of renal phosphate wasting following total parathyroidectomy.
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
Parathyroid hormone sensitivity in familial X-linked hypophosphatemic rickets.
McElduff A, Posen S
J Clin Endocrinol Metab 1989 Aug;69(2):386-9. doi: 10.1210/jcem-69-2-386. PMID: 2753981

Prognosis

HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.
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
Thyroid autoimmunity and polyglandular endocrine syndromes.
Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. PMID: 23624130
FGF-23 is elevated by chronic hyperphosphatemia.
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
Transcription map of Xq27: candidates for several X-linked diseases.
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

A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism.
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
Thyroid autoimmunity and polyglandular endocrine syndromes.
Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. PMID: 23624130
FGF-23 is elevated by chronic hyperphosphatemia.
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
Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.
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
Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies.
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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