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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
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
Immunodeficiency and syndromes: a nosographic approach.
Burgio GR, Ugazio AG
Eur J Pediatr 1982 Jul;138(4):288-92. doi: 10.1007/BF00442498. PMID: 6215252

Diagnosis

Conradi-Hünermann-Happle syndrome associated with severe hypocalcemia in a newborn.
Dykman M, Voller LM, Boull C
Pediatr Dermatol 2022 Jul;39(4):657-658. Epub 2022 Mar 30 doi: 10.1111/pde.14979. PMID: 35355312Free 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
Falciform macular folds and chromosome 22q11.2: evidence in support of a locus for familial exudative vitreoretinopathy (FEVR).
Gandhi JK, Tollefson TT, Telander DG
Ophthalmic Genet 2014 Jun;35(2):112-6. Epub 2013 Mar 22 doi: 10.3109/13816810.2013.779382. PMID: 23521024
Diagnosed in the allergy and immunology clinic.
Assa'ad A
Pediatr Ann 2011 Apr;40(4):224-7. doi: 10.3928/00904481-20110316-10. PMID: 21485999
Evaluation and management of B and T cell abnormalities.
Harrison LF, Shearer WT
Allergy Proc 1991 Jan-Feb;12(1):25-30. doi: 10.2500/108854191778879548. PMID: 2040445

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

Distinct pattern of neostriatal calcifications in dyskeratosis congenita: A case report and literature review.
Abdollahi M, Gao MM, Munoz DG
Clin Neuropathol 2018 Nov/Dec;37(6):277-282. doi: 10.5414/NP301088. PMID: 30106361
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
The etiology of enamel hypoplasia: a unifying concept.
Nikiforuk G, Fraser D
J Pediatr 1981 Jun;98(6):888-93. doi: 10.1016/s0022-3476(81)80580-x. PMID: 6262472

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