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Condition report · Endocrine

Inherited Parathyroid and Calcium Disorders

Inherited conditions that disturb parathyroid hormone and blood calcium control, caused by variants in genes such as CASR, GNA11, AP2S1, GCM2, CDC73 and GATA3. They can cause blood calcium to run too high or too low.

A condition report looks for rare variants known to cause the conditions it covers.

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The 6 conditions we analyse

Familial hypocalciuric hypercalcaemia

Autosomal dominant

Lifelong, usually harmless mildly high blood calcium with low urine calcium, caused by reduced calcium sensing (CASR, GNA11, AP2S1).

What a diagnosis changes

Recognising it avoids unnecessary parathyroid surgery, which does not cure it.

Genes analysed

Also known as

familial benign hypercalcemia; familial benign hypocalciuric hypercalcemia; FBH; FBHH; FHH

Includes 3 related subtypes ↓
  • familial hypocalciuric hypercalcemia 1
  • familial hypocalciuric hypercalcemia 2
  • familial hypocalciuric hypercalcemia 3
MONDO:0018458Orphanet 405MedGen 369200

Familial hypoparathyroidism

Low parathyroid hormone and low blood calcium, including autosomal dominant hypocalcaemia caused by overactive calcium sensing.

What a diagnosis changes

In autosomal dominant hypocalcaemia, standard calcium and vitamin D treatment can worsen kidney calcium loss, so treatment needs specialist adjustment.

Genes analysed

Also known as

Familial Isolated Hypoparathyroidism

Includes 7 related subtypes ↓
  • autosomal dominant hypocalcemia
  • autosomal dominant hypocalcemia 1
  • autosomal dominant hypocalcemia 2
  • familial isolated hypoparathyroidism due to agenesis of parathyroid gland
  • familial isolated hypoparathyroidism due to impaired PTH secretion
  • hypoparathyroidism, familial isolated 1
  • hypoparathyroidism, familial isolated, 2
MONDO:0016390Orphanet 2238MedGen 322005

Neonatal severe primary hyperparathyroidism

Autosomal recessive

Life-threatening very high blood calcium in newborns, usually caused by variants in both copies of CASR.

Genes analysed

Also known as

hyperparathyroidism, neonatal; neonatal severe hyperparathyroidism; NSHPT

MONDO:0009397OMIM 239200Orphanet 417MedGen 331326

Familial isolated hyperparathyroidism

Autosomal dominant

Overactive parathyroid glands running in families without other endocrine tumours.

Genes analysed

Also known as

FIHP; FIHPT

Includes 3 related subtypes ↓
  • hyperparathyroidism 1
  • hyperparathyroidism 3
  • hyperparathyroidism 4
MONDO:0015027Orphanet 99879MedGen 1643161

Hyperparathyroidism-jaw tumour syndrome

Autosomal dominant

Parathyroid tumours with a raised risk of parathyroid cancer, jaw tumours and kidney and uterine lesions, caused by CDC73 variants.

What a diagnosis changes

Regular calcium and parathyroid hormone checks allow parathyroid tumours to be found and removed early.

Genes analysed

Also known as

familial primary hyperparathyroidism with multiple ossifying jaw fibromas; hereditary hyperparathyroidism-jaw tumor syndrome; hereditary hyperparathyroidism-jaw tumour syndrome; HPT-JT; HRPT2; hyperparathyroidism 2; hyperparathyroidism type 2; hyperparathyroidism-jaw tumor syndrome; parathyroid adenoma with cystic changes

MONDO:0007768OMIM 145001Orphanet 99880MedGen 310065

Hypoparathyroidism-deafness-renal disease syndrome

Autosomal dominant

Low parathyroid hormone together with hearing loss and kidney anomalies, caused by GATA3 variants.

Genes analysed

Also known as

Barakat Syndrome; HDR; HDR syndrome; hypoparathyroidism, deafness, and renal anomalies syndrome; hypoparathyroidism, sensorineural deafness, and renal disease; hypoparathyroidism, sensorineural deafness, and renal dysplasia

MONDO:0007797OMIM 146255Orphanet 2237MedGen 374443

Limitations

  • Whole-gene or exon deletions of CDC73 or GATA3 need copy-number analysis and may not be detected.

Other endocrine conditions

All conditions →

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