x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Captcha image

Autosomal dominant primary hypomagnesemia with hypocalciuria

Disease definition

A mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.

ORPHA:34528

Classification level: Disorder
  • Synonym(s):
    • HOMG2
    • Isolated autosomal dominant hypomagnesemia
    • Isolated renal magnesium wasting
    • Renal hypomagnesemia type 2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: E83.4
  • ICD-11: 5C64.41
  • OMIM: 154020
  • UMLS: C1835171
  • MeSH: C537152
  • GARD: 3350
  • MedDRA: -

Summary

Epidemiology

To date, only one large pedigree with 18 affected individuals has been reported in the literature.

Clinical description

Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) can be detected in childhood or in adult life. Most affected individuals are asymptomatic but patients may suffer from generalized convulsions. In adulthood, chondrocalcinosis may be observed.

Differential diagnosis

Differential diagnosis includes all causes of renal hypomagnesemia, particularly diseases associated with hypocalciuria such as Gitelman syndrome, EAST syndrome and familial primary hypomagnesemia with normocalciuria and normocalcemia (see these terms).

Genetic counseling

Transmission is autosomal dominant. Genetic counseling may be proposed and the recurrence risk is 50%.

Management and treatment

Management is mainly symptomatic and includes oral magnesium supplements.

Expert reviewer(s):  Dr Rosa VARGAS-POUSSOU - Last update: February 2014

  A summary on this disease is available in Deutsch (2003) Português (2003) Español (2014) Français (2014) Italiano (2014) Nederlands (2014) Polski (2014, pdf)

Detailed information

Guidelines

Genetic Testing

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.