U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Nephrogenic diabetes insipidus-intracranial calcification syndrome

MedGen UID:
387791
•Concept ID:
C1857297
•
Disease or Syndrome
Synonym: DIABETES INSIPIDUS, NEPHROGENIC, WITH MENTAL RETARDATION AND INTRACEREBRAL CALCIFICATION
 
Monarch Initiative: MONDO:0009099
OMIM®: 221995
Orphanet: ORPHA3145

Definition

A rare, genetic, renal tubular disease characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual disability, short stature and facial dysmorphism. There have been no further descriptions in the literature since 1990. [from ORDO]

Clinical features

From HPO
Severe short stature
MedGen UID:
3931
•Concept ID:
C0013336
•
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
See: Feature record | Search on this feature
Global developmental delay
MedGen UID:
107838
•Concept ID:
C0557874
•
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
See: Feature record | Search on this feature
Cerebral calcification
MedGen UID:
124360
•Concept ID:
C0270685
•
Finding
The presence of calcium deposition within the cerebrum.
See: Feature record | Search on this feature
Nephrogenic diabetes insipidus
MedGen UID:
57876
•Concept ID:
C0162283
•
Disease or Syndrome
Hereditary nephrogenic diabetes insipidus (NDI) is characterized by inability to concentrate the urine, which results in polyuria (excessive urine production) and polydipsia (excessive thirst). Affected untreated infants usually have poor feeding and failure to thrive, and rapid onset of severe dehydration with illness, hot environment, or the withholding of water. Short stature and secondary dilatation of the ureters and bladder from the high urine volume is common in untreated individuals.
See: Feature record | Search on this feature
Show allHide all

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNephrogenic diabetes insipidus-intracranial calcification syndrome
Follow this link to review classifications for Nephrogenic diabetes insipidus-intracranial calcification syndrome in Orphanet.

Recent clinical studies

Etiology

Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study.
Sinha R, Pradhan S, Banerjee S, Jahan A, Akhtar S, Pahari A, Raut S, Parakh P, Basu S, Srivastava P, Nayak S, Thenral SG, Ramprasad V, Ashton E, Bockenhauer D, Mandal K
Pediatr Nephrol 2022 Aug;37(8):1811-1836. Epub 2022 Jan 10 doi: 10.1007/s00467-021-05388-y. PMID: 35006361

Diagnosis

Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene.
Drosataki E, Maragkou S, Dermitzaki K, Stavrakaki I, Lygerou D, Latsoudis H, Pleros C, Petrakis I, Zaganas I, Stylianou K
BMC Nephrol 2022 May 12;23(1):182. doi: 10.1186/s12882-022-02812-9. PMID: 35549682Free PMC Article
Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study.
Sinha R, Pradhan S, Banerjee S, Jahan A, Akhtar S, Pahari A, Raut S, Parakh P, Basu S, Srivastava P, Nayak S, Thenral SG, Ramprasad V, Ashton E, Bockenhauer D, Mandal K
Pediatr Nephrol 2022 Aug;37(8):1811-1836. Epub 2022 Jan 10 doi: 10.1007/s00467-021-05388-y. PMID: 35006361
Renal involvement in primary Sjogren syndrome of childhood: case report and literature review.
Bogdanović R, Basta-Jovanović G, Putnik J, Stajić N, Paripović A
Mod Rheumatol 2013 Jan;23(1):182-9. Epub 2012 Apr 7 doi: 10.1007/s10165-012-0633-x. PMID: 22484709
Acquired nephrogenic diabetes insipidus secondary to distal renal tubular acidosis and nephrocalcinosis associated with Sjögren's syndrome.
Nagayama Y, Shigeno M, Nakagawa Y, Suganuma A, Takeshita A, Fujiyama K, Ashizawa K, Kiriyama T, Yokoyama N, Nagataki S
J Endocrinol Invest 1994 Sep;17(8):659-63. doi: 10.1007/BF03349682. PMID: 7868806

Therapy

Nephrogenic Systemic Fibrosis with Osseous Metaplasia in a Kidney-Pancreas Transplant Patient.
de Lavillandre JLB, Buron F, Ducroux E, Kanitakis J
Skinmed 2022;20(2):145-148. Epub 2022 Apr 30 PMID: 35532771
Renal involvement in primary Sjogren syndrome of childhood: case report and literature review.
Bogdanović R, Basta-Jovanović G, Putnik J, Stajić N, Paripović A
Mod Rheumatol 2013 Jan;23(1):182-9. Epub 2012 Apr 7 doi: 10.1007/s10165-012-0633-x. PMID: 22484709

Clinical prediction guides

Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene.
Drosataki E, Maragkou S, Dermitzaki K, Stavrakaki I, Lygerou D, Latsoudis H, Pleros C, Petrakis I, Zaganas I, Stylianou K
BMC Nephrol 2022 May 12;23(1):182. doi: 10.1186/s12882-022-02812-9. PMID: 35549682Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...