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Nephrogenic diabetes insipidus-intracranial calcification syndrome

MedGen UID:
387791
Concept ID:
C1857297
Disease or Syndrome
Synonym: DIABETES INSIPIDUS, NEPHROGENIC, WITH IMPAIRED INTELLECTUAL DEVELOPMENT 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.
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.
Cerebral calcification
MedGen UID:
124360
Concept ID:
C0270685
Finding
The presence of calcium deposition within the cerebrum.
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.

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

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

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
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
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
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

de Lavillandre JLB, Buron F, Ducroux E, Kanitakis J
Skinmed 2022;20(2):145-148. Epub 2022 Apr 30 PMID: 35532771
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

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

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