MCID: DBT089
MIFTS: 14

Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification

Categories: Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Diabetes Insipidus, Nephrogenic, with Mental Retardation and...

MalaCards integrated aliases for Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification:

Name: Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 56
Schofer Beetz Bohl Syndrome 52 71
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome 58
Diabetes Insipidus Nephrogenic Mental Retardation and Intracerebral Calcification 52

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

OMIM 56 221995
ICD10 via Orphanet 33 N21.5
UMLS via Orphanet 72 C2931070
Orphanet 58 ORPHA3145
MedGen 41 C1857297
SNOMED-CT via HPO 68 111395007
UMLS 71 C2931070

Summaries for Diabetes Insipidus, Nephrogenic, with Mental Retardation and...

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3145 Definition This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism. Epidemiology It has been described in two siblings. Differential diagnosis Differential diagnosis includes Cockayne syndrome (see this term). Visit the Orphanet disease page for more resources.

MalaCards based summary : Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification, is also known as schofer beetz bohl syndrome. Affiliated tissues include bone, and related phenotypes are nephrogenic diabetes insipidus and intellectual disability

More information from OMIM: 221995

Related Diseases for Diabetes Insipidus, Nephrogenic, with Mental Retardation and...

Symptoms & Phenotypes for Diabetes Insipidus, Nephrogenic, with Mental Retardation and...

Human phenotypes related to Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrogenic diabetes insipidus 58 31 Very frequent (99-80%) HP:0009806
2 intellectual disability 58 Very frequent (99-80%)
3 global developmental delay 58 Very frequent (99-80%)
4 carious teeth 58 Very frequent (99-80%)
5 short stature 58 Very frequent (99-80%)
6 delayed puberty 58 Frequent (79-30%)
7 abnormality of metabolism/homeostasis 58 Very frequent (99-80%)
8 micrognathia 58 Very frequent (99-80%)
9 downslanted palpebral fissures 58 Very frequent (99-80%)
10 increased number of teeth 58 Very frequent (99-80%)
11 conductive hearing impairment 58 Frequent (79-30%)
12 hypoplasia of the zygomatic bone 58 Very frequent (99-80%)
13 cerebral calcification 58 Very frequent (99-80%)
14 limitation of joint mobility 58 Very frequent (99-80%)
15 abnormality of the antihelix 58 Very frequent (99-80%)

Clinical features from OMIM:

221995

Drugs & Therapeutics for Diabetes Insipidus, Nephrogenic, with Mental Retardation and...

Search Clinical Trials , NIH Clinical Center for Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification

Genetic Tests for Diabetes Insipidus, Nephrogenic, with Mental Retardation and...

Anatomical Context for Diabetes Insipidus, Nephrogenic, with Mental Retardation and...

MalaCards organs/tissues related to Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification:

40
Bone

Publications for Diabetes Insipidus, Nephrogenic, with Mental Retardation and...

Articles related to Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification:

# Title Authors PMID Year
1
Mental retardation syndrome with renal concentration deficiency and intracerebral calcification. 56
2133981 1990

Variations for Diabetes Insipidus, Nephrogenic, with Mental Retardation and...

Expression for Diabetes Insipidus, Nephrogenic, with Mental Retardation and...

Search GEO for disease gene expression data for Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification.

Pathways for Diabetes Insipidus, Nephrogenic, with Mental Retardation and...

GO Terms for Diabetes Insipidus, Nephrogenic, with Mental Retardation and...

Sources for Diabetes Insipidus, Nephrogenic, with Mental Retardation and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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