MCID: INT279
MIFTS: 8

Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Intrauterine Growth Restriction-Short Stature-Early Adult-Onset...

MalaCards integrated aliases for Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome:

Name: Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 33 Q87.1
Orphanet 58 ORPHA436144

Summaries for Intrauterine Growth Restriction-Short Stature-Early Adult-Onset...

MalaCards based summary : Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome An important gene associated with Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C). Related phenotypes are short stature and intrauterine growth retardation

Related Diseases for Intrauterine Growth Restriction-Short Stature-Early Adult-Onset...

Symptoms & Phenotypes for Intrauterine Growth Restriction-Short Stature-Early Adult-Onset...

Human phenotypes related to Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
3 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734

Drugs & Therapeutics for Intrauterine Growth Restriction-Short Stature-Early Adult-Onset...

Search Clinical Trials , NIH Clinical Center for Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome

Genetic Tests for Intrauterine Growth Restriction-Short Stature-Early Adult-Onset...

Anatomical Context for Intrauterine Growth Restriction-Short Stature-Early Adult-Onset...

Publications for Intrauterine Growth Restriction-Short Stature-Early Adult-Onset...

Variations for Intrauterine Growth Restriction-Short Stature-Early Adult-Onset...

Expression for Intrauterine Growth Restriction-Short Stature-Early Adult-Onset...

Search GEO for disease gene expression data for Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome.

Pathways for Intrauterine Growth Restriction-Short Stature-Early Adult-Onset...

GO Terms for Intrauterine Growth Restriction-Short Stature-Early Adult-Onset...

Sources for Intrauterine Growth Restriction-Short Stature-Early Adult-Onset...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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