MCID: INT279
MIFTS: 9

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 59

Characteristics:

Orphanet epidemiological data:

59
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: 59  
Rare endocrine diseases


External Ids:

Orphanet 59 ORPHA436144
ICD10 via Orphanet 34 Q87.1

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 intrauterine growth retardation and short stature

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:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
2 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
3 decreased testicular size 59 32 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....