MCID: MCR279
MIFTS: 17

Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome

Categories: Reproductive diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome

MalaCards integrated aliases for Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome:

Name: Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
microcephalic primordial dwarfism-insulin resistance syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA436182
ICD10 via Orphanet 34 Q87.1

Summaries for Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome

MalaCards based summary : Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome An important gene associated with Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome is XRCC4 (X-Ray Repair Cross Complementing 4), and among its related pathways/superpathways is SUMOylation. Related phenotypes are micrognathia and insulin-resistant diabetes mellitus

Related Diseases for Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome

Symptoms & Phenotypes for Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome

Human phenotypes related to Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
2 insulin-resistant diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000831
3 hepatic steatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001397
4 hypertriglyceridemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002155
5 primary gonadal insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0008193
6 severe short-limb dwarfism 59 32 hallmark (90%) Very frequent (99-80%) HP:0008890
7 malar prominence 59 32 hallmark (90%) Very frequent (99-80%) HP:0010620
8 retinal detachment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000541
9 congenital blindness 59 32 occasional (7.5%) Occasional (29-5%) HP:0007875

GenomeRNAi Phenotypes related to Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.62 NSMCE2 XRCC4

MGI Mouse Phenotypes related to Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.62 NSMCE2 XRCC4

Drugs & Therapeutics for Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome

Search Clinical Trials , NIH Clinical Center for Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome

Genetic Tests for Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome

Anatomical Context for Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome

Publications for Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome

Variations for Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome

Expression for Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome

Search GEO for disease gene expression data for Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome.

Pathways for Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome

Pathways related to Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.16 NSMCE2 XRCC4

GO Terms for Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome

Biological processes related to Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.26 NSMCE2 XRCC4
2 DNA repair GO:0006281 9.16 NSMCE2 XRCC4
3 DNA recombination GO:0006310 8.96 NSMCE2 XRCC4
4 double-strand break repair via nonhomologous end joining GO:0006303 8.62 NSMCE2 XRCC4

Sources for Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome

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
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