MCID: MCR279
MIFTS: 25

Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome

Categories: Endocrine diseases, Rare diseases, Reproductive 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 58

Characteristics:

Orphanet epidemiological data:

58
microcephalic primordial dwarfism-insulin resistance syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 33 Q87.1
Orphanet 58 ORPHA436182

Summaries for Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome

MalaCards based summary : Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome is related to short stature, microcephaly, and endocrine dysfunction and isolated growth hormone deficiency, type ia. 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 hypertriglyceridemia and micrognathia

Related Diseases for Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome

Diseases related to Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 short stature, microcephaly, and endocrine dysfunction 9.8 XRCC4 XRCC2
2 isolated growth hormone deficiency, type ia 9.6 XRCC4 NSMCE2
3 isolated growth hormone deficiency 9.6 XRCC4 NSMCE2
4 fanconi anemia, complementation group a 9.6 XRCC4 XRCC2
5 seckel syndrome 9.5 XRCC4 NSMCE2
6 microcephaly 9.4 XRCC4 XRCC2 NSMCE2

Graphical network of the top 20 diseases related to Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome:



Diseases related to 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:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertriglyceridemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002155
2 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
3 hepatic steatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001397
4 severe short-limb dwarfism 58 31 hallmark (90%) Very frequent (99-80%) HP:0008890
5 primary gonadal insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0008193
6 malar prominence 58 31 hallmark (90%) Very frequent (99-80%) HP:0010620
7 insulin-resistant diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000831
8 retinal detachment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000541
9 congenital blindness 58 31 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 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.02 XRCC2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.02 XRCC2
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.02 NSMCE2 XRCC2 XRCC4

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.33 NSMCE2 XRCC2 XRCC4
2 integument MP:0010771 9.13 NSMCE2 XRCC2 XRCC4
3 neoplasm MP:0002006 8.8 NSMCE2 XRCC2 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

Articles related to Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome:

# Title Authors PMID Year
1
XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency. 6
26255102 2015
2
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability. 6
25839420 2015
3
A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy. 6
25872942 2015
4
An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome. 6
25742519 2015
5
Mutations in the NHEJ component XRCC4 cause primordial dwarfism. 6
25728776 2015
6
Genomic analysis of primordial dwarfism reveals novel disease genes. 6
24389050 2014
7
Response of motor complications in Cockayne syndrome to carbidopa-levodopa. 6
18695064 2008

Variations for Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome

ClinVar genetic disease variations for Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 XRCC4 NM_003401.5(XRCC4):c.823C>T (p.Arg275Ter) SNV Pathogenic 208516 rs797045016 GRCh37: 5:82554426-82554426
GRCh38: 5:83258607-83258607
2 XRCC4 NM_003401.5(XRCC4):c.-10-1G>T SNV Pathogenic 208517 rs869320678 GRCh37: 5:82400728-82400728
GRCh38: 5:83104909-83104909
3 XRCC4 NM_003401.5(XRCC4):c.673C>T (p.Arg225Ter) SNV Pathogenic 208518 rs768825050 GRCh37: 5:82500668-82500668
GRCh38: 5:83204849-83204849
4 XRCC4 NM_003401.5(XRCC4):c.481C>T (p.Arg161Ter) SNV Pathogenic 208519 rs779773463 GRCh37: 5:82491754-82491754
GRCh38: 5:83195935-83195935
5 XRCC4 NM_003401.5(XRCC4):c.246T>G (p.Asp82Glu) SNV Pathogenic 208520 rs879255258 GRCh37: 5:82406953-82406953
GRCh38: 5:83111134-83111134
6 XRCC4 NM_003401.5(XRCC4):c.482G>A (p.Arg161Gln) SNV Pathogenic 208521 rs797045017 GRCh37: 5:82491755-82491755
GRCh38: 5:83195936-83195936
7 XRCC4 NM_003401.5(XRCC4):c.760del (p.Asp254fs) Deletion Pathogenic 208522 rs879255259 GRCh37: 5:82554363-82554363
GRCh38: 5:83258544-83258544
8 XRCC4 NM_003401.5(XRCC4):c.628A>T (p.Lys210Ter) SNV Likely pathogenic 667362 rs991596636 GRCh37: 5:82499516-82499516
GRCh38: 5:83203697-83203697
9 XRCC4 NM_003401.5(XRCC4):c.127T>C (p.Trp43Arg) SNV Likely pathogenic 127246 rs587779351 GRCh37: 5:82400865-82400865
GRCh38: 5:83105046-83105046
10 XRCC2 NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) SNV Likely pathogenic 30063 rs143153871 GRCh37: 7:152345927-152345927
GRCh38: 7:152648842-152648842
11 XRCC4 NM_003401.5(XRCC4):c.25del (p.His9fs) Deletion Likely pathogenic 208515 rs869320677 GRCh37: 5:82400762-82400762
GRCh38: 5:83104943-83104943
12 XRCC4 NM_003401.5(XRCC4):c.640G>A (p.Glu214Lys) SNV Uncertain significance 690381 rs746407658 GRCh37: 5:82500635-82500635
GRCh38: 5:83204816-83204816
13 XRCC4 NM_003401.5(XRCC4):c.356C>T (p.Pro119Leu) SNV Uncertain significance 690382 rs768175717 GRCh37: 5:82491629-82491629
GRCh38: 5:83195810-83195810

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 XRCC4 NSMCE2

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 9.43 XRCC4 XRCC2 NSMCE2
2 double-strand break repair via homologous recombination GO:0000724 9.37 XRCC2 NSMCE2
3 DNA repair GO:0006281 9.33 XRCC4 XRCC2 NSMCE2
4 double-strand break repair via nonhomologous end joining GO:0006303 9.32 XRCC4 NSMCE2
5 response to X-ray GO:0010165 8.96 XRCC4 XRCC2
6 DNA recombination GO:0006310 8.8 XRCC4 XRCC2 NSMCE2

Sources for Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome

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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