MCID: XLN113
MIFTS: 13

X-Linked Intellectual Disability, Van Esch Type

Categories: Endocrine diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for X-Linked Intellectual Disability, Van Esch Type

Summaries for X-Linked Intellectual Disability, Van Esch Type

MalaCards based summary : X-Linked Intellectual Disability, Van Esch Type An important gene associated with X-Linked Intellectual Disability, Van Esch Type is POLA1 (DNA Polymerase Alpha 1, Catalytic Subunit). Affiliated tissues include testis, and related phenotypes are failure to thrive and delayed skeletal maturation

Related Diseases for X-Linked Intellectual Disability, Van Esch Type

Symptoms & Phenotypes for X-Linked Intellectual Disability, Van Esch Type

Human phenotypes related to X-Linked Intellectual Disability, Van Esch Type:

60 33 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
2 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
3 type ii diabetes mellitus 60 33 hallmark (90%) Very frequent (99-80%) HP:0005978
4 microtia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008551
5 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
6 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
7 intellectual disability, mild 60 33 hallmark (90%) Very frequent (99-80%) HP:0001256
8 retrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000278
9 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028
10 attention deficit hyperactivity disorder 60 33 hallmark (90%) Very frequent (99-80%) HP:0007018
11 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
12 male hypogonadism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000026
13 hypergonadotropic hypogonadism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000815
14 absence of secondary sex characteristics 60 33 hallmark (90%) Very frequent (99-80%) HP:0008187
15 decreased testicular size 60 33 hallmark (90%) Very frequent (99-80%) HP:0008734
16 impaired social interactions 60 33 hallmark (90%) Very frequent (99-80%) HP:0000735
17 retractile testis 60 33 hallmark (90%) Very frequent (99-80%) HP:0012646
18 increased circulating gonadotropin level 60 33 frequent (33%) Frequent (79-30%) HP:0000837
19 decreased serum testosterone level 60 33 frequent (33%) Frequent (79-30%) HP:0040171
20 clinodactyly of the 5th finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0004209
21 coronal craniosynostosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004440

Drugs & Therapeutics for X-Linked Intellectual Disability, Van Esch Type

Search Clinical Trials , NIH Clinical Center for X-Linked Intellectual Disability, Van Esch Type

Genetic Tests for X-Linked Intellectual Disability, Van Esch Type

Anatomical Context for X-Linked Intellectual Disability, Van Esch Type

MalaCards organs/tissues related to X-Linked Intellectual Disability, Van Esch Type:

42
Testis

Publications for X-Linked Intellectual Disability, Van Esch Type

Variations for X-Linked Intellectual Disability, Van Esch Type

ClinVar genetic disease variations for X-Linked Intellectual Disability, Van Esch Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POLA1 NM_016937.3(POLA1): c.236T> G (p.Ile79Ser) single nucleotide variant Pathogenic GRCh38 Chromosome X, 24703336: 24703336
2 POLA1 NM_016937.3(POLA1): c.236T> G (p.Ile79Ser) single nucleotide variant Pathogenic GRCh37 Chromosome X, 24721453: 24721453
3 POLA1 NM_016937.3(POLA1): c.328G> A (p.Gly110Arg) single nucleotide variant Pathogenic GRCh38 Chromosome X, 24704469: 24704469
4 POLA1 NM_016937.3(POLA1): c.328G> A (p.Gly110Arg) single nucleotide variant Pathogenic GRCh37 Chromosome X, 24722586: 24722586
5 POLA1 NM_016937.3(POLA1): c.4142C> T (p.Pro1381Leu) single nucleotide variant Pathogenic GRCh38 Chromosome X, 24888118: 24888118
6 POLA1 NM_016937.3(POLA1): c.4142C> T (p.Pro1381Leu) single nucleotide variant Pathogenic GRCh37 Chromosome X, 24906235: 24906235
7 POLA1 NM_016937.3(POLA1): c.445_507del (p.Lys149_Glu169del) deletion Pathogenic GRCh38 Chromosome X, 24715141: 24715203
8 POLA1 NM_016937.3(POLA1): c.445_507del (p.Lys149_Glu169del) deletion Pathogenic GRCh37 Chromosome X, 24733258: 24733320
9 POLA1 NM_016937.3(POLA1): c.507+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome X, 24715204: 24715204
10 POLA1 NM_016937.3(POLA1): c.507+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome X, 24733321: 24733321

Expression for X-Linked Intellectual Disability, Van Esch Type

Search GEO for disease gene expression data for X-Linked Intellectual Disability, Van Esch Type.

Pathways for X-Linked Intellectual Disability, Van Esch Type

GO Terms for X-Linked Intellectual Disability, Van Esch Type

Sources for X-Linked Intellectual Disability, Van Esch Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
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47 MGI
50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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