VEODS
MCID: VNS015
MIFTS: 13

Van Esch-O'driscoll Syndrome (VEODS)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Van Esch-O'driscoll Syndrome

MalaCards integrated aliases for Van Esch-O'driscoll Syndrome:

Name: Van Esch-O'driscoll Syndrome 57
Mental Retardation, X-Linked, Syndromic, Van Esch-O'driscoll Type; Mrxsveod 57
Mental Retardation, X-Linked, Syndromic, Van Esch-O'driscoll Type 57
Van Esch-O''''driscoll Syndrome 6
Mrxsveod 57
Veods 57

Classifications:



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Summaries for Van Esch-O'driscoll Syndrome

OMIM : 57 Van Esch-O'Driscoll syndrome (VEODS) is characterized by varying degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations (Van Esch et al., 2019). (301030)

MalaCards based summary : Van Esch-O'driscoll Syndrome, is also known as mental retardation, x-linked, syndromic, van esch-o'driscoll type; mrxsveod. An important gene associated with Van Esch-O'driscoll Syndrome is POLA1 (DNA Polymerase Alpha 1, Catalytic Subunit).

Related Diseases for Van Esch-O'driscoll Syndrome

Symptoms & Phenotypes for Van Esch-O'driscoll Syndrome

Clinical features from OMIM:

301030

Drugs & Therapeutics for Van Esch-O'driscoll Syndrome

Search Clinical Trials , NIH Clinical Center for Van Esch-O'driscoll Syndrome

Genetic Tests for Van Esch-O'driscoll Syndrome

Anatomical Context for Van Esch-O'driscoll Syndrome

Publications for Van Esch-O'driscoll Syndrome

Articles related to Van Esch-O'driscoll Syndrome:

# Title Authors PMID Year
1
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism. 8
31006512 2019
2
X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family. 8
16053905 2005

Variations for Van Esch-O'driscoll Syndrome

ClinVar genetic disease variations for Van Esch-O'driscoll Syndrome:

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

Expression for Van Esch-O'driscoll Syndrome

Search GEO for disease gene expression data for Van Esch-O'driscoll Syndrome.

Pathways for Van Esch-O'driscoll Syndrome

GO Terms for Van Esch-O'driscoll Syndrome

Sources for Van Esch-O'driscoll Syndrome

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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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