VEODS
MCID: VNS015
MIFTS: 24

Van Esch-O'driscoll Syndrome (VEODS)

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

Aliases & Classifications for Van Esch-O'driscoll Syndrome

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

Name: Van Esch-O'driscoll Syndrome 56 73
Mental Retardation, X-Linked, Syndromic, Van Esch-O'driscoll Type 56 73
X-Linked Intellectual Disability, Van Esch Type 58 6
Mrxsveod 56 73
Veods 56 73
Mental Retardation, X-Linked, Syndromic, Van Esch-O'driscoll Type; Mrxsveod 56
Van Esch-O''''driscoll Syndrome 6

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability, van esch type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
x-linked recessive

Miscellaneous:
carrier females are unaffected
variable congenital malformations


HPO:

31
van esch-o'driscoll syndrome:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare infertility disorders
Rare endocrine diseases


Summaries for Van Esch-O'driscoll Syndrome

OMIM : 56 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. An important gene associated with Van Esch-O'driscoll Syndrome is POLA1 (DNA Polymerase Alpha 1, Catalytic Subunit). Affiliated tissues include testis, and related phenotypes are failure to thrive and delayed skeletal maturation

UniProtKB/Swiss-Prot : 73 Van Esch-O'Driscoll syndrome: A X-linked recessive syndrome characterized by different degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations.

Related Diseases for Van Esch-O'driscoll Syndrome

Symptoms & Phenotypes for Van Esch-O'driscoll Syndrome

Human phenotypes related to Van Esch-O'driscoll Syndrome:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
3 type ii diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0005978
4 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
7 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
8 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
9 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
10 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
11 attention deficit hyperactivity disorder 58 31 hallmark (90%) Very frequent (99-80%) HP:0007018
12 male hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000026
13 hypergonadotropic hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000815
14 absence of secondary sex characteristics 58 31 hallmark (90%) Very frequent (99-80%) HP:0008187
15 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
16 impaired social interactions 58 31 hallmark (90%) Very frequent (99-80%) HP:0000735
17 retractile testis 58 31 hallmark (90%) Very frequent (99-80%) HP:0012646
18 increased circulating gonadotropin level 58 31 frequent (33%) Frequent (79-30%) HP:0000837
19 decreased serum testosterone level 58 31 frequent (33%) Frequent (79-30%) HP:0040171
20 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
21 coronal craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004440
22 seizures 31 very rare (1%) HP:0001250
23 spasticity 31 very rare (1%) HP:0001257
24 cerebellar hypoplasia 31 very rare (1%) HP:0001321
25 recurrent infections 31 very rare (1%) HP:0002719
26 bifid uvula 31 very rare (1%) HP:0000193
27 cerebral atrophy 31 very rare (1%) HP:0002059
28 intellectual disability 31 HP:0001249
29 scoliosis 31 HP:0002650
30 global developmental delay 31 HP:0001263
31 feeding difficulties 31 HP:0011968
32 ventricular septal defect 31 HP:0001629
33 atrial septal defect 31 HP:0001631
34 shyness 31 HP:0100962
35 upslanted palpebral fissure 31 HP:0000582
36 long face 31 HP:0000276
37 autistic behavior 31 HP:0000729
38 spina bifida occulta 31 HP:0003298
39 pulmonary artery stenosis 31 HP:0004415
40 pulmonary valve atresia 31 HP:0010882
41 unilateral vocal cord paralysis 31 HP:0008757

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
spina bifida occulta
deep sacral dimples

Abdomen Gastrointestinal:
feeding difficulties
gastrostomy tube
esophageal atresia with tracheoesophageal fistula (rare)

Head And Neck Head:
microcephaly

Growth Weight:
growth delay

Head And Neck Face:
long face

Respiratory Larynx:
unilateral vocal cord paralysis

Endocrine Features:
elevated gonadotropins
low serum testosterone

Head And Neck Mouth:
bifid uvula (rare)

Immunology:
recurrent infections (rare)

Growth Height:
short stature

Cardiovascular Heart:
ventricular septal defect
atrial septal defect
pulmonary valve atresia

Skeletal Skull:
microcephaly

Neurologic Behavioral Psychiatric Manifestations:
shyness
autistic behavior
avoidance of social interactions
attention deficit/hyperactivity disorder
hand stereotypies
more
Cardiovascular Vascular:
pulmonary artery stenosis

Neurologic Central Nervous System:
developmental delay
seizures (rare)
intellectual disability, mild to severe
spasticity (rare)
hypotonia in childhood
more
Head And Neck Eyes:
upslanting palpebral fissures

Genitourinary External Genitalia Male:
small testicular volume

Prenatal Manifestations:
intrauterine growth restriction

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

MalaCards organs/tissues related to Van Esch-O'driscoll Syndrome:

40
Testis

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. 56 6
31006512 2019
2
X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family. 56
16053905 2005

Variations for Van Esch-O'driscoll Syndrome

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POLA1 NM_016937.4(POLA1):c.236T>G (p.Ile79Ser)SNV Pathogenic 627632 rs1569271378 X:24721453-24721453 X:24703336-24703336
2 POLA1 NM_016937.4(POLA1):c.328G>A (p.Gly110Arg)SNV Pathogenic 627636 rs1569271892 X:24722586-24722586 X:24704469-24704469
3 POLA1 NM_016937.4(POLA1):c.4142C>T (p.Pro1381Leu)SNV Pathogenic 627633 rs1569350993 X:24906235-24906235 X:24888118-24888118
4 POLA1 NM_016937.3(POLA1):c.445_507del (p.Lys149_Glu169del)deletion Pathogenic 627635 rs1569277866 X:24733256-24733318 X:24715139-24715201
5 POLA1 NM_016937.4(POLA1):c.507+1G>ASNV Pathogenic 627634 rs1569277899 X:24733321-24733321 X:24715204-24715204
6 POLA1 NM_016937.4(POLA1):c.1189G>A (p.Asp397Asn)SNV Likely pathogenic 807658 X:24742458-24742458 X:24724341-24724341

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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