MCID: VNB001
MIFTS: 15

Van Benthem-Driessen-Hanveld Syndrome

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Van Benthem-Driessen-Hanveld Syndrome

MalaCards integrated aliases for Van Benthem-Driessen-Hanveld Syndrome:

Name: Van Benthem-Driessen-Hanveld Syndrome 52 58
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome 52 58
Cryptorchidism Arachnodactyly Intellectual Deficit 52

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Van Benthem-Driessen-Hanveld Syndrome

MalaCards based summary : Van Benthem-Driessen-Hanveld Syndrome, is also known as cryptorchidism-arachnodactyly-intellectual disability syndrome. Affiliated tissues include testis, eye and lung, and related phenotypes are intellectual disability and scoliosis

Related Diseases for Van Benthem-Driessen-Hanveld Syndrome

Symptoms & Phenotypes for Van Benthem-Driessen-Hanveld Syndrome

Human phenotypes related to Van Benthem-Driessen-Hanveld Syndrome:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
3 kyphosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002808
4 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
5 pectus carinatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000768
6 dolichocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000268
7 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
8 arachnodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001166
9 aplasia/hypoplasia of the lungs 58 31 hallmark (90%) Very frequent (99-80%) HP:0006703
10 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
11 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
12 abnormality of the dentition 58 31 frequent (33%) Frequent (79-30%) HP:0000164
13 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
14 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
15 abnormality of the voice 58 31 frequent (33%) Frequent (79-30%) HP:0001608
16 bilateral single transverse palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0007598
17 abnormal testis morphology 31 frequent (33%) HP:0000035
18 abnormality of the testis 58 Frequent (79-30%)

Drugs & Therapeutics for Van Benthem-Driessen-Hanveld Syndrome

Search Clinical Trials , NIH Clinical Center for Van Benthem-Driessen-Hanveld Syndrome

Genetic Tests for Van Benthem-Driessen-Hanveld Syndrome

Anatomical Context for Van Benthem-Driessen-Hanveld Syndrome

MalaCards organs/tissues related to Van Benthem-Driessen-Hanveld Syndrome:

40
Testis, Eye, Lung

Publications for Van Benthem-Driessen-Hanveld Syndrome

Variations for Van Benthem-Driessen-Hanveld Syndrome

Expression for Van Benthem-Driessen-Hanveld Syndrome

Search GEO for disease gene expression data for Van Benthem-Driessen-Hanveld Syndrome.

Pathways for Van Benthem-Driessen-Hanveld Syndrome

GO Terms for Van Benthem-Driessen-Hanveld Syndrome

Sources for Van Benthem-Driessen-Hanveld 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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