MCID: HLP016
MIFTS: 27

Holoprosencephaly 11

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Holoprosencephaly 11

MalaCards integrated aliases for Holoprosencephaly 11:

Name: Holoprosencephaly 11 54 12 71 29 13 14 69
Hpe11 12 71
Holoprosencephaly-11 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
variable severity
four unrelated patients have been reported (as of september 2011)


HPO:

32
holoprosencephaly 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 614226
Disease Ontology 12 DOID:0110877
MedGen 40 C3280215
MeSH 42 D016142

Summaries for Holoprosencephaly 11

UniProtKB/Swiss-Prot : 71 Holoprosencephaly 11: A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability.

MalaCards based summary : Holoprosencephaly 11, also known as hpe11, is related to cdon-related holoprosencephaly and al-raqad syndrome, and has symptoms including microcephaly, global developmental delay and agenesis of corpus callosum. An important gene associated with Holoprosencephaly 11 is CDON (Cell Adhesion Associated, Oncogene Regulated). Affiliated tissues include brain and pituitary, and related phenotype is respiratory system.

Disease Ontology : 12 A holoprosencephaly that has material basis in heterozygous mutation in the CDON gene on chromosome 11q24.

Description from OMIM: 614226

Related Diseases for Holoprosencephaly 11

Symptoms & Phenotypes for Holoprosencephaly 11

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
thick eyebrows
proptosis
synophrys
hypotelorism

Neurologic- Central Nervous System:
global developmental delay
agenesis of the corpus callosum
holoprosencephaly
absent pituitary

Head And Neck- Face:
absent columella

Head And Neck- Mouth:
cleft palate
cleft lip

Abdomen- Spleen:
polysplenia


Clinical features from OMIM:

614226

Human phenotypes related to Holoprosencephaly 11:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 global developmental delay 32 HP:0001263
3 agenesis of corpus callosum 32 HP:0001274
4 synophrys 32 HP:0000664
5 hypotelorism 32 HP:0000601
6 holoprosencephaly 32 HP:0001360

MGI Mouse Phenotypes related to Holoprosencephaly 11:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 8.62 CDON SERPINB1

Drugs & Therapeutics for Holoprosencephaly 11

Search Clinical Trials , NIH Clinical Center for Holoprosencephaly 11

Genetic Tests for Holoprosencephaly 11

Genetic tests related to Holoprosencephaly 11:

id Genetic test Affiliating Genes
1 Holoprosencephaly 11 29

Anatomical Context for Holoprosencephaly 11

MalaCards organs/tissues related to Holoprosencephaly 11:

39
Brain, Pituitary

Publications for Holoprosencephaly 11

Variations for Holoprosencephaly 11

UniProtKB/Swiss-Prot genetic disease variations for Holoprosencephaly 11:

71
id Symbol AA change Variation ID SNP ID
1 CDON p.Thr684Ser VAR_066497 rs145983470
2 CDON p.Pro689Ala VAR_066498 rs387906995
3 CDON p.Val691Met VAR_066499 rs139323558
4 CDON p.Val780Glu VAR_066500 rs387906996
5 CDON p.Thr790Ala VAR_066501 rs387906997
6 CDON p.Ser940Arg VAR_066502 rs369673018

ClinVar genetic disease variations for Holoprosencephaly 11:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CDON NM_016952.4(CDON): c.2065C> G (p.Pro689Ala) single nucleotide variant Pathogenic/Likely pathogenic rs387906995 GRCh37 Chromosome 11, 125871707: 125871707
2 CDON NM_016952.4(CDON): c.2339T> A (p.Val780Glu) single nucleotide variant Pathogenic rs387906996 GRCh37 Chromosome 11, 125867125: 125867125
3 CDON NM_016952.4(CDON): c.2368A> G (p.Thr790Ala) single nucleotide variant Pathogenic rs387906997 GRCh37 Chromosome 11, 125864942: 125864942
4 CDON NM_016952.4(CDON): c.2818A> C (p.Ser940Arg) single nucleotide variant Pathogenic rs369673018 GRCh37 Chromosome 11, 125853944: 125853944

Expression for Holoprosencephaly 11

Search GEO for disease gene expression data for Holoprosencephaly 11.

Pathways for Holoprosencephaly 11

GO Terms for Holoprosencephaly 11

Cellular components related to Holoprosencephaly 11 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.32 CDON

Sources for Holoprosencephaly 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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