MCID: HLP016
MIFTS: 23

Holoprosencephaly 11

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

Aliases & Classifications for Holoprosencephaly 11

MalaCards integrated aliases for Holoprosencephaly 11:

Name: Holoprosencephaly 11 53 12 71 28 13 14 69
Hpe11 53 12 71
Holoprosencephaly-11 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant
isolated cases

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


HPO:

31
holoprosencephaly 11:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance sporadic


Classifications:



External Ids:

OMIM 53 614226
Disease Ontology 12 DOID:0110877
MedGen 39 C3280215
MeSH 41 D016142
UMLS 69 C3280215

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, is also known as hpe11, and has symptoms including agenesis of corpus callosum, global developmental delay and microcephaly. 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:

53
Neurologic Central Nervous System:
global developmental delay
holoprosencephaly
agenesis of the corpus callosum
absent pituitary

Head And Neck Eyes:
proptosis
hypotelorism
synophrys
thick eyebrows

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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 HP:0001274
2 global developmental delay 31 HP:0001263
3 microcephaly 31 HP:0000252
4 thick eyebrow 31 HP:0000574
5 cleft palate 31 HP:0000175
6 proptosis 31 HP:0000520
7 holoprosencephaly 31 HP:0001360
8 hypotelorism 31 HP:0000601
9 synophrys 31 HP:0000664
10 polysplenia 31 HP:0001748
11 cleft lip 31 HP:0410030

MGI Mouse Phenotypes related to Holoprosencephaly 11:

43
# 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:

# Genetic test Affiliating Genes
1 Holoprosencephaly 11 28 CDON

Anatomical Context for Holoprosencephaly 11

MalaCards organs/tissues related to Holoprosencephaly 11:

38
Brain, Pituitary

Publications for Holoprosencephaly 11

Variations for Holoprosencephaly 11

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

71
# 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
# 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:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.62 CDON SERPINB1

Sources for Holoprosencephaly 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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