MCID: HLP016
MIFTS: 24

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 57 12 75 29 13 6 15 73
Hpe11 57 12 75
Holoprosencephaly, Type 11 40
Holoprosencephaly-11 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
isolated cases

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


HPO:

32
holoprosencephaly 11:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance sporadic


Classifications:



External Ids:

OMIM 57 614226
Disease Ontology 12 DOID:0110877
MedGen 42 C3280215
MeSH 44 D016142
UMLS 73 C3280215

Summaries for Holoprosencephaly 11

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Holoprosencephaly 11 is CDON (Cell Adhesion Associated, Oncogene Regulated). Affiliated tissues include brain and pituitary, and related phenotypes are cleft palate and microcephaly

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:

57
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

AbdomenSpleen:
polysplenia


Clinical features from OMIM:

614226

Human phenotypes related to Holoprosencephaly 11:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 cleft palate 32 HP:0000175
2 microcephaly 32 HP:0000252
3 proptosis 32 HP:0000520
4 thick eyebrow 32 HP:0000574
5 hypotelorism 32 HP:0000601
6 synophrys 32 HP:0000664
7 global developmental delay 32 HP:0001263
8 agenesis of corpus callosum 32 HP:0001274
9 holoprosencephaly 32 HP:0001360
10 polysplenia 32 HP:0001748
11 cleft lip 32 HP:0410030

MGI Mouse Phenotypes related to Holoprosencephaly 11:

46
# 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 29 CDON

Anatomical Context for Holoprosencephaly 11

MalaCards organs/tissues related to Holoprosencephaly 11:

41
Brain, Pituitary

Publications for Holoprosencephaly 11

Variations for Holoprosencephaly 11

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

75
# 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
(show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDON NM_016952.4(CDON): c.2065C> G (p.Pro689Ala) single nucleotide variant Likely pathogenic rs387906995 GRCh37 Chromosome 11, 125871707: 125871707
2 CDON NM_016952.4(CDON): c.2065C> G (p.Pro689Ala) single nucleotide variant Likely pathogenic rs387906995 GRCh38 Chromosome 11, 126001812: 126001812
3 CDON NM_016952.4(CDON): c.2339T> A (p.Val780Glu) single nucleotide variant Pathogenic rs387906996 GRCh37 Chromosome 11, 125867125: 125867125
4 CDON NM_016952.4(CDON): c.2339T> A (p.Val780Glu) single nucleotide variant Pathogenic rs387906996 GRCh38 Chromosome 11, 125997230: 125997230
5 CDON NM_016952.4(CDON): c.2368A> G (p.Thr790Ala) single nucleotide variant Pathogenic rs387906997 GRCh37 Chromosome 11, 125864942: 125864942
6 CDON NM_016952.4(CDON): c.2368A> G (p.Thr790Ala) single nucleotide variant Pathogenic rs387906997 GRCh38 Chromosome 11, 125995047: 125995047
7 CDON NM_016952.4(CDON): c.2818A> C (p.Ser940Arg) single nucleotide variant Pathogenic rs369673018 GRCh37 Chromosome 11, 125853944: 125853944
8 CDON NM_016952.4(CDON): c.2818A> C (p.Ser940Arg) single nucleotide variant Pathogenic rs369673018 GRCh38 Chromosome 11, 125984049: 125984049
9 CDON NM_016952.4(CDON): c.3526G> A (p.Val1176Ile) single nucleotide variant Benign/Likely benign rs78304400 GRCh37 Chromosome 11, 125831724: 125831724
10 CDON NM_016952.4(CDON): c.3526G> A (p.Val1176Ile) single nucleotide variant Benign/Likely benign rs78304400 GRCh38 Chromosome 11, 125961829: 125961829
11 CDON NM_016952.4(CDON): c.2623A> G (p.Ser875Gly) single nucleotide variant Benign/Likely benign rs115533243 GRCh38 Chromosome 11, 125994311: 125994311
12 CDON NM_016952.4(CDON): c.2623A> G (p.Ser875Gly) single nucleotide variant Benign/Likely benign rs115533243 GRCh37 Chromosome 11, 125864206: 125864206
13 CDON NM_016952.4(CDON): c.1051C> G (p.Pro351Ala) single nucleotide variant Benign/Likely benign rs35665264 GRCh38 Chromosome 11, 126015388: 126015388
14 CDON NM_016952.4(CDON): c.1051C> G (p.Pro351Ala) single nucleotide variant Benign/Likely benign rs35665264 GRCh37 Chromosome 11, 125885283: 125885283
15 CDON NM_016952.4(CDON): c.9G> A (p.Pro3=) single nucleotide variant Benign rs113593771 GRCh38 Chromosome 11, 126023468: 126023468
16 CDON NM_016952.4(CDON): c.9G> A (p.Pro3=) single nucleotide variant Benign rs113593771 GRCh37 Chromosome 11, 125893363: 125893363
17 CDON NM_016952.4(CDON): c.1603G> A (p.Ala535Thr) single nucleotide variant Benign/Likely benign rs76247998 GRCh37 Chromosome 11, 125875902: 125875902
18 CDON NM_016952.4(CDON): c.1603G> A (p.Ala535Thr) single nucleotide variant Benign/Likely benign rs76247998 GRCh38 Chromosome 11, 126006007: 126006007
19 CDON NM_016952.4(CDON): c.1826A> G (p.Asn609Ser) single nucleotide variant Uncertain significance rs756054017 GRCh37 Chromosome 11, 125875679: 125875679
20 CDON NM_016952.4(CDON): c.1826A> G (p.Asn609Ser) single nucleotide variant Uncertain significance rs756054017 GRCh38 Chromosome 11, 126005784: 126005784
21 CDON NM_016952.4(CDON): c.197A> G (p.Lys66Arg) single nucleotide variant Benign/Likely benign rs7122277 GRCh37 Chromosome 11, 125891295: 125891295
22 CDON NM_016952.4(CDON): c.197A> G (p.Lys66Arg) single nucleotide variant Benign/Likely benign rs7122277 GRCh38 Chromosome 11, 126021400: 126021400
23 CDON NM_016952.4(CDON): c.1310G> A (p.Arg437His) single nucleotide variant Benign rs114866803 GRCh37 Chromosome 11, 125880478: 125880478
24 CDON NM_016952.4(CDON): c.1310G> A (p.Arg437His) single nucleotide variant Benign rs114866803 GRCh38 Chromosome 11, 126010583: 126010583
25 CDON NM_016952.4(CDON): c.881A> G (p.Asn294Ser) single nucleotide variant Uncertain significance rs749949944 GRCh38 Chromosome 11, 126017135: 126017135
26 CDON NM_016952.4(CDON): c.881A> G (p.Asn294Ser) single nucleotide variant Uncertain significance rs749949944 GRCh37 Chromosome 11, 125887030: 125887030
27 CDON NM_016952.4(CDON): c.2923G> A (p.Val975Ile) single nucleotide variant Benign rs113921147 GRCh38 Chromosome 11, 125983944: 125983944
28 CDON NM_016952.4(CDON): c.2923G> A (p.Val975Ile) single nucleotide variant Benign rs113921147 GRCh37 Chromosome 11, 125853839: 125853839

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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