MCID: SPT016
MIFTS: 33

Septopreoptic Holoprosencephaly

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

Aliases & Classifications for Septopreoptic Holoprosencephaly

MalaCards integrated aliases for Septopreoptic Holoprosencephaly:

Name: Septopreoptic Holoprosencephaly 59
Septopreoptic Hpe 59

Characteristics:

Orphanet epidemiological data:

59
septopreoptic holoprosencephaly
Inheritance: Multigenic/multifactorial; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA280195
ICD10 via Orphanet 34 Q04.2

Summaries for Septopreoptic Holoprosencephaly

MalaCards based summary : Septopreoptic Holoprosencephaly, also known as septopreoptic hpe, is related to holoprosencephaly and duodenal obstruction. An important gene associated with Septopreoptic Holoprosencephaly is GAS1 (Growth Arrest Specific 1), and among its related pathways/superpathways are Pathways in cancer and Signaling by Hedgehog. Affiliated tissues include pituitary and thyroid, and related phenotypes are embryo and cardiovascular system

Related Diseases for Septopreoptic Holoprosencephaly

Diseases related to Septopreoptic Holoprosencephaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 holoprosencephaly 28.3 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
2 duodenal obstruction 10.2 CDON NODAL
3 holoprosencephaly 7 10.1 NODAL PTCH1
4 holoprosencephaly 8 10.1 DISP1 TGIF1
5 calcifying epithelial odontogenic tumor 10.0 GLI2 PTCH1
6 nodular medulloblastoma 10.0 GLI2 PTCH1
7 holoprosencephaly 5 10.0 TGIF1 ZIC2
8 tooth size 10.0 FGF8 SHH
9 patau syndrome 9.9 NODAL SIX3 ZIC2
10 microcephaly 7, primary, autosomal recessive 9.9 NODAL SHH
11 pallister-hall syndrome 9.9 GLI2 SHH
12 acquired schizencephaly 9.9 SHH SIX3
13 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 9.9 GLI2 SHH
14 holoprosencephaly, recurrent infections, and monocytosis 9.9 GLI2 PTCH1 SIX3
15 focal epithelial hyperplasia 9.8 FGF8 GLI2 SHH
16 orofacial cleft 9.8 FGF8 NODAL SHH
17 pituitary stalk interruption syndrome 9.8 CDON SHH TGIF1
18 disuse amblyopia 9.8 GLI2 SHH
19 holoprosencephaly 1 9.8 GAS1 SHH SIX3
20 greig cephalopolysyndactyly syndrome 9.8 GLI2 PTCH1 SHH
21 bardet-biedl syndrome 17 9.8 GLI2 PTCH1 SHH
22 holoprosencephaly 4 9.8 SHH TGIF1 ZIC2
23 agnathia-otocephaly complex 9.8 FGF8 GLI2 NODAL SHH
24 infratentorial cancer 9.7 GLI2 PTCH1 SHH
25 brachydactyly, type a1 9.7 CDON GAS1 PTCH1 SHH
26 basal cell nevus syndrome 9.7 GAS1 GLI2 PTCH1 SHH
27 keratocystic odontogenic tumor 9.7 PTCH1 SHH
28 chromosome 18p deletion syndrome 9.6 NODAL SHH SIX3 ZIC2
29 congenital nervous system abnormality 9.6 NODAL SHH SIX3 ZIC2
30 physical disorder 9.5 FGF8 NODAL SHH SIX3 ZIC2
31 microform holoprosencephaly 8.3 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
32 semilobar holoprosencephaly 8.3 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
33 lobar holoprosencephaly 8.3 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
34 midline interhemispheric variant of holoprosencephaly 8.3 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
35 alobar holoprosencephaly 8.3 CDON DISP1 DLL1 FGF8 FOXH1 GAS1

Graphical network of the top 20 diseases related to Septopreoptic Holoprosencephaly:



Diseases related to Septopreoptic Holoprosencephaly

Symptoms & Phenotypes for Septopreoptic Holoprosencephaly

MGI Mouse Phenotypes related to Septopreoptic Holoprosencephaly:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.38 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
2 cardiovascular system MP:0005385 10.35 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
3 cellular MP:0005384 10.35 CDON DISP1 DLL1 FGF8 GAS1 GLI2
4 craniofacial MP:0005382 10.34 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
5 growth/size/body region MP:0005378 10.32 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
6 digestive/alimentary MP:0005381 10.29 CDON DISP1 DLL1 FGF8 FOXH1 GLI2
7 mortality/aging MP:0010768 10.28 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
8 behavior/neurological MP:0005386 10.24 CDON DLL1 FGF8 GAS1 GLI2 PTCH1
9 nervous system MP:0003631 10.21 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
10 homeostasis/metabolism MP:0005376 10.18 DISP1 DLL1 FGF8 FOXH1 GAS1 GLI2
11 limbs/digits/tail MP:0005371 10.16 CDON DISP1 DLL1 FGF8 GAS1 GLI2
12 hearing/vestibular/ear MP:0005377 10.1 DLL1 FGF8 FOXH1 GAS1 GLI2 PTCH1
13 endocrine/exocrine gland MP:0005379 10.07 DISP1 DLL1 FGF8 FOXH1 GLI2 PTCH1
14 normal MP:0002873 10.06 DISP1 DLL1 FGF8 FOXH1 GLI2 NODAL
15 muscle MP:0005369 10.01 DISP1 DLL1 FGF8 FOXH1 GLI2 NODAL
16 respiratory system MP:0005388 10 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
17 skeleton MP:0005390 9.97 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
18 vision/eye MP:0005391 9.44 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
19 taste/olfaction MP:0005394 9.35 NODAL PTCH1 SHH SIX3 TGIF1

Drugs & Therapeutics for Septopreoptic Holoprosencephaly

Search Clinical Trials , NIH Clinical Center for Septopreoptic Holoprosencephaly

Genetic Tests for Septopreoptic Holoprosencephaly

Anatomical Context for Septopreoptic Holoprosencephaly

MalaCards organs/tissues related to Septopreoptic Holoprosencephaly:

41
Pituitary, Thyroid

Publications for Septopreoptic Holoprosencephaly

Articles related to Septopreoptic Holoprosencephaly:

# Title Authors Year
1
Thick corpus callosum: a clue to the diagnosis of fetal septopreoptic holoprosencephaly? ( 22006531 )
2012
2
Septopreoptic holoprosencephaly: a mild subtype associated with midline craniofacial anomalies. ( 20488907 )
2010

Variations for Septopreoptic Holoprosencephaly

Expression for Septopreoptic Holoprosencephaly

Search GEO for disease gene expression data for Septopreoptic Holoprosencephaly.

Pathways for Septopreoptic Holoprosencephaly

Pathways related to Septopreoptic Holoprosencephaly according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1 12.63 DLL1 FGF8 GLI2 PTCH1 SHH
2
Show member pathways
12.34 CDON GAS1 GLI2 PTCH1 SHH
3
Show member pathways
12.22 DLL1 FGF8 FOXH1 GLI2 NODAL ZIC2
4 11.98 DLL1 GLI2 PTCH1 SHH TDGF1
5
Show member pathways
11.91 GLI2 PTCH1 SHH
6
Show member pathways
11.86 FGF8 FOXH1 GAS1 TDGF1
7
Show member pathways
11.74 CDON DISP1 GAS1 GLI2 PTCH1 SHH
8
Show member pathways
11.37 FOXH1 NODAL TDGF1
9 11.33 FGF8 NODAL SHH
10 11.3 FGF8 FOXH1 SHH
11 11.2 GLI2 PTCH1 SHH
12 11.02 FGF8 GLI2 SHH
13 10.58 DLL1 FGF8
14
Show member pathways
10.5 CDON GAS1 GLI2 PTCH1 SHH
15 10.43 PTCH1 SHH
16 10.21 FGF8 NODAL SHH TGIF1

GO Terms for Septopreoptic Holoprosencephaly

Biological processes related to Septopreoptic Holoprosencephaly according to GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.96 NODAL PTCH1 SIX3 ZIC2
2 in utero embryonic development GO:0001701 9.93 GLI2 NODAL PTCH1
3 regulation of cell proliferation GO:0042127 9.92 PTCH1 SHH SIX3
4 multicellular organism development GO:0007275 9.91 DISP1 DLL1 FGF8 GLI2 NODAL SHH
5 heart development GO:0007507 9.89 FGF8 GLI2 NODAL SHH TDGF1
6 kidney development GO:0001822 9.88 FGF8 GLI2 SHH
7 BMP signaling pathway GO:0030509 9.85 FGF8 NODAL TDGF1
8 pattern specification process GO:0007389 9.82 GLI2 PTCH1 SHH
9 negative regulation of cell differentiation GO:0045596 9.82 DLL1 NODAL SHH
10 lung development GO:0030324 9.81 FGF8 GLI2 NODAL SHH
11 branching involved in ureteric bud morphogenesis GO:0001658 9.78 FGF8 PTCH1 SHH
12 mammary gland development GO:0030879 9.76 GLI2 PTCH1 TDGF1
13 smoothened signaling pathway GO:0007224 9.76 CDON GLI2 PTCH1 SHH
14 gastrulation GO:0007369 9.75 FGF8 NODAL
15 metanephros development GO:0001656 9.75 FGF8 SHH
16 odontogenesis GO:0042476 9.75 FGF8 SHH
17 embryonic organ development GO:0048568 9.75 PTCH1 SHH
18 pituitary gland development GO:0021983 9.75 GLI2 SIX3
19 developmental growth GO:0048589 9.75 GAS1 GLI2 SHH
20 telencephalon development GO:0021537 9.74 FGF8 SIX3
21 branching involved in blood vessel morphogenesis GO:0001569 9.74 FGF8 SHH
22 embryonic hindlimb morphogenesis GO:0035116 9.74 FGF8 SHH
23 branching morphogenesis of an epithelial tube GO:0048754 9.74 GLI2 SHH
24 vasculature development GO:0001944 9.74 NODAL SHH
25 regulation of smoothened signaling pathway GO:0008589 9.74 GAS1 GLI2 PTCH1
26 thyroid gland development GO:0030878 9.73 FGF8 SHH
27 proximal/distal pattern formation GO:0009954 9.73 DLL1 GLI2
28 limb morphogenesis GO:0035108 9.73 FGF8 PTCH1
29 renal system development GO:0072001 9.73 PTCH1 SHH
30 dopaminergic neuron differentiation GO:0071542 9.73 FGF8 SHH
31 cell fate commitment GO:0045165 9.73 FGF8 GAS1 NODAL SHH
32 embryo development ending in birth or egg hatching GO:0009792 9.72 FGF8 TDGF1
33 hindbrain development GO:0030902 9.72 GLI2 SHH
34 lung morphogenesis GO:0060425 9.72 FGF8 SHH
35 embryonic heart tube development GO:0035050 9.72 FGF8 NODAL
36 cell fate specification GO:0001708 9.72 CDON SHH
37 anatomical structure formation involved in morphogenesis GO:0048646 9.72 GLI2 NODAL SHH
38 male genitalia development GO:0030539 9.71 FGF8 SHH
39 osteoblast development GO:0002076 9.71 GLI2 SHH
40 cell fate determination GO:0001709 9.71 DLL1 PTCH1
41 pharyngeal system development GO:0060037 9.71 FGF8 PTCH1
42 embryonic morphogenesis GO:0048598 9.71 CDON SHH
43 embryonic pattern specification GO:0009880 9.71 DISP1 NODAL SHH
44 somite development GO:0061053 9.7 PTCH1 SHH
45 aorta morphogenesis GO:0035909 9.7 FGF8 FOXH1
46 digestive tract morphogenesis GO:0048546 9.7 NODAL SHH
47 spinal cord motor neuron differentiation GO:0021522 9.7 GLI2 PTCH1 SHH
48 negative regulation of androgen receptor signaling pathway GO:0060766 9.69 FOXH1 NODAL
49 prostate gland development GO:0030850 9.69 PTCH1 SHH
50 striated muscle cell differentiation GO:0051146 9.69 CDON SHH

Molecular functions related to Septopreoptic Holoprosencephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.65 FOXH1 GLI2 SIX3 TGIF1 ZIC2
2 growth factor activity GO:0008083 9.5 FGF8 NODAL TDGF1
3 co-SMAD binding GO:0070410 9.16 FOXH1 TGIF1
4 patched binding GO:0005113 8.96 PTCH1 SHH
5 morphogen activity GO:0016015 8.62 NODAL SHH

Sources for Septopreoptic Holoprosencephaly

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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