MCID: SPT016
MIFTS: 31

Septopreoptic Holoprosencephaly

Categories: Neuronal diseases, Endocrine diseases, Fetal 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 acquired schizencephaly. An important gene associated with Septopreoptic Holoprosencephaly is SHH (Sonic Hedgehog), and among its related pathways/superpathways are Pathways in cancer and Signaling by Hedgehog. 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 31)
# Related Disease Score Top Affiliating Genes
1 holoprosencephaly 22.7 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
2 acquired schizencephaly 10.7 SHH SIX3
3 holoprosencephaly 7 10.5 NODAL PTCH1
4 calcifying epithelial odontogenic tumor 10.5 GLI2 PTCH1
5 holoprosencephaly 5 10.4 TGIF1 ZIC2
6 tooth size 10.3 FGF8 SHH
7 nodular medulloblastoma 10.3 GLI2 PTCH1
8 holoprosencephaly 4 10.3 SHH TGIF1 ZIC2
9 holoprosencephaly, recurrent infections, and monocytosis 10.3 GLI2 PTCH1 SIX3
10 holoprosencephaly 8 10.3 DISP1 TGIF1
11 bardet-biedl syndrome 17 10.3 GLI2 PTCH1 SHH
12 infratentorial cancer 10.2 GLI2 PTCH1 SHH
13 integumentary system cancer 10.2 GLI2 PTCH1 SHH
14 pallister-hall syndrome 10.2 GLI2 SHH
15 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.1 GLI2 SHH
16 duodenal obstruction 10.1 CDON NODAL
17 pituitary stalk interruption syndrome 10.0 CDON SHH TGIF1
18 chromosome 18p deletion syndrome 10.0 NODAL SHH SIX3 ZIC2
19 brachydactyly, type a1 10.0 PTCH1 SHH
20 congenital nervous system abnormality 10.0 NODAL SHH SIX3 ZIC2
21 patau syndrome 9.7 DISP1 NODAL SIX3 ZIC2
22 holoprosencephaly 1 9.7 GAS1 SHH SIX3
23 orofacial cleft 9.7 FGF8 NODAL SHH
24 agnathia-otocephaly complex 9.6 FGF8 GLI2 NODAL SHH
25 physical disorder 9.4 FGF8 NODAL SHH SIX3 ZIC2
26 basal cell nevus syndrome 9.3 GAS1 GLI2 PTCH1 SHH
27 microform holoprosencephaly 4.6 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
28 semilobar holoprosencephaly 4.6 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
29 midline interhemispheric variant of holoprosencephaly 4.6 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
30 lobar holoprosencephaly 4.6 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
31 alobar holoprosencephaly 4.6 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 FOXH1 GAS1 GLI2 NODAL PTCH1 SHH
2 cardiovascular system MP:0005385 10.35 GAS1 NODAL PTCH1 SHH TDGF1 TGIF1
3 cellular MP:0005384 10.35 CDON DISP1 DLL1 FGF8 GAS1 GLI2
4 craniofacial MP:0005382 10.34 NODAL PTCH1 SHH SIX3 TGIF1 ZIC2
5 growth/size/body region MP:0005378 10.32 TGIF1 ZIC2 CDON DISP1 DLL1 FGF8
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 SHH SIX3
10 homeostasis/metabolism MP:0005376 10.18 DISP1 DLL1 FGF8 FOXH1 GAS1 GLI2
11 limbs/digits/tail MP:0005371 10.16 DISP1 DLL1 FGF8 GAS1 GLI2 PTCH1
12 hearing/vestibular/ear MP:0005377 10.1 DLL1 FGF8 FOXH1 GAS1 GLI2 PTCH1
13 endocrine/exocrine gland MP:0005379 10.07 FGF8 FOXH1 GLI2 PTCH1 SHH DISP1
14 normal MP:0002873 10.06 DISP1 DLL1 FGF8 FOXH1 GLI2 NODAL
15 muscle MP:0005369 10.01 DLL1 FGF8 FOXH1 GLI2 NODAL PTCH1
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

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
10.54 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 72)
# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.97 NODAL PTCH1 SIX3 ZIC2
2 multicellular organism development GO:0007275 9.97 DISP1 DLL1 FGF8 GLI2 NODAL SHH
3 heart development GO:0007507 9.88 FGF8 GLI2 NODAL SHH TDGF1
4 kidney development GO:0001822 9.87 FGF8 GLI2 SHH
5 BMP signaling pathway GO:0030509 9.86 FGF8 NODAL TDGF1
6 negative regulation of cell differentiation GO:0045596 9.83 DLL1 NODAL SHH
7 pattern specification process GO:0007389 9.82 GLI2 PTCH1 SHH
8 lung development GO:0030324 9.81 FGF8 GLI2 NODAL SHH
9 branching involved in ureteric bud morphogenesis GO:0001658 9.79 FGF8 PTCH1 SHH
10 mammary gland development GO:0030879 9.77 GLI2 PTCH1 TDGF1
11 odontogenesis GO:0042476 9.75 FGF8 SHH
12 anatomical structure development GO:0048856 9.75 GLI2 SHH TDGF1
13 branching involved in blood vessel morphogenesis GO:0001569 9.74 FGF8 SHH
14 pituitary gland development GO:0021983 9.74 GLI2 SIX3
15 branching morphogenesis of an epithelial tube GO:0048754 9.74 GLI2 SHH
16 embryonic hindlimb morphogenesis GO:0035116 9.74 FGF8 SHH
17 telencephalon development GO:0021537 9.74 FGF8 SIX3
18 thyroid gland development GO:0030878 9.74 FGF8 SHH
19 developmental growth GO:0048589 9.74 GAS1 GLI2 SHH
20 vasculature development GO:0001944 9.73 NODAL SHH
21 dopaminergic neuron differentiation GO:0071542 9.73 FGF8 SHH
22 limb morphogenesis GO:0035108 9.73 FGF8 PTCH1
23 proximal/distal pattern formation GO:0009954 9.73 DLL1 GLI2
24 renal system development GO:0072001 9.73 PTCH1 SHH
25 hindbrain development GO:0030902 9.73 GLI2 SHH
26 embryonic pattern specification GO:0009880 9.73 DISP1 NODAL SHH
27 embryonic heart tube development GO:0035050 9.72 FGF8 NODAL
28 embryo development ending in birth or egg hatching GO:0009792 9.72 FGF8 TDGF1
29 lung morphogenesis GO:0060425 9.72 FGF8 SHH
30 cell fate specification GO:0001708 9.72 CDON SHH
31 male genitalia development GO:0030539 9.72 FGF8 SHH
32 anatomical structure formation involved in morphogenesis GO:0048646 9.72 GLI2 NODAL SHH
33 cell fate determination GO:0001709 9.71 DLL1 PTCH1
34 osteoblast development GO:0002076 9.71 GLI2 SHH
35 pharyngeal system development GO:0060037 9.71 FGF8 PTCH1
36 striated muscle cell differentiation GO:0051146 9.71 CDON SHH
37 embryonic morphogenesis GO:0048598 9.71 CDON SHH
38 cell fate commitment GO:0045165 9.71 FGF8 GAS1 NODAL SHH
39 somite development GO:0061053 9.7 PTCH1 SHH
40 aorta morphogenesis GO:0035909 9.7 FGF8 FOXH1
41 digestive tract morphogenesis GO:0048546 9.7 NODAL SHH
42 regulation of smoothened signaling pathway GO:0008589 9.7 GAS1 GLI2 PTCH1
43 negative regulation of androgen receptor signaling pathway GO:0060766 9.69 FOXH1 NODAL
44 cell proliferation in forebrain GO:0021846 9.69 FGF8 SIX3
45 branching involved in salivary gland morphogenesis GO:0060445 9.68 FGF8 SHH
46 positive regulation of T cell differentiation in thymus GO:0033089 9.68 GLI2 SHH
47 nodal signaling pathway GO:0038092 9.68 NODAL TDGF1
48 positive regulation of skeletal muscle tissue development GO:0048643 9.67 CDON SHH
49 spinal cord motor neuron differentiation GO:0021522 9.67 GLI2 PTCH1 SHH
50 dorsal/ventral pattern formation GO:0009953 9.67 DISP1 GLI2 PTCH1 SHH

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

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.43 FGF8 NODAL TDGF1
2 co-SMAD binding GO:0070410 9.16 FOXH1 TGIF1
3 patched binding GO:0005113 8.96 PTCH1 SHH
4 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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