MCID: SPT016
MIFTS: 36

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 58
Septopreoptic Hpe 58

Characteristics:

Orphanet epidemiological data:

58
septopreoptic holoprosencephaly
Inheritance: Multigenic/multifactorial; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Septopreoptic Holoprosencephaly

MalaCards based summary : Septopreoptic Holoprosencephaly, also known as septopreoptic hpe, is related to microcephaly and solitary median maxillary central incisor. An important gene associated with Septopreoptic Holoprosencephaly is CDON (Cell Adhesion Associated, Oncogene Regulated), and among its related pathways/superpathways are Pathways in cancer and Signaling by Hedgehog. Affiliated tissues include brain and pons, and related phenotypes are intellectual disability and precocious puberty

Related Diseases for Septopreoptic Holoprosencephaly

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

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 microcephaly 28.8 ZIC2 SHH PTCH1 GLI2 FGF8 CDON
2 solitary median maxillary central incisor 27.1 ZIC2 TGIF1 SIX3 SHH PTCH1 NODAL
3 holoprosencephaly 26.7 ZIC2 TGIF1 TDGF1 SIX3 SHH PTCH1
4 tooth size 10.1 SHH FGF8
5 calcifying epithelial odontogenic tumor 10.1 PTCH1 GLI2
6 macrocephaly/megalencephaly syndrome, autosomal recessive 10.1
7 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
8 learning disability 10.1
9 polymicrogyria 10.1
10 encephalocele 10.1
11 megalencephaly 10.1
12 rhombencephalosynapsis 10.1
13 holoprosencephaly 8 10.0 ZIC2 DISP1 CDON
14 polydactyly, preaxial ii 10.0 SHH PTCH1
15 double outlet right ventricle 10.0 NODAL FOXH1 FGF8
16 cerebellum cancer 10.0 SHH PTCH1
17 central nervous system lipoma 10.0 ZIC2 SIX3
18 cerebellar medulloblastoma 10.0 SHH PTCH1
19 anus, imperforate 10.0 SHH GLI2 FGF8
20 brachydactyly, type a1 10.0 SHH PTCH1 CDON
21 keratocystic odontogenic tumor 9.9 SHH PTCH1
22 melanotic medulloblastoma 9.9 SHH PTCH1 GLI2
23 nodular medulloblastoma 9.9 SHH PTCH1 GLI2
24 adult medulloblastoma 9.9 SHH PTCH1 GLI2
25 greig cephalopolysyndactyly syndrome 9.9 SHH PTCH1 GLI2
26 holoprosencephaly, recurrent infections, and monocytosis 9.9 SIX3 PTCH1 GLI2
27 skeletal muscle cancer 9.9 SHH PTCH1 GLI2
28 infratentorial cancer 9.9 SHH PTCH1 GLI2
29 orofaciodigital syndrome viii 9.9 ZIC2 SIX3 DISP1
30 focal dermal hypoplasia 9.8 SHH PTCH1
31 ellis-van creveld syndrome 9.8 SHH PTCH1 GLI2
32 hypopituitarism 9.8 SIX3 SHH GLI2
33 colobomatous microphthalmia 9.8 SIX3 SHH PTCH1
34 chromosome 2q35 duplication syndrome 9.8 SHH PTCH1 GLI2 FGF8
35 tetralogy of fallot 9.7 SHH NODAL FOXH1 FGF8
36 septooptic dysplasia 9.7 SIX3 SHH GLI2 FGF8
37 cleft palate, isolated 9.7 SHH PTCH1 GLI2 FGF8
38 basal cell nevus syndrome 9.6 SHH PTCH1 GLI2 GAS1 CDON
39 basal cell carcinoma 9.6 SHH PTCH1 GLI2 GAS1
40 corpus callosum lipoma 9.6 ZIC2 SIX3 SHH GLI2
41 microphthalmia 9.6 SIX3 SHH PTCH1 GLI2
42 cerebral hemisphere lipoma 9.6 ZIC2 SIX3 SHH GLI2
43 chromosome 18p deletion syndrome 9.6 ZIC2 TGIF1 SIX3
44 pituitary hypoplasia 9.5 TGIF1 SHH
45 holoprosencephaly 3 9.5 ZIC2 SIX3 SHH GLI2 DISP1
46 holoprosencephaly 2 9.3 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
47 patau syndrome 9.3 ZIC2 SIX3 SHH NODAL FOXH1 DISP1
48 coloboma of macula 9.3 ZIC2 SIX3 SHH PTCH1 FGF8 CDON
49 physical disorder 9.2 ZIC2 SIX3 SHH PTCH1 GLI2 FGF8
50 orofacial cleft 9.2 ZIC2 SIX3 SHH PTCH1 GLI2 FGF8

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



Diseases related to Septopreoptic Holoprosencephaly

Symptoms & Phenotypes for Septopreoptic Holoprosencephaly

Human phenotypes related to Septopreoptic Holoprosencephaly:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 precocious puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000826
3 abnormal vertebral morphology 58 31 frequent (33%) Frequent (79-30%) HP:0003468
4 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
5 anterior hypopituitarism 58 31 frequent (33%) Frequent (79-30%) HP:0000830
6 abnormality of the ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000772
7 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
8 impulsivity 58 31 frequent (33%) Frequent (79-30%) HP:0100710
9 short attention span 58 31 frequent (33%) Frequent (79-30%) HP:0000736
10 expressive language delay 58 31 frequent (33%) Frequent (79-30%) HP:0002474
11 central diabetes insipidus 58 31 frequent (33%) Frequent (79-30%) HP:0000863
12 abnormal corpus callosum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001273
13 abnormality of midbrain morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002418
14 megalencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001355
15 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
16 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
17 coarctation of aorta 58 31 occasional (7.5%) Occasional (29-5%) HP:0001680
18 anteriorly placed anus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001545
19 gastrostomy tube feeding in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0011471
20 hypoplasia of the pons 58 31 occasional (7.5%) Occasional (29-5%) HP:0012110
21 abnormality of the septum pellucidum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007375
22 perisylvian polymicrogyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0012650
23 ethmoidal encephalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0004478
24 rhombencephalosynapsis 58 31 occasional (7.5%) Occasional (29-5%) HP:0031913

MGI Mouse Phenotypes related to Septopreoptic Holoprosencephaly:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.37 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
2 cardiovascular system MP:0005385 10.35 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
3 cellular MP:0005384 10.34 CDON DISP1 DLL1 FGF8 GAS1 GLI2
4 craniofacial MP:0005382 10.33 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
5 growth/size/body region MP:0005378 10.31 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
6 digestive/alimentary MP:0005381 10.28 CDON DISP1 DLL1 FGF8 FOXH1 GLI2
7 mortality/aging MP:0010768 10.28 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
8 behavior/neurological MP:0005386 10.27 CDON DLL1 FGF8 GAS1 GLI2 NODAL
9 nervous system MP:0003631 10.21 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
10 limbs/digits/tail MP:0005371 10.16 CDON DISP1 DLL1 FGF8 GAS1 GLI2
11 endocrine/exocrine gland MP:0005379 10.11 DISP1 DLL1 FGF8 FOXH1 GLI2 PTCH1
12 hearing/vestibular/ear MP:0005377 10.08 DLL1 FGF8 FOXH1 GAS1 GLI2 PTCH1
13 normal MP:0002873 10.06 DISP1 DLL1 FGF8 FOXH1 GLI2 NODAL
14 respiratory system MP:0005388 10.03 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
15 muscle MP:0005369 10.01 DISP1 DLL1 FGF8 FOXH1 GLI2 NODAL
16 skeleton MP:0005390 9.97 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
17 vision/eye MP:0005391 9.44 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
18 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:

40
Brain, Pons

Publications for Septopreoptic Holoprosencephaly

Articles related to Septopreoptic Holoprosencephaly:

# Title Authors PMID Year
1
Septopreoptic holoprosencephaly in intracranial abnormalities: an under-diagnosed midline finding. 61
32103291 2020
2
Thick corpus callosum: a clue to the diagnosis of fetal septopreoptic holoprosencephaly? 61
22006531 2012
3
Septopreoptic holoprosencephaly: a mild subtype associated with midline craniofacial anomalies. 61
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 12.66 SHH PTCH1 GLI2 FGF8 DLL1
2
Show member pathways
12.37 SHH PTCH1 GLI2 GAS1 CDON
3
Show member pathways
12.22 ZIC2 NODAL GLI2 FOXH1 FGF8 DLL1
4 11.98 TDGF1 SHH PTCH1 GLI2 DLL1
5
Show member pathways
11.4 TDGF1 NODAL FOXH1
6 11.37 SHH NODAL FGF8
7 11.33 SHH FOXH1 FGF8
8 11.3 SHH PTCH1 GLI2
9 11.22 SHH PTCH1 GLI2
10 11.06 SHH GLI2 FGF8
11
Show member pathways
10.87 SHH PTCH1 GLI2 GAS1 CDON
12 10.85 SHH PTCH1 GLI2 GAS1 DISP1 CDON
13
Show member pathways
10.82 SHH PTCH1 GLI2
14 10.6 FGF8 DLL1
15 10.45 SHH PTCH1
16 10.41 TGIF1 SHH NODAL FGF8

GO Terms for Septopreoptic Holoprosencephaly

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

(show top 50) (show all 71)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.14 ZIC2 TDGF1 GLI2 FGF8 DLL1
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.11 SIX3 SHH NODAL GLI2 FOXH1 DLL1
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.1 TGIF1 SHH PTCH1 NODAL GLI2 FOXH1
4 positive regulation of transcription, DNA-templated GO:0045893 10.09 ZIC2 SHH PTCH1 GLI2 FOXH1
5 positive regulation of cell proliferation GO:0008284 10 TDGF1 SHH NODAL GLI2 FGF8 DLL1
6 brain development GO:0007420 9.96 ZIC2 SIX3 PTCH1 NODAL
7 multicellular organism development GO:0007275 9.92 ZIC2 SIX3 SHH NODAL GLI2 FGF8
8 kidney development GO:0001822 9.89 SHH GLI2 FGF8
9 heart development GO:0007507 9.88 TDGF1 SHH NODAL GLI2 FGF8
10 anatomical structure development GO:0048856 9.81 TDGF1 SHH GLI2
11 negative regulation of cell differentiation GO:0045596 9.81 SHH NODAL DLL1
12 lung development GO:0030324 9.81 SHH NODAL GLI2 FGF8
13 pattern specification process GO:0007389 9.79 SHH PTCH1 GLI2
14 branching involved in ureteric bud morphogenesis GO:0001658 9.77 SHH PTCH1 FGF8
15 branching involved in blood vessel morphogenesis GO:0001569 9.74 SHH FGF8
16 pituitary gland development GO:0021983 9.74 SIX3 GLI2
17 embryonic hindlimb morphogenesis GO:0035116 9.74 SHH FGF8
18 hair follicle morphogenesis GO:0031069 9.74 SHH GLI2
19 telencephalon development GO:0021537 9.74 SIX3 FGF8
20 branching morphogenesis of an epithelial tube GO:0048754 9.74 SHH GLI2
21 negative regulation of smoothened signaling pathway GO:0045879 9.73 PTCH1 GLI2
22 vasculature development GO:0001944 9.73 SHH NODAL
23 proximal/distal pattern formation GO:0009954 9.73 GLI2 DLL1
24 limb morphogenesis GO:0035108 9.73 PTCH1 FGF8
25 dopaminergic neuron differentiation GO:0071542 9.73 SHH FGF8
26 thyroid gland development GO:0030878 9.73 SHH FGF8
27 mammary gland development GO:0030879 9.73 TDGF1 PTCH1 GLI2
28 cell fate commitment GO:0045165 9.73 SHH NODAL GAS1 FGF8
29 embryo development ending in birth or egg hatching GO:0009792 9.72 TDGF1 FGF8
30 regulation of smoothened signaling pathway GO:0008589 9.72 PTCH1 GAS1
31 lung morphogenesis GO:0060425 9.72 SHH FGF8
32 embryonic morphogenesis GO:0048598 9.72 SHH CDON
33 embryonic pattern specification GO:0009880 9.72 SHH NODAL DISP1
34 striated muscle cell differentiation GO:0051146 9.71 SHH CDON
35 hindbrain development GO:0030902 9.71 SHH GLI2
36 cell fate determination GO:0001709 9.71 PTCH1 DLL1
37 pharyngeal system development GO:0060037 9.71 PTCH1 FGF8
38 male genitalia development GO:0030539 9.71 SHH FGF8
39 developmental growth GO:0048589 9.71 SHH GLI2 GAS1
40 smoothened signaling pathway GO:0007224 9.71 SHH PTCH1 GLI2 CDON
41 osteoblast development GO:0002076 9.7 SHH GLI2
42 somite development GO:0061053 9.7 SHH PTCH1
43 embryonic heart tube development GO:0035050 9.7 NODAL FGF8
44 aorta morphogenesis GO:0035909 9.7 FOXH1 FGF8
45 negative regulation of androgen receptor signaling pathway GO:0060766 9.69 NODAL FOXH1
46 digestive tract morphogenesis GO:0048546 9.69 SHH NODAL
47 prostate gland development GO:0030850 9.68 SHH PTCH1
48 branching involved in salivary gland morphogenesis GO:0060445 9.68 SHH FGF8
49 smooth muscle tissue development GO:0048745 9.68 SHH PTCH1
50 cell proliferation in forebrain GO:0021846 9.68 SIX3 FGF8

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 TDGF1 NODAL FGF8
2 co-SMAD binding GO:0070410 9.16 TGIF1 FOXH1
3 patched binding GO:0005113 8.96 SHH PTCH1
4 morphogen activity GO:0016015 8.62 SHH NODAL

Sources for Septopreoptic Holoprosencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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