MCID: SML028
MIFTS: 36

Semilobar Holoprosencephaly

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

Aliases & Classifications for Semilobar Holoprosencephaly

MalaCards integrated aliases for Semilobar Holoprosencephaly:

Name: Semilobar Holoprosencephaly 56 29 52 69

Characteristics:

Orphanet epidemiological data:

56
semilobar holoprosencephaly
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 56 ORPHA220386
UMLS via Orphanet 70 C0751617
ICD10 via Orphanet 34 Q04.2

Summaries for Semilobar Holoprosencephaly

MalaCards based summary : Semilobar Holoprosencephaly is related to hydrocephalus and holoprosencephaly, semilobar, with craniosynostosis. An important gene associated with Semilobar Holoprosencephaly is SHH (Sonic Hedgehog), and among its related pathways/superpathways are NF-KappaB Family Pathway and Pathways in cancer. Affiliated tissues include pancreas, and related phenotypes are embryo and cardiovascular system

Related Diseases for Semilobar Holoprosencephaly

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

(show all 45)
id Related Disease Score Top Affiliating Genes
1 hydrocephalus 26.2 CDON FGF8 FGFR1 GLI2 NODAL PTCH1
2 holoprosencephaly, semilobar, with craniosynostosis 11.7
3 holoprosencephaly 10.7
4 fas-related autoimmune lymphoproliferative syndrome 10.7 SHH SIX3
5 alopecia areata 1 10.5 SHH TGIF1
6 microphthalmia with coloboma 5 10.5 SHH SIX3 TGIF1
7 camptocormism 10.4 GLI2 PTCH1
8 holoprosencephaly 2 10.4 SHH SIX3
9 xeroderma pigmentosum, group a 10.4 NODAL PTCH1
10 cataract 44 10.4 SHH SIX3
11 hypotrichosis of eyelid 10.4 NODAL SIX3 ZIC2
12 polydactyly, preaxial, type iv 10.3 GAS1 GLI2 SHH
13 homocystinuria due to defect in methylation cbl g 10.3 GLI2 PTCH1 SIX3
14 ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency 10.3 DISP1 TGIF1
15 macular dystrophy, patterned, 3 10.3 GLI2 PTCH1 SHH
16 skin hemangioma 10.3 GLI2 PTCH1 SHH
17 pityriasis rotunda 10.3 CDON SHH TGIF1
18 heavy chain disease 10.3 GLI2 PTCH1 SHH
19 lateral sinus thrombosis 10.3 CDON NODAL
20 functional colonic disease 10.2 GLI2 PTCH1
21 majeed syndrome 10.2 NODAL SHH SIX3 ZIC2
22 angiodysplasia 10.2 NODAL SHH SIX3 ZIC2
23 seckel syndrome 10.1
24 agnathia-otocephaly complex 10.0 FGF8 GLI2 NODAL SHH
25 basal cell nevus syndrome 10.0 GAS1 GLI2 PTCH1 SHH
26 epilepsy, juvenile myoclonic 9 10.0 PTCH1 SHH
27 thanatophoric dysplasia, type ii 9.9
28 down syndrome 9.9
29 craniosynostosis 9.9
30 lissencephaly 9.9
31 cerebritis 9.9
32 neuronitis 9.9
33 encephalocele 9.9
34 hydrops fetalis 9.9
35 orchitis 9.9 GLI2 PTCH1 SHH
36 encephalocraniocutaneous lipomatosis 9.8 FGF8 FGFR1
37 ureter transitional cell carcinoma 9.8 FGFR1 PTCH1
38 shwachman-diamond type metaphyseal dysplasia 9.8 FGF8 NODAL SHH SIX3 ZIC2
39 bladder cancer, somatic 9.5 FGF8 FGFR1 PTCH1
40 sporadic pheochromocytoma 6.1 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
41 celosomia 6.1 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
42 laryngotracheoesophageal cleft type 2 6.0 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
43 pelizaeus-merzbacher disease in female carriers 5.2 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
44 isolated facial myokymia 5.2 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
45 laryngotracheoesophageal cleft type 4 5.2 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1

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



Diseases related to Semilobar Holoprosencephaly

Symptoms & Phenotypes for Semilobar Holoprosencephaly

MGI Mouse Phenotypes related to Semilobar Holoprosencephaly:

44 (show all 21)
id Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.43 DLL1 CDON DISP1 FGF8 FOXH1 FGFR1
2 cardiovascular system MP:0005385 10.4 FGF8 DLL1 CDON DISP1 GAS1 FOXH1
3 cellular MP:0005384 10.4 DISP1 DLL1 CDON GAS1 FGF8 FGFR1
4 craniofacial MP:0005382 10.39 CDON DISP1 FGF8 FOXH1 FGFR1 GAS1
5 growth/size/body region MP:0005378 10.38 DISP1 FGF8 DLL1 CDON GAS1 FOXH1
6 mortality/aging MP:0010768 10.35 DISP1 FGF8 DLL1 CDON GAS1 FOXH1
7 digestive/alimentary MP:0005381 10.31 FGF8 DLL1 CDON FOXH1 FGFR1 NODAL
8 nervous system MP:0003631 10.31 DLL1 CDON DISP1 FGF8 FOXH1 FGFR1
9 behavior/neurological MP:0005386 10.3 DLL1 CDON FGFR1 GAS1 FGF8 GLI2
10 homeostasis/metabolism MP:0005376 10.25 DISP1 DLL1 FGFR1 FGF8 FOXH1 PTCH1
11 limbs/digits/tail MP:0005371 10.24 FGF8 DLL1 CDON DISP1 FGFR1 GAS1
12 endocrine/exocrine gland MP:0005379 10.15 DISP1 DLL1 FGFR1 FGF8 FOXH1 PTCH1
13 normal MP:0002873 10.15 DISP1 FGF8 DLL1 FOXH1 FGFR1 NODAL
14 hearing/vestibular/ear MP:0005377 10.13 DLL1 GAS1 FGF8 FOXH1 FGFR1 GLI2
15 muscle MP:0005369 10.11 DISP1 DLL1 FGF8 FOXH1 FGFR1 NODAL
16 respiratory system MP:0005388 10 FGF8 CDON DISP1 GAS1 FOXH1 NODAL
17 skeleton MP:0005390 10 DLL1 CDON DISP1 FGF8 FOXH1 FGFR1
18 no phenotypic analysis MP:0003012 9.88 FGFR1 FOXH1 PTCH1 NODAL GLI2 SHH
19 renal/urinary system MP:0005367 9.8 DLL1 FGFR1 FGF8 FOXH1 PTCH1 SHH
20 vision/eye MP:0005391 9.47 CDON DISP1 FGF8 FOXH1 FGFR1 GAS1
21 taste/olfaction MP:0005394 9.26 NODAL SIX3 SHH TGIF1

Drugs & Therapeutics for Semilobar Holoprosencephaly

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Clinical and Genetic Studies on Holoprosencephaly Recruiting NCT00088426

Search NIH Clinical Center for Semilobar Holoprosencephaly

Genetic Tests for Semilobar Holoprosencephaly

Genetic tests related to Semilobar Holoprosencephaly:

id Genetic test Affiliating Genes
1 Semilobar Holoprosencephaly 29

Anatomical Context for Semilobar Holoprosencephaly

MalaCards organs/tissues related to Semilobar Holoprosencephaly:

39
Pancreas

Publications for Semilobar Holoprosencephaly

Articles related to Semilobar Holoprosencephaly:

(show all 39)
id Title Authors Year
1
Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report. ( 28525974 )
2017
2
Semilobar holoprosencephaly in a 12-month-old baby boy born to a primigravida patient with type 1 diabetes mellitus: a case report. ( 27998308 )
2016
3
Semilobar Holoprosencephaly Associated with Multiple Malformations in a Foal. ( 25712180 )
2015
4
Variant course of bilateral anterior cerebral artery in semilobar holoprosencephaly. ( 26027553 )
2015
5
Semilobar Holoprosencephaly with Congenital Oropharyngeal Stenosis in a Term Neonate. ( 26495165 )
2015
6
Semilobar holoprosencephaly with 21q22 deletion: an autopsy report. ( 24626384 )
2014
7
Semilobar Holoprosencephaly with Neurogenic Hypernatraemia: Two new cases. ( 23984038 )
2013
8
Prenatal diagnosis of de novo monosomy 7q33-qter associated with hydrops fetalis, semilobar holoprosencephaly, and premaxillary dysgenesis. ( 24411055 )
2013
9
Severe semilobar holoprosencephaly and lissencephaly associated with cebocephaly in a newborn. ( 23072180 )
2012
10
Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. ( 22353298 )
2012
11
Semilobar holoprosencephaly with a unique traversed sylvian sulcus. ( 21208253 )
2011
12
Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis. ( 21204232 )
2011
13
A preterm infant with semilobar holoprosencephaly and hydrocephalus: a case report. ( 20180992 )
2010
14
MR angiography of a 1-year-old girl with semilobar holoprosencephaly. ( 19179426 )
2009
15
Sensory function in severe semilobar holoprosencephaly. ( 19153870 )
2009
16
Semilobar holoprosencephaly with associated cyclopia and radial aplasia: first trimester diagnosis by means of integrating 2D-3D ultrasound. ( 19221775 )
2009
17
Down syndrome (trisomy 21) with premaxillary agenesis and semilobar holoprosencephaly. ( 19876909 )
2009
18
Semilobar holoprosencephaly in Seckel syndrome. ( 18537018 )
2008
19
Early prenatal diagnosis of semilobar holoprosencephaly combined with a dorsal cyst and no facial defect. ( 19126512 )
2008
20
Prenatal MRI image of a fetus with semilobar holoprosencephaly. ( 21654965 )
2008
21
Semilobar holoprosencephaly prenatal diagnosis: an unexpected complex rearrangement in a de novo apparently balanced reciprocal translocation on karyotype. ( 17269127 )
2007
22
Discordant semilobar holoprosencephaly in monozygotic twins with de novo inv dup(15) marker chromosome and de novo mutation on SHH gene. ( 17556830 )
2007
23
Coincidence of semilobar holoprosencephaly and Chiari II malformation: correlation of prenatal diagnostics and neuropathologic findings. ( 16901451 )
2006
24
Semilobar holoprosencephaly seen with diffusion tensor imaging and fiber tracking. ( 16155174 )
2005
25
Congenital nasal pyriform aperture stenosis with semilobar holoprosencephaly. ( 15627454 )
2005
26
CNS findings in three cases of septo-optic dysplasia, including one with semilobar holoprosencephaly. ( 15942946 )
2005
27
Semilobar holoprosencephaly in a Morgan horse. ( 15954555 )
2005
28
Dendritic overgrowth and alterations in laminar phenotypes of neocortical neurons in the newborn with semilobar holoprosencephaly. ( 12536031 )
2003
29
Semilobar holoprosencephaly with midline 'seam': a topologic and morphogenetic model based upon MRI analysis. ( 14615296 )
2003
30
Semilobar holoprosencephaly diagnosed by MRI. ( 12152724 )
2002
31
Semilobar holoprosencephaly, coronal craniosynostosis, and multiple congenital anomalies: a severe expression of the Genoa syndrome or a newly recognized syndrome? ( 11484203 )
2001
32
Semilobar holoprosencephaly in a 46,XY female fetus. ( 11746125 )
2001
33
On the association profound nerve deafness, semilobar holoprosencephaly, and minor midline developmental anomalies. ( 10631930 )
1999
34
Generalized chorea in an infant with semilobar holoprosencephaly. ( 8771177 )
1995
35
Sonography of facial features of alobar and semilobar holoprosencephaly. ( 2104699 )
1990
36
Semilobar holoprosencephaly with associated Arnold-Chiari variant. ( 2499604 )
1989
37
Semilobar holoprosencephaly: embryologic, CSF dynamics and radiological considerations. ( 3962751 )
1986
38
In utero sonographic diagnosis of semilobar holoprosencephaly. ( 3914909 )
1985
39
Prenatal diagnosis of semilobar holoprosencephaly. ( 6607617 )
1984

Variations for Semilobar Holoprosencephaly

ClinVar genetic disease variations for Semilobar Holoprosencephaly:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FGFR1 NM_023110.2(FGFR1): c.1977+1G> A single nucleotide variant Likely pathogenic rs876661334 GRCh38 Chromosome 8, 38414778: 38414778
2 FGF8 NM_033163.3(FGF8): c.356C> T (p.Thr119Met) single nucleotide variant Likely pathogenic rs876661329 GRCh37 Chromosome 10, 103531308: 103531308
3 FGF8 NM_033163.3(FGF8): c.317C> A (p.Ala106Glu) single nucleotide variant Likely pathogenic rs876661328 GRCh38 Chromosome 10, 101774752: 101774752

Expression for Semilobar Holoprosencephaly

Search GEO for disease gene expression data for Semilobar Holoprosencephaly.

Pathways for Semilobar Holoprosencephaly

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

(show all 19)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.49 FGF8 FGFR1 GAS1 TDGF1
2 12.47 FGF8 FGFR1 GLI2 PTCH1 SHH
3
Show member pathways
12.34 CDON GAS1 GLI2 PTCH1 SHH
4
Show member pathways
12.28 DLL1 FGF8 FGFR1 FOXH1 GLI2 NODAL
5 11.98 DLL1 GLI2 PTCH1 SHH TDGF1
6 11.74 DLL1 FGF8 FGFR1
7
Show member pathways
11.74 CDON DISP1 GAS1 GLI2 PTCH1 SHH
8 11.62 FGF8 FGFR1 SHH
9 11.56 FGF8 FGFR1 GAS1 TDGF1
10
Show member pathways
11.39 FOXH1 NODAL TDGF1
11 11.35 FGF8 NODAL SHH
12 11.3 FGF8 FOXH1 SHH
13 11.2 GLI2 PTCH1 SHH
14 11.02 FGF8 GLI2 SHH
15 11 FGFR1 TDGF1
16 10.59 DLL1 FGF8
17
Show member pathways
10.5 CDON GAS1 GLI2 PTCH1 SHH
18 10.43 PTCH1 SHH
19 10.21 FGF8 NODAL SHH TGIF1

GO Terms for Semilobar Holoprosencephaly

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

(show top 50) (show all 70)
id Name GO ID Score Top Affiliating Genes
1 regulation of cell proliferation GO:0042127 9.98 FGFR1 PTCH1 SHH SIX3
2 positive regulation of cell proliferation GO:0008284 9.98 DLL1 FGF8 FGFR1 GLI2 NODAL SHH
3 brain development GO:0007420 9.97 FGFR1 NODAL PTCH1 SIX3 ZIC2
4 in utero embryonic development GO:0001701 9.96 FGFR1 GLI2 NODAL PTCH1
5 heart development GO:0007507 9.96 FGF8 GLI2 NODAL SHH TDGF1
6 kidney development GO:0001822 9.89 FGF8 GLI2 SHH
7 positive regulation of neuron differentiation GO:0045666 9.87 CDON FGFR1 GLI2
8 negative regulation of cell differentiation GO:0045596 9.85 DLL1 NODAL SHH
9 embryonic limb morphogenesis GO:0030326 9.83 FGFR1 PTCH1 SHH
10 branching involved in ureteric bud morphogenesis GO:0001658 9.8 FGF8 PTCH1 SHH
11 mammary gland development GO:0030879 9.78 GLI2 PTCH1 TDGF1
12 cell fate commitment GO:0045165 9.78 FGF8 GAS1 NODAL SHH
13 developmental growth GO:0048589 9.77 GAS1 GLI2 SHH
14 embryonic pattern specification GO:0009880 9.77 DISP1 NODAL SHH
15 regulation of smoothened signaling pathway GO:0008589 9.76 GAS1 GLI2 PTCH1
16 pattern specification process GO:0007389 9.76 DISP1 GLI2 PTCH1 SHH
17 telencephalon development GO:0021537 9.74 FGF8 SIX3
18 thyroid gland development GO:0030878 9.74 FGF8 SHH
19 vasculature development GO:0001944 9.74 NODAL SHH
20 dopaminergic neuron differentiation GO:0071542 9.74 FGF8 SHH
21 limb morphogenesis GO:0035108 9.74 FGF8 PTCH1
22 proximal/distal pattern formation GO:0009954 9.74 DLL1 GLI2
23 spinal cord motor neuron differentiation GO:0021522 9.74 GLI2 PTCH1 SHH
24 hindbrain development GO:0030902 9.73 GLI2 SHH
25 renal system development GO:0072001 9.73 PTCH1 SHH
26 lung morphogenesis GO:0060425 9.73 FGF8 SHH
27 embryonic heart tube development GO:0035050 9.73 FGF8 NODAL
28 male genitalia development GO:0030539 9.73 FGF8 SHH
29 pharyngeal system development GO:0060037 9.73 FGF8 PTCH1
30 cell fate determination GO:0001709 9.72 DLL1 PTCH1
31 osteoblast development GO:0002076 9.72 GLI2 SHH
32 cell fate specification GO:0001708 9.72 CDON SHH
33 somite development GO:0061053 9.72 PTCH1 SHH
34 anatomical structure development GO:0048856 9.72 GLI2 SHH
35 anatomical structure formation involved in morphogenesis GO:0048646 9.72 GLI2 NODAL SHH
36 anterior/posterior pattern specification GO:0009952 9.72 CDON FOXH1 GLI2 NODAL SHH
37 embryonic morphogenesis GO:0048598 9.71 CDON SHH
38 digestive tract morphogenesis GO:0048546 9.71 NODAL SHH
39 aorta morphogenesis GO:0035909 9.71 FGF8 FOXH1
40 striated muscle cell differentiation GO:0051146 9.71 CDON SHH
41 dorsal/ventral pattern formation GO:0009953 9.71 DISP1 GLI2 PTCH1 SHH
42 generation of neurons GO:0048699 9.7 FGF8 FGFR1
43 negative regulation of androgen receptor signaling pathway GO:0060766 9.7 FOXH1 NODAL
44 cell proliferation in forebrain GO:0021846 9.7 FGF8 SIX3
45 organ induction GO:0001759 9.69 FGF8 FGFR1
46 lung-associated mesenchyme development GO:0060484 9.69 FGFR1 SHH
47 dorsal/ventral neural tube patterning GO:0021904 9.69 GLI2 PTCH1 SHH
48 positive regulation of T cell differentiation in thymus GO:0033089 9.68 GLI2 SHH
49 positive regulation of skeletal muscle tissue development GO:0048643 9.68 CDON SHH
50 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.67 GLI2 PTCH1

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

id Name GO ID Score Top Affiliating Genes
1 co-SMAD binding GO:0070410 9.16 FOXH1 TGIF1
2 patched binding GO:0005113 8.96 PTCH1 SHH
3 morphogen activity GO:0016015 8.62 NODAL SHH

Sources for Semilobar Holoprosencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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