MCID: SML028
MIFTS: 38

Semilobar Holoprosencephaly

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

Aliases & Classifications for Semilobar Holoprosencephaly

MalaCards integrated aliases for Semilobar Holoprosencephaly:

Name: Semilobar Holoprosencephaly 60 56 6 74

Characteristics:

Orphanet epidemiological data:

60
semilobar holoprosencephaly
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q04.2
UMLS via Orphanet 75 C0751617
Orphanet 60 ORPHA220386
UMLS 74 C0751617

Summaries for Semilobar Holoprosencephaly

MalaCards based summary : Semilobar Holoprosencephaly is related to holoprosencephaly and holoprosencephaly, semilobar, with craniosynostosis. An important gene associated with Semilobar Holoprosencephaly is SHH (Sonic Hedgehog Signaling Molecule), and among its related pathways/superpathways are Pathways in cancer and NF-KappaB Family Pathway. Affiliated tissues include pancreas, pituitary and thyroid, 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 top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 holoprosencephaly 27.9 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
2 holoprosencephaly, semilobar, with craniosynostosis 12.2
3 acquired schizencephaly 10.4 SHH SIX3
4 tooth size 10.3 FGF8 SHH
5 kallmann syndrome 6 10.3 FGF8 LOC105378457
6 hartsfield syndrome 10.3 FGF8 FGFR1
7 seckel syndrome 10.3
8 holoprosencephaly 5 10.2 TGIF1 ZIC2
9 holoprosencephaly 4 10.2 SHH TGIF1 ZIC2
10 holoprosencephaly 1 10.2 GAS1 SHH SIX3
11 septooptic dysplasia 10.2
12 thanatophoric dysplasia, type i 10.2
13 thanatophoric dysplasia, type ii 10.2
14 down syndrome 10.2
15 lymphatic malformation 7 10.2
16 craniosynostosis 10.2
17 diabetes mellitus 10.2
18 hydrocephalus 10.2
19 lissencephaly 10.2
20 pre-eclampsia 10.2
21 choreatic disease 10.2
22 diabetes insipidus 10.2
23 46, xy disorders of sexual development 10.2
24 chromosomal triplication 10.2
25 congenital hydrocephalus 10.2
26 encephalocele 10.2
27 fetal edema 10.2
28 hydrops fetalis 10.2
29 triploidy 10.2
30 xq12-q13.3 duplication syndrome 10.2
31 holoprosencephaly 8 10.1 DISP1 TGIF1
32 patau syndrome 10.1 NODAL SIX3 ZIC2
33 pituitary stalk interruption syndrome 10.1 CDON SHH TGIF1
34 duodenal obstruction 10.1 CDON NODAL
35 holoprosencephaly 7 10.1 NODAL PTCH1
36 muenke syndrome 10.1 FGF8 FGFR1 PTCH1
37 chromosome 18p deletion syndrome 10.0 NODAL SHH SIX3 ZIC2
38 congenital nervous system abnormality 10.0 NODAL SHH SIX3 ZIC2
39 focal epithelial hyperplasia 9.9 FGF8 GLI2 SHH
40 physical disorder 9.9 FGF8 NODAL SHH SIX3 ZIC2
41 calcifying epithelial odontogenic tumor 9.8 GLI2 PTCH1
42 brachydactyly, type a1 9.8 CDON GAS1 PTCH1 SHH
43 pallister-hall syndrome 9.8 GLI2 SHH
44 holoprosencephaly, recurrent infections, and monocytosis 9.7 GLI2 PTCH1 SIX3
45 nodular medulloblastoma 9.7 GLI2 PTCH1
46 greig cephalopolysyndactyly syndrome 9.7 GLI2 PTCH1 SHH
47 bardet-biedl syndrome 17 9.7 GLI2 PTCH1 SHH
48 agnathia-otocephaly complex 9.7 FGF8 GLI2 NODAL SHH
49 infratentorial cancer 9.7 GLI2 PTCH1 SHH
50 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 9.7 GLI2 SHH

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:

47 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.43 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
2 cardiovascular system MP:0005385 10.4 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
3 cellular MP:0005384 10.4 CDON DISP1 DLL1 FGF8 FGFR1 GAS1
4 craniofacial MP:0005382 10.39 CDON DISP1 FGF8 FGFR1 FOXH1 GAS1
5 growth/size/body region MP:0005378 10.38 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
6 digestive/alimentary MP:0005381 10.35 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
7 mortality/aging MP:0010768 10.35 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
8 nervous system MP:0003631 10.31 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
9 behavior/neurological MP:0005386 10.3 CDON DLL1 FGF8 FGFR1 GAS1 GLI2
10 homeostasis/metabolism MP:0005376 10.25 DISP1 DLL1 FGF8 FGFR1 FOXH1 GAS1
11 limbs/digits/tail MP:0005371 10.24 CDON DISP1 DLL1 FGF8 FGFR1 GAS1
12 hearing/vestibular/ear MP:0005377 10.18 DLL1 FGF8 FGFR1 FOXH1 GAS1 GLI2
13 endocrine/exocrine gland MP:0005379 10.15 DISP1 DLL1 FGF8 FGFR1 FOXH1 GLI2
14 normal MP:0002873 10.15 DISP1 DLL1 FGF8 FGFR1 FOXH1 GLI2
15 muscle MP:0005369 10.11 DISP1 DLL1 FGF8 FGFR1 FOXH1 GLI2
16 respiratory system MP:0005388 10 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
17 skeleton MP:0005390 10 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
18 no phenotypic analysis MP:0003012 9.88 FGFR1 FOXH1 GLI2 NODAL PTCH1 SHH
19 renal/urinary system MP:0005367 9.8 DLL1 FGF8 FGFR1 FOXH1 PTCH1 SHH
20 vision/eye MP:0005391 9.47 CDON DISP1 FGF8 FGFR1 FOXH1 GAS1
21 taste/olfaction MP:0005394 9.35 NODAL PTCH1 SHH SIX3 TGIF1

Drugs & Therapeutics for Semilobar Holoprosencephaly

Search Clinical Trials , NIH Clinical Center for Semilobar Holoprosencephaly

Genetic Tests for Semilobar Holoprosencephaly

Anatomical Context for Semilobar Holoprosencephaly

MalaCards organs/tissues related to Semilobar Holoprosencephaly:

42
Pancreas, Pituitary, Thyroid

Publications for Semilobar Holoprosencephaly

Articles related to Semilobar Holoprosencephaly:

(show all 42)
# Title Authors Year
1
Semilobar holoprosencephaly with cebocephaly associated with maternal early onset preeclampsia: a case report. ( 29980223 )
2018
2
Digynic triploidy in a fetus presenting with semilobar holoprosencephaly. ( 30545546 )
2018
3
Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report. ( 28525974 )
2017
4
Semilobar Holoprosencephaly Associated with Multiple Malformations in a Foal. ( 25712180 )
2016
5
Semilobar holoprosencephaly in a 12-month-old baby boy born to a primigravida patient with type 1 diabetes mellitus: a case report. ( 27998308 )
2016
6
Variant course of bilateral anterior cerebral artery in semilobar holoprosencephaly. ( 26027553 )
2015
7
Semilobar Holoprosencephaly with Congenital Oropharyngeal Stenosis in a Term Neonate. ( 26495165 )
2015
8
Semilobar holoprosencephaly with 21q22 deletion: an autopsy report. ( 24626384 )
2014
9
Semilobar Holoprosencephaly with Neurogenic Hypernatraemia: Two new cases. ( 23984038 )
2013
10
Prenatal diagnosis of de novo monosomy 7q33-qter associated with hydrops fetalis, semilobar holoprosencephaly, and premaxillary dysgenesis. ( 24411055 )
2013
11
Severe semilobar holoprosencephaly and lissencephaly associated with cebocephaly in a newborn. ( 23072180 )
2012
12
Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. ( 22353298 )
2012
13
Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis. ( 21204232 )
2011
14
Semilobar holoprosencephaly with a unique traversed sylvian sulcus. ( 21208253 )
2011
15
A preterm infant with semilobar holoprosencephaly and hydrocephalus: a case report. ( 20180992 )
2010
16
Down syndrome (trisomy 21) with premaxillary agenesis and semilobar holoprosencephaly. ( 19876909 )
2009
17
Sensory function in severe semilobar holoprosencephaly. ( 19153870 )
2009
18
MR angiography of a 1-year-old girl with semilobar holoprosencephaly. ( 19179426 )
2009
19
Semilobar holoprosencephaly with associated cyclopia and radial aplasia: first trimester diagnosis by means of integrating 2D-3D ultrasound. ( 19221775 )
2009
20
Semilobar holoprosencephaly in Seckel syndrome. ( 18537018 )
2008
21
Early prenatal diagnosis of semilobar holoprosencephaly combined with a dorsal cyst and no facial defect. ( 19126512 )
2008
22
Prenatal MRI image of a fetus with semilobar holoprosencephaly. ( 21654965 )
2008
23
Semilobar holoprosencephaly prenatal diagnosis: an unexpected complex rearrangement in a de novo apparently balanced reciprocal translocation on karyotype. ( 17269127 )
2007
24
Discordant semilobar holoprosencephaly in monozygotic twins with de novo inv dup(15) marker chromosome and de novo mutation on SHH gene. ( 17556830 )
2007
25
Coincidence of semilobar holoprosencephaly and Chiari II malformation: correlation of prenatal diagnostics and neuropathologic findings. ( 16901451 )
2006
26
Congenital nasal pyriform aperture stenosis with semilobar holoprosencephaly. ( 15627454 )
2005
27
CNS findings in three cases of septo-optic dysplasia, including one with semilobar holoprosencephaly. ( 15942946 )
2005
28
Semilobar holoprosencephaly in a Morgan horse. ( 15954555 )
2005
29
Semilobar holoprosencephaly seen with diffusion tensor imaging and fiber tracking. ( 16155174 )
2005
30
Dendritic overgrowth and alterations in laminar phenotypes of neocortical neurons in the newborn with semilobar holoprosencephaly. ( 12536031 )
2003
31
Semilobar holoprosencephaly with midline 'seam': a topologic and morphogenetic model based upon MRI analysis. ( 14615296 )
2003
32
Semilobar holoprosencephaly diagnosed by MRI. ( 12152724 )
2002
33
Semilobar holoprosencephaly, coronal craniosynostosis, and multiple congenital anomalies: a severe expression of the Genoa syndrome or a newly recognized syndrome? ( 11484203 )
2001
34
Semilobar holoprosencephaly in a 46,XY female fetus. ( 11746125 )
2001
35
On the association profound nerve deafness, semilobar holoprosencephaly, and minor midline developmental anomalies. ( 10631930 )
1999
36
Generalized chorea in an infant with semilobar holoprosencephaly. ( 8771177 )
1995
37
Sonography of facial features of alobar and semilobar holoprosencephaly. ( 2104699 )
1990
38
Semilobar holoprosencephaly with associated Arnold-Chiari variant. ( 2499604 )
1989
39
[Semilobar holoprosencephaly associated with central diabetes insipidus]. ( 3326444 )
1987
40
Semilobar holoprosencephaly: embryologic, CSF dynamics and radiological considerations. ( 3962751 )
1986
41
In utero sonographic diagnosis of semilobar holoprosencephaly. ( 3914909 )
1985
42
Prenatal diagnosis of semilobar holoprosencephaly. ( 6607617 )
1984

Variations for Semilobar Holoprosencephaly

ClinVar genetic disease variations for Semilobar Holoprosencephaly:

6
# 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 FGFR1 NM_023110.2(FGFR1): c.1977+1G> A single nucleotide variant Likely pathogenic rs876661334 GRCh37 Chromosome 8, 38272296: 38272296
3 FGF8 NM_033163.3(FGF8): c.356C> T (p.Thr119Met) single nucleotide variant Likely pathogenic rs876661329 GRCh37 Chromosome 10, 103531308: 103531308
4 FGF8 NM_033163.3(FGF8): c.356C> T (p.Thr119Met) single nucleotide variant Likely pathogenic rs876661329 GRCh38 Chromosome 10, 101771551: 101771551
5 FGF8 NM_033163.3(FGF8): c.317C> A (p.Ala106Glu) single nucleotide variant Likely pathogenic rs876661328 GRCh38 Chromosome 10, 101774752: 101774752
6 FGF8 NM_033163.3(FGF8): c.317C> A (p.Ala106Glu) single nucleotide variant Likely pathogenic rs876661328 GRCh37 Chromosome 10, 103534509: 103534509

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 22)
# Super pathways Score Top Affiliating Genes
1 12.57 DLL1 FGF8 FGFR1 GLI2 PTCH1 SHH
2
Show member pathways
12.52 FGF8 FGFR1 GAS1 TDGF1
3
Show member pathways
12.37 CDON GAS1 GLI2 PTCH1 SHH
4
Show member pathways
12.28 DLL1 FGF8 FGFR1 FOXH1 GLI2 NODAL
5
Show member pathways
12.26 GLI2 PTCH1 SHH
6
Show member pathways
12.09 FGF8 FGFR1 GAS1 TDGF1
7 11.98 DLL1 GLI2 PTCH1 SHH TDGF1
8
Show member pathways
11.89 FGF8 FGFR1 FOXH1 GAS1 TDGF1
9 11.76 DLL1 FGF8 FGFR1
10
Show member pathways
11.74 CDON DISP1 GAS1 GLI2 PTCH1 SHH
11 11.62 FGF8 FGFR1 SHH
12 11.56 FGF8 FGFR1 GAS1 TDGF1
13
Show member pathways
11.4 FOXH1 NODAL TDGF1
14 11.37 FGF8 NODAL SHH
15 11.33 FGF8 FOXH1 SHH
16 11.22 GLI2 PTCH1 SHH
17 11.06 FGF8 GLI2 SHH
18 11.02 FGFR1 TDGF1
19 10.6 DLL1 FGF8
20
Show member pathways
10.54 CDON GAS1 GLI2 PTCH1 SHH
21 10.44 PTCH1 SHH
22 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 75)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.98 DLL1 FGF8 FGFR1 GLI2 NODAL SHH
2 brain development GO:0007420 9.97 FGFR1 NODAL PTCH1 SIX3 ZIC2
3 heart development GO:0007507 9.97 FGF8 GLI2 NODAL SHH TDGF1
4 in utero embryonic development GO:0001701 9.96 FGFR1 GLI2 NODAL PTCH1
5 regulation of cell proliferation GO:0042127 9.94 FGFR1 PTCH1 SHH SIX3
6 kidney development GO:0001822 9.9 FGF8 GLI2 SHH
7 positive regulation of neuron differentiation GO:0045666 9.88 CDON FGFR1 GLI2
8 BMP signaling pathway GO:0030509 9.87 FGF8 NODAL TDGF1
9 pattern specification process GO:0007389 9.85 GLI2 PTCH1 SHH
10 negative regulation of cell differentiation GO:0045596 9.84 DLL1 NODAL SHH
11 embryonic limb morphogenesis GO:0030326 9.83 FGFR1 PTCH1 SHH
12 branching involved in ureteric bud morphogenesis GO:0001658 9.8 FGF8 PTCH1 SHH
13 smoothened signaling pathway GO:0007224 9.8 CDON GLI2 PTCH1 SHH
14 mammary gland development GO:0030879 9.78 GLI2 PTCH1 TDGF1
15 cell fate commitment GO:0045165 9.78 FGF8 GAS1 NODAL SHH
16 developmental growth GO:0048589 9.77 GAS1 GLI2 SHH
17 regulation of smoothened signaling pathway GO:0008589 9.77 GAS1 GLI2 PTCH1
18 anatomical structure formation involved in morphogenesis GO:0048646 9.76 GLI2 NODAL SHH
19 branching morphogenesis of an epithelial tube GO:0048754 9.75 GLI2 SHH
20 positive regulation of mesenchymal cell proliferation GO:0002053 9.75 FGFR1 SHH
21 vasculature development GO:0001944 9.75 NODAL SHH
22 thyroid gland development GO:0030878 9.75 FGF8 SHH
23 proximal/distal pattern formation GO:0009954 9.74 DLL1 GLI2
24 limb morphogenesis GO:0035108 9.74 FGF8 PTCH1
25 renal system development GO:0072001 9.74 PTCH1 SHH
26 dopaminergic neuron differentiation GO:0071542 9.74 FGF8 SHH
27 embryo development ending in birth or egg hatching GO:0009792 9.74 FGF8 TDGF1
28 hindbrain development GO:0030902 9.74 GLI2 SHH
29 lung morphogenesis GO:0060425 9.74 FGF8 SHH
30 embryonic heart tube development GO:0035050 9.73 FGF8 NODAL
31 cell fate specification GO:0001708 9.73 CDON SHH
32 male genitalia development GO:0030539 9.73 FGF8 SHH
33 osteoblast development GO:0002076 9.73 GLI2 SHH
34 cell fate determination GO:0001709 9.73 DLL1 PTCH1
35 pharyngeal system development GO:0060037 9.73 FGF8 PTCH1
36 embryonic pattern specification GO:0009880 9.73 DISP1 NODAL SHH
37 embryonic morphogenesis GO:0048598 9.72 CDON SHH
38 somite development GO:0061053 9.72 PTCH1 SHH
39 aorta morphogenesis GO:0035909 9.72 FGF8 FOXH1
40 digestive tract morphogenesis GO:0048546 9.72 NODAL SHH
41 spinal cord motor neuron differentiation GO:0021522 9.72 GLI2 PTCH1 SHH
42 lung development GO:0030324 9.72 FGF8 FGFR1 GLI2 NODAL SHH
43 negative regulation of androgen receptor signaling pathway GO:0060766 9.71 FOXH1 NODAL
44 prostate gland development GO:0030850 9.71 PTCH1 SHH
45 striated muscle cell differentiation GO:0051146 9.71 CDON SHH
46 generation of neurons GO:0048699 9.71 FGF8 FGFR1
47 dorsal/ventral pattern formation GO:0009953 9.71 DISP1 GLI2 PTCH1 SHH
48 cell proliferation in forebrain GO:0021846 9.7 FGF8 SIX3
49 organ induction GO:0001759 9.7 FGF8 FGFR1
50 nodal signaling pathway GO:0038092 9.69 NODAL TDGF1

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

# 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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