MCID: SML028
MIFTS: 37

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 59 29 55 6 73

Characteristics:

Orphanet epidemiological data:

59
semilobar holoprosencephaly
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA220386
UMLS via Orphanet 74 C0751617
ICD10 via Orphanet 34 Q04.2
UMLS 73 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), and among its related pathways/superpathways are Pathways in cancer and NF-KappaB Family Pathway. 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 top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 holoprosencephaly 23.4 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
2 holoprosencephaly, semilobar, with craniosynostosis 12.0
3 acquired schizencephaly 10.7 SHH SIX3
4 tooth size 10.7 FGF8 SHH
5 kallmann syndrome 6 10.7 FGF8 LOC105378457
6 hartsfield syndrome 10.6 FGF8 FGFR1
7 holoprosencephaly 5 10.5 TGIF1 ZIC2
8 holoprosencephaly 4 10.4 SHH TGIF1 ZIC2
9 calcifying epithelial odontogenic tumor 10.3 GLI2 PTCH1
10 holoprosencephaly 7 10.3 NODAL PTCH1
11 holoprosencephaly 1 10.3 GAS1 SHH SIX3
12 muenke syndrome 10.2 FGF8 FGFR1 PTCH1
13 pallister-hall syndrome 10.2 GLI2 SHH
14 seckel syndrome 10.1
15 holoprosencephaly, recurrent infections, and monocytosis 10.1 GLI2 PTCH1 SIX3
16 holoprosencephaly 8 10.1 DISP1 TGIF1
17 pituitary stalk interruption syndrome 10.1 CDON SHH TGIF1
18 bardet-biedl syndrome 17 10.1 GLI2 PTCH1 SHH
19 orofacial cleft 10.1 FGF8 FGFR1 NODAL SHH
20 infratentorial cancer 10.1 GLI2 PTCH1 SHH
21 nodular medulloblastoma 10.1 GLI2 PTCH1
22 integumentary system cancer 10.1 GLI2 PTCH1 SHH
23 agnathia-otocephaly complex 10.0 FGF8 GLI2 NODAL SHH
24 duodenal obstruction 10.0 CDON NODAL
25 chromosome 18p deletion syndrome 10.0 NODAL SHH SIX3 ZIC2
26 congenital nervous system abnormality 10.0 NODAL SHH SIX3 ZIC2
27 lissencephaly 10.0
28 cerebritis 10.0
29 neuronitis 10.0
30 diabetes insipidus 10.0
31 encephalocele 10.0
32 septooptic dysplasia 10.0
33 fetal edema 10.0
34 thanatophoric dysplasia, type i 10.0
35 hydrops fetalis 10.0
36 thanatophoric dysplasia, type ii 10.0
37 down syndrome 10.0
38 hydrops fetalis, nonimmune, and/or atrial septal defect 10.0
39 craniosynostosis 10.0
40 diabetes mellitus 10.0
41 hydrocephalus 10.0
42 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 9.9 GLI2 SHH
43 physical disorder 9.8 FGF8 NODAL SHH SIX3 ZIC2
44 basal cell nevus syndrome 9.7 GAS1 GLI2 PTCH1 SHH
45 patau syndrome 9.6 DISP1 NODAL SIX3 ZIC2
46 medulloblastoma 9.5 FGFR1 GLI2 PTCH1 SHH
47 septopreoptic holoprosencephaly 4.6 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
48 midline interhemispheric variant of holoprosencephaly 4.6 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
49 alobar holoprosencephaly 4.6 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
50 microform holoprosencephaly 4.4 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:

46 (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 SHH TDGF1 TGIF1 ZIC2 CDON DISP1
4 craniofacial MP:0005382 10.39 NODAL PTCH1 SHH SIX3 TGIF1 ZIC2
5 growth/size/body region MP:0005378 10.38 NODAL PTCH1 SHH SIX3 TGIF1 ZIC2
6 digestive/alimentary MP:0005381 10.35 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
7 mortality/aging MP:0010768 10.35 FGFR1 FOXH1 GAS1 GLI2 NODAL PTCH1
8 nervous system MP:0003631 10.31 PTCH1 SHH SIX3 TDGF1 TGIF1 ZIC2
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 NODAL PTCH1 SHH SIX3 TGIF1 ZIC2
18 no phenotypic analysis MP:0003012 9.88 NODAL PTCH1 SHH FGFR1 FOXH1 GLI2
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

Genetic tests related to Semilobar Holoprosencephaly:

# Genetic test Affiliating Genes
1 Semilobar Holoprosencephaly 29

Anatomical Context for Semilobar Holoprosencephaly

MalaCards organs/tissues related to Semilobar Holoprosencephaly:

41
Pancreas

Publications for Semilobar Holoprosencephaly

Articles related to Semilobar Holoprosencephaly:

(show all 41)
# Title Authors Year
1
Semilobar holoprosencephaly with cebocephaly associated with maternal early onset preeclampsia: a case report. ( 29980223 )
2018
2
Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report. ( 28525974 )
2017
3
Semilobar holoprosencephaly in a 12-month-old baby boy born to a primigravida patient with type 1 diabetes mellitus: a case report. ( 27998308 )
2016
4
Variant course of bilateral anterior cerebral artery in semilobar holoprosencephaly. ( 26027553 )
2015
5
Semilobar Holoprosencephaly Associated with Multiple Malformations in a Foal. ( 25712180 )
2015
6
Semilobar Holoprosencephaly with Congenital Oropharyngeal Stenosis in a Term Neonate. ( 26495165 )
2015
7
Semilobar holoprosencephaly with 21q22 deletion: an autopsy report. ( 24626384 )
2014
8
Semilobar Holoprosencephaly with Neurogenic Hypernatraemia: Two new cases. ( 23984038 )
2013
9
Prenatal diagnosis of de novo monosomy 7q33-qter associated with hydrops fetalis, semilobar holoprosencephaly, and premaxillary dysgenesis. ( 24411055 )
2013
10
Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. ( 22353298 )
2012
11
Severe semilobar holoprosencephaly and lissencephaly associated with cebocephaly in a newborn. ( 23072180 )
2012
12
Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis. ( 21204232 )
2011
13
Semilobar holoprosencephaly with a unique traversed sylvian sulcus. ( 21208253 )
2011
14
A preterm infant with semilobar holoprosencephaly and hydrocephalus: a case report. ( 20180992 )
2010
15
MR angiography of a 1-year-old girl with semilobar holoprosencephaly. ( 19179426 )
2009
16
Semilobar holoprosencephaly with associated cyclopia and radial aplasia: first trimester diagnosis by means of integrating 2D-3D ultrasound. ( 19221775 )
2009
17
Sensory function in severe semilobar holoprosencephaly. ( 19153870 )
2009
18
Down syndrome (trisomy 21) with premaxillary agenesis and semilobar holoprosencephaly. ( 19876909 )
2009
19
Prenatal MRI image of a fetus with semilobar holoprosencephaly. ( 21654965 )
2008
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
Semilobar holoprosencephaly prenatal diagnosis: an unexpected complex rearrangement in a de novo apparently balanced reciprocal translocation on karyotype. ( 17269127 )
2007
23
Discordant semilobar holoprosencephaly in monozygotic twins with de novo inv dup(15) marker chromosome and de novo mutation on SHH gene. ( 17556830 )
2007
24
Coincidence of semilobar holoprosencephaly and Chiari II malformation: correlation of prenatal diagnostics and neuropathologic findings. ( 16901451 )
2006
25
Semilobar holoprosencephaly seen with diffusion tensor imaging and fiber tracking. ( 16155174 )
2005
26
Congenital nasal pyriform aperture stenosis with semilobar holoprosencephaly. ( 15627454 )
2005
27
Semilobar holoprosencephaly in a Morgan horse. ( 15954555 )
2005
28
CNS findings in three cases of septo-optic dysplasia, including one with semilobar holoprosencephaly. ( 15942946 )
2005
29
Dendritic overgrowth and alterations in laminar phenotypes of neocortical neurons in the newborn with semilobar holoprosencephaly. ( 12536031 )
2003
30
Semilobar holoprosencephaly with midline 'seam': a topologic and morphogenetic model based upon MRI analysis. ( 14615296 )
2003
31
Semilobar holoprosencephaly diagnosed by MRI. ( 12152724 )
2002
32
Semilobar holoprosencephaly in a 46,XY female fetus. ( 11746125 )
2001
33
Semilobar holoprosencephaly, coronal craniosynostosis, and multiple congenital anomalies: a severe expression of the Genoa syndrome or a newly recognized syndrome? ( 11484203 )
2001
34
On the association profound nerve deafness, semilobar holoprosencephaly, and minor midline developmental anomalies. ( 10631930 )
1999
35
Generalized chorea in an infant with semilobar holoprosencephaly. ( 8771177 )
1995
36
Sonography of facial features of alobar and semilobar holoprosencephaly. ( 2104699 )
1990
37
Semilobar holoprosencephaly with associated Arnold-Chiari variant. ( 2499604 )
1989
38
[Semilobar holoprosencephaly associated with central diabetes insipidus]. ( 3326444 )
1987
39
Semilobar holoprosencephaly: embryologic, CSF dynamics and radiological considerations. ( 3962751 )
1986
40
In utero sonographic diagnosis of semilobar holoprosencephaly. ( 3914909 )
1985
41
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 20)
# Super pathways Score Top Affiliating Genes
1 12.57 DLL1 FGF8 FGFR1 GLI2 PTCH1 SHH
2
Show member pathways
12.5 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 11.98 DLL1 GLI2 PTCH1 SHH TDGF1
6
Show member pathways
11.93 GLI2 PTCH1 SHH
7
Show member pathways
11.89 FGF8 FGFR1 FOXH1 GAS1 TDGF1
8 11.75 DLL1 FGF8 FGFR1
9
Show member pathways
11.74 CDON DISP1 GAS1 GLI2 PTCH1 SHH
10 11.62 FGF8 FGFR1 SHH
11
Show member pathways
11.4 FOXH1 NODAL TDGF1
12 11.37 FGF8 NODAL SHH
13 11.33 FGF8 FOXH1 SHH
14 11.22 GLI2 PTCH1 SHH
15 11.06 FGF8 GLI2 SHH
16 11.01 FGFR1 TDGF1
17 10.6 DLL1 FGF8
18
Show member pathways
10.54 CDON GAS1 GLI2 PTCH1 SHH
19 10.44 PTCH1 SHH
20 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 73)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell proliferation GO:0042127 9.99 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 multicellular organism development GO:0007275 9.96 DISP1 DLL1 FGF8 FGFR1 GLI2 NODAL
6 heart development GO:0007507 9.95 FGF8 GLI2 NODAL SHH TDGF1
7 kidney development GO:0001822 9.89 FGF8 GLI2 SHH
8 BMP signaling pathway GO:0030509 9.88 FGF8 NODAL TDGF1
9 positive regulation of neuron differentiation GO:0045666 9.87 CDON FGFR1 GLI2
10 negative regulation of cell differentiation GO:0045596 9.85 DLL1 NODAL SHH
11 embryonic limb morphogenesis GO:0030326 9.83 FGFR1 PTCH1 SHH
12 pattern specification process GO:0007389 9.83 GLI2 PTCH1 SHH
13 branching involved in ureteric bud morphogenesis GO:0001658 9.81 FGF8 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 anatomical structure development GO:0048856 9.77 GLI2 SHH TDGF1
17 developmental growth GO:0048589 9.77 GAS1 GLI2 SHH
18 lung development GO:0030324 9.77 FGF8 FGFR1 GLI2 NODAL SHH
19 embryonic pattern specification GO:0009880 9.76 DISP1 NODAL SHH
20 thyroid gland development GO:0030878 9.75 FGF8 SHH
21 vasculature development GO:0001944 9.75 NODAL SHH
22 anatomical structure formation involved in morphogenesis GO:0048646 9.75 GLI2 NODAL SHH
23 dopaminergic neuron differentiation GO:0071542 9.74 FGF8 SHH
24 limb morphogenesis GO:0035108 9.74 FGF8 PTCH1
25 proximal/distal pattern formation GO:0009954 9.74 DLL1 GLI2
26 renal system development GO:0072001 9.74 PTCH1 SHH
27 hindbrain development GO:0030902 9.74 GLI2 SHH
28 embryonic heart tube development GO:0035050 9.74 FGF8 NODAL
29 embryo development ending in birth or egg hatching GO:0009792 9.74 FGF8 TDGF1
30 lung morphogenesis GO:0060425 9.73 FGF8 SHH
31 cell fate specification GO:0001708 9.73 CDON SHH
32 male genitalia development GO:0030539 9.73 FGF8 SHH
33 cell fate determination GO:0001709 9.73 DLL1 PTCH1
34 osteoblast development GO:0002076 9.73 GLI2 SHH
35 pharyngeal system development GO:0060037 9.73 FGF8 PTCH1
36 regulation of smoothened signaling pathway GO:0008589 9.73 GAS1 GLI2 PTCH1
37 striated muscle cell differentiation GO:0051146 9.72 CDON SHH
38 embryonic morphogenesis GO:0048598 9.72 CDON SHH
39 somite development GO:0061053 9.72 PTCH1 SHH
40 generation of neurons GO:0048699 9.72 FGF8 FGFR1
41 smoothened signaling pathway GO:0007224 9.72 CDON DISP1 GLI2 PTCH1 SHH
42 aorta morphogenesis GO:0035909 9.71 FGF8 FOXH1
43 digestive tract morphogenesis GO:0048546 9.71 NODAL SHH
44 negative regulation of androgen receptor signaling pathway GO:0060766 9.71 FOXH1 NODAL
45 spinal cord motor neuron differentiation GO:0021522 9.71 GLI2 PTCH1 SHH
46 dorsal/ventral pattern formation GO:0009953 9.71 DISP1 GLI2 PTCH1 SHH
47 cell proliferation in forebrain GO:0021846 9.7 FGF8 SIX3
48 organ induction GO:0001759 9.7 FGF8 FGFR1
49 positive regulation of T cell differentiation in thymus GO:0033089 9.69 GLI2 SHH
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 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
Content
Loading form....