MCID: SML028
MIFTS: 38

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 55 28 51 69

Characteristics:

Orphanet epidemiological data:

55
semilobar holoprosencephaly
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 55 ORPHA220386
UMLS via Orphanet 70 C0751617
ICD10 via Orphanet 33 Q04.2
UMLS 69 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 54)
# Related Disease Score Top Affiliating Genes
1 holoprosencephaly 26.8 CDON DISP1 FGF8 FGFR1 FOXH1 GAS1
2 holoprosencephaly, semilobar, with craniosynostosis 12.0
3 acquired schizencephaly 10.5 SHH SIX3
4 holoprosencephaly 5 10.3 TGIF1 ZIC2
5 tooth size 10.3 FGF8 SHH
6 holoprosencephaly 4 10.3 SHH TGIF1 ZIC2
7 holoprosencephaly 7 10.3 NODAL PTCH1
8 calcifying epithelial odontogenic tumor 10.3 GLI2 PTCH1
9 patau syndrome 10.2 NODAL SIX3 ZIC2
10 pallister-hall syndrome 10.2 GAS1 GLI2 SHH
11 holoprosencephaly, recurrent infections, and monocytosis 10.2 GLI2 PTCH1 SIX3
12 holoprosencephaly 8 10.2 DISP1 TGIF1
13 bardet-biedl syndrome 17 10.2 GLI2 PTCH1 SHH
14 nodular medulloblastoma 10.1 GLI2 PTCH1
15 infratentorial cancer 10.1 GLI2 PTCH1 SHH
16 brachydactyly, type a1 10.1 PTCH1 SHH
17 integumentary system cancer 10.1 GLI2 PTCH1 SHH
18 pituitary stalk interruption syndrome 10.1 CDON SHH TGIF1
19 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.1 GLI2 SHH
20 seckel syndrome 10.1
21 duodenal obstruction 10.1 CDON NODAL
22 chromosome 18p deletion syndrome 10.1 NODAL SHH SIX3 ZIC2
23 congenital nervous system abnormality 10.1 NODAL SHH SIX3 ZIC2
24 holoprosencephaly 1 10.0 SHH SIX3
25 choreatic disease 10.0
26 septooptic dysplasia 10.0
27 cerebritis 10.0
28 thanatophoric dysplasia, type i 10.0
29 neuronitis 10.0
30 thanatophoric dysplasia, type ii 10.0
31 encephalocele 10.0
32 down syndrome 10.0
33 hydrops fetalis 10.0
34 xp22.13p22.2 duplication syndrome 10.0
35 branchiootic syndrome 1 10.0
36 xq12-q13.3 duplication syndrome 10.0
37 chorea, childhood-onset, with psychomotor retardation 10.0
38 hydrops fetalis, nonimmune, and/or atrial septal defect 10.0
39 arthrogryposis multiplex congenita, neurogenic, with myelin defect 10.0
40 craniosynostosis 10.0
41 diabetes mellitus 10.0
42 hydrocephalus 10.0
43 lissencephaly 10.0
44 agnathia-otocephaly complex 9.9 FGF8 GLI2 NODAL SHH
45 basal cell nevus syndrome 9.9 GAS1 GLI2 PTCH1 SHH
46 hartsfield syndrome 9.8 FGF8 FGFR1
47 physical disorder 9.8 FGF8 NODAL SHH SIX3 ZIC2
48 muenke syndrome 9.6 FGF8 FGFR1 PTCH1
49 orofacial cleft 9.5 FGF8 FGFR1 NODAL SHH
50 septopreoptic holoprosencephaly 7.0 CDON DISP1 DLL1 FGF8 FOXH1 GAS1

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:

43 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.43 FGFR1 FOXH1 GAS1 GLI2 NODAL PTCH1
2 cardiovascular system MP:0005385 10.4 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
3 cellular MP:0005384 10.4 GLI2 NODAL PTCH1 SHH TDGF1 TGIF1
4 craniofacial MP:0005382 10.39 CDON DISP1 FGF8 FGFR1 FOXH1 GAS1
5 growth/size/body region MP:0005378 10.38 DISP1 DLL1 FGF8 FGFR1 FOXH1 GAS1
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 FOXH1 GAS1 GLI2 NODAL PTCH1 SHH
9 behavior/neurological MP:0005386 10.3 TGIF1 ZIC2 CDON DLL1 FGF8 FGFR1
10 homeostasis/metabolism MP:0005376 10.25 DISP1 DLL1 FGF8 FGFR1 FOXH1 GAS1
11 limbs/digits/tail MP:0005371 10.24 GLI2 PTCH1 SHH TGIF1 ZIC2 CDON
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 FOXH1 GLI2 NODAL PTCH1 SHH FGFR1
19 renal/urinary system MP:0005367 9.8 DLL1 FGF8 FGFR1 FOXH1 PTCH1 SHH
20 vision/eye MP:0005391 9.47 GAS1 GLI2 NODAL PTCH1 SHH SIX3
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 28

Anatomical Context for Semilobar Holoprosencephaly

MalaCards organs/tissues related to Semilobar Holoprosencephaly:

38
Pancreas

Publications for Semilobar Holoprosencephaly

Articles related to Semilobar Holoprosencephaly:

(show all 39)
# 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
Semilobar Holoprosencephaly with Congenital Oropharyngeal Stenosis in a Term Neonate. ( 26495165 )
2015
5
Variant course of bilateral anterior cerebral artery in semilobar holoprosencephaly. ( 26027553 )
2015
6
Semilobar holoprosencephaly with 21q22 deletion: an autopsy report. ( 24626384 )
2014
7
Prenatal diagnosis of de novo monosomy 7q33-qter associated with hydrops fetalis, semilobar holoprosencephaly, and premaxillary dysgenesis. ( 24411055 )
2013
8
Semilobar Holoprosencephaly with Neurogenic Hypernatraemia: Two new cases. ( 23984038 )
2013
9
Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. ( 22353298 )
2012
10
Severe semilobar holoprosencephaly and lissencephaly associated with cebocephaly in a newborn. ( 23072180 )
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
Semilobar holoprosencephaly with associated cyclopia and radial aplasia: first trimester diagnosis by means of integrating 2D-3D ultrasound. ( 19221775 )
2009
15
Down syndrome (trisomy 21) with premaxillary agenesis and semilobar holoprosencephaly. ( 19876909 )
2009
16
Sensory function in severe semilobar holoprosencephaly. ( 19153870 )
2009
17
MR angiography of a 1-year-old girl with semilobar holoprosencephaly. ( 19179426 )
2009
18
Prenatal MRI image of a fetus with semilobar holoprosencephaly. ( 21654965 )
2008
19
Semilobar holoprosencephaly in Seckel syndrome. ( 18537018 )
2008
20
Early prenatal diagnosis of semilobar holoprosencephaly combined with a dorsal cyst and no facial defect. ( 19126512 )
2008
21
Discordant semilobar holoprosencephaly in monozygotic twins with de novo inv dup(15) marker chromosome and de novo mutation on SHH gene. ( 17556830 )
2007
22
Semilobar holoprosencephaly prenatal diagnosis: an unexpected complex rearrangement in a de novo apparently balanced reciprocal translocation on karyotype. ( 17269127 )
2007
23
Coincidence of semilobar holoprosencephaly and Chiari II malformation: correlation of prenatal diagnostics and neuropathologic findings. ( 16901451 )
2006
24
Congenital nasal pyriform aperture stenosis with semilobar holoprosencephaly. ( 15627454 )
2005
25
Semilobar holoprosencephaly in a Morgan horse. ( 15954555 )
2005
26
Semilobar holoprosencephaly seen with diffusion tensor imaging and fiber tracking. ( 16155174 )
2005
27
CNS findings in three cases of septo-optic dysplasia, including one with semilobar holoprosencephaly. ( 15942946 )
2005
28
Semilobar holoprosencephaly with midline 'seam': a topologic and morphogenetic model based upon MRI analysis. ( 14615296 )
2003
29
Dendritic overgrowth and alterations in laminar phenotypes of neocortical neurons in the newborn with semilobar holoprosencephaly. ( 12536031 )
2003
30
Semilobar holoprosencephaly diagnosed by MRI. ( 12152724 )
2002
31
Semilobar holoprosencephaly in a 46,XY female fetus. ( 11746125 )
2001
32
Semilobar holoprosencephaly, coronal craniosynostosis, and multiple congenital anomalies: a severe expression of the Genoa syndrome or a newly recognized syndrome? ( 11484203 )
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
# 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 18)
# Super pathways Score Top Affiliating Genes
1 12.57 DLL1 FGF8 FGFR1 GLI2 PTCH1 SHH
2
Show member pathways
12.49 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 11.74 DLL1 FGF8 FGFR1
7
Show member pathways
11.74 CDON DISP1 GAS1 GLI2 PTCH1 SHH
8 11.61 FGF8 FGFR1 SHH
9
Show member pathways
11.39 FOXH1 NODAL TDGF1
10 11.35 FGF8 NODAL SHH
11 11.32 FGF8 FOXH1 SHH
12 11.22 GLI2 PTCH1 SHH
13 11.06 FGF8 GLI2 SHH
14 10.99 FGFR1 TDGF1
15 10.59 DLL1 FGF8
16
Show member pathways
10.54 CDON GAS1 GLI2 PTCH1 SHH
17 10.43 PTCH1 SHH
18 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 69)
# 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 9.88 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 cell fate commitment GO:0045165 9.8 FGF8 GAS1 NODAL SHH
12 mammary gland development GO:0030879 9.78 GLI2 PTCH1 TDGF1
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 thyroid gland development GO:0030878 9.74 FGF8 SHH
18 vasculature development GO:0001944 9.74 NODAL SHH
19 dopaminergic neuron differentiation GO:0071542 9.74 FGF8 SHH
20 proximal/distal pattern formation GO:0009954 9.74 DLL1 GLI2
21 limb morphogenesis GO:0035108 9.74 FGF8 PTCH1
22 spinal cord motor neuron differentiation GO:0021522 9.74 GLI2 PTCH1 SHH
23 renal system development GO:0072001 9.73 PTCH1 SHH
24 hindbrain development GO:0030902 9.73 GLI2 SHH
25 embryonic heart tube development GO:0035050 9.73 FGF8 NODAL
26 lung morphogenesis GO:0060425 9.73 FGF8 SHH
27 male genitalia development GO:0030539 9.73 FGF8 SHH
28 pharyngeal system development GO:0060037 9.73 FGF8 PTCH1
29 osteoblast development GO:0002076 9.72 GLI2 SHH
30 cell fate specification GO:0001708 9.72 CDON SHH
31 cell fate determination GO:0001709 9.72 DLL1 PTCH1
32 somite development GO:0061053 9.72 PTCH1 SHH
33 anatomical structure development GO:0048856 9.72 GLI2 SHH
34 anatomical structure formation involved in morphogenesis GO:0048646 9.72 GLI2 NODAL SHH
35 anterior/posterior pattern specification GO:0009952 9.72 CDON FOXH1 GLI2 NODAL SHH
36 embryonic morphogenesis GO:0048598 9.71 CDON SHH
37 digestive tract morphogenesis GO:0048546 9.71 NODAL SHH
38 aorta morphogenesis GO:0035909 9.71 FGF8 FOXH1
39 striated muscle cell differentiation GO:0051146 9.71 CDON SHH
40 dorsal/ventral pattern formation GO:0009953 9.71 DISP1 GLI2 PTCH1 SHH
41 generation of neurons GO:0048699 9.7 FGF8 FGFR1
42 negative regulation of androgen receptor signaling pathway GO:0060766 9.7 FOXH1 NODAL
43 cell proliferation in forebrain GO:0021846 9.7 FGF8 SIX3
44 prostate gland development GO:0030850 9.7 GLI2 PTCH1 SHH
45 organ induction GO:0001759 9.69 FGF8 FGFR1
46 positive regulation of T cell differentiation in thymus GO:0033089 9.69 GLI2 SHH
47 dorsal/ventral neural tube patterning GO:0021904 9.69 GLI2 PTCH1 SHH
48 positive regulation of skeletal muscle tissue development GO:0048643 9.68 CDON SHH
49 lung-associated mesenchyme development GO:0060484 9.68 FGFR1 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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