MCID: LBR025
MIFTS: 35

Lobar Holoprosencephaly

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

Aliases & Classifications for Lobar Holoprosencephaly

MalaCards integrated aliases for Lobar Holoprosencephaly:

Name: Lobar Holoprosencephaly 59 55 6

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Orphanet 59 ORPHA93924
ICD10 via Orphanet 34 Q04.2
UMLS via Orphanet 74 C0431362

Summaries for Lobar Holoprosencephaly

MalaCards based summary : Lobar Holoprosencephaly is related to holoprosencephaly and acquired schizencephaly. An important gene associated with Lobar Holoprosencephaly is PTCH1 (Patched 1), and among its related pathways/superpathways are Pathways in cancer and Signaling by Hedgehog. Affiliated tissues include kidney, and related phenotypes are embryo and cellular

Related Diseases for Lobar Holoprosencephaly

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

(show all 45)
# Related Disease Score Top Affiliating Genes
1 holoprosencephaly 24.0 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
2 acquired schizencephaly 10.6 SHH SIX3
3 holoprosencephaly 7 10.5 NODAL PTCH1
4 holoprosencephaly 8 10.4 DISP1 TGIF1
5 calcifying epithelial odontogenic tumor 10.4 GLI2 PTCH1
6 tooth size 10.3 FGF8 SHH
7 holoprosencephaly, recurrent infections, and monocytosis 10.2 GLI2 PTCH1 SIX3
8 holoprosencephaly 5 10.2 TGIF1 ZIC2
9 bardet-biedl syndrome 17 10.2 GLI2 PTCH1 SHH
10 holoprosencephaly 4 10.2 SHH TGIF1 ZIC2
11 infratentorial cancer 10.2 GLI2 PTCH1 SHH
12 hartsfield syndrome 10.1 FGF8 FGFR1
13 integumentary system cancer 10.1 GLI2 PTCH1 SHH
14 cleft lip 10.1
15 holoprosencephaly 1 10.0 GAS1 SHH SIX3
16 muenke syndrome 10.0 FGF8 FGFR1 PTCH1
17 nodular medulloblastoma 10.0 GLI2 PTCH1
18 cerebritis 10.0
19 cleft lip/palate 10.0
20 patau syndrome 10.0 DISP1 NODAL SIX3 ZIC2
21 chromosome 18p deletion syndrome 9.9 NODAL SHH SIX3 ZIC2
22 classic phenylketonuria 9.9
23 fanconi anemia, complementation group a 9.9
24 phenylketonuria 9.9
25 schizencephaly 9.9
26 corpus callosum, partial agenesis of, x-linked 9.9
27 sacral defect with anterior meningocele 9.9
28 hydrocephalus 9.9
29 spastic diplegia 9.9
30 diabetes insipidus 9.9
31 mosaic trisomy 9 9.9
32 spasticity 9.9
33 pallister-hall syndrome 9.8 GLI2 SHH
34 orofacial cleft 9.8 FGF8 FGFR1 NODAL SHH
35 congenital nervous system abnormality 9.7 NODAL SHH SIX3 STIL ZIC2
36 basal cell nevus syndrome 9.6 GAS1 GLI2 PTCH1 SHH
37 duodenal obstruction 9.6 CDON NODAL
38 agnathia-otocephaly complex 9.6 FGF8 GLI2 NODAL SHH
39 pituitary stalk interruption syndrome 9.6 CDON SHH TGIF1
40 physical disorder 9.3 FGF8 NODAL SHH SIX3 ZIC2
41 septopreoptic holoprosencephaly 4.6 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
42 midline interhemispheric variant of holoprosencephaly 4.6 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
43 alobar holoprosencephaly 4.6 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
44 microform holoprosencephaly 4.4 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
45 semilobar holoprosencephaly 4.4 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1

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



Diseases related to Lobar Holoprosencephaly

Symptoms & Phenotypes for Lobar Holoprosencephaly

MGI Mouse Phenotypes related to Lobar Holoprosencephaly:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.44 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
2 cellular MP:0005384 10.41 STIL TDGF1 TGIF1 ZIC2 GAS1 GLI2
3 cardiovascular system MP:0005385 10.39 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
4 growth/size/body region MP:0005378 10.39 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
5 craniofacial MP:0005382 10.37 FGF8 FGFR1 FOXH1 GAS1 GLI2 NODAL
6 mortality/aging MP:0010768 10.34 ZIC2 CDON DISP1 DLL1 FGF8 FGFR1
7 digestive/alimentary MP:0005381 10.33 SIX3 ZIC2 CDON DISP1 DLL1 FGF8
8 behavior/neurological MP:0005386 10.28 DLL1 FGF8 FGFR1 GAS1 GLI2 PTCH1
9 nervous system MP:0003631 10.27 TDGF1 TGIF1 ZIC2 FGFR1 FOXH1 GAS1
10 homeostasis/metabolism MP:0005376 10.22 DISP1 DLL1 FGF8 FGFR1 FOXH1 GAS1
11 limbs/digits/tail MP:0005371 10.2 CDON DISP1 DLL1 FGF8 FGFR1 GAS1
12 hearing/vestibular/ear MP:0005377 10.15 DLL1 FGF8 FGFR1 FOXH1 GAS1 GLI2
13 endocrine/exocrine gland MP:0005379 10.13 DISP1 DLL1 FGF8 FGFR1 FOXH1 GLI2
14 normal MP:0002873 10.1 PTCH1 SHH TDGF1 TGIF1 ZIC2 DISP1
15 muscle MP:0005369 10.06 DISP1 DLL1 FGF8 FGFR1 FOXH1 GLI2
16 respiratory system MP:0005388 10 GLI2 NODAL PTCH1 SHH SIX3 TGIF1
17 skeleton MP:0005390 10 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
18 vision/eye MP:0005391 9.47 CDON DISP1 FGF8 FGFR1 FOXH1 GAS1
19 taste/olfaction MP:0005394 9.35 NODAL PTCH1 SHH SIX3 TGIF1

Drugs & Therapeutics for Lobar Holoprosencephaly

Search Clinical Trials , NIH Clinical Center for Lobar Holoprosencephaly

Genetic Tests for Lobar Holoprosencephaly

Anatomical Context for Lobar Holoprosencephaly

MalaCards organs/tissues related to Lobar Holoprosencephaly:

41
Kidney

Publications for Lobar Holoprosencephaly

Articles related to Lobar Holoprosencephaly:

(show all 31)
# Title Authors Year
1
Semi Lobar Holoprosencephaly with Vertebral Segmentation Defects. ( 28883880 )
2017
2
Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia. ( 29278735 )
2017
3
Correlation of bispectral index (BIS) monitoring and end-tidal sevoflurane concentration in a patient with lobar holoprosencephaly. ( 26323737 )
2015
4
Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys. ( 25257335 )
2014
5
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. ( 25218063 )
2014
6
Rare Disease: Lobar Holoprosencephaly With a Median Cleft Lip-Case Report. ( 25291088 )
2014
7
Caudal Regression Syndrome with Partial Agenesis of the Corpus callosum and Partial Lobar Holoprosencephaly: Case report. ( 21509087 )
2010
8
Lobar holoprosencephaly with a median cleft: case report. ( 19929095 )
2009
9
Lobar holoprosencephaly in 18pter deletion resulting from the karyotype 45,X,-18,der(8;18)t(8; 18)(pter;p11.21). ( 19239091 )
2008
10
3D sonographic prenatal diagnosis of lobar holoprosencephaly associated with cebocephaly. Assessment and diagnosis with multiplanar reconstruction. ( 17546700 )
2007
11
Auditory event-related responses in children with semi-lobar holoprosencephaly. ( 16481137 )
2006
12
Lobar holoprosencephaly: prenatal MR diagnosis with postnatal MR correlation. ( 15849803 )
2005
13
Prenatal diagnosis of lobar holoprosencephaly using color Doppler: three cases with the anterior cerebral artery crawling under the skull. ( 15343609 )
2004
14
Lobar holoprosencephaly in a Miniature Schnauzer with hypodipsic hypernatremia. ( 14690207 )
2003
15
Lobar holoprosencephaly with vocal cord palsy. ( 12693788 )
2003
16
Mosaic trisomy 9 and lobar holoprosencephaly. ( 12210326 )
2002
17
Gelastic seizure with tectal tumor, lobar holoprosencephaly, and subependymal nodules: clinical report. ( 11952080 )
2002
18
A new clue to the prenatal diagnosis of lobar holoprosencephaly: the abnormal pathway of the anterior cerebral artery crawling under the skull. ( 12099261 )
2002
19
Lobar holoprosencephaly. ( 12269737 )
2002
20
Lobar holoprosencephaly in an infant born to a mother with classic phenylketonuria. ( 11078575 )
2000
21
Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele. ( 10756335 )
2000
22
Mediobasal and mantle defect of the prosencephalon: lobar holoprosencephaly, schizencephaly and diabetes insipidus. ( 9810564 )
1998
23
The development of the corpus callosum in semilobar and lobar holoprosencephaly. ( 8929294 )
1996
24
Anterior callosal agenesis in mild, lobar holoprosencephaly. ( 7567274 )
1995
25
Intraventricular fused fornices: a specific sign of fetal lobar holoprosencephaly. ( 12797228 )
1994
26
Psychosis associated with lobar holoprosencephaly. ( 7987790 )
1994
27
Surgical treatment of patients with lobar holoprosencephaly: a personal note. ( 8467017 )
1993
28
Prenatal diagnosis of lobar holoprosencephaly. ( 12796983 )
1992
29
Lobar holoprosencephaly and Xq22 deletion. ( 1781956 )
1991
30
Lobar holoprosencephaly presenting as spastic diplegia. ( 3402680 )
1988
31
Lobar holoprosencephaly with hydrocephalus: antenatal demonstration and differential diagnosis. ( 3543388 )
1986

Variations for Lobar Holoprosencephaly

ClinVar genetic disease variations for Lobar Holoprosencephaly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DISP1 NM_032890.4(DISP1): c.1087A> G (p.Asn363Asp) single nucleotide variant Uncertain significance rs876661336 GRCh37 Chromosome 1, 223175826: 223175826
2 DISP1 NM_032890.4(DISP1): c.1087A> G (p.Asn363Asp) single nucleotide variant Uncertain significance rs876661336 GRCh38 Chromosome 1, 223002484: 223002484
3 DISP1 NM_032890.4(DISP1): c.1657G> A (p.Glu553Lys) single nucleotide variant Uncertain significance rs760562145 GRCh38 Chromosome 1, 223003054: 223003054
4 DISP1 NM_032890.4(DISP1): c.1657G> A (p.Glu553Lys) single nucleotide variant Uncertain significance rs760562145 GRCh37 Chromosome 1, 223176396: 223176396
5 FGFR1 NM_023110.2(FGFR1): c.749G> C (p.Arg250Pro) single nucleotide variant Likely pathogenic rs121909645 GRCh38 Chromosome 8, 38424696: 38424696
6 FGFR1 NM_023110.2(FGFR1): c.749G> C (p.Arg250Pro) single nucleotide variant Likely pathogenic rs121909645 GRCh37 Chromosome 8, 38282214: 38282214

Expression for Lobar Holoprosencephaly

Search GEO for disease gene expression data for Lobar Holoprosencephaly.

Pathways for Lobar Holoprosencephaly

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

(show all 17)
# Super pathways Score Top Affiliating Genes
1 12.57 DLL1 FGF8 FGFR1 GLI2 PTCH1 SHH
2
Show member pathways
12.39 CDON GAS1 GLI2 PTCH1 SHH
3
Show member pathways
12.28 DLL1 FGF8 FGFR1 FOXH1 GLI2 NODAL
4 11.98 DLL1 GLI2 PTCH1 SHH TDGF1
5
Show member pathways
11.91 FGF8 FGFR1 FOXH1 GAS1 TDGF1
6 11.75 DLL1 FGF8 FGFR1
7
Show member pathways
11.74 CDON DISP1 GAS1 GLI2 PTCH1 SHH
8 11.62 FGF8 FGFR1 SHH
9
Show member pathways
11.4 FOXH1 NODAL TDGF1
10 11.37 FGF8 NODAL SHH
11 11.32 FGF8 FOXH1 SHH
12 11.2 GLI2 PTCH1 SHH
13 11.06 FGF8 GLI2 SHH
14
Show member pathways
10.62 CDON GAS1 GLI2 PTCH1 SHH STIL
15 10.6 DLL1 FGF8
16 10.44 PTCH1 SHH
17 10.21 FGF8 NODAL SHH TGIF1

GO Terms for Lobar Holoprosencephaly

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

(show top 50) (show all 71)
# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.99 FGFR1 NODAL PTCH1 SIX3 ZIC2
2 positive regulation of cell proliferation GO:0008284 9.98 DLL1 FGF8 FGFR1 GLI2 NODAL SHH
3 heart development GO:0007507 9.97 FGF8 GLI2 NODAL SHH TDGF1
4 in utero embryonic development GO:0001701 9.93 FGFR1 GLI2 NODAL PTCH1 STIL
5 kidney development GO:0001822 9.89 FGF8 GLI2 SHH
6 BMP signaling pathway GO:0030509 9.88 FGF8 NODAL TDGF1
7 positive regulation of neuron differentiation GO:0045666 9.88 CDON FGFR1 GLI2
8 negative regulation of cell differentiation GO:0045596 9.86 DLL1 NODAL SHH
9 embryonic limb morphogenesis GO:0030326 9.84 FGFR1 PTCH1 SHH
10 pattern specification process GO:0007389 9.84 GLI2 PTCH1 SHH
11 branching involved in ureteric bud morphogenesis GO:0001658 9.83 FGF8 PTCH1 SHH
12 mammary gland development GO:0030879 9.8 GLI2 PTCH1 TDGF1
13 anterior/posterior pattern specification GO:0009952 9.8 CDON FOXH1 GLI2 NODAL SHH TDGF1
14 anatomical structure development GO:0048856 9.79 GLI2 SHH TDGF1
15 developmental growth GO:0048589 9.78 GAS1 GLI2 SHH
16 cell fate commitment GO:0045165 9.78 FGF8 GAS1 NODAL SHH
17 embryonic pattern specification GO:0009880 9.77 DISP1 NODAL SHH
18 lung development GO:0030324 9.77 FGF8 FGFR1 GLI2 NODAL SHH
19 anatomical structure formation involved in morphogenesis GO:0048646 9.76 GLI2 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 renal system development GO:0072001 9.74 PTCH1 SHH
24 hindbrain development GO:0030902 9.74 GLI2 SHH
25 embryonic heart tube development GO:0035050 9.74 FGF8 NODAL
26 embryo development ending in birth or egg hatching GO:0009792 9.74 FGF8 TDGF1
27 regulation of smoothened signaling pathway GO:0008589 9.74 GAS1 GLI2 PTCH1
28 lung morphogenesis GO:0060425 9.73 FGF8 SHH
29 cell fate specification GO:0001708 9.73 CDON SHH
30 male genitalia development GO:0030539 9.73 FGF8 SHH
31 cell fate determination GO:0001709 9.73 DLL1 PTCH1
32 osteoblast development GO:0002076 9.73 GLI2 SHH
33 pharyngeal system development GO:0060037 9.73 FGF8 PTCH1
34 smoothened signaling pathway GO:0007224 9.73 CDON DISP1 GLI2 PTCH1 SHH STIL
35 multicellular organism development GO:0007275 9.73 DISP1 DLL1 FGF8 FGFR1 GLI2 KAZALD1
36 striated muscle cell differentiation GO:0051146 9.72 CDON SHH
37 embryonic morphogenesis GO:0048598 9.72 CDON SHH
38 somite development GO:0061053 9.72 PTCH1 SHH
39 generation of neurons GO:0048699 9.72 FGF8 FGFR1
40 spinal cord motor neuron differentiation GO:0021522 9.72 GLI2 PTCH1 SHH
41 aorta morphogenesis GO:0035909 9.71 FGF8 FOXH1
42 digestive tract morphogenesis GO:0048546 9.71 NODAL SHH
43 negative regulation of androgen receptor signaling pathway GO:0060766 9.71 FOXH1 NODAL
44 dorsal/ventral pattern formation GO:0009953 9.71 DISP1 GLI2 PTCH1 SHH
45 cell proliferation in forebrain GO:0021846 9.7 FGF8 SIX3
46 organ induction GO:0001759 9.7 FGF8 FGFR1
47 prostate gland development GO:0030850 9.7 GLI2 PTCH1 SHH
48 positive regulation of T cell differentiation in thymus GO:0033089 9.69 GLI2 SHH
49 nodal signaling pathway GO:0038092 9.69 NODAL TDGF1
50 positive regulation of skeletal muscle tissue development GO:0048643 9.69 CDON SHH

Molecular functions related to Lobar 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 Lobar 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
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