MCID: ALB014
MIFTS: 36

Alobar Holoprosencephaly

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

Aliases & Classifications for Alobar Holoprosencephaly

MalaCards integrated aliases for Alobar Holoprosencephaly:

Name: Alobar Holoprosencephaly 59 6

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Orphanet 59 ORPHA93925
UMLS via Orphanet 74 C0431363
ICD10 via Orphanet 34 Q04.2

Summaries for Alobar Holoprosencephaly

MalaCards based summary : Alobar Holoprosencephaly is related to holoprosencephaly 1 and holoprosencephaly. An important gene associated with Alobar Holoprosencephaly is DLL1 (Delta Like Canonical Notch Ligand 1), and among its related pathways/superpathways are Signaling by GPCR and Pathways in cancer. Affiliated tissues include cortex, and related phenotypes are cardiovascular system and embryo

Related Diseases for Alobar Holoprosencephaly

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

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 holoprosencephaly 1 30.3 GAS1 SHH SIX3
2 holoprosencephaly 23.9 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
3 acquired schizencephaly 10.7 SHH SIX3
4 holoprosencephaly 7 10.5 NODAL PTCH1
5 holoprosencephaly 5 10.4 TGIF1 ZIC2
6 holoprosencephaly 4 10.3 SHH TGIF1 ZIC2
7 tooth size 10.2 FGF8 SHH
8 holoprosencephaly 8 10.2 DISP1 TGIF1
9 cleft lip 10.2
10 cleft lip/palate 10.2
11 duodenal obstruction 10.2 CDON NODAL
12 pituitary stalk interruption syndrome 10.1 CDON SHH TGIF1
13 epilepsy 10.1
14 diabetes insipidus 10.1
15 sacral defect with anterior meningocele 10.1
16 diabetes mellitus 10.1
17 microcephaly 10.1
18 brachydactyly, type a1 10.0 PTCH1 SHH
19 gestational diabetes 10.0
20 holoprosencephaly 2 10.0
21 cystic lymphangioma 10.0
22 neural tube defects 10.0
23 neuronitis 10.0
24 cystic fibrosis 10.0
25 glaucoma 3, primary congenital, a 10.0
26 chromosome 21q duplication 10.0
27 aging 10.0
28 chromosome 3p duplication 10.0
29 iniencephaly 10.0
30 polydactyly 10.0
31 mosaic trisomy 13 10.0
32 craniosynostosis 10.0
33 sirenomelia 10.0
34 syndrome of inappropriate antidiuretic hormone 10.0
35 neuronal migration disorders 10.0
36 hydrocephalus 10.0
37 omphalocele 10.0
38 chromosome 18p deletion syndrome 10.0 NODAL SHH SIX3 ZIC2
39 congenital nervous system abnormality 9.9 NODAL SHH SIX3 ZIC2
40 calcifying epithelial odontogenic tumor 9.9 GLI2 PTCH1
41 nodular medulloblastoma 9.8 GLI2 PTCH1
42 holoprosencephaly, recurrent infections, and monocytosis 9.7 GLI2 PTCH1 SIX3
43 bardet-biedl syndrome 17 9.7 GLI2 PTCH1 SHH
44 infratentorial cancer 9.7 GLI2 PTCH1 SHH
45 pallister-hall syndrome 9.7 GLI2 SHH
46 integumentary system cancer 9.7 GLI2 PTCH1 SHH
47 patau syndrome 9.6 DISP1 NODAL SIX3 ZIC2
48 orofacial cleft 9.6 FGF8 NODAL SHH
49 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 9.6 GLI2 SHH
50 basal cell nevus syndrome 9.3 GAS1 GLI2 PTCH1 SHH

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



Diseases related to Alobar Holoprosencephaly

Symptoms & Phenotypes for Alobar Holoprosencephaly

MGI Mouse Phenotypes related to Alobar Holoprosencephaly:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.39 TDGF1 TGIF1 ZIC2 CDON DISP1 DLL1
2 embryo MP:0005380 10.38 GAS1 GLI2 NODAL PTCH1 SHH SIX3
3 growth/size/body region MP:0005378 10.36 GAS1 GLI2 HCRT NODAL PTCH1 SHH
4 cellular MP:0005384 10.35 CDON DISP1 DLL1 FGF8 GAS1 GLI2
5 craniofacial MP:0005382 10.34 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
6 digestive/alimentary MP:0005381 10.29 CDON DISP1 DLL1 FGF8 FOXH1 GLI2
7 behavior/neurological MP:0005386 10.28 CDON DLL1 FGF8 GAS1 GLI2 HCRT
8 mortality/aging MP:0010768 10.28 PTCH1 SHH SIX3 TDGF1 TGIF1 ZIC2
9 nervous system MP:0003631 10.24 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
10 homeostasis/metabolism MP:0005376 10.22 NODAL PTCH1 SHH TGIF1 DISP1 DLL1
11 limbs/digits/tail MP:0005371 10.16 CDON DISP1 DLL1 FGF8 GAS1 GLI2
12 hearing/vestibular/ear MP:0005377 10.1 DLL1 FGF8 FOXH1 GAS1 GLI2 PTCH1
13 endocrine/exocrine gland MP:0005379 10.07 DISP1 DLL1 FGF8 FOXH1 GLI2 PTCH1
14 muscle MP:0005369 10.06 FGF8 FOXH1 GLI2 HCRT NODAL PTCH1
15 normal MP:0002873 10.06 DISP1 DLL1 FGF8 FOXH1 GLI2 NODAL
16 respiratory system MP:0005388 10.03 NODAL PTCH1 SHH SIX3 TGIF1 FGF8
17 skeleton MP:0005390 9.97 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
18 vision/eye MP:0005391 9.44 PTCH1 SHH SIX3 TDGF1 TGIF1 ZIC2
19 taste/olfaction MP:0005394 9.35 NODAL PTCH1 SHH SIX3 TGIF1

Drugs & Therapeutics for Alobar Holoprosencephaly

Search Clinical Trials , NIH Clinical Center for Alobar Holoprosencephaly

Genetic Tests for Alobar Holoprosencephaly

Anatomical Context for Alobar Holoprosencephaly

MalaCards organs/tissues related to Alobar Holoprosencephaly:

41
Cortex

Publications for Alobar Holoprosencephaly

Articles related to Alobar Holoprosencephaly:

(show top 50) (show all 63)
# Title Authors Year
1
Management Strategies for Hydrocephalus in Alobar Holoprosencephaly: A Case Report and Discussion. ( 29902800 )
2018
2
7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case. ( 29456484 )
2017
3
Alobar Holoprosencephaly Associated with Meningomyelocoele and Omphalocoele: An Unusual Coexistence. ( 28050387 )
2016
4
Alobar holoprosencephaly, proboscis and cyclopia in a chromosomally normal fetus: Prenatal diagnosis and fetal outcome. ( 27086438 )
2015
5
Successful management of discordant alobar holoprosencephaly in monochorionic diamniotic twins with normal karyotype: a case report. ( 25864296 )
2015
6
ALOBAR HOLOPROSENCEPHALY, CLEFT LIP/PALATE, URORECTAL SEPTUM MALFORMATION SEQUENCE AND CONGENITAL PERINEAL HERNIA IN A FETUS. ( 26625663 )
2015
7
Cyclopia, proboscis and alobar holoprosencephaly representative for trisomy 13. ( 25365860 )
2014
8
Antenatal diagnosis of alobar holoprosencephaly. ( 25126440 )
2014
9
Antenatal detection of maternal unipartental disomy of chromosome 2 in a fetus with non-chromosomal, non-syndromic alobar holoprosencephaly. ( 24243683 )
2014
10
A new case of holoprosencephaly-polydactyly syndrome with alobar holoprosencephaly, preaxial polydactyly and congenital glaucoma. ( 24783655 )
2014
11
Alobar holoprosencephaly secondary to CMV infection. ( 25184025 )
2014
12
Alobar holoprosencephaly with cyclopia - autopsy-based observations from one medical center. ( 23791929 )
2013
13
Airway management in an infant with alobar holoprosencephaly and cebocephaly associated with maternal diabetes mellitus. ( 23599105 )
2013
14
Syndrome of inappropriate antidiuretic hormone secretion refractory to treatment in a newborn with alobar holoprosencephaly. ( 24341147 )
2013
15
Alobar holoprosencephaly, cebocephaly, and micropenis in a Klinefelter fetus of a diabetic mother. ( 23276570 )
2012
16
Prenatal diagnosis of alobar holoprosencephaly, cyclopia, proboscis, and isochromosome 18q in the second trimester. ( 23705090 )
2011
17
EEG findings in an adult with severe case of alobar holoprosencephaly. ( 21763157 )
2011
18
Alobar holoprosencephaly. ( 19534249 )
2009
19
Alobar holoprosencephaly associated with cebocephaly and craniosynostosis. ( 19673365 )
2009
20
Prenatal diagnosis of alobar holoprosencephaly, by use of ultrasound and magnetic resonance imaging in the second trimester. ( 19916719 )
2009
21
First trimester three-dimensional transvaginal imaging of alobar holoprosencephaly associated with proboscis and hypotelorism (ethmocephaly) in a 46,XX fetus. ( 18230123 )
2008
22
Unusual occurrence of cystic fibrosis and alobar holoprosencephaly. ( 21063314 )
2008
23
Prenatal visualization of cebocephaly with a prominent nose in a second-trimester fetus with alobar holoprosencephaly and trisomy 13. ( 18400592 )
2008
24
Alobar holoprosencephaly. ( 19203004 )
2008
25
Alobar holoprosencephaly, mobile proboscis and trisomy 13 in a fetus with maternal gestational diabetes mellitus: a 2D ultrasound diagnosis and review of the literature. ( 17047972 )
2007
26
Three-dimensional first-trimester transvaginal diagnosis of alobar holoprosencephaly associated with omphalocele in a 46,XX fetus. ( 16450277 )
2006
27
Prenatal diagnosis of alobar holoprosencephaly with cystic hygroma. ( 17197356 )
2006
28
Prenatal diagnosis of concomitant alobar holoprosencephaly and caudal regression syndrome associated with maternal diabetes. ( 15791681 )
2005
29
SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor. ( 15942952 )
2005
30
Neuropathological evaluation of the diencephalon, basal ganglia and upper brainstem in alobar holoprosencephaly. ( 14685895 )
2004
31
Perinatal identification of caudal regression syndrome and alobar holoprosencephaly in pregnancies with poor maternal metabolic control. ( 15658628 )
2004
32
Alobar holoprosencephaly: report of two cases with unusual findings. ( 14651170 )
2003
33
Autosomal recessive alobar holoprosencephaly with essentially normal faces. ( 12239716 )
2002
34
Prenatal diagnosis of iniencephaly and alobar holoprosencephaly with trisomy 13 mosaicism: a case report. ( 12478643 )
2002
35
Prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis. ( 11360273 )
2001
36
Alobar holoprosencephaly at 9 weeks gestational age visualized by two- and three-dimensional ultrasound. ( 10776015 )
2000
37
Prenatal diagnosis of alobar holoprosencephaly by two-dimensional and three-dimensional ultrasound. ( 10820408 )
2000
38
Alobar holoprosencephaly. ( 11070439 )
2000
39
Prolonged survival and childhood-onset epilepsy in alobar holoprosencephaly. ( 10855513 )
2000
40
Histological findings in a case of alobar holoprosencephaly diagnosed at 10 weeks of pregnancy. ( 10521846 )
1999
41
Prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia. ( 10521829 )
1999
42
Unusually prolonged survival and childhood-onset epilepsy in a case of alobar holoprosencephaly. ( 10392502 )
1999
43
Prenatal diagnosis of alobar holoprosencephaly at 10 weeks of gestation. ( 10380303 )
1999
44
Prenatal diagnosis of de novo isochromosome 13q associated with microcephaly, alobar holoprosencephaly and cebocephaly in a fetus. ( 9602489 )
1998
45
Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth. ( 9132501 )
1997
46
Alobar holoprosencephaly with diabetes insipidus and neuronal migration disorder. ( 8534287 )
1995
47
Distribution of leptomeningeal glioneuronal heterotopia in alobar holoprosencephaly. ( 8080397 )
1994
48
Autosomal recessive alobar holoprosencephaly with cyclops in three female sibs: prenatal ultrasonographic diagnosis at 18th week. ( 8281281 )
1993
49
Radiologic-pathologic correlation. Alobar holoprosencephaly. ( 8237694 )
1993
50
Early transvaginal sonographic diagnosis of alobar holoprosencephaly. ( 1754562 )
1991

Variations for Alobar Holoprosencephaly

ClinVar genetic disease variations for Alobar Holoprosencephaly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DLL1 NM_005618.3(DLL1): c.2117C> T (p.Ser706Leu) single nucleotide variant Uncertain significance rs760189276 GRCh37 Chromosome 6, 170592125: 170592125
2 DLL1 NM_005618.3(DLL1): c.2117C> T (p.Ser706Leu) single nucleotide variant Uncertain significance rs760189276 GRCh38 Chromosome 6, 170283037: 170283037

Expression for Alobar Holoprosencephaly

Search GEO for disease gene expression data for Alobar Holoprosencephaly.

Pathways for Alobar Holoprosencephaly

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

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.96 CDON DLL1 FGF8 FOXH1 GAS1 GLI2
2 12.63 DLL1 FGF8 GLI2 PTCH1 SHH
3
Show member pathways
12.34 CDON GAS1 GLI2 PTCH1 SHH
4
Show member pathways
12.22 DLL1 FGF8 FOXH1 GLI2 NODAL ZIC2
5 11.98 DLL1 GLI2 PTCH1 SHH TDGF1
6
Show member pathways
11.91 GLI2 PTCH1 SHH
7
Show member pathways
11.86 FGF8 FOXH1 GAS1 TDGF1
8
Show member pathways
11.74 CDON DISP1 GAS1 GLI2 PTCH1 SHH
9
Show member pathways
11.37 FOXH1 NODAL TDGF1
10 11.33 FGF8 NODAL SHH
11 11.3 FGF8 FOXH1 SHH
12 11.2 GLI2 PTCH1 SHH
13 11.02 FGF8 GLI2 SHH
14 10.58 DLL1 FGF8
15
Show member pathways
10.54 CDON GAS1 GLI2 PTCH1 SHH
16 10.43 PTCH1 SHH
17 10.21 FGF8 NODAL SHH TGIF1

GO Terms for Alobar Holoprosencephaly

Biological processes related to Alobar 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 9.97 NODAL PTCH1 SIX3 ZIC2
2 multicellular organism development GO:0007275 9.97 DISP1 DLL1 FGF8 GLI2 NODAL SHH
3 heart development GO:0007507 9.89 FGF8 GLI2 NODAL SHH TDGF1
4 kidney development GO:0001822 9.88 FGF8 GLI2 SHH
5 BMP signaling pathway GO:0030509 9.87 FGF8 NODAL TDGF1
6 negative regulation of cell differentiation GO:0045596 9.84 DLL1 NODAL SHH
7 pattern specification process GO:0007389 9.82 GLI2 PTCH1 SHH
8 lung development GO:0030324 9.81 FGF8 GLI2 NODAL SHH
9 branching involved in ureteric bud morphogenesis GO:0001658 9.79 FGF8 PTCH1 SHH
10 mammary gland development GO:0030879 9.76 GLI2 PTCH1 TDGF1
11 anatomical structure development GO:0048856 9.75 GLI2 SHH TDGF1
12 branching involved in blood vessel morphogenesis GO:0001569 9.74 FGF8 SHH
13 pituitary gland development GO:0021983 9.74 GLI2 SIX3
14 branching morphogenesis of an epithelial tube GO:0048754 9.74 GLI2 SHH
15 embryonic hindlimb morphogenesis GO:0035116 9.74 FGF8 SHH
16 telencephalon development GO:0021537 9.74 FGF8 SIX3
17 thyroid gland development GO:0030878 9.74 FGF8 SHH
18 vasculature development GO:0001944 9.74 NODAL SHH
19 developmental growth GO:0048589 9.74 GAS1 GLI2 SHH
20 dopaminergic neuron differentiation GO:0071542 9.73 FGF8 SHH
21 limb morphogenesis GO:0035108 9.73 FGF8 PTCH1
22 proximal/distal pattern formation GO:0009954 9.73 DLL1 GLI2
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 embryonic pattern specification GO:0009880 9.73 DISP1 NODAL SHH
27 embryo development ending in birth or egg hatching GO:0009792 9.72 FGF8 TDGF1
28 lung morphogenesis GO:0060425 9.72 FGF8 SHH
29 cell fate specification GO:0001708 9.72 CDON SHH
30 male genitalia development GO:0030539 9.72 FGF8 SHH
31 cell fate determination GO:0001709 9.72 DLL1 PTCH1
32 osteoblast development GO:0002076 9.71 GLI2 SHH
33 pharyngeal system development GO:0060037 9.71 FGF8 PTCH1
34 striated muscle cell differentiation GO:0051146 9.71 CDON SHH
35 embryonic morphogenesis GO:0048598 9.71 CDON SHH
36 somite development GO:0061053 9.71 PTCH1 SHH
37 anatomical structure formation involved in morphogenesis GO:0048646 9.71 GLI2 NODAL SHH
38 cell fate commitment GO:0045165 9.71 FGF8 GAS1 NODAL SHH
39 aorta morphogenesis GO:0035909 9.7 FGF8 FOXH1
40 digestive tract morphogenesis GO:0048546 9.7 NODAL SHH
41 regulation of smoothened signaling pathway GO:0008589 9.7 GAS1 GLI2 PTCH1
42 negative regulation of androgen receptor signaling pathway GO:0060766 9.69 FOXH1 NODAL
43 cell proliferation in forebrain GO:0021846 9.69 FGF8 SIX3
44 branching involved in salivary gland morphogenesis GO:0060445 9.68 FGF8 SHH
45 positive regulation of T cell differentiation in thymus GO:0033089 9.68 GLI2 SHH
46 nodal signaling pathway GO:0038092 9.68 NODAL TDGF1
47 positive regulation of skeletal muscle tissue development GO:0048643 9.67 CDON SHH
48 dorsal/ventral pattern formation GO:0009953 9.67 DISP1 GLI2 PTCH1 SHH
49 forebrain dorsal/ventral pattern formation GO:0021798 9.66 FGF8 SIX3
50 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.66 GLI2 PTCH1

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

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.43 FGF8 NODAL TDGF1
2 co-SMAD binding GO:0070410 9.16 FOXH1 TGIF1
3 patched binding GO:0005113 8.96 PTCH1 SHH
4 morphogen activity GO:0016015 8.62 NODAL SHH

Sources for Alobar 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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