MCID: ALB014
MIFTS: 37

Alobar Holoprosencephaly

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

Aliases & Classifications for Alobar Holoprosencephaly

MalaCards integrated aliases for Alobar Holoprosencephaly:

Name: Alobar Holoprosencephaly 60 6

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

ICD10 via Orphanet 35 Q04.2
UMLS via Orphanet 75 C0431363
Orphanet 60 ORPHA93925

Summaries for Alobar Holoprosencephaly

MalaCards based summary : Alobar Holoprosencephaly is related to holoprosencephaly 1 and patau syndrome. 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, pituitary and thyroid, 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 59)
# Related Disease Score Top Affiliating Genes
1 holoprosencephaly 1 30.5 GAS1 SHH SIX3
2 patau syndrome 30.2 NODAL SIX3 ZIC2
3 agnathia-otocephaly complex 30.0 FGF8 GLI2 NODAL SHH
4 holoprosencephaly 28.0 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
5 chromosomal triplication 10.5
6 cleft lip 10.4
7 cleft lip/palate 10.4
8 sacral defect with anterior meningocele 10.3
9 diabetes mellitus 10.3
10 epilepsy 10.3
11 diabetes insipidus 10.3
12 microcephaly 10.3
13 tooth size 10.3 FGF8 SHH
14 duodenal obstruction 10.2 CDON NODAL
15 coloboma of macula 10.1
16 holoprosencephaly 2 10.1
17 neural tube defects 10.1
18 cystic fibrosis 10.1
19 glaucoma 3, primary congenital, a 10.1
20 polydactyly 10.1
21 craniosynostosis 10.1
22 hydrocephalus 10.1
23 omphalocele 10.1
24 gestational diabetes 10.1
25 cystic lymphangioma 10.1
26 intracranial hypertension 10.1
27 chromosome 3p duplication 10.1
28 congenital hydrocephalus 10.1
29 iniencephaly 10.1
30 mosaic trisomy 13 10.1
31 penis agenesis 10.1
32 sirenomelia 10.1
33 syndrome of inappropriate antidiuretic hormone 10.1
34 holoprosencephaly 7 10.1 NODAL PTCH1
35 calcifying epithelial odontogenic tumor 10.0 GLI2 PTCH1
36 holoprosencephaly 8 10.0 DISP1 TGIF1
37 acquired schizencephaly 10.0 SHH SIX3
38 focal epithelial hyperplasia 10.0 FGF8 GLI2 SHH
39 pallister-hall syndrome 10.0 GLI2 SHH
40 pituitary stalk interruption syndrome 10.0 CDON SHH TGIF1
41 greig cephalopolysyndactyly syndrome 9.9 GLI2 PTCH1 SHH
42 nodular medulloblastoma 9.9 GLI2 PTCH1
43 bardet-biedl syndrome 17 9.9 GLI2 PTCH1 SHH
44 brachydactyly, type a1 9.9 CDON GAS1 PTCH1 SHH
45 infratentorial cancer 9.9 GLI2 PTCH1 SHH
46 holoprosencephaly 5 9.9 TGIF1 ZIC2
47 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 9.9 GLI2 SHH
48 holoprosencephaly 4 9.8 SHH TGIF1 ZIC2
49 basal cell nevus syndrome 9.8 GAS1 GLI2 PTCH1 SHH
50 basal cell carcinoma 9.7 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:

47 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.39 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
2 embryo MP:0005380 10.38 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
3 growth/size/body region MP:0005378 10.36 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
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 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
9 nervous system MP:0003631 10.24 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
10 homeostasis/metabolism MP:0005376 10.22 DISP1 DLL1 FGF8 FOXH1 GAS1 GLI2
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 DISP1 DLL1 FGF8 FOXH1 GLI2 HCRT
15 normal MP:0002873 10.06 DISP1 DLL1 FGF8 FOXH1 GLI2 NODAL
16 respiratory system MP:0005388 10.03 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
17 skeleton MP:0005390 9.97 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
18 vision/eye MP:0005391 9.44 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
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:

42
Cortex, Pituitary, Thyroid

Publications for Alobar Holoprosencephaly

Articles related to Alobar Holoprosencephaly:

(show top 50) (show all 66)
# Title Authors Year
1
Alobar holoprosencephaly detected in a nine-week embryo. ( 30625294 )
2019
2
Ventriculoperitoneal Shunting in Alobar Holoprosencephaly: Does it Work Even When Patient Has No Sign of Raised Intracranial Pressure? ( 30896515 )
2019
3
Management Strategies for Hydrocephalus in Alobar Holoprosencephaly: A Case Report and Discussion. ( 29902800 )
2018
4
Alobar holoprosencephaly associated with a rare chromosomal abnormality: Case report and literature review. ( 30024536 )
2018
5
7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case. ( 29456484 )
2017
6
Alobar Holoprosencephaly Associated with Meningomyelocoele and Omphalocoele: An Unusual Coexistence. ( 28050387 )
2016
7
Successful management of discordant alobar holoprosencephaly in monochorionic diamniotic twins with normal karyotype: a case report. ( 25864296 )
2015
8
ALOBAR HOLOPROSENCEPHALY, CLEFT LIP/PALATE, URORECTAL SEPTUM MALFORMATION SEQUENCE AND CONGENITAL PERINEAL HERNIA IN A FETUS. ( 26625663 )
2015
9
Alobar holoprosencephaly, proboscis and cyclopia in a chromosomally normal fetus: Prenatal diagnosis and fetal outcome. ( 27086438 )
2015
10
Antenatal detection of maternal unipartental disomy of chromosome 2 in a fetus with non-chromosomal, non-syndromic alobar holoprosencephaly. ( 24243683 )
2014
11
A new case of holoprosencephaly-polydactyly syndrome with alobar holoprosencephaly, preaxial polydactyly and congenital glaucoma. ( 24783655 )
2014
12
Antenatal diagnosis of alobar holoprosencephaly. ( 25126440 )
2014
13
Alobar holoprosencephaly secondary to CMV infection. ( 25184025 )
2014
14
Cyclopia, proboscis and alobar holoprosencephaly representative for trisomy 13. ( 25365860 )
2014
15
Airway management in an infant with alobar holoprosencephaly and cebocephaly associated with maternal diabetes mellitus. ( 23599105 )
2013
16
Alobar holoprosencephaly with cyclopia - autopsy-based observations from one medical center. ( 23791929 )
2013
17
Syndrome of inappropriate antidiuretic hormone secretion refractory to treatment in a newborn with alobar holoprosencephaly. ( 24341147 )
2013
18
Alobar holoprosencephaly, cebocephaly, and micropenis in a Klinefelter fetus of a diabetic mother. ( 23276570 )
2012
19
EEG findings in an adult with severe case of alobar holoprosencephaly. ( 21763157 )
2011
20
Prenatal diagnosis of alobar holoprosencephaly, cyclopia, proboscis, and isochromosome 18q in the second trimester. ( 23705090 )
2011
21
Alobar holoprosencephaly. ( 19534249 )
2009
22
Alobar holoprosencephaly associated with cebocephaly and craniosynostosis. ( 19673365 )
2009
23
Prenatal diagnosis of alobar holoprosencephaly, by use of ultrasound and magnetic resonance imaging in the second trimester. ( 19916719 )
2009
24
First trimester three-dimensional transvaginal imaging of alobar holoprosencephaly associated with proboscis and hypotelorism (ethmocephaly) in a 46,XX fetus. ( 18230123 )
2008
25
Prenatal visualization of cebocephaly with a prominent nose in a second-trimester fetus with alobar holoprosencephaly and trisomy 13. ( 18400592 )
2008
26
Alobar holoprosencephaly. ( 19203004 )
2008
27
Unusual occurrence of cystic fibrosis and alobar holoprosencephaly. ( 21063314 )
2008
28
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
29
Three-dimensional first-trimester transvaginal diagnosis of alobar holoprosencephaly associated with omphalocele in a 46,XX fetus. ( 16450277 )
2006
30
Prenatal diagnosis of alobar holoprosencephaly with cystic hygroma. ( 17197356 )
2006
31
Prenatal diagnosis of concomitant alobar holoprosencephaly and caudal regression syndrome associated with maternal diabetes. ( 15791681 )
2005
32
SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor. ( 15942952 )
2005
33
Neuropathological evaluation of the diencephalon, basal ganglia and upper brainstem in alobar holoprosencephaly. ( 14685895 )
2004
34
Perinatal identification of caudal regression syndrome and alobar holoprosencephaly in pregnancies with poor maternal metabolic control. ( 15658628 )
2004
35
Alobar holoprosencephaly: report of two cases with unusual findings. ( 14651170 )
2003
36
Autosomal recessive alobar holoprosencephaly with essentially normal faces. ( 12239716 )
2002
37
Prenatal diagnosis of iniencephaly and alobar holoprosencephaly with trisomy 13 mosaicism: a case report. ( 12478643 )
2002
38
Prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis. ( 11360273 )
2001
39
Prolonged survival and childhood-onset epilepsy in alobar holoprosencephaly. ( 10855513 )
2000
40
Alobar holoprosencephaly. ( 11070439 )
2000
41
Alobar holoprosencephaly at 9 weeks gestational age visualized by two- and three-dimensional ultrasound. ( 10776015 )
2000
42
Prenatal diagnosis of alobar holoprosencephaly by two-dimensional and three-dimensional ultrasound. ( 10820408 )
2000
43
Prenatal diagnosis of alobar holoprosencephaly at 10 weeks of gestation. ( 10380303 )
1999
44
Unusually prolonged survival and childhood-onset epilepsy in a case of alobar holoprosencephaly. ( 10392502 )
1999
45
Prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia. ( 10521829 )
1999
46
Histological findings in a case of alobar holoprosencephaly diagnosed at 10 weeks of pregnancy. ( 10521846 )
1999
47
Prenatal diagnosis of de novo isochromosome 13q associated with microcephaly, alobar holoprosencephaly and cebocephaly in a fetus. ( 9602489 )
1998
48
Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth. ( 9132501 )
1997
49
Alobar holoprosencephaly with diabetes insipidus and neuronal migration disorder. ( 8534287 )
1995
50
Distribution of leptomeningeal glioneuronal heterotopia in alobar holoprosencephaly. ( 8080397 )
1994

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
13.95 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
12.23 GLI2 PTCH1 SHH
5
Show member pathways
12.22 DLL1 FGF8 FOXH1 GLI2 NODAL ZIC2
6 11.98 DLL1 GLI2 PTCH1 SHH TDGF1
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 regulation of cell proliferation GO:0042127 9.92 PTCH1 SHH SIX3
4 heart development GO:0007507 9.89 FGF8 GLI2 NODAL SHH TDGF1
5 kidney development GO:0001822 9.88 FGF8 GLI2 SHH
6 BMP signaling pathway GO:0030509 9.85 FGF8 NODAL TDGF1
7 pattern specification process GO:0007389 9.84 GLI2 PTCH1 SHH
8 lung development GO:0030324 9.84 FGF8 GLI2 NODAL SHH
9 negative regulation of cell differentiation GO:0045596 9.82 DLL1 NODAL SHH
10 branching involved in ureteric bud morphogenesis GO:0001658 9.78 FGF8 PTCH1 SHH
11 mammary gland development GO:0030879 9.76 GLI2 PTCH1 TDGF1
12 developmental growth GO:0048589 9.75 GAS1 GLI2 SHH
13 pituitary gland development GO:0021983 9.74 GLI2 SIX3
14 telencephalon development GO:0021537 9.74 FGF8 SIX3
15 branching involved in blood vessel morphogenesis GO:0001569 9.74 FGF8 SHH
16 embryonic hindlimb morphogenesis GO:0035116 9.74 FGF8 SHH
17 branching morphogenesis of an epithelial tube GO:0048754 9.74 GLI2 SHH
18 vasculature development GO:0001944 9.74 NODAL SHH
19 thyroid gland development GO:0030878 9.73 FGF8 SHH
20 proximal/distal pattern formation GO:0009954 9.73 DLL1 GLI2
21 limb morphogenesis GO:0035108 9.73 FGF8 PTCH1
22 renal system development GO:0072001 9.73 PTCH1 SHH
23 dopaminergic neuron differentiation GO:0071542 9.73 FGF8 SHH
24 embryo development ending in birth or egg hatching GO:0009792 9.73 FGF8 TDGF1
25 regulation of smoothened signaling pathway GO:0008589 9.73 GAS1 GLI2 PTCH1
26 smoothened signaling pathway GO:0007224 9.73 CDON GLI2 PTCH1 SHH
27 hindbrain development GO:0030902 9.72 GLI2 SHH
28 lung morphogenesis GO:0060425 9.72 FGF8 SHH
29 embryonic heart tube development GO:0035050 9.72 FGF8 NODAL
30 cell fate specification GO:0001708 9.72 CDON SHH
31 male genitalia development GO:0030539 9.72 FGF8 SHH
32 anatomical structure formation involved in morphogenesis GO:0048646 9.72 GLI2 NODAL SHH
33 osteoblast development GO:0002076 9.71 GLI2 SHH
34 cell fate determination GO:0001709 9.71 DLL1 PTCH1
35 pharyngeal system development GO:0060037 9.71 FGF8 PTCH1
36 embryonic morphogenesis GO:0048598 9.71 CDON SHH
37 somite development GO:0061053 9.71 PTCH1 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 negative regulation of androgen receptor signaling pathway GO:0060766 9.7 FOXH1 NODAL
42 embryonic pattern specification GO:0009880 9.7 DISP1 NODAL SHH
43 prostate gland development GO:0030850 9.69 PTCH1 SHH
44 striated muscle cell differentiation GO:0051146 9.69 CDON SHH
45 branching involved in salivary gland morphogenesis GO:0060445 9.69 FGF8 SHH
46 spinal cord motor neuron differentiation GO:0021522 9.69 GLI2 PTCH1 SHH
47 cell proliferation in forebrain GO:0021846 9.68 FGF8 SIX3
48 nodal signaling pathway GO:0038092 9.68 NODAL TDGF1
49 positive regulation of T cell differentiation in thymus GO:0033089 9.67 GLI2 SHH
50 positive regulation of skeletal muscle tissue development GO:0048643 9.67 CDON SHH

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.72 FOXH1 GLI2 SIX3 TGIF1 ZIC2
2 growth factor activity GO:0008083 9.43 FGF8 NODAL TDGF1
3 co-SMAD binding GO:0070410 9.16 FOXH1 TGIF1
4 patched binding GO:0005113 8.96 PTCH1 SHH
5 morphogen activity GO:0016015 8.62 NODAL SHH

Sources for Alobar 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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