MCID: ALB014
MIFTS: 34

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 56

Characteristics:

Orphanet epidemiological data:

56
alobar holoprosencephaly
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 56 ORPHA93925
UMLS via Orphanet 70 C0431363
ICD10 via Orphanet 34 Q04.2

Summaries for Alobar Holoprosencephaly

MalaCards based summary : Alobar Holoprosencephaly is related to holoprosencephaly 2 and holoprosencephaly. An important gene associated with Alobar Holoprosencephaly is SHH (Sonic Hedgehog), and among its related pathways/superpathways are Pathways in cancer and Signaling by Hedgehog. 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 all 50)
id Related Disease Score Top Affiliating Genes
1 holoprosencephaly 2 30.4 SHH SIX3
2 holoprosencephaly 10.8
3 fas-related autoimmune lymphoproliferative syndrome 10.6 SHH SIX3
4 xeroderma pigmentosum, group a 10.6 NODAL PTCH1
5 camptocormism 10.4 GLI2 PTCH1
6 alopecia areata 1 10.4 SHH TGIF1
7 cataract 44 10.3 SHH SIX3
8 microphthalmia with coloboma 5 10.3 SHH SIX3 TGIF1
9 hypotrichosis of eyelid 10.3 NODAL SIX3 ZIC2
10 homocystinuria due to defect in methylation cbl g 10.3 GLI2 PTCH1 SIX3
11 lateral sinus thrombosis 10.3 CDON NODAL
12 macular dystrophy, patterned, 3 10.3 GLI2 PTCH1 SHH
13 skin hemangioma 10.3 GLI2 PTCH1 SHH
14 heavy chain disease 10.2 GLI2 PTCH1 SHH
15 functional colonic disease 10.2 GLI2 PTCH1
16 ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency 10.2 DISP1 TGIF1
17 polydactyly, preaxial, type iv 10.1 GAS1 GLI2 SHH
18 pityriasis rotunda 10.1 CDON SHH TGIF1
19 cleft lip 10.1
20 majeed syndrome 10.1 NODAL SHH SIX3 ZIC2
21 angiodysplasia 10.1 NODAL SHH SIX3 ZIC2
22 epilepsy, juvenile myoclonic 9 10.1 PTCH1 SHH
23 caudal regression syndrome 10.0
24 microcephaly 10.0
25 epilepsy 10.0
26 diabetes insipidus 10.0
27 basal cell nevus syndrome 9.9 GAS1 GLI2 PTCH1 SHH
28 orchitis 9.9 GLI2 PTCH1 SHH
29 cystic fibrosis 9.9
30 holoprosencephaly 1 9.9
31 craniosynostosis 9.9
32 omphalocele 9.9
33 polydactyly 9.9
34 gestational diabetes 9.9
35 coloboma 9.9
36 neuronitis 9.9
37 iniencephaly 9.9
38 sirenomelia 9.9
39 syndrome of inappropriate antidiuretic hormone 9.9
40 neuronal migration disorders 9.9
41 cleft lip/palate 9.9
42 agnathia-otocephaly complex 9.8 FGF8 GLI2 NODAL SHH
43 shwachman-diamond type metaphyseal dysplasia 9.6 FGF8 NODAL SHH SIX3 ZIC2
44 hydrocephalus 8.1 CDON FGF8 GLI2 NODAL PTCH1 SHH
45 pelizaeus-merzbacher disease in female carriers 5.5 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
46 sporadic pheochromocytoma 5.5 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
47 isolated facial myokymia 5.5 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
48 celosomia 5.5 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
49 laryngotracheoesophageal cleft type 4 5.4 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
50 laryngotracheoesophageal cleft type 2 5.2 CDON DISP1 DLL1 FGF8 FOXH1 GAS1

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:

44 (show all 18)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.38 HCRT GAS1 FOXH1 PTCH1 NODAL SHH
2 embryo MP:0005380 10.37 GAS1 NODAL GLI2 FOXH1 PTCH1 SIX3
3 growth/size/body region MP:0005378 10.36 GLI2 FOXH1 HCRT GAS1 PTCH1 SIX3
4 cellular MP:0005384 10.34 GLI2 GAS1 SHH PTCH1 NODAL TGIF1
5 craniofacial MP:0005382 10.33 GAS1 NODAL GLI2 FOXH1 PTCH1 SIX3
6 mortality/aging MP:0010768 10.28 GLI2 FOXH1 GAS1 SHH PTCH1 SIX3
7 behavior/neurological MP:0005386 10.27 GLI2 HCRT GAS1 FGF8 SHH PTCH1
8 digestive/alimentary MP:0005381 10.24 GLI2 FOXH1 PTCH1 SIX3 NODAL SHH
9 nervous system MP:0003631 10.24 HCRT GAS1 GLI2 FOXH1 PTCH1 SIX3
10 homeostasis/metabolism MP:0005376 10.22 FOXH1 GLI2 HCRT GAS1 FGF8 NODAL
11 limbs/digits/tail MP:0005371 10.16 GAS1 GLI2 PTCH1 SHH TGIF1 ZIC2
12 muscle MP:0005369 10.06 FOXH1 GLI2 HCRT NODAL SHH PTCH1
13 normal MP:0002873 10.06 GLI2 FOXH1 SHH PTCH1 NODAL TGIF1
14 hearing/vestibular/ear MP:0005377 10.04 FOXH1 GLI2 GAS1 SHH TGIF1 DLL1
15 respiratory system MP:0005388 10.03 HCRT GAS1 GLI2 FOXH1 PTCH1 SIX3
16 skeleton MP:0005390 9.97 GAS1 GLI2 FOXH1 PTCH1 SIX3 NODAL
17 vision/eye MP:0005391 9.44 GAS1 NODAL GLI2 FOXH1 PTCH1 SIX3
18 taste/olfaction MP:0005394 9.26 NODAL SHH SIX3 TGIF1

Drugs & Therapeutics for Alobar Holoprosencephaly

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Clinical and Genetic Studies on Holoprosencephaly Recruiting NCT00088426

Search NIH Clinical Center for Alobar Holoprosencephaly

Genetic Tests for Alobar Holoprosencephaly

Anatomical Context for Alobar Holoprosencephaly

MalaCards organs/tissues related to Alobar Holoprosencephaly:

39
Cortex

Publications for Alobar Holoprosencephaly

Articles related to Alobar Holoprosencephaly:

(show top 50) (show all 60)
id Title Authors Year
1
Alobar Holoprosencephaly Associated with Meningomyelocoele and Omphalocoele: An Unusual Coexistence. ( 28050387 )
2016
2
ALOBAR HOLOPROSENCEPHALY, CLEFT LIP/PALATE, URORECTAL SEPTUM MALFORMATION SEQUENCE AND CONGENITAL PERINEAL HERNIA IN A FETUS. ( 26625663 )
2015
3
Alobar holoprosencephaly, proboscis and cyclopia in a chromosomally normal fetus: Prenatal diagnosis and fetal outcome. ( 27086438 )
2015
4
Successful management of discordant alobar holoprosencephaly in monochorionic diamniotic twins with normal karyotype: a case report. ( 25864296 )
2015
5
A new case of holoprosencephaly-polydactyly syndrome with alobar holoprosencephaly, preaxial polydactyly and congenital glaucoma. ( 24783655 )
2014
6
Alobar holoprosencephaly secondary to CMV infection. ( 25184025 )
2014
7
Cyclopia, proboscis and alobar holoprosencephaly representative for trisomy 13. ( 25365860 )
2014
8
Antenatal detection of maternal unipartental disomy of chromosome 2 in a fetus with non-chromosomal, non-syndromic alobar holoprosencephaly. ( 24243683 )
2014
9
Antenatal diagnosis of alobar holoprosencephaly. ( 25126440 )
2014
10
Syndrome of inappropriate antidiuretic hormone secretion refractory to treatment in a newborn with alobar holoprosencephaly. ( 24341147 )
2013
11
Alobar holoprosencephaly with cyclopia - autopsy-based observations from one medical center. ( 23791929 )
2013
12
Airway management in an infant with alobar holoprosencephaly and cebocephaly associated with maternal diabetes mellitus. ( 23599105 )
2013
13
Alobar holoprosencephaly, cebocephaly, and micropenis in a Klinefelter fetus of a diabetic mother. ( 23276570 )
2012
14
EEG findings in an adult with severe case of alobar holoprosencephaly. ( 21763157 )
2011
15
Prenatal diagnosis of alobar holoprosencephaly, cyclopia, proboscis, and isochromosome 18q in the second trimester. ( 23705090 )
2011
16
Alobar holoprosencephaly associated with cebocephaly and craniosynostosis. ( 19673365 )
2009
17
Prenatal diagnosis of alobar holoprosencephaly, by use of ultrasound and magnetic resonance imaging in the second trimester. ( 19916719 )
2009
18
Alobar holoprosencephaly. ( 19534249 )
2009
19
First trimester three-dimensional transvaginal imaging of alobar holoprosencephaly associated with proboscis and hypotelorism (ethmocephaly) in a 46,XX fetus. ( 18230123 )
2008
20
Alobar holoprosencephaly. ( 19203004 )
2008
21
Prenatal visualization of cebocephaly with a prominent nose in a second-trimester fetus with alobar holoprosencephaly and trisomy 13. ( 18400592 )
2008
22
Unusual occurrence of cystic fibrosis and alobar holoprosencephaly. ( 21063314 )
2008
23
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
24
Prenatal diagnosis of alobar holoprosencephaly with cystic hygroma. ( 17197356 )
2006
25
Three-dimensional first-trimester transvaginal diagnosis of alobar holoprosencephaly associated with omphalocele in a 46,XX fetus. ( 16450277 )
2006
26
SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor. ( 15942952 )
2005
27
Prenatal diagnosis of concomitant alobar holoprosencephaly and caudal regression syndrome associated with maternal diabetes. ( 15791681 )
2005
28
Neuropathological evaluation of the diencephalon, basal ganglia and upper brainstem in alobar holoprosencephaly. ( 14685895 )
2004
29
Perinatal identification of caudal regression syndrome and alobar holoprosencephaly in pregnancies with poor maternal metabolic control. ( 15658628 )
2004
30
Alobar holoprosencephaly: report of two cases with unusual findings. ( 14651170 )
2003
31
Prenatal diagnosis of iniencephaly and alobar holoprosencephaly with trisomy 13 mosaicism: a case report. ( 12478643 )
2002
32
Autosomal recessive alobar holoprosencephaly with essentially normal faces. ( 12239716 )
2002
33
Prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis. ( 11360273 )
2001
34
Prolonged survival and childhood-onset epilepsy in alobar holoprosencephaly. ( 10855513 )
2000
35
Prenatal diagnosis of alobar holoprosencephaly by two-dimensional and three-dimensional ultrasound. ( 10820408 )
2000
36
Alobar holoprosencephaly. ( 11070439 )
2000
37
Alobar holoprosencephaly at 9 weeks gestational age visualized by two- and three-dimensional ultrasound. ( 10776015 )
2000
38
Unusually prolonged survival and childhood-onset epilepsy in a case of alobar holoprosencephaly. ( 10392502 )
1999
39
Prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia. ( 10521829 )
1999
40
Prenatal diagnosis of alobar holoprosencephaly at 10 weeks of gestation. ( 10380303 )
1999
41
Histological findings in a case of alobar holoprosencephaly diagnosed at 10 weeks of pregnancy. ( 10521846 )
1999
42
Prenatal diagnosis of de novo isochromosome 13q associated with microcephaly, alobar holoprosencephaly and cebocephaly in a fetus. ( 9602489 )
1998
43
Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth. ( 9132501 )
1997
44
Alobar holoprosencephaly with diabetes insipidus and neuronal migration disorder. ( 8534287 )
1995
45
Distribution of leptomeningeal glioneuronal heterotopia in alobar holoprosencephaly. ( 8080397 )
1994
46
Autosomal recessive alobar holoprosencephaly with cyclops in three female sibs: prenatal ultrasonographic diagnosis at 18th week. ( 8281281 )
1993
47
Radiologic-pathologic correlation. Alobar holoprosencephaly. ( 8237694 )
1993
48
Early transvaginal sonographic diagnosis of alobar holoprosencephaly. ( 1754562 )
1991
49
Alobar holoprosencephaly, diabetes insipidus and coloboma without craniofacial abnormalities: a case report. ( 2373111 )
1990
50
Histopathological study of alobar holoprosencephaly. 1. Abnormal laminar architecture of the telencephalic cortex. ( 2750487 )
1989

Variations for Alobar Holoprosencephaly

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 14)
id Super pathways Score Top Affiliating Genes
1 12.43 FGF8 GLI2 PTCH1 SHH
2
Show member pathways
12.34 CDON GAS1 GLI2 PTCH1 SHH
3
Show member pathways
12.22 DLL1 FGF8 FOXH1 GLI2 NODAL ZIC2
4 11.98 DLL1 GLI2 PTCH1 SHH TDGF1
5
Show member pathways
11.74 CDON DISP1 GAS1 GLI2 PTCH1 SHH
6
Show member pathways
11.37 FOXH1 NODAL TDGF1
7 11.33 FGF8 NODAL SHH
8 11.3 FGF8 FOXH1 SHH
9 11.2 GLI2 PTCH1 SHH
10 11.02 FGF8 GLI2 SHH
11 10.57 DLL1 FGF8
12
Show member pathways
10.5 CDON GAS1 GLI2 PTCH1 SHH
13 10.41 PTCH1 SHH
14 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 67)
id 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 9.91 FGF8 GLI2 NODAL SHH TDGF1
4 kidney development GO:0001822 9.87 FGF8 GLI2 SHH
5 lung development GO:0030324 9.84 FGF8 GLI2 NODAL SHH
6 negative regulation of cell differentiation GO:0045596 9.83 DLL1 NODAL SHH
7 branching involved in ureteric bud morphogenesis GO:0001658 9.79 FGF8 PTCH1 SHH
8 mammary gland development GO:0030879 9.76 GLI2 PTCH1 TDGF1
9 developmental growth GO:0048589 9.75 GAS1 GLI2 SHH
10 pituitary gland development GO:0021983 9.74 GLI2 SIX3
11 branching involved in blood vessel morphogenesis GO:0001569 9.74 FGF8 SHH
12 embryonic hindlimb morphogenesis GO:0035116 9.74 FGF8 SHH
13 embryonic pattern specification GO:0009880 9.74 DISP1 NODAL SHH
14 branching morphogenesis of an epithelial tube GO:0048754 9.73 GLI2 SHH
15 telencephalon development GO:0021537 9.73 FGF8 SIX3
16 thyroid gland development GO:0030878 9.73 FGF8 SHH
17 vasculature development GO:0001944 9.73 NODAL SHH
18 dopaminergic neuron differentiation GO:0071542 9.73 FGF8 SHH
19 limb morphogenesis GO:0035108 9.73 FGF8 PTCH1
20 cell fate commitment GO:0045165 9.73 FGF8 GAS1 NODAL SHH
21 proximal/distal pattern formation GO:0009954 9.72 DLL1 GLI2
22 hindbrain development GO:0030902 9.72 GLI2 SHH
23 renal system development GO:0072001 9.72 PTCH1 SHH
24 lung morphogenesis GO:0060425 9.72 FGF8 SHH
25 embryonic heart tube development GO:0035050 9.72 FGF8 NODAL
26 regulation of smoothened signaling pathway GO:0008589 9.72 GAS1 GLI2 PTCH1
27 male genitalia development GO:0030539 9.71 FGF8 SHH
28 pharyngeal system development GO:0060037 9.71 FGF8 PTCH1
29 cell fate determination GO:0001709 9.71 DLL1 PTCH1
30 osteoblast development GO:0002076 9.71 GLI2 SHH
31 cell fate specification GO:0001708 9.71 CDON SHH
32 pattern specification process GO:0007389 9.71 DISP1 GLI2 PTCH1 SHH
33 somite development GO:0061053 9.7 PTCH1 SHH
34 anatomical structure development GO:0048856 9.7 GLI2 SHH
35 embryonic morphogenesis GO:0048598 9.7 CDON SHH
36 digestive tract morphogenesis GO:0048546 9.7 NODAL SHH
37 spinal cord motor neuron differentiation GO:0021522 9.7 GLI2 PTCH1 SHH
38 aorta morphogenesis GO:0035909 9.69 FGF8 FOXH1
39 striated muscle cell differentiation GO:0051146 9.69 CDON SHH
40 negative regulation of androgen receptor signaling pathway GO:0060766 9.68 FOXH1 NODAL
41 branching involved in salivary gland morphogenesis GO:0060445 9.68 FGF8 SHH
42 cell proliferation in forebrain GO:0021846 9.68 FGF8 SIX3
43 positive regulation of T cell differentiation in thymus GO:0033089 9.67 GLI2 SHH
44 positive regulation of skeletal muscle tissue development GO:0048643 9.67 CDON SHH
45 anatomical structure formation involved in morphogenesis GO:0048646 9.67 GLI2 NODAL SHH
46 dorsal/ventral pattern formation GO:0009953 9.67 DISP1 GLI2 PTCH1 SHH
47 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.65 GLI2 PTCH1
48 forebrain dorsal/ventral pattern formation GO:0021798 9.65 FGF8 SIX3
49 telencephalon regionalization GO:0021978 9.65 SHH SIX3
50 anterior/posterior pattern specification GO:0009952 9.65 CDON FOXH1 GLI2 NODAL SHH

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

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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