MCID: ALB014
MIFTS: 35

Alobar Holoprosencephaly malady

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

Aliases & Classifications for Alobar Holoprosencephaly

Aliases & Descriptions 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 and fga-related congenital afibrinogenemia. 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 47)
id Related Disease Score Top Affiliating Genes
1 holoprosencephaly 10.8
2 fga-related congenital afibrinogenemia 10.2 SHH SIX3
3 anosmia, isolated congenital 10.2 SHH TGIF1
4 3-methylglutaconic aciduria, type i 10.2 NODAL PTCH1
5 camptomelic syndrome long limb type 10.1 GLI2 PTCH1
6 plasmalogens synthesis deficiency isolated 10.1 CDON SHH TGIF1
7 cerebrotendinous xanthomatosis 10.1 PTCH1 SHH
8 cleft lip 10.1
9 cavernous sinus thrombosis 10.1 CDON NODAL
10 colorectal cancer, hereditary nonpolyposis, type 2 10.1 GLI2 PTCH1 SHH
11 horseshoe kidney 10.1 GLI2 PTCH1 SIX3
12 extragonadal germ cell cancer 10.1 GLI2 PTCH1 SHH
13 alpha chain disease 10.1 GLI2 PTCH1 SHH
14 intestinal pseudo-obstruction 10.1 GLI2 PTCH1
15 polydactyly, postaxial, types a1 and b 10.0 GAS1 GLI2 SHH
16 microcephaly 10.0
17 epilepsy 10.0
18 diabetes insipidus 10.0
19 caudal regression syndrome 10.0
20 orchitis 10.0 GLI2 PTCH1 SHH
21 cervical adenitis 10.0 NODAL SIX3
22 nemaline myopathy 11 10.0 CDON DISP1 TGIF1
23 macular degeneration, age-related, 1 10.0 FGF8 GLI2 NODAL SHH
24 hypotrichosis of eyelid 9.9 NODAL SIX3 ZIC2
25 breasts and/or nipples, aplasia or hypoplasia of, 2 9.9 GAS1 GLI2 PTCH1 SHH
26 craniosynostosis 9.9
27 omphalocele 9.9
28 holoprosencephaly 1 9.9
29 polydactyly 9.9
30 gestational diabetes 9.9
31 neuronitis 9.9
32 iniencephaly 9.9
33 sirenomelia 9.9
34 syndrome of inappropriate antidiuretic hormone 9.9
35 neuronal migration disorders 9.9
36 cystic fibrosis 9.9
37 cleft lip/palate 9.9
38 major affective disorder 1 9.9 NODAL SHH SIX3 ZIC2
39 angiodysplasia 9.8 NODAL SHH SIX3 TGIF1 ZIC2
40 fibrous dysplasia 9.7 FGF8 NODAL SHH SIX3 ZIC2
41 hypoplastic left heart syndrome 9.0 CDON FGF8 GAS1 GLI2 NODAL PTCH1
42 glaucoma 1, open angle, f 8.3 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
43 primary oculocerebral lymphoma 8.3 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
44 familial infantile bilateral striatal necrosis 8.3 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
45 late-onset nephronophthisis 8.3 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
46 atypical hemolytic-uremic syndrome with h factor anomaly 8.3 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
47 antenatal bartter syndrome 8.2 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 19)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.39 PTCH1 NODAL SHH TGIF1 ZIC2 TDGF1
2 embryo MP:0005380 10.38 PTCH1 SIX3 NODAL SHH ZIC2 TDGF1
3 growth/size/body region MP:0005378 10.36 PTCH1 NODAL SHH TGIF1 SIX3 ZIC2
4 cellular MP:0005384 10.35 SHH PTCH1 NODAL TGIF1 ZIC2 TDGF1
5 craniofacial MP:0005382 10.34 PTCH1 SIX3 NODAL SHH ZIC2 TGIF1
6 behavior/neurological MP:0005386 10.28 SHH HCRT PTCH1 TGIF1 ZIC2 DLL1
7 mortality/aging MP:0010768 10.28 SHH PTCH1 NODAL TGIF1 SIX3 ZIC2
8 digestive/alimentary MP:0005381 10.25 PTCH1 NODAL SHH SIX3 ZIC2 FGF8
9 nervous system MP:0003631 10.24 PTCH1 NODAL SHH TGIF1 SIX3 ZIC2
10 homeostasis/metabolism MP:0005376 10.22 SHH HCRT PTCH1 NODAL TGIF1 DISP1
11 limbs/digits/tail MP:0005371 10.16 PTCH1 SHH TGIF1 ZIC2 DISP1 FGF8
12 endocrine/exocrine gland MP:0005379 10.07 SHH PTCH1 DISP1 DLL1 FOXH1 GLI2
13 muscle MP:0005369 10.06 SHH PTCH1 NODAL DISP1 DLL1 FOXH1
14 normal MP:0002873 10.06 PTCH1 NODAL SHH TGIF1 ZIC2 TDGF1
15 hearing/vestibular/ear MP:0005377 10.04 SHH TGIF1 DLL1 FOXH1 GLI2 FGF8
16 respiratory system MP:0005388 10.03 PTCH1 NODAL SHH TGIF1 SIX3 DISP1
17 skeleton MP:0005390 9.97 PTCH1 NODAL SHH TGIF1 SIX3 ZIC2
18 vision/eye MP:0005391 9.44 PTCH1 SIX3 NODAL SHH ZIC2 TDGF1
19 taste/olfaction MP:0005394 9.26 SHH NODAL TGIF1 SIX3

Drugs & Therapeutics for Alobar Holoprosencephaly

Interventional clinical trials:


id Name Status NCT ID Phase
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, proboscis and cyclopia in a chromosomally normal fetus: Prenatal diagnosis and fetal outcome. ( 27086438 )
2015
3
Successful management of discordant alobar holoprosencephaly in monochorionic diamniotic twins with normal karyotype: a case report. ( 25864296 )
2015
4
ALOBAR HOLOPROSENCEPHALY, CLEFT LIP/PALATE, URORECTAL SEPTUM MALFORMATION SEQUENCE AND CONGENITAL PERINEAL HERNIA IN A FETUS. ( 26625663 )
2015
5
Antenatal detection of maternal unipartental disomy of chromosome 2 in a fetus with non-chromosomal, non-syndromic alobar holoprosencephaly. ( 24243683 )
2014
6
Alobar holoprosencephaly secondary to CMV infection. ( 25184025 )
2014
7
Cyclopia, proboscis and alobar holoprosencephaly representative for trisomy 13. ( 25365860 )
2014
8
A new case of holoprosencephaly-polydactyly syndrome with alobar holoprosencephaly, preaxial polydactyly and congenital glaucoma. ( 24783655 )
2014
9
Antenatal diagnosis of alobar holoprosencephaly. ( 25126440 )
2014
10
Alobar holoprosencephaly with cyclopia - autopsy-based observations from one medical center. ( 23791929 )
2013
11
Airway management in an infant with alobar holoprosencephaly and cebocephaly associated with maternal diabetes mellitus. ( 23599105 )
2013
12
Syndrome of inappropriate antidiuretic hormone secretion refractory to treatment in a newborn with alobar holoprosencephaly. ( 24341147 )
2013
13
Alobar holoprosencephaly, cebocephaly, and micropenis in a Klinefelter fetus of a diabetic mother. ( 23276570 )
2012
14
Prenatal diagnosis of alobar holoprosencephaly, cyclopia, proboscis, and isochromosome 18q in the second trimester. ( 23705090 )
2011
15
EEG findings in an adult with severe case of alobar holoprosencephaly. ( 21763157 )
2011
16
Prenatal diagnosis of alobar holoprosencephaly, by use of ultrasound and magnetic resonance imaging in the second trimester. ( 19916719 )
2009
17
Alobar holoprosencephaly associated with cebocephaly and craniosynostosis. ( 19673365 )
2009
18
Alobar holoprosencephaly. ( 19534249 )
2009
19
Unusual occurrence of cystic fibrosis and alobar holoprosencephaly. ( 21063314 )
2008
20
First trimester three-dimensional transvaginal imaging of alobar holoprosencephaly associated with proboscis and hypotelorism (ethmocephaly) in a 46,XX fetus. ( 18230123 )
2008
21
Alobar holoprosencephaly. ( 19203004 )
2008
22
Prenatal visualization of cebocephaly with a prominent nose in a second-trimester fetus with alobar holoprosencephaly and trisomy 13. ( 18400592 )
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
Three-dimensional first-trimester transvaginal diagnosis of alobar holoprosencephaly associated with omphalocele in a 46,XX fetus. ( 16450277 )
2006
25
Prenatal diagnosis of alobar holoprosencephaly with cystic hygroma. ( 17197356 )
2006
26
Prenatal diagnosis of concomitant alobar holoprosencephaly and caudal regression syndrome associated with maternal diabetes. ( 15791681 )
2005
27
SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor. ( 15942952 )
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
Autosomal recessive alobar holoprosencephaly with essentially normal faces. ( 12239716 )
2002
32
Prenatal diagnosis of iniencephaly and alobar holoprosencephaly with trisomy 13 mosaicism: a case report. ( 12478643 )
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
Prenatal diagnosis of alobar holoprosencephaly by two-dimensional and three-dimensional ultrasound. ( 10820408 )
2000
35
Alobar holoprosencephaly. ( 11070439 )
2000
36
Prolonged survival and childhood-onset epilepsy in alobar holoprosencephaly. ( 10855513 )
2000
37
Alobar holoprosencephaly at 9 weeks gestational age visualized by two- and three-dimensional ultrasound. ( 10776015 )
2000
38
Histological findings in a case of alobar holoprosencephaly diagnosed at 10 weeks of pregnancy. ( 10521846 )
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
Unusually prolonged survival and childhood-onset epilepsy in a case of alobar holoprosencephaly. ( 10392502 )
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
Radiologic-pathologic correlation. Alobar holoprosencephaly. ( 8237694 )
1993
47
Autosomal recessive alobar holoprosencephaly with cyclops in three female sibs: prenatal ultrasonographic diagnosis at 18th week. ( 8281281 )
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 65)
id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.97 DISP1 DLL1 FGF8 GLI2 NODAL SHH
2 brain development GO:0007420 9.96 NODAL PTCH1 SIX3 ZIC2
3 heart development GO:0007507 9.89 FGF8 GLI2 NODAL SHH TDGF1
4 kidney development GO:0001822 9.86 FGF8 GLI2 SHH
5 lung development GO:0030324 9.83 FGF8 GLI2 NODAL SHH
6 negative regulation of cell differentiation GO:0045596 9.82 DLL1 NODAL SHH
7 branching involved in ureteric bud morphogenesis GO:0001658 9.78 FGF8 PTCH1 SHH
8 mammary gland development GO:0030879 9.75 GLI2 PTCH1 TDGF1
9 branching involved in blood vessel morphogenesis GO:0001569 9.74 FGF8 SHH
10 developmental growth GO:0048589 9.74 GAS1 GLI2 SHH
11 branching morphogenesis of an epithelial tube GO:0048754 9.73 GLI2 SHH
12 embryonic hindlimb morphogenesis GO:0035116 9.73 FGF8 SHH
13 telencephalon development GO:0021537 9.73 FGF8 SIX3
14 thyroid gland development GO:0030878 9.73 FGF8 SHH
15 dopaminergic neuron differentiation GO:0071542 9.73 FGF8 SHH
16 embryonic pattern specification GO:0009880 9.73 DISP1 NODAL SHH
17 cell fate commitment GO:0045165 9.73 FGF8 GAS1 NODAL SHH
18 limb morphogenesis GO:0035108 9.72 FGF8 PTCH1
19 proximal/distal pattern formation GO:0009954 9.72 DLL1 GLI2
20 renal system development GO:0072001 9.72 PTCH1 SHH
21 hindbrain development GO:0030902 9.72 GLI2 SHH
22 vasculature development GO:0001944 9.72 NODAL SHH
23 lung morphogenesis GO:0060425 9.71 FGF8 SHH
24 male genitalia development GO:0030539 9.71 FGF8 SHH
25 embryonic heart tube development GO:0035050 9.71 FGF8 NODAL
26 cell fate determination GO:0001709 9.71 DLL1 PTCH1
27 pharyngeal system development GO:0060037 9.71 FGF8 PTCH1
28 regulation of smoothened signaling pathway GO:0008589 9.71 GAS1 GLI2 PTCH1
29 pattern specification process GO:0007389 9.71 DISP1 GLI2 PTCH1 SHH
30 osteoblast development GO:0002076 9.7 GLI2 SHH
31 somite development GO:0061053 9.7 PTCH1 SHH
32 anatomical structure development GO:0048856 9.7 GLI2 SHH
33 embryonic morphogenesis GO:0048598 9.7 CDON SHH
34 digestive tract morphogenesis GO:0048546 9.69 NODAL SHH
35 cell fate specification GO:0001708 9.69 CDON SHH
36 spinal cord motor neuron differentiation GO:0021522 9.69 GLI2 PTCH1 SHH
37 cell proliferation in forebrain GO:0021846 9.68 FGF8 SIX3
38 aorta morphogenesis GO:0035909 9.68 FGF8 FOXH1
39 striated muscle cell differentiation GO:0051146 9.68 CDON SHH
40 branching involved in salivary gland morphogenesis GO:0060445 9.68 FGF8 SHH
41 negative regulation of androgen receptor signaling pathway GO:0060766 9.67 FOXH1 NODAL
42 positive regulation of T cell differentiation in thymus GO:0033089 9.67 GLI2 SHH
43 dorsal/ventral pattern formation GO:0009953 9.67 DISP1 GLI2 PTCH1 SHH
44 positive regulation of skeletal muscle tissue development GO:0048643 9.66 CDON SHH
45 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.65 GLI2 PTCH1
46 forebrain dorsal/ventral pattern formation GO:0021798 9.65 FGF8 SIX3
47 telencephalon regionalization GO:0021978 9.65 SHH SIX3
48 anatomical structure formation involved in morphogenesis GO:0048646 9.65 GLI2 NODAL SHH
49 anterior/posterior pattern specification GO:0009952 9.65 CDON FOXH1 GLI2 NODAL SHH
50 mammary gland duct morphogenesis GO:0060603 9.64 GLI2 PTCH1

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 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding GO:0001205 9.32 FOXH1 SIX3
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
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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