HPE1
MCID: HLP023
MIFTS: 56

Holoprosencephaly 1 (HPE1)

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

Aliases & Classifications for Holoprosencephaly 1

MalaCards integrated aliases for Holoprosencephaly 1:

Name: Holoprosencephaly 1 57 12 29 6 15
Arhinencephaly 57 6 39 71 32
Cyclopia 57 54
Hpe1 57 12
Holoprosencephaly, Familial Alobar 57
Hpe, Familial; Hpec 57
Holoprosencephaly-1 13
Demyer Sequence 57
Hpe, Familial 57
Hpec 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
incomplete penetrance
variable severity
genetic heterogeneity
spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain

Inheritance:
autosomal dominant
isolated cases



Classifications:



Summaries for Holoprosencephaly 1

OMIM® : 57 Holoprosencephaly (HPE) is the most common structural malformation of the human forebrain and occurs after failed or abbreviated midline cleavage of the developing brain during the third and fourth weeks of gestation. HPE occurs in up to 1 in 250 gestations, but only 1 in 8,000 live births (Lacbawan et al., 2009). Classically, 3 degrees of severity defined by the extent of brain malformation have been described. In the most severe form, 'alobar HPE,' there is a single ventricle and no interhemispheric fissure. The olfactory bulbs and tracts and the corpus callosum are typically absent. In 'semilobar HPE,' the most common type of HPE in neonates who survive, there is partial cortical separation with rudimentary cerebral hemispheres and a single ventricle. In 'lobar HPE,' the ventricles are separated, but there is incomplete frontal cortical separation (Corsello et al., 1990). An additional milder form, called 'middle interhemispheric variant' (MIHV) has also been delineated, in which the posterior frontal and parietal lobes are incompletely separated and the corpus callosum may be hypoplastic (Lacbawan et al., 2009). Finally, microforms of HPE include a single maxillary median incisor or hypotelorism without the typical brain malformations (summary by Mercier et al., 2011). Cohen (2001) discussed problems in the definition of holoprosencephaly, which can be viewed from 2 different perspectives: anatomic (fixed) and genetic (broad). When the main interest is description, the anatomic perspective is appropriate. In genetic perspective, a fixed definition of holoprosencephaly is not appropriate because the same mutational cause may result in either holoprosencephaly or some microform of holoprosencephaly. Cohen (2001) concluded that both fixed and broad definitions are equally valid and depend on context. Munke (1989) provided an extensive review of the etiology and pathogenesis of holoprosencephaly, emphasizing heterogeneity. See also schizencephaly (269160), which may be part of the phenotypic spectrum of HPE. (236100) (Updated 05-Mar-2021)

MalaCards based summary : Holoprosencephaly 1, also known as arhinencephaly, is related to hartsfield syndrome and charge syndrome. An important gene associated with Holoprosencephaly 1 is FGF8 (Fibroblast Growth Factor 8), and among its related pathways/superpathways are Signaling by Hedgehog and Mesodermal Commitment Pathway. The drugs Doxorubicin and Cisplatin have been mentioned in the context of this disorder. Affiliated tissues include brain, pituitary and eye, and related phenotypes are intellectual disability and agenesis of corpus callosum

Disease Ontology : 12 A holoprosencephaly that has material basis in variation in the chromosome region 21q22.3.

Related Diseases for Holoprosencephaly 1

Diseases in the Holoprosencephaly family:

Holoprosencephaly 3 Holoprosencephaly 4
Holoprosencephaly 2 Holoprosencephaly 1
Holoprosencephaly 6 Holoprosencephaly 8
Holoprosencephaly 5 Holoprosencephaly 7
Holoprosencephaly 9 Holoprosencephaly 11
Nonsyndromic Holoprosencephaly

Diseases related to Holoprosencephaly 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 161)
# Related Disease Score Top Affiliating Genes
1 hartsfield syndrome 31.7 FGFR1 FGF8
2 charge syndrome 31.4 SHH FGFR1 FGF8
3 holoprosencephaly 9 30.9 ZIC2 SIX3 SHH GLI2 CDON
4 chromosome 18p deletion syndrome 30.0 ZIC2 SIX3
5 choanal atresia, posterior 29.8 FGFR1 FGF8
6 chromosome 2q35 duplication syndrome 29.7 SHH GLI2 FGFR1 FGF8
7 patau syndrome 29.7 ZIC2 SIX3 SHH
8 cleft palate, isolated 29.5 SHH GLI2 FGFR1 FGF8
9 holoprosencephaly 2 29.4 ZIC2 SIX3 SHH GLI2
10 holoprosencephaly 3 29.4 ZIC2 SIX3 SHH GLI2
11 coloboma of macula 29.2 ZIC2 SIX3 SHH FGFR1 FGF8 CDON
12 microcephaly 28.9 ZIC2 SHH MATN4 GLI2 FGF8 CDON
13 alobar holoprosencephaly 28.8 ZIC2 SIX3 SHH GLI2 GAS1 FGF8
14 lobar holoprosencephaly 28.5 ZIC2 SIX3 SHH GLI2 GAS1 FGFR1
15 semilobar holoprosencephaly 28.5 ZIC2 SIX3 SHH GLI2 GAS1 FGFR1
16 holoprosencephaly 26.7 ZRSR2 ZIC2 TRAPPC10 SIX3 SHH MATN4
17 isolated arhinencephaly 11.0
18 iniencephaly 10.9
19 holoprosencephaly 13, x-linked 10.9
20 holoprosencephaly 12 with or without pancreatic agenesis 10.9
21 aprosencephaly syndrome 10.9
22 nonsyndromic holoprosencephaly 10.9
23 congenital hypogonadotropic hypogonadism 10.3 FGFR1 FGF8
24 holoprosencephaly 8 10.2 ZIC2 CDON
25 holoprosencephaly, recurrent infections, and monocytosis 10.2 SIX3 GLI2
26 central nervous system lipoma 10.2 ZIC2 SIX3
27 tooth size 10.2 SHH FGF8
28 melanotic medulloblastoma 10.2 SHH GLI2
29 deafness, autosomal recessive 71 10.2 FGFR1 FGF8
30 megaesophagus 10.1 FGFR1 CDON
31 nodular medulloblastoma 10.1 SHH GLI2
32 polydactyly 10.1
33 muenke syndrome 10.1 FGFR1 FGF8
34 adult medulloblastoma 10.1 SHH GLI2
35 chromosomal triplication 10.1
36 anencephaly 10.1
37 sirenomelia 10.1
38 triploidy 10.1
39 anus, imperforate 10.1 SHH GLI2 FGF8
40 apert syndrome 10.0 SHH FGFR1 FGF8
41 crouzon syndrome 10.0 SHH FGFR1 FGF8
42 bone development disease 10.0 SHH FGFR1 FGF8
43 orofaciodigital syndrome viii 10.0 ZIC2 SIX3
44 neural tube defects 10.0
45 hydrocephalus 10.0
46 cleft lip 10.0
47 cleft lip/palate 10.0
48 irritable bowel syndrome 10.0
49 synostosis 10.0 SHH FGFR1 FGF8
50 renal hypodysplasia/aplasia 1 9.9 SHH FGFR1 FGF8

Graphical network of the top 20 diseases related to Holoprosencephaly 1:



Diseases related to Holoprosencephaly 1

Symptoms & Phenotypes for Holoprosencephaly 1

Human phenotypes related to Holoprosencephaly 1:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 agenesis of corpus callosum 31 HP:0001274
3 global developmental delay 31 HP:0001263
4 microcephaly 31 HP:0000252
5 short stature 31 HP:0004322
6 hypoglycemia 31 HP:0001943
7 diabetes insipidus 31 HP:0000873
8 micropenis 31 HP:0000054
9 microphthalmia 31 HP:0000568
10 hypotelorism 31 HP:0000601
11 midface retrusion 31 HP:0011800
12 cerebellar hypoplasia 31 HP:0001321
13 facial cleft 31 HP:0002006
14 median cleft lip and palate 31 HP:0008501
15 cyclopia 31 HP:0009914
16 generalized hypotonia 31 HP:0001290
17 adrenal hypoplasia 31 HP:0000835
18 aplasia of the nose 31 HP:0009927
19 single ventricle 31 HP:0001750
20 proboscis 31 HP:0012806
21 seizure 31 HP:0001250
22 alobar holoprosencephaly 31 HP:0006988
23 ethmocephaly 31 HP:0030779

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
cerebellar hypoplasia
hypotonia
developmental delay
agenesis of the corpus callosum
more
Growth Height:
short stature

Head And Neck Eyes:
microphthalmia
cyclopia
ocular hypotelorism
colobomata
varying degrees of doubling of intrinsic ocular structures

Head And Neck Nose:
arrhinia
blind-ending proboscis
agenesis of nasal bones

Head And Neck Teeth:
central incisor

Head And Neck Head:
microcephaly
ethmocephaly
cebocephaly

Endocrine Features:
diabetes insipidus
endocrine dysgenesis
pituitary agenesis
hypophyseal agenesis
hypothalamic dysfunction
more
Head And Neck Face:
facial cleft
midface hypoplasia
premaxillary agenesis

Head And Neck Mouth:
median cleft lip/palate

Clinical features from OMIM®:

236100 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Holoprosencephaly 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.09 CDON FGF8 FGFR1 GAS1 GLI2 SHH
2 digestive/alimentary MP:0005381 10.01 CDON FGF8 FGFR1 GLI2 SHH SIX3
3 embryo MP:0005380 9.97 CDON FGF8 FGFR1 GAS1 GLI2 SHH
4 nervous system MP:0003631 9.91 CDON FGF8 FGFR1 GAS1 GLI2 SHH
5 limbs/digits/tail MP:0005371 9.87 CDON FGF8 FGFR1 GAS1 GLI2 SHH
6 respiratory system MP:0005388 9.7 CDON FGF8 GAS1 GLI2 SHH SIX3
7 skeleton MP:0005390 9.61 CDON FGF8 FGFR1 GAS1 GLI2 SHH
8 vision/eye MP:0005391 9.36 CDON FGF8 FGFR1 GAS1 GLI2 LSS

Drugs & Therapeutics for Holoprosencephaly 1

Drugs for Holoprosencephaly 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
2
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
3
Liposomal doxorubicin Phase 2 31703

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hyperthermic Intraperitoneal Chemotherapy in Ovarian Carcinoma Clinical Stage IIIC and IV During Interval Laparotomy. Phase II Study Recruiting NCT03275194 Phase 2

Search NIH Clinical Center for Holoprosencephaly 1

Genetic Tests for Holoprosencephaly 1

Genetic tests related to Holoprosencephaly 1:

# Genetic test Affiliating Genes
1 Holoprosencephaly 1 29

Anatomical Context for Holoprosencephaly 1

MalaCards organs/tissues related to Holoprosencephaly 1:

40
Brain, Pituitary, Eye, Cortex, Heart, Tongue

Publications for Holoprosencephaly 1

Articles related to Holoprosencephaly 1:

(show top 50) (show all 160)
# Title Authors PMID Year
1
FAMILIAL ALOBAR HOLOPROSENCEPHALY (ARHINENCEPHALY) WITH MEDIAN CLEFT LIP AND PALATE. REPORT OF PATIENT WITH 46 CHROMOSOMES. 57 61
14079950 1963
2
Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research. 57
22006661 2011
3
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum. 57
21976454 2011
4
New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases. 57
21940735 2011
5
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. 57
19346217 2009
6
Mesiodens, a new microform of holoprosencephaly? 57
19161155 2009
7
Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog. 57
17525797 2007
8
Factor analysis of neuroanatomical and clinical characteristics of holoprosencephaly. 57
16503393 2006
9
The cyclopes in Odysseus' Apologos. 57
16145687 2005
10
Phenotypic and molecular variability of the holoprosencephalic spectrum. 57
15266610 2004
11
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. 57
15221788 2004
12
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. 57
12395298 2002
13
Autosomal recessive alobar holoprosencephaly with essentially normal faces. 57
12239716 2002
14
Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases. 57
11851965 2002
15
Problems in the definition of holoprosencephaly. 57
11745988 2001
16
Mutations in holoprosencephaly. 57
10923031 2000
17
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. 57
10556296 1999
18
Holoprosencephaly: a paradigm for the complex genetics of brain development. 57
9728329 1998
19
Segregation analysis in nonsyndromic holoprosencephaly. 57
9605287 1998
20
Physical mapping of the holoprosencephaly critical region in 18p11.3. 57
7485158 1995
21
Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome. 57
7485157 1995
22
Holoprosencephaly: a family showing dominant inheritance and variable expression. 57
8423605 1993
23
Holoprosencephaly: examples of clinical variability and etiologic heterogeneity. 57
2147361 1990
24
Holoprosencephaly in an infant with a minute deletion of chromosome 21(q22.3). 57
2363428 1990
25
Chromosome 7 abnormalities in parents of children with holoprosencephaly and hydronephrosis. 57
2309771 1990
26
Clinical, cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephaly. 57
2683787 1989
27
Holoprosencephaly: variation of expression in face and brain in three sibs. 57
2751762 1989
28
Autosomal dominant inheritance of the DeMyer Sequence. 57
3209682 1988
29
Cyclopia and congenital cytomegalovirus infection. 57
2823607 1987
30
Holoprosencephaly in infants of diabetic mothers. 57
6834191 1983
31
[Familial occurrence of cyclops over several generations]. 57
6820862 1982
32
Holoprosencephaly in monozygotic twins - clinical and computer tomographic findings. 57
7195648 1981
33
Holoprosencephaly and endocrine dysgenesis in brothers. 57
7193414 1980
34
Genetic heterogeneity of cebocephaly. 57
4837285 1974
35
Letter: Hypothalamo-pituitary dysfunction in siblings of patients with holoprosencephaly. 57
4757527 1973
36
Familial cebocephaly. Case description and survey of the anomaly. 57
5454670 1970
37
Familial holoprosencephaly. 57
5309311 1970
38
Cyclopism as a hereditary malformation. 57
5647374 1968
39
Familial holoprosencephaly with endocrine dysgenesis. 57
4294576 1968
40
[Familial incidence of malformations of the arhinencephalia group]. 57
13723646 1961
41
[Familial findings in lethal anomalies of the human body]. 57
13113863 1954
42
De novo ZIC2 frameshift variant associated with frontonasal dysplasia in a Limousin calf. 61
33388042 2021
43
Fetal MRI findings in a retrospective cohort of 26 cases of prenatally diagnosed CHARGE syndrome individuals. 61
30715739 2019
44
Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses. 61
30328679 2018
45
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. 61
29178447 2017
46
A Possible Link Between Pyriproxyfen and Microcephaly. 61
29362686 2017
47
Brain size regulations by cbp haploinsufficiency evaluated by in-vivo MRI based volumetry. 61
26543002 2015
48
Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation. 61
24975584 2014
49
Is fetal cerebral MRI worthwhile in antenatally diagnosed isolated cleft lip with or without palate? 61
23355017 2013
50
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. 61
23024289 2012

Variations for Holoprosencephaly 1

ClinVar genetic disease variations for Holoprosencephaly 1:

6 (show top 50) (show all 251)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FGFR1 NM_023110.2(FGFR1):c.880G>A (p.Glu294Lys) SNV Pathogenic 517665 rs528376963 8:38282083-38282083 8:38424565-38424565
2 FGF8 NM_033164.4(FGF8):c.526_540del (p.Arg176_Gly180del) Deletion Pathogenic 545457 rs1554834321 10:103530248-103530262 10:101770491-101770505
3 FGF8 NM_033164.4(FGF8):c.365C>T (p.Thr122Met) SNV Likely pathogenic 545458 rs61730334 10:103531266-103531266 10:101771509-101771509
4 FGF8 NM_033163.4(FGF8):c.157G>C (p.Val53Leu) SNV Likely pathogenic 545459 rs1554834889 10:103534669-103534669 10:101774912-101774912
5 FGF8 NM_033163.4(FGF8):c.157-1G>A SNV Likely pathogenic 545413 rs1554834892 10:103534670-103534670 10:101774913-101774913
6 FGF8 NM_033164.4(FGF8):c.436G>T (p.Val146Phe) SNV Likely pathogenic 545456 rs139565972 10:103530352-103530352 10:101770595-101770595
7 FGF8 NM_033164.4(FGF8):c.411+1G>A SNV Likely pathogenic 545517 rs1490604080 10:103531219-103531219 10:101771462-101771462
8 FGF8 NM_033163.4(FGF8):c.356C>T (p.Thr119Met) SNV Likely pathogenic 235081 rs876661329 10:103531308-103531308 10:101771551-101771551
9 ZIC2 NM_007129.5(ZIC2):c.1225C>T (p.Arg409Trp) SNV Likely pathogenic 635857 rs1594291868 13:100637349-100637349 13:99985095-99985095
10 ZIC2 NM_007129.5(ZIC2):c.*954T>A SNV Likely pathogenic 689364 rs760662121 13:100638890-100638890 13:99986636-99986636
11 ZRSR2 NM_005089.4(ZRSR2):c.1207_1208del (p.Arg403fs) Deletion Likely pathogenic 978620 X:15841123-15841124 X:15823000-15823001
12 FGF8 NM_033163.4(FGF8):c.385C>T (p.Arg129Ter) SNV Likely pathogenic 235082 rs876661330 10:103531279-103531279 10:101771522-101771522
13 FGF8 NM_033163.4(FGF8):c.617G>A (p.Arg206Gln) SNV Likely pathogenic 235083 rs876661331 10:103530204-103530204 10:101770447-101770447
14 FGFR1 NM_023110.2(FGFR1):c.2074G>A (p.Glu692Lys) SNV Likely pathogenic 235088 rs876661335 8:38271782-38271782 8:38414264-38414264
15 MATN4 NM_003833.4(MATN4):c.515G>C (p.Gly172Ala) SNV Likely pathogenic 183295 rs730882210 20:43932996-43932996 20:45304356-45304356
16 CNOT1 NM_016284.5(CNOT1):c.1603C>T (p.Arg535Cys) SNV Conflicting interpretations of pathogenicity 619606 rs1567417422 16:58610468-58610468 16:58576564-58576564
17 FOXH1 NM_003923.3(FOXH1):c.700C>T (p.Gln234Ter) SNV Uncertain significance 632518 rs1564751909 8:145700019-145700019 8:144474636-144474636
18 FOXH1 NM_003923.3(FOXH1):c.386G>A (p.Arg129Gln) SNV Uncertain significance 577331 rs149905713 8:145700333-145700333 8:144474950-144474950
19 FOXH1 NM_003923.3(FOXH1):c.1004C>T (p.Pro335Leu) SNV Uncertain significance 664380 rs1421316442 8:145699715-145699715 8:144474332-144474332
20 GLI2 NM_001374353.1(GLI2):c.2108G>A (p.Arg703His) SNV Uncertain significance 259723 rs149091975 2:121744056-121744056 2:120986480-120986480
21 FGF8 NM_006119.5(FGF8):c.599C>T (p.Thr200Met) SNV Uncertain significance 9126 rs137852664 10:103530135-103530135 10:101770378-101770378
22 FOXH1 NM_003923.3(FOXH1):c.746C>T (p.Ala249Val) SNV Uncertain significance 571322 rs1564751833 8:145699973-145699973 8:144474590-144474590
23 FOXH1 NM_003923.3(FOXH1):c.974G>A (p.Cys325Tyr) SNV Uncertain significance 572194 rs770253235 8:145699745-145699745 8:144474362-144474362
24 SHH NM_000193.4(SHH):c.468C>A (p.Ser156Arg) SNV Uncertain significance 545462 rs1554494372 7:155599084-155599084 7:155806390-155806390
25 FGF8 NM_033164.4(FGF8):c.86_103dup (p.Gly29_Arg34dup) Duplication Uncertain significance 545463 rs762175290 10:103534939-103534940 10:101775182-101775183
26 FGF8 NM_033164.4(FGF8):c.464A>G (p.Asn155Ser) SNV Uncertain significance 545460 rs778082287 10:103530324-103530324 10:101770567-101770567
27 BOC NM_033254.4(BOC):c.1667G>A (p.Gly556Glu) SNV Uncertain significance 523664 rs1553745274 3:112997069-112997069 3:113278222-113278222
28 FOXH1 NM_003923.3(FOXH1):c.58C>T (p.Pro20Ser) SNV Uncertain significance 528229 rs778783647 8:145701082-145701082 8:144475699-144475699
29 NODAL NM_018055.5(NODAL):c.702G>A (p.Arg234=) SNV Uncertain significance 877822 10:72195231-72195231 10:70435475-70435475
30 NODAL NM_018055.5(NODAL):c.670G>A (p.Glu224Lys) SNV Uncertain significance 877823 10:72195263-72195263 10:70435507-70435507
31 NODAL NM_018055.5(NODAL):c.555C>A (p.Pro185=) SNV Uncertain significance 877985 10:72195378-72195378 10:70435622-70435622
32 NODAL NM_018055.5(NODAL):c.*360A>G SNV Uncertain significance 878801 10:72192332-72192332 10:70432576-70432576
33 NODAL NM_018055.5(NODAL):c.*829T>G SNV Uncertain significance 879350 10:72191863-72191863 10:70432107-70432107
34 NODAL NM_018055.5(NODAL):c.*820G>C SNV Uncertain significance 879351 10:72191872-72191872 10:70432116-70432116
35 NODAL NM_018055.5(NODAL):c.*329A>C SNV Uncertain significance 878802 10:72192363-72192363 10:70432607-70432607
36 NODAL NM_018055.5(NODAL):c.*328G>A SNV Uncertain significance 879386 10:72192364-72192364 10:70432608-70432608
37 NODAL NM_018055.5(NODAL):c.*125A>C SNV Uncertain significance 879387 10:72192567-72192567 10:70432811-70432811
38 NODAL NM_018055.5(NODAL):c.512A>T (p.Lys171Met) SNV Uncertain significance 879450 10:72195421-72195421 10:70435665-70435665
39 NODAL NM_018055.5(NODAL):c.*729A>G SNV Uncertain significance 879713 10:72191963-72191963 10:70432207-70432207
40 NODAL NM_018055.5(NODAL):c.972G>A (p.Leu324=) SNV Uncertain significance 697481 rs143903715 10:72192764-72192764 10:70433008-70433008
41 NODAL NM_018055.5(NODAL):c.819C>G (p.Ala273=) SNV Uncertain significance 877821 10:72195114-72195114 10:70435358-70435358
42 NODAL NM_018055.5(NODAL):c.467C>T (p.Thr156Ile) SNV Uncertain significance 879451 10:72195466-72195466 10:70435710-70435710
43 FOXH1 NM_003923.3(FOXH1):c.478C>G (p.Pro160Ala) SNV Uncertain significance 908088 8:145700241-145700241 8:144474858-144474858
44 FOXH1 NM_003923.3(FOXH1):c.406G>T (p.Ala136Ser) SNV Uncertain significance 908089 8:145700313-145700313 8:144474930-144474930
45 FOXH1 NC_000008.11:g.144476283G>A SNV Uncertain significance 908151 8:145701666-145701666 8:144476283-144476283
46 FOXH1 NC_000008.11:g.144476299G>A SNV Uncertain significance 908152 8:145701682-145701682 8:144476299-144476299
47 FOXH1 NM_003923.3(FOXH1):c.*436G>A SNV Uncertain significance 909137 8:145699185-145699185 8:144473802-144473802
48 FOXH1 NM_003923.3(FOXH1):c.*430G>A SNV Uncertain significance 909138 8:145699191-145699191 8:144473808-144473808
49 FOXH1 NM_003923.3(FOXH1):c.*423G>A SNV Uncertain significance 909979 8:145699198-145699198 8:144473815-144473815
50 FOXH1 NM_003923.3(FOXH1):c.*382C>T SNV Uncertain significance 909980 8:145699239-145699239 8:144473856-144473856

Expression for Holoprosencephaly 1

Search GEO for disease gene expression data for Holoprosencephaly 1.

Pathways for Holoprosencephaly 1

GO Terms for Holoprosencephaly 1

Biological processes related to Holoprosencephaly 1 according to GeneCards Suite gene sharing:

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.06 ZIC2 SIX3 SHH GLI2 FGFR1 FGF8
2 kidney development GO:0001822 9.82 SHH GLI2 FGF8
3 anterior/posterior pattern specification GO:0009952 9.77 SHH GLI2 CDON
4 positive regulation of neuron differentiation GO:0045666 9.74 GLI2 FGFR1 CDON
5 lung development GO:0030324 9.73 SHH GLI2 FGF8
6 branching involved in blood vessel morphogenesis GO:0001569 9.67 SHH FGF8
7 pituitary gland development GO:0021983 9.67 SIX3 GLI2
8 embryonic hindlimb morphogenesis GO:0035116 9.67 SHH FGF8
9 cell fate commitment GO:0045165 9.67 SHH GAS1 FGF8
10 hair follicle morphogenesis GO:0031069 9.66 SHH GLI2
11 telencephalon development GO:0021537 9.66 SIX3 FGF8
12 branching morphogenesis of an epithelial tube GO:0048754 9.65 SHH GLI2
13 dopaminergic neuron differentiation GO:0071542 9.65 SHH FGF8
14 thyroid gland development GO:0030878 9.65 SHH FGF8
15 smoothened signaling pathway GO:0007224 9.65 SHH GLI2 CDON
16 lung morphogenesis GO:0060425 9.64 SHH FGF8
17 embryonic morphogenesis GO:0048598 9.63 SHH CDON
18 spinal cord motor neuron differentiation GO:0021522 9.63 SHH GLI2
19 striated muscle cell differentiation GO:0051146 9.62 SHH CDON
20 hindbrain development GO:0030902 9.62 SHH GLI2
21 anatomical structure formation involved in morphogenesis GO:0048646 9.61 SHH GLI2
22 male genitalia development GO:0030539 9.61 SHH FGF8
23 osteoblast development GO:0002076 9.6 SHH GLI2
24 dorsal/ventral neural tube patterning GO:0021904 9.58 SHH GLI2
25 branching involved in salivary gland morphogenesis GO:0060445 9.55 SHH FGF8
26 cell proliferation in forebrain GO:0021846 9.54 SIX3 FGF8
27 positive regulation of T cell differentiation in thymus GO:0033089 9.52 SHH GLI2
28 positive regulation of skeletal muscle tissue development GO:0048643 9.51 SHH CDON
29 telencephalon regionalization GO:0021978 9.46 SIX3 SHH
30 forebrain dorsal/ventral pattern formation GO:0021798 9.43 SIX3 FGF8
31 positive regulation of cell differentiation GO:0045597 9.43 SHH FGFR1 FGF8
32 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.4 SHH GLI2
33 spinal cord dorsal/ventral patterning GO:0021513 9.37 SHH GLI2
34 dorsal/ventral pattern formation GO:0009953 9.33 SHH GLI2 FGF8
35 hindgut morphogenesis GO:0007442 9.32 SHH GLI2
36 ventral midline development GO:0007418 8.96 SHH GLI2
37 developmental growth GO:0048589 8.8 SHH GLI2 GAS1

Sources for Holoprosencephaly 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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