HPE7
MCID: HLP027
MIFTS: 47

Holoprosencephaly 7 (HPE7)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Holoprosencephaly 7

MalaCards integrated aliases for Holoprosencephaly 7:

Name: Holoprosencephaly 7 57 11 73 28 5 43 14 71
Hpe7 57 11 73
Holoprosencephaly-7 73 12
Holoprosencephaly, Type 7 38

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
incomplete penetrance


Classifications:



Summaries for Holoprosencephaly 7

OMIM®: 57 Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100). (610828) (Updated 08-Dec-2022)

MalaCards based summary: Holoprosencephaly 7, also known as hpe7, is related to basal cell carcinoma, multiple and overgrowth syndrome, and has symptoms including seizures An important gene associated with Holoprosencephaly 7 is PTCH1 (Patched 1), and among its related pathways/superpathways are Signal Transduction and Signaling by Hedgehog. Affiliated tissues include brain, and related phenotypes are depressed nasal tip and agenesis of corpus callosum

UniProtKB/Swiss-Prot: 73 A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability.

Disease Ontology: 11 A holoprosencephaly that has material basis in heterozygous mutation in the PTCH1 gene on chromosome 9q22.

Related Diseases for Holoprosencephaly 7

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
Holoprosencephaly 14 Nonsyndromic Holoprosencephaly

Diseases related to Holoprosencephaly 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 basal cell carcinoma, multiple 10.2 PTCH1 LOC100507346
2 overgrowth syndrome 10.2 PTCH1 LOC100507346
3 holoprosencephaly 1 10.2 ZIC2 SIX3
4 precocious puberty 10.2 PTCH1 LOC100507346
5 corpus callosum lipoma 10.1 ZIC2 SIX3
6 cerebral hemisphere lipoma 10.1 ZIC2 SIX3
7 central nervous system lipoma 10.1 ZIC2 SIX3
8 congenital hydrocephalus 10.1 PTCH1 LOC100507346
9 chromosome 18p deletion syndrome 10.1 ZIC2 SIX3
10 polydactyly, postaxial, type a1 10.1 PTCH1 LOC100507346
11 multiple benign circumferential skin creases on limbs 10.1 ZIC2 SIX3
12 colobomatous microphthalmia 10.0 SIX3 PTCH1 LOC100507346
13 acrocapitofemoral dysplasia 10.0 PTCH1 DHH
14 basal cell carcinoma 1 10.0 SMO PTCH1 LOC100507346
15 holoprosencephaly 6 10.0 ZIC2 SIX3 PTCH1
16 holoprosencephaly 8 10.0 ZIC2 SIX3 DISP1
17 46,xy sex reversal 7 10.0 GLI4 DHH
18 holoprosencephaly 4 10.0 ZIC2 SIX3 DISP1
19 orofaciodigital syndrome viii 10.0 ZIC2 SIX3 DISP1
20 large cell medulloblastoma 9.9 PTCH1 GLI2
21 desmoplastic nodular medulloblastoma 9.9 PTCH1 GLI2
22 diaphragm disease 9.9 DISP1 ALDH1A2
23 coloboma of macula 9.9 ZIC2 SIX3 PTCH1
24 adult medulloblastoma 9.9 PTCH1 GLI2
25 micronodular basal cell carcinoma 9.9 PTCH1 GLI2
26 brachydactyly, type a1 9.9 PTCH1 DHH
27 joubert syndrome 8 9.9 PTCH1 GLI2
28 culler-jones syndrome 9.9 SIX3 GLI2
29 focal dermal hypoplasia 9.8 PTCH1 GLI2
30 holoprosencephaly, recurrent infections, and monocytosis 9.8 SIX3 PTCH1 GLI2
31 vacterl association 9.8 ZIC2 GLI2
32 childhood medulloblastoma 9.7 PTCH1 GLI2
33 greig cephalopolysyndactyly syndrome 9.7 PTCH1 GLI2 DHH
34 infratentorial cancer 9.7 PTCH1 GLI2 DHH
35 holoprosencephaly 11 9.6 ZIC2 SIX3 PTCH1 GLI2
36 patau syndrome 9.6 ZIC2 SIX3 GLI2 DISP1
37 polydactyly 9.6 ZIC2 SIX3 PTCH1 GLI2
38 medulloblastoma 9.6 SMO PTCH1 LOC100507346 GLI2
39 hirschsprung disease 1 9.5 SMO PTCH1 ALDH1A2
40 basal cell carcinoma 9.5 SMO PTCH1 GLI2 DHH
41 lobar holoprosencephaly 9.5 ZIC2 SIX3 PTCH1 GLI2 DISP1
42 midline interhemispheric variant of holoprosencephaly 9.5 ZIC2 SIX3 PTCH1 GLI2 DISP1
43 septopreoptic holoprosencephaly 9.5 ZIC2 SIX3 PTCH1 GLI2 DISP1
44 microform holoprosencephaly 9.5 ZIC2 SIX3 PTCH1 GLI2 DISP1
45 holoprosencephaly 3 9.5 ZIC2 SIX3 PTCH1 GLI2 DISP1
46 solitary median maxillary central incisor 9.4 ZIC2 SIX3 PTCH1 GLI2 DISP1
47 orofacial cleft 9.4 ZIC2 SIX3 PTCH1 GLI2 DISP1
48 septooptic dysplasia 9.4 ZIC2 STAG2 SIX3 GLI2
49 holoprosencephaly 9 9.4 ZIC2 SIX3 GLI4 GLI2 DISP1
50 basal cell nevus syndrome 9.3 SMO PTCH1 LOC100507346 GLI2 DHH

Graphical network of the top 20 diseases related to Holoprosencephaly 7:



Diseases related to Holoprosencephaly 7

Symptoms & Phenotypes for Holoprosencephaly 7

Human phenotypes related to Holoprosencephaly 7:

30 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressed nasal tip 30 Occasional (7.5%) HP:0000437
2 agenesis of corpus callosum 30 Very rare (1%) HP:0001274
3 hydrocephalus 30 Very rare (1%) HP:0000238
4 global developmental delay 30 Very rare (1%) HP:0001263
5 upslanted palpebral fissure 30 Very rare (1%) HP:0000582
6 hypotelorism 30 Very rare (1%) HP:0000601
7 omphalocele 30 Very rare (1%) HP:0001539
8 partial agenesis of the corpus callosum 30 Very rare (1%) HP:0001338
9 panhypopituitarism 30 Very rare (1%) HP:0000871
10 median cleft lip and palate 30 Very rare (1%) HP:0008501
11 bilateral cleft lip and palate 30 Very rare (1%) HP:0002744
12 fusion of the left and right thalami 30 Very rare (1%) HP:0010664
13 solitary median maxillary central incisor 30 Very rare (1%) HP:0006315
14 macrocephaly 30 HP:0000256
15 seizure 30 HP:0001250
16 frontal bossing 30 HP:0002007
17 macrotia 30 HP:0000400
18 short nose 30 HP:0003196
19 iris coloboma 30 HP:0000612
20 flat occiput 30 HP:0005469
21 midface retrusion 30 HP:0011800
22 hypoplasia of the premaxilla 30 HP:0010650
23 midline defect of the nose 30 HP:0004122
24 absent nasal septal cartilage 30 HP:0005273
25 flat nasal alae 30 HP:0010649
26 parietal bossing 30 HP:0000242
27 bilateral microphthalmos 30 HP:0007633
28 broad face 30 HP:0000283
29 semilobar holoprosencephaly 30 HP:0002507
30 alobar holoprosencephaly 30 HP:0006988

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Head:
macrocephaly

Head And Neck Mouth:
cleft palate
cleft lip

Endocrine Features:
panhypopituitarism

Head And Neck Nose:
flattened nasal tip
hypoplastic nose (in 1 patient)
flattened alae

Abdomen External Features:
omphalocele (in 1 patient)

Neurologic Central Nervous System:
agenesis of corpus callosum
hydrocephalus
seizures
developmental delay
holoprosencephaly, semilobar or alobar

Head And Neck Eyes:
hypotelorism
upslanting palpebral fissures

Head And Neck Face:
midface hypoplasia
hypoplastic premaxilla

Head And Neck Teeth:
single central maxillary incisor

Clinical features from OMIM®:

610828 (Updated 08-Dec-2022)

UMLS symptoms related to Holoprosencephaly 7:


seizures

MGI Mouse Phenotypes related to Holoprosencephaly 7:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.03 ALDH1A2 DHH DISP1 GLI2 PTCH1 SIX3
2 embryo MP:0005380 9.97 ALDH1A2 DISP1 GLI2 PTCH1 SIX3 SMO
3 normal MP:0002873 9.93 ALDH1A2 DISP1 GLI2 PTCH1 SMO ZIC2
4 digestive/alimentary MP:0005381 9.92 DHH DISP1 GLI2 PTCH1 SIX3 SMO
5 limbs/digits/tail MP:0005371 9.88 ALDH1A2 DISP1 GLI2 PTCH1 SMO ZIC2
6 craniofacial MP:0005382 9.8 ALDH1A2 DISP1 GLI2 PTCH1 SIX3 SMO
7 respiratory system MP:0005388 9.7 ALDH1A2 DISP1 GLI2 PTCH1 SIX3 SMO
8 skeleton MP:0005390 9.5 ALDH1A2 DISP1 GLI2 PTCH1 SIX3 SMO
9 vision/eye MP:0005391 9.17 ALDH1A2 DISP1 GLI2 PTCH1 SIX3 SMO

Drugs & Therapeutics for Holoprosencephaly 7

Search Clinical Trials, NIH Clinical Center for Holoprosencephaly 7

Cochrane evidence based reviews: holoprosencephaly 7

Genetic Tests for Holoprosencephaly 7

Genetic tests related to Holoprosencephaly 7:

# Genetic test Affiliating Genes
1 Holoprosencephaly 7 28 PTCH1

Anatomical Context for Holoprosencephaly 7

Organs/tissues related to Holoprosencephaly 7:

MalaCards : Brain
ODiseA: Brain

Publications for Holoprosencephaly 7

Articles related to Holoprosencephaly 7:

# Title Authors PMID Year
1
Cerebro-oculo-nasal syndrome: 13 new Brazilian cases. 57 5
17985375 2007
2
PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. 57 5
17001668 2006
3
GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? 57 5
17096318 2006
4
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. 57 5
11941477 2002
5
PTCH1 duplication in a family with microcephaly and mild developmental delay. 62 57
18830227 2009
6
Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology. 57
2688166 1989
7
Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings. 62
28496998 2017
8
[Holoprosencephaly with neurogenic hypernatremia]. 62
9974095 1999
9
The epidemiology of anotia and microtia. 62
8933331 1996

Variations for Holoprosencephaly 7

ClinVar genetic disease variations for Holoprosencephaly 7:

5 (show top 50) (show all 214)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PTCH1 NM_000264.5(PTCH1):c.2723T>G (p.Val908Gly) SNV Pathogenic
8225 rs199476093 GRCh37: 9:98222046-98222046
GRCh38: 9:95459764-95459764
2 PTCH1, LOC100507346 NM_000264.5(PTCH1):c.2479A>G (p.Ser827Gly) SNV Pathogenic
8223 rs199476092 GRCh37: 9:98229479-98229479
GRCh38: 9:95467197-95467197
3 PTCH1 NM_000264.5(PTCH1):c.1216-1G>A SNV Pathogenic
561094 rs1564051834 GRCh37: 9:98240469-98240469
GRCh38: 9:95478187-95478187
4 PTCH1 NM_000264.5(PTCH1):c.2834delinsAGATGTTGTGGACCC (p.Arg945fs) INDEL Likely Pathogenic
430657 rs1554691658 GRCh37: 9:98221935-98221935
GRCh38: 9:95459653-95459653
5 PTCH1 NM_000264.5(PTCH1):c.-122G>A SNV Uncertain Significance
912334 rs980754274 GRCh37: 9:98270765-98270765
GRCh38: 9:95508483-95508483
6 PTCH1 NM_000264.5(PTCH1):c.*2180C>T SNV Uncertain Significance
912655 rs1357696436 GRCh37: 9:98206495-98206495
GRCh38: 9:95444213-95444213
7 PTCH1 NM_000264.5(PTCH1):c.*2096G>A SNV Uncertain Significance
912656 rs1331556943 GRCh37: 9:98206579-98206579
GRCh38: 9:95444297-95444297
8 PTCH1 NM_000264.5(PTCH1):c.*1556T>G SNV Uncertain Significance
912697 rs572321616 GRCh37: 9:98207119-98207119
GRCh38: 9:95444837-95444837
9 PTCH1 NM_000264.5(PTCH1):c.*1648A>G SNV Uncertain Significance
367641 rs1057515713 GRCh37: 9:98207027-98207027
GRCh38: 9:95444745-95444745
10 PTCH1 NM_000264.5(PTCH1):c.*168C>A SNV Uncertain Significance
367662 rs769353632 GRCh37: 9:98208507-98208507
GRCh38: 9:95446225-95446225
11 PTCH1 NM_000264.5(PTCH1):c.*556G>A SNV Uncertain Significance
367658 rs964764151 GRCh37: 9:98208119-98208119
GRCh38: 9:95445837-95445837
12 PTCH1 NM_000264.5(PTCH1):c.*1075A>C SNV Uncertain Significance
367649 rs1020973772 GRCh37: 9:98207600-98207600
GRCh38: 9:95445318-95445318
13 PTCH1 NM_000264.5(PTCH1):c.-78G>A SNV Uncertain Significance
367678 rs572958276 GRCh37: 9:98270721-98270721
GRCh38: 9:95508439-95508439
14 PTCH1 NM_000264.5(PTCH1):c.*3213T>C SNV Uncertain Significance
367619 rs992312438 GRCh37: 9:98205462-98205462
GRCh38: 9:95443180-95443180
15 PTCH1 NM_000264.5(PTCH1):c.2887+10G>A SNV Uncertain Significance
135886 rs202081420 GRCh37: 9:98221872-98221872
GRCh38: 9:95459590-95459590
16 PTCH1 NM_000264.5(PTCH1):c.*62C>T SNV Uncertain Significance
913150 rs1837877053 GRCh37: 9:98208613-98208613
GRCh38: 9:95446331-95446331
17 PTCH1 NM_000264.5(PTCH1):c.3449+11G>A SNV Uncertain Significance
390530 rs568528640 GRCh37: 9:98215749-98215749
GRCh38: 9:95453467-95453467
18 PTCH1 NM_000264.5(PTCH1):c.2703+12G>A SNV Uncertain Significance
913294 rs1295275193 GRCh37: 9:98224126-98224126
GRCh38: 9:95461844-95461844
19 PTCH1 NM_000264.5(PTCH1):c.*3138T>C SNV Uncertain Significance
912617 rs548583404 GRCh37: 9:98205537-98205537
GRCh38: 9:95443255-95443255
20 PTCH1 NM_000264.5(PTCH1):c.*3111G>A SNV Uncertain Significance
913718 rs1395471972 GRCh37: 9:98205564-98205564
GRCh38: 9:95443282-95443282
21 PTCH1 NM_000264.5(PTCH1):c.*2795G>T SNV Uncertain Significance
913719 rs773035324 GRCh37: 9:98205880-98205880
GRCh38: 9:95443598-95443598
22 PTCH1 NM_000264.5(PTCH1):c.*762G>C SNV Uncertain Significance
913101 rs763571205 GRCh37: 9:98207913-98207913
GRCh38: 9:95445631-95445631
23 PTCH1 NM_000264.5(PTCH1):c.*2737C>A SNV Uncertain Significance
914110 rs1038475537 GRCh37: 9:98205938-98205938
GRCh38: 9:95443656-95443656
24 PTCH1 NM_000264.5(PTCH1):c.*2425A>C SNV Uncertain Significance
914111 rs932959120 GRCh37: 9:98206250-98206250
GRCh38: 9:95443968-95443968
25 PTCH1 NM_000264.5(PTCH1):c.*1885G>A SNV Uncertain Significance
914157 rs892705165 GRCh37: 9:98206790-98206790
GRCh38: 9:95444508-95444508
26 PTCH1 NM_000264.5(PTCH1):c.*1757C>T SNV Uncertain Significance
914158 rs1837735115 GRCh37: 9:98206918-98206918
GRCh38: 9:95444636-95444636
27 PTCH1 NM_000264.5(PTCH1):c.*1353T>C SNV Uncertain Significance
913800 rs1837774312 GRCh37: 9:98207322-98207322
GRCh38: 9:95445040-95445040
28 PTCH1 NM_000264.5(PTCH1):c.*1256C>T SNV Uncertain Significance
914201 rs187832324 GRCh37: 9:98207419-98207419
GRCh38: 9:95445137-95445137
29 PTCH1 NM_000264.5(PTCH1):c.*1167A>G SNV Uncertain Significance
914202 rs192352160 GRCh37: 9:98207508-98207508
GRCh38: 9:95445226-95445226
30 PTCH1 NM_000264.5(PTCH1):c.*1153C>G SNV Uncertain Significance
914203 rs770443972 GRCh37: 9:98207522-98207522
GRCh38: 9:95445240-95445240
31 PTCH1 NM_000264.5(PTCH1):c.*750G>A SNV Uncertain Significance
913102 rs777077097 GRCh37: 9:98207925-98207925
GRCh38: 9:95445643-95445643
32 PTCH1 NM_000264.5(PTCH1):c.*592C>T SNV Uncertain Significance
914249 rs890920802 GRCh37: 9:98208083-98208083
GRCh38: 9:95445801-95445801
33 PTCH1 NM_000264.5(PTCH1):c.*186T>G SNV Uncertain Significance
367661 rs977327674 GRCh37: 9:98208489-98208489
GRCh38: 9:95446207-95446207
34 PTCH1 NM_000264.5(PTCH1):c.*3272C>T SNV Uncertain Significance
367617 rs963000528 GRCh37: 9:98205403-98205403
GRCh38: 9:95443121-95443121
35 PTCH1 NM_000264.5(PTCH1):c.*3209T>C SNV Uncertain Significance
367620 rs757611119 GRCh37: 9:98205466-98205466
GRCh38: 9:95443184-95443184
36 PTCH1 NM_000264.5(PTCH1):c.*1413C>G SNV Uncertain Significance
367645 rs1057515714 GRCh37: 9:98207262-98207262
GRCh38: 9:95444980-95444980
37 PTCH1 NM_000264.5(PTCH1):c.*2644A>C SNV Uncertain Significance
367625 rs773680534 GRCh37: 9:98206031-98206031
GRCh38: 9:95443749-95443749
38 PTCH1 NM_000264.5(PTCH1):c.1476A>G (p.Gly492=) SNV Uncertain Significance
367674 rs1057515720 GRCh37: 9:98239856-98239856
GRCh38: 9:95477574-95477574
39 PTCH1 NM_000264.5(PTCH1):c.*1358G>A SNV Uncertain Significance
367647 rs756098510 GRCh37: 9:98207317-98207317
GRCh38: 9:95445035-95445035
40 PTCH1 NM_000264.5(PTCH1):c.*623C>T SNV Uncertain Significance
367657 rs776158552 GRCh37: 9:98208052-98208052
GRCh38: 9:95445770-95445770
41 PTCH1 NM_000264.5(PTCH1):c.*2276A>T SNV Uncertain Significance
367627 rs868749157 GRCh37: 9:98206399-98206399
GRCh38: 9:95444117-95444117
42 PTCH1 NM_000264.5(PTCH1):c.*3080G>T SNV Uncertain Significance
367622 rs1006981555 GRCh37: 9:98205595-98205595
GRCh38: 9:95443313-95443313
43 PTCH1 NM_000264.5(PTCH1):c.*2146A>G SNV Uncertain Significance
367630 rs538345753 GRCh37: 9:98206529-98206529
GRCh38: 9:95444247-95444247
44 PTCH1 NM_000264.5(PTCH1):c.3765C>A (p.Ile1255=) SNV Uncertain Significance
367665 rs758229027 GRCh37: 9:98211390-98211390
GRCh38: 9:95449108-95449108
45 PTCH1 NM_000264.5(PTCH1):c.*1896T>C SNV Uncertain Significance
367635 rs949498288 GRCh37: 9:98206779-98206779
GRCh38: 9:95444497-95444497
46 PTCH1 NM_000264.5(PTCH1):c.*3337T>C SNV Uncertain Significance
367616 rs551093780 GRCh37: 9:98205338-98205338
GRCh38: 9:95443056-95443056
47 PTCH1 NM_000264.5(PTCH1):c.*1220A>G SNV Uncertain Significance
367648 rs930382710 GRCh37: 9:98207455-98207455
GRCh38: 9:95445173-95445173
48 PTCH1 NM_000264.5(PTCH1):c.*1904T>C SNV Uncertain Significance
367634 rs992648722 GRCh37: 9:98206771-98206771
GRCh38: 9:95444489-95444489
49 PTCH1 NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) SNV Uncertain Significance
8224 rs138911275 GRCh37: 9:98220308-98220308
GRCh38: 9:95458026-95458026
50 PTCH1, LOC100507346 NM_000264.5(PTCH1):c.2560+6A>G SNV Uncertain Significance
1341803 GRCh37: 9:98229392-98229392
GRCh38: 9:95467110-95467110

UniProtKB/Swiss-Prot genetic disease variations for Holoprosencephaly 7:

73
# Symbol AA change Variation ID SNP ID
1 PTCH1 p.Ala393Thr VAR_032952 rs199476091
2 PTCH1 p.Ala443Gly VAR_032953 rs878853845
3 PTCH1 p.Thr728Met VAR_032954 rs115556836
4 PTCH1 p.Val751Gly VAR_032955
5 PTCH1 p.Ser827Gly VAR_032956 rs199476092
6 PTCH1 p.Val908Gly VAR_032957 rs199476093
7 PTCH1 p.Thr1052Met VAR_032958 rs138911275

Expression for Holoprosencephaly 7

Search GEO for disease gene expression data for Holoprosencephaly 7.

Pathways for Holoprosencephaly 7

Pathways related to Holoprosencephaly 7 according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1 13.43 STAG2 SMO PTCH1 GLI2 DHH ALDH1A2
2
Show member pathways
12.15 SMO PTCH1 GLI2 DHH
3
Show member pathways
12.09 SMO PTCH1 DHH
4
Show member pathways
11.79 ZIC2 SMO PTCH1
5 11.68 ZIC2 SMO GLI2
7 11.18 SMO GLI2
8 11.14 SMO PTCH1 GLI2
9 11.08 SMO PTCH1 GLI2
10 11.08 SMO PTCH1 GLI2 DHH
11 10.96 SMO PTCH1
12 10.83 SMO PTCH1 GLI2
13
Show member pathways
10.79 SMO PTCH1 GLI4 GLI2
14
Show member pathways
10.58 SMO PTCH1 GLI2 DISP1 DHH

GO Terms for Holoprosencephaly 7

Biological processes related to Holoprosencephaly 7 according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 osteoblast differentiation GO:0001649 10 SMO GLI2 DHH
2 response to estradiol GO:0032355 10 PTCH1 DHH ALDH1A2
3 proximal/distal pattern formation GO:0009954 9.91 GLI2 ALDH1A2
4 hindbrain development GO:0030902 9.89 GLI2 ALDH1A2
5 embryonic digestive tract development GO:0048566 9.88 ALDH1A2 GLI2
6 cellular response to cholesterol GO:0071397 9.88 SMO PTCH1
7 somite development GO:0061053 9.87 SMO PTCH1
8 anterior/posterior pattern specification GO:0009952 9.86 SMO GLI2 ALDH1A2
9 mammary gland epithelial cell differentiation GO:0060644 9.85 SMO PTCH1
10 smooth muscle tissue development GO:0048745 9.84 SMO PTCH1
11 heart morphogenesis GO:0003007 9.83 SMO PTCH1 ALDH1A2
12 commissural neuron axon guidance GO:0071679 9.81 PTCH1 SMO
13 mammary gland development GO:0030879 9.8 PTCH1 GLI2
14 negative regulation of smoothened signaling pathway GO:0045879 9.8 PTCH1 GLI2
15 midgut development GO:0007494 9.8 SMO ALDH1A2
16 developmental growth GO:0048589 9.79 SMO GLI2
17 epithelial cell proliferation GO:0050673 9.78 SMO PTCH1 GLI2
18 spinal cord motor neuron differentiation GO:0021522 9.77 PTCH1 GLI2
19 pituitary gland development GO:0021983 9.73 SIX3 GLI2 ALDH1A2
20 cerebellar cortex morphogenesis GO:0021696 9.71 SMO GLI2
21 pattern specification process GO:0007389 9.67 SMO PTCH1 GLI2
22 mammary gland duct morphogenesis GO:0060603 9.63 PTCH1 GLI2
23 dorsal/ventral neural tube patterning GO:0021904 9.55 SMO PTCH1 GLI2
24 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.5 GLI2 SMO
25 dorsal/ventral pattern formation GO:0009953 9.43 SMO PTCH1 GLI2 DISP1
26 smoothened signaling pathway GO:0007224 9.32 SMO PTCH1 GLI2 DISP1 DHH

Molecular functions related to Holoprosencephaly 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 patched binding GO:0005113 9.1 SMO PTCH1 DHH

Sources for Holoprosencephaly 7

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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