HPE7
MCID: HLP027
MIFTS: 40

Holoprosencephaly 7 (HPE7)

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

Aliases & Classifications for Holoprosencephaly 7

MalaCards integrated aliases for Holoprosencephaly 7:

Name: Holoprosencephaly 7 56 12 73 29 6 15 71
Hpe7 56 12 73
Holoprosencephaly-7 73 13
Holoprosencephaly, Type 7 39

Characteristics:

OMIM:

56
Miscellaneous:
incomplete penetrance

Inheritance:
autosomal dominant


HPO:

31
holoprosencephaly 7:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



Summaries for Holoprosencephaly 7

OMIM : 56 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). (610828)

MalaCards based summary : Holoprosencephaly 7, also known as hpe7, is related to holoprosencephaly, recurrent infections, and monocytosis and holoprosencephaly 1, and has symptoms including seizures An important gene associated with Holoprosencephaly 7 is PTCH1 (Patched 1). Affiliated tissues include brain, and related phenotypes are omphalocele and depressed nasal tip

Disease Ontology : 12 A holoprosencephaly that has material basis in heterozygous mutation in the PTCH1 gene on chromosome 9q22.

UniProtKB/Swiss-Prot : 73 Holoprosencephaly 7: 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.

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
Nonsyndromic Holoprosencephaly

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

(show all 28)
# Related Disease Score Top Affiliating Genes
1 holoprosencephaly, recurrent infections, and monocytosis 9.9 SIX3 PTCH1
2 holoprosencephaly 1 9.7 ZIC2 SIX3
3 central nervous system lipoma 9.6 ZIC2 SIX3
4 holoprosencephaly 8 9.5 ZIC2 DISP1
5 corpus callosum lipoma 9.5 ZIC2 SIX3
6 cerebral hemisphere lipoma 9.4 ZIC2 SIX3
7 pallister-hall syndrome 9.3 ZIC2 SIX3 PTCH1
8 congenital nervous system abnormality 9.3 ZIC2 SIX3 PTCH1
9 physical disorder 9.3 ZIC2 SIX3 PTCH1
10 anencephaly 9.2 ZIC2 SIX3
11 holoprosencephaly 5 9.2 ZIC2 SIX3 DISP1
12 holoprosencephaly 2 9.2 ZIC2 SIX3 DISP1
13 holoprosencephaly 4 9.2 ZIC2 SIX3 DISP1
14 holoprosencephaly 3 9.2 ZIC2 SIX3 DISP1
15 patau syndrome 9.2 ZIC2 SIX3 DISP1
16 coloboma of macula 9.2 ZIC2 SIX3 PTCH1
17 orofaciodigital syndrome viii 9.2 ZIC2 SIX3 DISP1
18 orofacial cleft 9.2 ZIC2 SIX3 PTCH1
19 holoprosencephaly 9 8.9 ZIC2 SIX3 PTCH1 DISP1
20 midline interhemispheric variant of holoprosencephaly 8.9 ZIC2 SIX3 PTCH1 DISP1
21 septopreoptic holoprosencephaly 8.9 ZIC2 SIX3 PTCH1 DISP1
22 alobar holoprosencephaly 8.9 ZIC2 SIX3 PTCH1 DISP1
23 lobar holoprosencephaly 8.9 ZIC2 SIX3 PTCH1 DISP1
24 microform holoprosencephaly 8.9 ZIC2 SIX3 PTCH1 DISP1
25 holoprosencephaly 11 8.9 ZIC2 SIX3 PTCH1 DISP1
26 solitary median maxillary central incisor 8.9 ZIC2 SIX3 PTCH1 DISP1
27 semilobar holoprosencephaly 8.9 ZIC2 SIX3 PTCH1 DISP1
28 holoprosencephaly 8.6 ZIC2 SIX3 PTCH1 LOC100507346 DISP1

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:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 omphalocele 31 occasional (7.5%) HP:0001539
2 depressed nasal tip 31 occasional (7.5%) HP:0000437
3 global developmental delay 31 HP:0001263
4 macrotia 31 HP:0000400
5 macrocephaly 31 HP:0000256
6 short nose 31 HP:0003196
7 hydrocephalus 31 HP:0000238
8 frontal bossing 31 HP:0002007
9 upslanted palpebral fissure 31 HP:0000582
10 iris coloboma 31 HP:0000612
11 flat occiput 31 HP:0005469
12 agenesis of corpus callosum 31 HP:0001274
13 hypotelorism 31 HP:0000601
14 midface retrusion 31 HP:0011800
15 panhypopituitarism 31 HP:0000871
16 single median maxillary incisor 31 HP:0006315
17 median cleft lip and palate 31 HP:0008501
18 bilateral cleft lip and palate 31 HP:0002744
19 hypoplasia of the premaxilla 31 HP:0010650
20 midline defect of the nose 31 HP:0004122
21 absent nasal septal cartilage 31 HP:0005273
22 flat nasal alae 31 HP:0010649
23 fusion of the left and right thalami 31 HP:0010664
24 parietal bossing 31 HP:0000242
25 bilateral microphthalmos 31 HP:0007633
26 broad face 31 HP:0000283
27 semilobar holoprosencephaly 31 HP:0002507
28 seizure 31 HP:0001250
29 alobar holoprosencephaly 31 HP:0006988

Symptoms via clinical synopsis from OMIM:

56
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:
seizures
hydrocephalus
agenesis of corpus callosum
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

UMLS symptoms related to Holoprosencephaly 7:


seizures

MGI Mouse Phenotypes related to Holoprosencephaly 7:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.71 DISP1 PTCH1 SIX3 ZIC2
2 digestive/alimentary MP:0005381 9.67 DISP1 PTCH1 SIX3 ZIC2
3 embryo MP:0005380 9.62 DISP1 PTCH1 SIX3 ZIC2
4 respiratory system MP:0005388 9.56 DISP1 PTCH1 SIX3 ZIC2
5 skeleton MP:0005390 9.46 DISP1 PTCH1 SIX3 ZIC2
6 taste/olfaction MP:0005394 8.96 PTCH1 SIX3
7 vision/eye MP:0005391 8.92 DISP1 PTCH1 SIX3 ZIC2

Drugs & Therapeutics for Holoprosencephaly 7

Search Clinical Trials , NIH Clinical Center for Holoprosencephaly 7

Genetic Tests for Holoprosencephaly 7

Genetic tests related to Holoprosencephaly 7:

# Genetic test Affiliating Genes
1 Holoprosencephaly 7 29 PTCH1

Anatomical Context for Holoprosencephaly 7

MalaCards organs/tissues related to Holoprosencephaly 7:

40
Brain

Publications for Holoprosencephaly 7

Articles related to Holoprosencephaly 7:

# Title Authors PMID Year
1
Cerebro-oculo-nasal syndrome: 13 new Brazilian cases. 6 56
17985375 2007
2
PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. 56 6
17001668 2006
3
GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? 6 56
17096318 2006
4
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. 6 56
11941477 2002
5
PTCH1 duplication in a family with microcephaly and mild developmental delay. 56 61
18830227 2009
6
Holoprosencephaly Overview 6
20301702 2000
7
Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology. 56
2688166 1989
8
Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings. 61
28496998 2017
9
[Holoprosencephaly with neurogenic hypernatremia]. 61
9974095 1999
10
The epidemiology of anotia and microtia. 61
8933331 1996

Variations for Holoprosencephaly 7

ClinVar genetic disease variations for Holoprosencephaly 7:

6 (show top 50) (show all 200) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PTCH1 NM_000264.5(PTCH1):c.2723T>G (p.Val908Gly)SNV Pathogenic 8225 rs199476093 9:98222046-98222046 9:95459764-95459764
2 PTCH1 NM_000264.5(PTCH1):c.2834delinsAGATGTTGTGGACCC (p.Arg945fs)indel Likely pathogenic 430657 rs1554691658 9:98221935-98221935 9:95459653-95459653
3 PTCH1 NM_000264.5(PTCH1):c.4134T>C (p.Thr1378=)SNV Conflicting interpretations of pathogenicity 486171 rs775499386 9:98209404-98209404 9:95447122-95447122
4 PTCH1 NM_000264.5(PTCH1):c.2333C>T (p.Thr778Met)SNV Conflicting interpretations of pathogenicity 409136 rs747762028 9:98229625-98229625 9:95467343-95467343
5 PTCH1 NM_000264.5(PTCH1):c.2176C>T (p.Pro726Ser)SNV Conflicting interpretations of pathogenicity 409194 rs758811078 9:98231107-98231107 9:95468825-95468825
6 PTCH1 NM_000264.5(PTCH1):c.777C>T (p.Phe259=)SNV Conflicting interpretations of pathogenicity 415493 rs750313305 9:98242840-98242840 9:95480558-95480558
7 PTCH1 NM_000264.5(PTCH1):c.4024C>T (p.Arg1342Cys)SNV Conflicting interpretations of pathogenicity 409167 rs781539921 9:98209514-98209514 9:95447232-95447232
8 PTCH1 NM_000264.5(PTCH1):c.3066C>T (p.Ile1022=)SNV Conflicting interpretations of pathogenicity 524595 rs755755175 9:98220397-98220397 9:95458115-95458115
9 PTCH1 NM_000264.5(PTCH1):c.4027G>A (p.Gly1343Arg)SNV Conflicting interpretations of pathogenicity 41664 rs200100952 9:98209511-98209511 9:95447229-95447229
10 PTCH1 NM_000264.5(PTCH1):c.*450A>CSNV Conflicting interpretations of pathogenicity 914740 9:98208225-98208225 9:95445943-95445943
11 PTCH1 NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met)SNV Conflicting interpretations of pathogenicity 8224 rs138911275 9:98220308-98220308 9:95458026-95458026
12 PTCH1 NM_000264.5(PTCH1):c.63C>T (p.Ile21=)SNV Conflicting interpretations of pathogenicity 524607 rs1284183739 9:98270581-98270581 9:95508299-95508299
13 PTCH1 NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys)SNV Conflicting interpretations of pathogenicity 132723 rs147067171 9:98209591-98209591 9:95447309-95447309
14 PTCH1 NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser)SNV Conflicting interpretations of pathogenicity 132753 rs574880967 9:98209619-98209619 9:95447337-95447337
15 PTCH1 NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His)SNV Conflicting interpretations of pathogenicity 135101 rs560967532 9:98211538-98211538 9:95449256-95449256
16 PTCH1 NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn)SNV Conflicting interpretations of pathogenicity 135110 rs142274954 9:98240378-98240378 9:95478096-95478096
17 PTCH1 NM_000264.5(PTCH1):c.2177C>G (p.Pro726Arg)SNV Conflicting interpretations of pathogenicity 135877 rs587780697 9:98231106-98231106 9:95468824-95468824
18 PTCH1 NM_000264.5(PTCH1):c.3624C>A (p.Ala1208=)SNV Conflicting interpretations of pathogenicity 135894 rs149691476 9:98211531-98211531 9:95449249-95449249
19 PTCH1 NM_000264.5(PTCH1):c.2887+10G>ASNV Conflicting interpretations of pathogenicity 135886 rs202081420 9:98221872-98221872 9:95459590-95459590
20 PTCH1 NM_000264.5(PTCH1):c.801G>A (p.Glu267=)SNV Conflicting interpretations of pathogenicity 135907 rs374155092 9:98242816-98242816 9:95480534-95480534
21 PTCH1 NM_000264.5(PTCH1):c.884C>T (p.Pro295Leu)SNV Conflicting interpretations of pathogenicity 135908 rs370755364 9:98242733-98242733 9:95480451-95480451
22 PTCH1 NM_000264.5(PTCH1):c.324A>G (p.Ile108Met)SNV Conflicting interpretations of pathogenicity 188114 rs144182921 9:98268759-98268759 9:95506477-95506477
23 PTCH1 NM_000264.5(PTCH1):c.113G>T (p.Gly38Val)SNV Conflicting interpretations of pathogenicity 188272 rs143494325 9:98270531-98270531 9:95508249-95508249
24 PTCH1 NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly)SNV Conflicting interpretations of pathogenicity 188208 rs779791579 9:98270607-98270607 9:95508325-95508325
25 PTCH1 NM_000264.5(PTCH1):c.4240G>A (p.Val1414Met)SNV Conflicting interpretations of pathogenicity 216389 rs149667902 9:98209298-98209298 9:95447016-95447016
26 PTCH1 NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met)SNV Conflicting interpretations of pathogenicity 216388 rs187104739 9:98209397-98209397 9:95447115-95447115
27 PTCH1 NM_000264.5(PTCH1):c.3423G>A (p.Ala1141=)SNV Conflicting interpretations of pathogenicity 216382 rs745948150 9:98215786-98215786 9:95453504-95453504
28 PTCH1 NM_000264.5(PTCH1):c.2692G>A (p.Asp898Asn)SNV Conflicting interpretations of pathogenicity 215694 rs531947455 9:98224149-98224149 9:95461867-95461867
29 PTCH1 NM_000264.5(PTCH1):c.3372A>T (p.Ala1124=)SNV Conflicting interpretations of pathogenicity 220131 rs756638660 9:98215837-98215837 9:95453555-95453555
30 PTCH1 NM_000264.5(PTCH1):c.2671G>A (p.Gly891Ser)SNV Conflicting interpretations of pathogenicity 220717 rs570091335 9:98224170-98224170 9:95461888-95461888
31 PTCH1 NM_000264.5(PTCH1):c.1348-4G>ASNV Conflicting interpretations of pathogenicity 220126 rs772826555 9:98239988-98239988 9:95477706-95477706
32 PTCH1 NM_000264.5(PTCH1):c.3908G>A (p.Arg1303His)SNV Conflicting interpretations of pathogenicity 237489 rs779365332 9:98209630-98209630 9:95447348-95447348
33 PTCH1 NM_000264.5(PTCH1):c.2270T>C (p.Phe757Ser)SNV Conflicting interpretations of pathogenicity 237468 rs547954117 9:98229688-98229688 9:95467406-95467406
34 PTCH1 NM_000264.5(PTCH1):c.1989G>C (p.Gln663His)SNV Conflicting interpretations of pathogenicity 237462 rs753002023 9:98231294-98231294 9:95469012-95469012
35 PTCH1 NM_000264.5(PTCH1):c.2184G>A (p.Thr728=)SNV Conflicting interpretations of pathogenicity 255674 rs201103723 9:98231099-98231099 9:95468817-95468817
36 PTCH1 NM_000264.5(PTCH1):c.1808G>A (p.Arg603His)SNV Conflicting interpretations of pathogenicity 367669 rs199523893 9:98232134-98232134 9:95469852-95469852
37 PTCH1 NM_000264.5(PTCH1):c.1653G>A (p.Thr551=)SNV Conflicting interpretations of pathogenicity 367670 rs766039170 9:98238391-98238391 9:95476109-95476109
38 PTCH1 NM_000264.5(PTCH1):c.4152G>A (p.Pro1384=)SNV Conflicting interpretations of pathogenicity 367663 rs761887390 9:98209386-98209386 9:95447104-95447104
39 PTCH1 NM_000264.5(PTCH1):c.4033C>T (p.Arg1345Cys)SNV Conflicting interpretations of pathogenicity 367664 rs556901417 9:98209505-98209505 9:95447223-95447223
40 PTCH1 NM_000264.5(PTCH1):c.1049G>A (p.Ser350Asn)SNV Conflicting interpretations of pathogenicity 367676 rs779294007 9:98242269-98242269 9:95479987-95479987
41 PTCH1 NM_000264.5(PTCH1):c.3449+11G>ASNV Conflicting interpretations of pathogenicity 390530 rs568528640 9:98215749-98215749 9:95453467-95453467
42 PTCH1 NM_000264.5(PTCH1):c.1215+14C>TSNV Conflicting interpretations of pathogenicity 392490 rs367857273 9:98241268-98241268 9:95478986-95478986
43 PTCH1 NM_000264.5(PTCH1):c.46G>A (p.Gly16Ser)SNV Uncertain significance 367677 rs1057515721 9:98270598-98270598 9:95508316-95508316
44 PTCH1 NM_000264.5(PTCH1):c.1120G>A (p.Glu374Lys)SNV Uncertain significance 367675 rs144323077 9:98241377-98241377 9:95479095-95479095
45 PTCH1 NM_000264.5(PTCH1):c.*1896T>CSNV Uncertain significance 367635 rs949498288 9:98206779-98206779 9:95444497-95444497
46 PTCH1 NM_000264.5(PTCH1):c.*1358G>ASNV Uncertain significance 367647 rs756098510 9:98207317-98207317 9:95445035-95445035
47 PTCH1 NM_000264.5(PTCH1):c.*623C>TSNV Uncertain significance 367657 rs776158552 9:98208052-98208052 9:95445770-95445770
48 PTCH1 NM_000264.5(PTCH1):c.*3337T>CSNV Uncertain significance 367616 rs551093780 9:98205338-98205338 9:95443056-95443056
49 PTCH1 NM_000264.5(PTCH1):c.*2644A>CSNV Uncertain significance 367625 rs773680534 9:98206031-98206031 9:95443749-95443749
50 PTCH1 NM_000264.5(PTCH1):c.1476A>G (p.Gly492=)SNV Uncertain significance 367674 rs1057515720 9:98239856-98239856 9:95477574-95477574

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

GO Terms for Holoprosencephaly 7

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 9.33 ZIC2 SIX3 PTCH1
2 visual perception GO:0007601 9.26 ZIC2 SIX3
3 dorsal/ventral pattern formation GO:0009953 8.96 PTCH1 DISP1
4 brain development GO:0007420 8.8 ZIC2 SIX3 PTCH1

Sources for Holoprosencephaly 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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