HPE7
MCID: HLP027
MIFTS: 39

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 basal cell carcinoma, multiple and holoprosencephaly 8, 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 basal cell carcinoma, multiple 10.0 PTCH1 LOC100507346
2 holoprosencephaly 8 9.8 ZIC2 DISP1
3 holoprosencephaly, recurrent infections, and monocytosis 9.8 SIX3 PTCH1
4 central nervous system lipoma 9.6 ZIC2 SIX3
5 corpus callosum lipoma 9.5 ZIC2 SIX3
6 cerebral hemisphere lipoma 9.4 ZIC2 SIX3
7 orofaciodigital syndrome viii 9.3 ZIC2 SIX3
8 pallister-hall syndrome 9.3 ZIC2 SIX3 PTCH1
9 congenital nervous system abnormality 9.3 ZIC2 SIX3 PTCH1
10 holoprosencephaly 1 9.3 ZIC2 SIX3 DISP1
11 physical disorder 9.2 ZIC2 SIX3 PTCH1
12 holoprosencephaly 3 9.2 ZIC2 SIX3 DISP1
13 coloboma of macula 9.2 ZIC2 SIX3 PTCH1
14 anencephaly 9.2 ZIC2 SIX3
15 orofacial cleft 9.1 ZIC2 SIX3 PTCH1
16 holoprosencephaly 4 8.8 ZIC2 SIX3 FOXH1 DISP1
17 patau syndrome 8.8 ZIC2 SIX3 FOXH1 DISP1
18 holoprosencephaly 9 8.6 ZIC2 SIX3 PTCH1 FOXH1 DISP1
19 midline interhemispheric variant of holoprosencephaly 8.6 ZIC2 SIX3 PTCH1 FOXH1 DISP1
20 septopreoptic holoprosencephaly 8.6 ZIC2 SIX3 PTCH1 FOXH1 DISP1
21 holoprosencephaly 5 8.6 ZIC2 SIX3 PTCH1 FOXH1 DISP1
22 alobar holoprosencephaly 8.6 ZIC2 SIX3 PTCH1 FOXH1 DISP1
23 lobar holoprosencephaly 8.6 ZIC2 SIX3 PTCH1 FOXH1 DISP1
24 holoprosencephaly 2 8.6 ZIC2 SIX3 PTCH1 FOXH1 DISP1
25 microform holoprosencephaly 8.5 ZIC2 SIX3 PTCH1 FOXH1 DISP1
26 holoprosencephaly 11 8.5 ZIC2 SIX3 PTCH1 FOXH1 DISP1
27 semilobar holoprosencephaly 8.5 ZIC2 SIX3 PTCH1 FOXH1 DISP1
28 holoprosencephaly 8.2 ZIC2 SIX3 PTCH1 LOC100507346 FOXH1 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 macrocephaly 31 HP:0000256
4 agenesis of corpus callosum 31 HP:0001274
5 frontal bossing 31 HP:0002007
6 hydrocephalus 31 HP:0000238
7 seizures 31 HP:0001250
8 macrotia 31 HP:0000400
9 global developmental delay 31 HP:0001263
10 short nose 31 HP:0003196
11 midface retrusion 31 HP:0011800
12 upslanted palpebral fissure 31 HP:0000582
13 iris coloboma 31 HP:0000612
14 flat occiput 31 HP:0005469
15 hypotelorism 31 HP:0000601
16 median cleft lip and palate 31 HP:0008501
17 panhypopituitarism 31 HP:0000871
18 single median maxillary incisor 31 HP:0006315
19 bilateral cleft lip and palate 31 HP:0002744
20 hypoplasia of the premaxilla 31 HP:0010650
21 midline defect of the nose 31 HP:0004122
22 absent nasal septal cartilage 31 HP:0005273
23 bilateral microphthalmos 31 HP:0007633
24 broad face 31 HP:0000283
25 flat nasal alae 31 HP:0010649
26 fusion of the left and right thalami 31 HP:0010664
27 parietal bossing 31 HP:0000242
28 semilobar holoprosencephaly 31 HP:0002507
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:
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

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 9.8 DISP1 FOXH1 PTCH1 SIX3 ZIC2
2 digestive/alimentary MP:0005381 9.77 DISP1 FOXH1 PTCH1 SIX3 ZIC2
3 embryo MP:0005380 9.72 DISP1 FOXH1 PTCH1 SIX3 ZIC2
4 nervous system MP:0003631 9.65 DISP1 FOXH1 PTCH1 SIX3 ZIC2
5 respiratory system MP:0005388 9.55 DISP1 FOXH1 PTCH1 SIX3 ZIC2
6 skeleton MP:0005390 9.35 DISP1 FOXH1 PTCH1 SIX3 ZIC2
7 vision/eye MP:0005391 9.02 DISP1 FOXH1 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. 56 6
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? 56 6
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. 61 56
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 all 28) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PTCH1 NM_001083602.2(PTCH1):c.2525T>G (p.Val842Gly)SNV Pathogenic 8225 rs199476093 9:98222046-98222046 9:95459764-95459764
2 PTCH1 NM_001083602.2(PTCH1):c.2636delinsAGATGTTGTGGACCC (p.Arg879fs)indel Likely pathogenic 430657 rs1554691658 9:98221935-98221935 9:95459653-95459653
3 PTCH1 NM_001083602.2(PTCH1):c.1791G>C (p.Gln597His)SNV Conflicting interpretations of pathogenicity 237462 rs753002023 9:98231294-98231294 9:95469012-95469012
4 PTCH1 NM_001083602.2(PTCH1):c.4-1582G>ASNV Uncertain significance 409215 rs150069331 9:98270463-98270463 9:95508181-95508181
5 PTCH1 NM_001083602.2(PTCH1):c.940G>A (p.Glu314Lys)SNV Uncertain significance 409137 rs772903899 9:98241359-98241359 9:95479077-95479077
6 PTCH1 NM_001083602.2(PTCH1):c.3826C>T (p.Arg1276Cys)SNV Uncertain significance 409167 rs781539921 9:98209514-98209514 9:95447232-95447232
7 PTCH1 NM_001083602.2(PTCH1):c.3536A>G (p.Gln1179Arg)SNV Uncertain significance 409208 rs767792734 9:98211421-98211421 9:95449139-95449139
8 PTCH1 NM_001083602.2(PTCH1):c.3377G>A (p.Arg1126His)SNV Uncertain significance 486183 rs762040036 9:98211580-98211580 9:95449298-95449298
9 PTCH1 NM_001083602.2(PTCH1):c.214C>T (p.Arg72Cys)SNV Uncertain significance 486174 rs139535966 9:98248139-98248139 9:95485857-95485857
10 PTCH1 NM_001083602.2(PTCH1):c.3710G>T (p.Arg1237Leu)SNV Uncertain significance 524547 rs779365332 9:98209630-98209630 9:95447348-95447348
11 PTCH1 NM_001083602.2(PTCH1):c.703G>A (p.Asp235Asn)SNV Uncertain significance 524544 rs767601899 9:98242716-98242716 9:95480434-95480434
12 PTCH1 NM_001083602.2(PTCH1):c.2089G>T (p.Val697Phe)SNV Uncertain significance 524507 rs544963328 9:98229671-98229671 9:95467389-95467389
13 PTCH1 NM_001083602.2(PTCH1):c.644T>C (p.Met215Thr)SNV Uncertain significance 560251 rs1564055682 9:98242775-98242775 9:95480493-95480493
14 PTCH1 NM_001083602.2(PTCH1):c.3940G>A (p.Ala1314Thr)SNV Uncertain significance 577111 9:98209400-98209400 9:95447118-95447118
15 PTCH1 NM_001083602.2(PTCH1):c.3851G>A (p.Arg1284Gln)SNV Uncertain significance 577136 9:98209489-98209489 9:95447207-95447207
16 PTCH1 NM_001083602.2(PTCH1):c.751C>T (p.Leu251Phe)SNV Uncertain significance 578248 rs1380199153 9:98242369-98242369 9:95480087-95480087
17 PTCH1 NM_001083602.2(PTCH1):c.3721C>T (p.Pro1241Ser)SNV Uncertain significance 132753 rs574880967 9:98209619-98209619 9:95447337-95447337
18 PTCH1 NM_001083602.2(PTCH1):c.3964G>A (p.Gly1322Arg)SNV Uncertain significance 135105 rs587778631 9:98209376-98209376 9:95447094-95447094
19 PTCH1 NM_001083602.2(PTCH1):c.3853A>G (p.Asn1285Asp)SNV Uncertain significance 188148 rs786204103 9:98209487-98209487 9:95447205-95447205
20 PTCH1 NM_001083602.2(PTCH1):c.2242A>C (p.Asn748His)SNV Uncertain significance 188150 rs754623561 9:98229518-98229518 9:95467236-95467236
21 PTCH1 NM_001083602.2(PTCH1):c.4-1726C>GSNV Uncertain significance 188208 rs779791579 9:98270607-98270607 9:95508325-95508325
22 PTCH1 NM_001083602.2(PTCH1):c.2437G>A (p.Asp813Asn)SNV Uncertain significance 216378 rs750373573 9:98224206-98224206 9:95461924-95461924
23 PTCH1 NM_001083602.2(PTCH1):c.3845A>G (p.Asn1282Ser)SNV Uncertain significance 220391 rs371943557 9:98209495-98209495 9:95447213-95447213
24 PTCH1 NM_001083602.2(PTCH1):c.2473G>A (p.Gly825Ser)SNV Uncertain significance 220717 rs570091335 9:98224170-98224170 9:95461888-95461888
25 PTCH1 NM_001083602.2(PTCH1):c.979G>A (p.Ala327Thr)SNV Likely benign 8221 rs199476091 9:98241320-98241320 9:95479038-95479038
26 PTCH1 NM_001083602.2(PTCH1):c.2957C>T (p.Thr986Met)SNV Likely benign 8224 rs138911275 9:98220308-98220308 9:95458026-95458026
27 PTCH1 NM_001083602.2(PTCH1):c.1985C>T (p.Thr662Met)SNV Benign/Likely benign 8222 rs115556836 9:98231100-98231100 9:95468818-95468818
28 PTCH1 NM_001083602.2(PTCH1):c.2281A>G (p.Ser761Gly)SNV Benign 8223 rs199476092 9:98229479-98229479 9:95467197-95467197

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 positive regulation of transcription, DNA-templated GO:0045893 9.54 ZIC2 PTCH1 FOXH1
2 negative regulation of transcription, DNA-templated GO:0045892 9.5 ZIC2 SIX3 PTCH1
3 negative regulation of DNA-binding transcription factor activity GO:0043433 9.26 PTCH1 FOXH1
4 determination of left/right symmetry GO:0007368 9.16 FOXH1 DISP1
5 dorsal/ventral pattern formation GO:0009953 8.96 PTCH1 DISP1
6 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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