HPE7
MCID: HLP027
MIFTS: 30

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 57 12 75 29 6 15 73
Hpe7 57 12 75
Holoprosencephaly-7 75 13
Holoprosencephaly, Type 7 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance


HPO:

32
holoprosencephaly 7:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


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). (610828)

MalaCards based summary : Holoprosencephaly 7, also known as hpe7, is related to holoprosencephaly and septopreoptic holoprosencephaly, and has symptoms including seizures An important gene associated with Holoprosencephaly 7 is PTCH1 (Patched 1). Affiliated tissues include brain, and related phenotypes are macrocephaly and agenesis of corpus callosum

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

UniProtKB/Swiss-Prot : 75 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

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



Diseases related to Holoprosencephaly 7

Symptoms & Phenotypes for Holoprosencephaly 7

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Holoprosencephaly 7:

32 (show all 29)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 agenesis of corpus callosum 32 HP:0001274
3 frontal bossing 32 HP:0002007
4 hydrocephalus 32 HP:0000238
5 seizures 32 HP:0001250
6 macrotia 32 HP:0000400
7 global developmental delay 32 HP:0001263
8 short nose 32 HP:0003196
9 upslanted palpebral fissure 32 HP:0000582
10 flat occiput 32 HP:0005469
11 midface retrusion 32 HP:0011800
12 hypotelorism 32 HP:0000601
13 iris coloboma 32 HP:0000612
14 omphalocele 32 occasional (7.5%) HP:0001539
15 depressed nasal tip 32 occasional (7.5%) HP:0000437
16 panhypopituitarism 32 HP:0000871
17 single median maxillary incisor 32 HP:0006315
18 median cleft lip and palate 32 HP:0008501
19 bilateral cleft lip and palate 32 HP:0002744
20 hypoplasia of the premaxilla 32 HP:0010650
21 midline defect of the nose 32 HP:0004122
22 absent nasal septal cartilage 32 HP:0005273
23 bilateral microphthalmos 32 HP:0007633
24 fusion of the left and right thalami 32 HP:0010664
25 parietal bossing 32 HP:0000242
26 semilobar holoprosencephaly 32 HP:0002507
27 broad face 32 HP:0000283
28 alobar holoprosencephaly 32 HP:0006988
29 flat nasal alae 32 HP:0010649

UMLS symptoms related to Holoprosencephaly 7:


seizures

GenomeRNAi Phenotypes related to Holoprosencephaly 7 according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.4 PTCH1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.4 NODAL
3 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.4 NODAL
4 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.4 NODAL
5 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.4 NODAL
6 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.4 NODAL
7 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.4 NODAL
8 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.4 PTCH1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.4 NODAL PTCH1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.4 PTCH1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.4 PTCH1

MGI Mouse Phenotypes related to Holoprosencephaly 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 taste/olfaction MP:0005394 8.62 NODAL PTCH1

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:

41
Brain

Publications for Holoprosencephaly 7

Variations for Holoprosencephaly 7

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

75
# 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

ClinVar genetic disease variations for Holoprosencephaly 7:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTCH1 NM_000264.3(PTCH1): c.1177G> A (p.Ala393Thr) single nucleotide variant Likely benign rs199476091 GRCh37 Chromosome 9, 98241320: 98241320
2 PTCH1 NM_000264.3(PTCH1): c.1177G> A (p.Ala393Thr) single nucleotide variant Likely benign rs199476091 GRCh38 Chromosome 9, 95479038: 95479038
3 PTCH1 NM_000264.3(PTCH1): c.2183C> T (p.Thr728Met) single nucleotide variant Conflicting interpretations of pathogenicity rs115556836 GRCh37 Chromosome 9, 98231100: 98231100
4 PTCH1 NM_000264.3(PTCH1): c.2183C> T (p.Thr728Met) single nucleotide variant Conflicting interpretations of pathogenicity rs115556836 GRCh38 Chromosome 9, 95468818: 95468818
5 PTCH1 NM_000264.3(PTCH1): c.2479A> G (p.Ser827Gly) single nucleotide variant Benign rs199476092 GRCh37 Chromosome 9, 98229479: 98229479
6 PTCH1 NM_000264.3(PTCH1): c.2479A> G (p.Ser827Gly) single nucleotide variant Benign rs199476092 GRCh38 Chromosome 9, 95467197: 95467197
7 PTCH1 NM_000264.3(PTCH1): c.3155C> T (p.Thr1052Met) single nucleotide variant Likely benign rs138911275 GRCh37 Chromosome 9, 98220308: 98220308
8 PTCH1 NM_000264.3(PTCH1): c.3155C> T (p.Thr1052Met) single nucleotide variant Likely benign rs138911275 GRCh38 Chromosome 9, 95458026: 95458026
9 PTCH1 NM_000264.3(PTCH1): c.2723T> G (p.Val908Gly) single nucleotide variant Pathogenic rs199476093 GRCh37 Chromosome 9, 98222046: 98222046
10 PTCH1 NM_000264.3(PTCH1): c.2723T> G (p.Val908Gly) single nucleotide variant Pathogenic rs199476093 GRCh38 Chromosome 9, 95459764: 95459764
11 PTCH1 NM_000264.4(PTCH1): c.2834delGinsAGATGTTGTGGACCC (p.Arg945Glnfs) indel Likely pathogenic GRCh37 Chromosome 9, 98221935: 98221935
12 PTCH1 NM_000264.4(PTCH1): c.2834delGinsAGATGTTGTGGACCC (p.Arg945Glnfs) indel Likely pathogenic GRCh38 Chromosome 9, 95459653: 95459653
13 PTCH1 NM_000264.4(PTCH1): c.842T> C (p.Met281Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 95480493: 95480493
14 PTCH1 NM_000264.4(PTCH1): c.842T> C (p.Met281Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 98242775: 98242775

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 brain development GO:0007420 8.96 NODAL PTCH1
2 in utero embryonic development GO:0001701 8.62 NODAL PTCH1

Sources for Holoprosencephaly 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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