HPE7
MCID: HLP027
MIFTS: 24

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 58 12 76 30 6 15 74
Hpe7 58 12 76
Holoprosencephaly-7 76 13
Holoprosencephaly, Type 7 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance


HPO:

33
holoprosencephaly 7:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Holoprosencephaly 7

OMIM : 58 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, is also known as hpe7, 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 : 76 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

Symptoms & Phenotypes for Holoprosencephaly 7

Human phenotypes related to Holoprosencephaly 7:

33 (show all 29)
# Description HPO Frequency HPO Source Accession
1 omphalocele 33 occasional (7.5%) HP:0001539
2 depressed nasal tip 33 occasional (7.5%) HP:0000437
3 macrocephaly 33 HP:0000256
4 agenesis of corpus callosum 33 HP:0001274
5 frontal bossing 33 HP:0002007
6 hydrocephalus 33 HP:0000238
7 seizures 33 HP:0001250
8 macrotia 33 HP:0000400
9 global developmental delay 33 HP:0001263
10 short nose 33 HP:0003196
11 upslanted palpebral fissure 33 HP:0000582
12 flat occiput 33 HP:0005469
13 midface retrusion 33 HP:0011800
14 hypotelorism 33 HP:0000601
15 iris coloboma 33 HP:0000612
16 panhypopituitarism 33 HP:0000871
17 single median maxillary incisor 33 HP:0006315
18 median cleft lip and palate 33 HP:0008501
19 bilateral cleft lip and palate 33 HP:0002744
20 hypoplasia of the premaxilla 33 HP:0010650
21 midline defect of the nose 33 HP:0004122
22 absent nasal septal cartilage 33 HP:0005273
23 bilateral microphthalmos 33 HP:0007633
24 broad face 33 HP:0000283
25 fusion of the left and right thalami 33 HP:0010664
26 parietal bossing 33 HP:0000242
27 semilobar holoprosencephaly 33 HP:0002507
28 alobar holoprosencephaly 33 HP:0006988
29 flat nasal alae 33 HP:0010649

Symptoms via clinical synopsis from OMIM:

58
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

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 30 PTCH1

Anatomical Context for Holoprosencephaly 7

MalaCards organs/tissues related to Holoprosencephaly 7:

42
Brain

Publications for Holoprosencephaly 7

Articles related to Holoprosencephaly 7:

# Title Authors Year
1
Cerebro-oculo-nasal syndrome: 13 new Brazilian cases. ( 17985375 )
2007
2
PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. ( 17001668 )
2006
3
GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? ( 17096318 )
2006
4
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. ( 11941477 )
2002

Variations for Holoprosencephaly 7

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

76
# 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 top 50) (show all 56)
# 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.3919C> T (p.Pro1307Ser) single nucleotide variant Uncertain significance rs574880967 GRCh37 Chromosome 9, 98209619: 98209619
12 PTCH1 NM_000264.4(PTCH1): c.3919C> T (p.Pro1307Ser) single nucleotide variant Uncertain significance rs574880967 GRCh38 Chromosome 9, 95447337: 95447337
13 PTCH1 NM_000264.4(PTCH1): c.4162G> A (p.Gly1388Arg) single nucleotide variant Uncertain significance rs587778631 GRCh37 Chromosome 9, 98209376: 98209376
14 PTCH1 NM_000264.4(PTCH1): c.4162G> A (p.Gly1388Arg) single nucleotide variant Uncertain significance rs587778631 GRCh38 Chromosome 9, 95447094: 95447094
15 PTCH1 NM_000264.4(PTCH1): c.4051A> G (p.Asn1351Asp) single nucleotide variant Uncertain significance rs786204103 GRCh37 Chromosome 9, 98209487: 98209487
16 PTCH1 NM_000264.4(PTCH1): c.4051A> G (p.Asn1351Asp) single nucleotide variant Uncertain significance rs786204103 GRCh38 Chromosome 9, 95447205: 95447205
17 PTCH1 NM_000264.4(PTCH1): c.2440A> C (p.Asn814His) single nucleotide variant Uncertain significance rs754623561 GRCh37 Chromosome 9, 98229518: 98229518
18 PTCH1 NM_000264.4(PTCH1): c.2440A> C (p.Asn814His) single nucleotide variant Uncertain significance rs754623561 GRCh38 Chromosome 9, 95467236: 95467236
19 PTCH1 NM_000264.4(PTCH1): c.37C> G (p.Arg13Gly) single nucleotide variant Uncertain significance rs779791579 GRCh37 Chromosome 9, 98270607: 98270607
20 PTCH1 NM_000264.4(PTCH1): c.37C> G (p.Arg13Gly) single nucleotide variant Uncertain significance rs779791579 GRCh38 Chromosome 9, 95508325: 95508325
21 PTCH1 NM_000264.4(PTCH1): c.2635G> A (p.Asp879Asn) single nucleotide variant Uncertain significance rs750373573 GRCh37 Chromosome 9, 98224206: 98224206
22 PTCH1 NM_000264.4(PTCH1): c.2635G> A (p.Asp879Asn) single nucleotide variant Uncertain significance rs750373573 GRCh38 Chromosome 9, 95461924: 95461924
23 PTCH1 NM_000264.4(PTCH1): c.4043A> G (p.Asn1348Ser) single nucleotide variant Uncertain significance rs371943557 GRCh37 Chromosome 9, 98209495: 98209495
24 PTCH1 NM_000264.4(PTCH1): c.4043A> G (p.Asn1348Ser) single nucleotide variant Uncertain significance rs371943557 GRCh38 Chromosome 9, 95447213: 95447213
25 PTCH1 NM_000264.4(PTCH1): c.2671G> A (p.Gly891Ser) single nucleotide variant Uncertain significance rs570091335 GRCh37 Chromosome 9, 98224170: 98224170
26 PTCH1 NM_000264.4(PTCH1): c.2671G> A (p.Gly891Ser) single nucleotide variant Uncertain significance rs570091335 GRCh38 Chromosome 9, 95461888: 95461888
27 PTCH1 NM_000264.4(PTCH1): c.1989G> C (p.Gln663His) single nucleotide variant Uncertain significance rs753002023 GRCh37 Chromosome 9, 98231294: 98231294
28 PTCH1 NM_000264.4(PTCH1): c.1989G> C (p.Gln663His) single nucleotide variant Uncertain significance rs753002023 GRCh38 Chromosome 9, 95469012: 95469012
29 PTCH1 NM_000264.4(PTCH1): c.181G> A (p.Ala61Thr) single nucleotide variant Uncertain significance rs150069331 GRCh37 Chromosome 9, 98270463: 98270463
30 PTCH1 NM_000264.4(PTCH1): c.181G> A (p.Ala61Thr) single nucleotide variant Uncertain significance rs150069331 GRCh38 Chromosome 9, 95508181: 95508181
31 PTCH1 NM_000264.4(PTCH1): c.1138G> A (p.Glu380Lys) single nucleotide variant Uncertain significance rs772903899 GRCh37 Chromosome 9, 98241359: 98241359
32 PTCH1 NM_000264.4(PTCH1): c.1138G> A (p.Glu380Lys) single nucleotide variant Uncertain significance rs772903899 GRCh38 Chromosome 9, 95479077: 95479077
33 PTCH1 NM_000264.4(PTCH1): c.4024C> T (p.Arg1342Cys) single nucleotide variant Uncertain significance rs781539921 GRCh37 Chromosome 9, 98209514: 98209514
34 PTCH1 NM_000264.4(PTCH1): c.4024C> T (p.Arg1342Cys) single nucleotide variant Uncertain significance rs781539921 GRCh38 Chromosome 9, 95447232: 95447232
35 PTCH1 NM_000264.4(PTCH1): c.3734A> G (p.Gln1245Arg) single nucleotide variant Uncertain significance rs767792734 GRCh37 Chromosome 9, 98211421: 98211421
36 PTCH1 NM_000264.4(PTCH1): c.3734A> G (p.Gln1245Arg) single nucleotide variant Uncertain significance rs767792734 GRCh38 Chromosome 9, 95449139: 95449139
37 PTCH1 NM_000264.4(PTCH1): c.2834delGinsAGATGTTGTGGACCC (p.Arg945Glnfs) indel Likely pathogenic rs1554691658 GRCh37 Chromosome 9, 98221935: 98221935
38 PTCH1 NM_000264.4(PTCH1): c.2834delGinsAGATGTTGTGGACCC (p.Arg945Glnfs) indel Likely pathogenic rs1554691658 GRCh38 Chromosome 9, 95459653: 95459653
39 PTCH1 NM_000264.4(PTCH1): c.3575G> A (p.Arg1192His) single nucleotide variant Uncertain significance rs762040036 GRCh38 Chromosome 9, 95449298: 95449298
40 PTCH1 NM_000264.4(PTCH1): c.3575G> A (p.Arg1192His) single nucleotide variant Uncertain significance rs762040036 GRCh37 Chromosome 9, 98211580: 98211580
41 PTCH1 NM_000264.4(PTCH1): c.412C> T (p.Arg138Cys) single nucleotide variant Uncertain significance rs139535966 GRCh38 Chromosome 9, 95485857: 95485857
42 PTCH1 NM_000264.4(PTCH1): c.412C> T (p.Arg138Cys) single nucleotide variant Uncertain significance rs139535966 GRCh37 Chromosome 9, 98248139: 98248139
43 PTCH1 NM_000264.4(PTCH1): c.3908G> T (p.Arg1303Leu) single nucleotide variant Uncertain significance rs779365332 GRCh37 Chromosome 9, 98209630: 98209630
44 PTCH1 NM_000264.4(PTCH1): c.3908G> T (p.Arg1303Leu) single nucleotide variant Uncertain significance rs779365332 GRCh38 Chromosome 9, 95447348: 95447348
45 PTCH1 NM_000264.4(PTCH1): c.901G> A (p.Asp301Asn) single nucleotide variant Uncertain significance rs767601899 GRCh37 Chromosome 9, 98242716: 98242716
46 PTCH1 NM_000264.4(PTCH1): c.901G> A (p.Asp301Asn) single nucleotide variant Uncertain significance rs767601899 GRCh38 Chromosome 9, 95480434: 95480434
47 PTCH1 NM_000264.4(PTCH1): c.2287G> T (p.Val763Phe) single nucleotide variant Uncertain significance rs544963328 GRCh38 Chromosome 9, 95467389: 95467389
48 PTCH1 NM_000264.4(PTCH1): c.2287G> T (p.Val763Phe) single nucleotide variant Uncertain significance rs544963328 GRCh37 Chromosome 9, 98229671: 98229671
49 PTCH1 NM_000264.4(PTCH1): c.842T> C (p.Met281Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 95480493: 95480493
50 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

Sources for Holoprosencephaly 7

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