HOLOPROSENCEPHALY 7

General Information (adopted from Orphanet):

Synonyms, Signs: HPE7
Number of Symptoms 28
OrphanetNr:
OMIM Id: 610828
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0005469) Flat occiput 30 / 7739
2
(HPO:0005273) Absent nasal septal cartilage 4 / 7739
3
(HPO:0005326) Hypoplastic philtrum 4 / 7739
4
(HPO:0000256) Macrocephaly 298 / 7739
5
(HPO:0000689) Dental malocclusion 114 / 7739
6
(HPO:0000316) Hypertelorism 644 / 7739
7
(HPO:0000437) Depressed nasal tip 17 / 7739
8
(HPO:0006315) Single median maxillary incisor 13 / 7739
9
(HPO:0002007) Frontal bossing 366 / 7739
10
(HPO:0000242) Parietal bossing 11 / 7739
11
(HPO:0002744) Bilateral cleft lip and palate 7 / 7739
12
(HPO:0000601) Hypotelorism 83 / 7739
13
(HPO:0010649) Flat nasal alae 1 / 7739
14
(HPO:0007633) Bilateral microphthalmos 13 / 7739
15
(HPO:0003196) Short nose 264 / 7739
16
(HPO:0000327) Hypoplasia of the maxilla 129 / 7739
17
(HPO:0000283) Broad face 12 / 7739
18
(HPO:0010650) Hypoplasia of the premaxilla 39 / 7739
19
(HPO:0008501) Median cleft lip and palate 7 / 7739
20
(HPO:0004122) Midline defect of the nose 1 / 7739
21
(HPO:0000400) Macrotia 108 / 7739
22
(HPO:0001263) Global developmental delay 853 / 7739
23
(HPO:0000871) Panhypopituitarism 8 / 7739
24
(HPO:0001539) Omphalocele 102 / 7739
25
(HPO:0002507) Semilobar holoprosencephaly 6 / 7739
26
(HPO:0001274) Agenesis of corpus callosum 142 / 7739
27
(HPO:0010663) Abnormality of thalamus morphology 6 / 7739
28
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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).
Clinical Description OMIM Ming et al. (2002) described 5 probands from 5 families affected with HPE7. One female proband had semilobar HPE, absence of the corpus callosum, and fusion of the thalami. Her brother had a single central maxillary incisor, bilateral ...
Molecular genetics OMIM Ming et al. (2002) hypothesized that mutations in genes encoding other components of the SHH (600725) signaling pathway could also be associated with HPE. PTCH1, the receptor for SHH, normally acts to repress SHH signaling. This repression is ...