HOLOPROSENCEPHALY 4

General Information (adopted from Orphanet):

Synonyms, Signs: HPE4
Number of Symptoms 9
OrphanetNr:
OMIM Id: 142946
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:0005280) Depressed nasal bridge 381 / 7739
2
(HPO:0008501) Median cleft lip and palate 7 / 7739
3
(HPO:0000161) Median cleft lip 27 / 7739
4
(HPO:0000601) Hypotelorism 83 / 7739
5
(HPO:0005273) Absent nasal septal cartilage 4 / 7739
6
(HPO:0000437) Depressed nasal tip 17 / 7739
7
(HPO:0000508) Ptosis 459 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
(HPO:0002507) Semilobar holoprosencephaly 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Genotype-Phenotype Correlations OMIM Mercier et al. (2011) reported the clinical and molecular features of a large European series of 645 HPE probands (51% fetuses) and 699 relatives in order to examine genotype/phenotype correlations. The facial features were assigned to 4 categories: ...
Molecular genetics OMIM By FISH analysis, Gripp et al. (2000) demonstrated that the TGIF gene resides within the HPE4 minimal critical region. Mutation analysis of the TGIF gene in 268 DNA samples of patients with HPE detected 4 heterozygous missense mutations ...