HOLOPROSENCEPHALY 9

General Information (adopted from Orphanet):

Synonyms, Signs: PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES
HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES
HPE9
Number of Symptoms 38
OrphanetNr:
OMIM Id: 610829
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000028) Cryptorchidism 347 / 7739
2
(HPO:0000054) Micropenis 257 / 7739
3
(HPO:0002744) Bilateral cleft lip and palate 7 / 7739
4
(HPO:0009932) Single naris 14581620 IBIS 10 / 7739
5
(HPO:0000322) Short philtrum 17096318 IBIS 130 / 7739
6
(HPO:0000252) Microcephaly 14581620 IBIS 832 / 7739
7
(HPO:0006485) Agenesis of incisor 14581620 IBIS 1 / 7739
8
(HPO:0000327) Hypoplasia of the maxilla 129 / 7739
9
(HPO:0011800) Midface retrusion 221 / 7739
10
(HPO:0000528) Anophthalmia 42 / 7739
11
(HPO:0010290) Short hard palate 14581620 IBIS 5 / 7739
12
(HPO:0010650) Hypoplasia of the premaxilla 17096318 IBIS 39 / 7739
13
(HPO:0000568) Microphthalmia 183 / 7739
14
(HPO:0000272) Malar flattening 14581620 IBIS 277 / 7739
15
(HPO:0006315) Single median maxillary incisor 14581620 IBIS 13 / 7739
16
(HPO:0005280) Depressed nasal bridge 17096318 IBIS 381 / 7739
17
(HPO:0000689) Dental malocclusion 17096318 IBIS 114 / 7739
18
(HPO:0000601) Hypotelorism 83 / 7739
19
(HPO:0000609) Optic nerve hypoplasia 26 / 7739
20
(HPO:0011272) Underdeveloped tragus 2 / 7739
21
(HPO:0000400) Macrotia 17096318 IBIS 108 / 7739
22
(HPO:0000395) Prominent antihelix 6 / 7739
23
(HPO:0001250) Seizures 1245 / 7739
24
(HPO:0001263) Global developmental delay 853 / 7739
25
(HPO:0010627) Anterior pituitary hypoplasia 14581620 IBIS 6 / 7739
26
(HPO:0000824) Growth hormone deficiency 14581620 IBIS 56 / 7739
27
(HPO:0000871) Panhypopituitarism 14581620 IBIS 8 / 7739
28
(HPO:0010626) Anterior pituitary agenesis 14581620 IBIS 2 / 7739
29
(HPO:0001162) Postaxial hand polydactyly 14581620 IBIS 119 / 7739
30
(HPO:0004322) Short stature rare [HPO:skoehler] 1232 / 7739
31
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
32
(HPO:0001360) Holoprosencephaly 29 / 7739
33
(HPO:0003829) Incomplete penetrance 85 / 7739
34
(HPO:0001338) Partial agenesis of the corpus callosum 14581620 IBIS 22 / 7739
35
(HPO:0003745) Sporadic 131 / 7739
36
(HPO:0003828) Variable expressivity 130 / 7739
37
(HPO:0002536) Abnormal cortical gyration 17096318 IBIS 72 / 7739
38
(HPO:0000238) Hydrocephalus 14581620 IBIS 278 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Roessler et al. (2003) reported affected members of 2 families with a distinctive phenotype (within the HPE spectrum) whose primary features included defective anterior pituitary formation and panhypopituitarism, with or without overt forebrain cleavage abnormalities, and HPE-like midfacial ...
Molecular genetics OMIM In affected members of 2 families with HPE9, Roessler et al. (2003) identified loss-of-function mutations in the GLI2 gene (165230.0001-165230.0002).

Rahimov et al. (2006) reported 4 patients with GLI2 missense mutations, including 1 girl with an ...