HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 29
OrphanetNr:
OMIM Id: 610680
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:0000028) Cryptorchidism 347 / 7739
2
(HPO:0000054) Micropenis 257 / 7739
3
(HPO:0000340) Sloping forehead 86 / 7739
4
(HPO:0000286) Epicanthus 371 / 7739
5
(HPO:0000252) Microcephaly 832 / 7739
6
(HPO:0000248) Brachycephaly 222 / 7739
7
(HPO:0001999) Abnormal facial shape 169 / 7739
8
(HPO:0000356) Abnormality of the outer ear 85 / 7739
9
(HPO:0000377) Abnormality of the pinna 111 / 7739
10
(HPO:0006887) Intellectual disability, progressive 68 / 7739
11
(HPO:0010864) Intellectual disability, severe 120 / 7739
12
(HPO:0003186) Inverted nipples 15 / 7739
13
(HPO:0001831) Short toe 52 / 7739
14
(HPO:0009381) Short finger 45 / 7739
15
(HPO:0001156) Brachydactyly syndrome 180 / 7739
16
(HPO:0001182) Tapered finger 93 / 7739
17
(HPO:0001508) Failure to thrive 454 / 7739
18
(HPO:0001581) Recurrent skin infections 9 / 7739
19
(HPO:0012311) Monocytosis 10 / 7739
20
(HPO:0002719) Recurrent infections 107 / 7739
21
(HPO:0001274) Agenesis of corpus callosum 142 / 7739
22
(MedDRA:10072883) Brachydactyly 153 / 7739
23
(OMIM) Monocytes show impaired motility 1 / 7739
24
(OMIM) Narrow ear lobes 1 / 7739
25
(OMIM) Abnormally large monocytes with vacuoles 1 / 7739
26
(HPO:0001360) Holoprosencephaly 29 / 7739
27
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
28
(OMIM) Interhemispheric cyst 2 / 7739
29
(OMIM) Increased peripheral blood monocytes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Jubinsky et al. (2006) reported 3 sibs, born of nonconsanguineous Mexican parents, with holoprosencephaly (HPE), recurrent infections, and increased peripheral blood monocytes. All had microcephaly, dysmorphic facies, severe developmental delay, failure to thrive, and brachydactyly. The clinical courses ...