MCID: HLP004
MIFTS: 27

Holoprosencephaly, Recurrent Infections, and Monocytosis

Categories: Rare diseases

Aliases & Classifications for Holoprosencephaly, Recurrent Infections, and Monocytosis

MalaCards integrated aliases for Holoprosencephaly, Recurrent Infections, and Monocytosis:

Name: Holoprosencephaly, Recurrent Infections, and Monocytosis 57 20

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
early death due to sepsis


HPO:

31
holoprosencephaly, recurrent infections, and monocytosis:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Holoprosencephaly, Recurrent Infections, and Monocytosis

MalaCards based summary : Holoprosencephaly, Recurrent Infections, and Monocytosis is related to holoprosencephaly and brachydactyly. An important gene associated with Holoprosencephaly, Recurrent Infections, and Monocytosis is GLI2 (GLI Family Zinc Finger 2), and among its related pathways/superpathways are Translation Non-genomic (rapid) action of Androgen Receptor and Wnt / Hedgehog / Notch. Affiliated tissues include monocytes, and related phenotypes are agenesis of corpus callosum and failure to thrive

More information from OMIM: 610680

Related Diseases for Holoprosencephaly, Recurrent Infections, and Monocytosis

Diseases related to Holoprosencephaly, Recurrent Infections, and Monocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 holoprosencephaly 29.6 SIX3 PTCH1 GLI2
2 brachydactyly 10.2
3 microcephaly 10.2
4 holoprosencephaly 1 10.0 SIX3 GLI2
5 corpus callosum lipoma 9.9 SIX3 GLI2
6 cerebral hemisphere lipoma 9.9 SIX3 GLI2
7 holoprosencephaly 2 9.9 SIX3 GLI2
8 culler-jones syndrome 9.9 SIX3 GLI2
9 holoprosencephaly 3 9.9 SIX3 GLI2
10 septooptic dysplasia 9.8 SIX3 GLI2
11 hypopituitarism 9.8 SIX3 GLI2
12 calcifying epithelial odontogenic tumor 9.8 PTCH1 GLI2
13 melanotic medulloblastoma 9.8 PTCH1 GLI2
14 nodular medulloblastoma 9.8 PTCH1 GLI2
15 adult medulloblastoma 9.8 PTCH1 GLI2
16 colobomatous microphthalmia 9.8 SIX3 PTCH1
17 greig cephalopolysyndactyly syndrome 9.7 PTCH1 GLI2
18 childhood medulloblastoma 9.7 PTCH1 GLI2
19 skeletal muscle cancer 9.7 PTCH1 GLI2
20 skin benign neoplasm 9.7 PTCH1 GLI2
21 infratentorial cancer 9.7 PTCH1 GLI2
22 basal cell nevus syndrome 9.6 PTCH1 GLI2
23 ellis-van creveld syndrome 9.6 PTCH1 GLI2
24 chromosome 2q35 duplication syndrome 9.6 PTCH1 GLI2
25 coloboma of macula 9.6 SIX3 PTCH1
26 midline interhemispheric variant of holoprosencephaly 9.5 SIX3 PTCH1 GLI2
27 septopreoptic holoprosencephaly 9.5 SIX3 PTCH1 GLI2
28 holoprosencephaly 9 9.5 SIX3 PTCH1 GLI2
29 alobar holoprosencephaly 9.5 SIX3 PTCH1 GLI2
30 lobar holoprosencephaly 9.5 SIX3 PTCH1 GLI2
31 holoprosencephaly 11 9.5 SIX3 PTCH1 GLI2
32 microform holoprosencephaly 9.5 SIX3 PTCH1 GLI2
33 holoprosencephaly 7 9.5 SIX3 PTCH1 GLI2
34 holoprosencephaly 5 9.5 SIX3 PTCH1 GLI2
35 solitary median maxillary central incisor 9.5 SIX3 PTCH1 GLI2
36 semilobar holoprosencephaly 9.5 SIX3 PTCH1 GLI2
37 pallister-hall syndrome 9.5 SIX3 PTCH1 GLI2
38 congenital nervous system abnormality 9.5 SIX3 PTCH1 GLI2
39 physical disorder 9.5 SIX3 PTCH1 GLI2
40 orofacial cleft 9.5 SIX3 PTCH1 GLI2
41 microphthalmia 9.4 SIX3 PTCH1 GLI2
42 polydactyly 9.4 PTCH1 GLI2

Graphical network of the top 20 diseases related to Holoprosencephaly, Recurrent Infections, and Monocytosis:



Diseases related to Holoprosencephaly, Recurrent Infections, and Monocytosis

Symptoms & Phenotypes for Holoprosencephaly, Recurrent Infections, and Monocytosis

Human phenotypes related to Holoprosencephaly, Recurrent Infections, and Monocytosis:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 HP:0001274
2 failure to thrive 31 HP:0001508
3 abnormal facial shape 31 HP:0001999
4 microcephaly 31 HP:0000252
5 brachycephaly 31 HP:0000248
6 intellectual disability, severe 31 HP:0010864
7 cryptorchidism 31 HP:0000028
8 epicanthus 31 HP:0000286
9 short toe 31 HP:0001831
10 inverted nipples 31 HP:0003186
11 intellectual disability, progressive 31 HP:0006887
12 brachydactyly 31 HP:0001156
13 micropenis 31 HP:0000054
14 holoprosencephaly 31 HP:0001360
15 short finger 31 HP:0009381
16 tapered finger 31 HP:0001182
17 sloping forehead 31 HP:0000340
18 recurrent infections 31 HP:0002719
19 abnormality of the pinna 31 HP:0000377
20 recurrent skin infections 31 HP:0001581
21 monocytosis 31 HP:0012311

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Hands:
brachydactyly
tapering fingers

Genitourinary External Genitalia Male:
micropenis

Head And Neck Face:
sloping forehead
dysmorphic facies

Skin Nails Hair Skin:
recurrent skin infections

Head And Neck Ears:
abnormal pinnae
narrow ear lobes

Head And Neck Head:
microcephaly
brachycephaly

Chest Breasts:
inverted nipples

Skeletal Feet:
brachydactyly

Neurologic Central Nervous System:
holoprosencephaly
agenesis of the corpus callosum
mental retardation, severe
interhemispheric cysts

Immunology:
recurrent infections
monocytosis
abnormally large monocytes with vacuoles
monocytes show impaired motility

Head And Neck Eyes:
epicanthal folds

Laboratory Abnormalities:
increased peripheral blood monocytes

Clinical features from OMIM®:

610680 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Holoprosencephaly, Recurrent Infections, and Monocytosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.43 GLI2 PTCH1 SIX3
2 digestive/alimentary MP:0005381 9.33 GLI2 PTCH1 SIX3
3 respiratory system MP:0005388 9.13 GLI2 PTCH1 SIX3
4 taste/olfaction MP:0005394 8.62 PTCH1 SIX3

Drugs & Therapeutics for Holoprosencephaly, Recurrent Infections, and Monocytosis

Search Clinical Trials , NIH Clinical Center for Holoprosencephaly, Recurrent Infections, and Monocytosis

Genetic Tests for Holoprosencephaly, Recurrent Infections, and Monocytosis

Anatomical Context for Holoprosencephaly, Recurrent Infections, and Monocytosis

MalaCards organs/tissues related to Holoprosencephaly, Recurrent Infections, and Monocytosis:

40
Monocytes

Publications for Holoprosencephaly, Recurrent Infections, and Monocytosis

Articles related to Holoprosencephaly, Recurrent Infections, and Monocytosis:

# Title Authors PMID Year
1
A syndrome of holoprosencephaly, recurrent infections, and monocytosis. 57 61
17103456 2006

Variations for Holoprosencephaly, Recurrent Infections, and Monocytosis

Expression for Holoprosencephaly, Recurrent Infections, and Monocytosis

Search GEO for disease gene expression data for Holoprosencephaly, Recurrent Infections, and Monocytosis.

Pathways for Holoprosencephaly, Recurrent Infections, and Monocytosis

Pathways related to Holoprosencephaly, Recurrent Infections, and Monocytosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.72 PTCH1 GLI2
2 11.63 PTCH1 GLI2
3 11.07 PTCH1 GLI2
4 10.9 PTCH1 GLI2
5 10.75 PTCH1 GLI2
6
Show member pathways
10.43 PTCH1 GLI2
7
Show member pathways
9.9 PTCH1 GLI2

GO Terms for Holoprosencephaly, Recurrent Infections, and Monocytosis

Biological processes related to Holoprosencephaly, Recurrent Infections, and Monocytosis according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.52 SIX3 PTCH1
2 in utero embryonic development GO:0001701 9.51 PTCH1 GLI2
3 regulation of cell proliferation GO:0042127 9.49 SIX3 PTCH1
4 smoothened signaling pathway GO:0007224 9.48 PTCH1 GLI2
5 pattern specification process GO:0007389 9.46 PTCH1 GLI2
6 dorsal/ventral pattern formation GO:0009953 9.43 PTCH1 GLI2
7 mammary gland development GO:0030879 9.4 PTCH1 GLI2
8 pituitary gland development GO:0021983 9.37 SIX3 GLI2
9 negative regulation of smoothened signaling pathway GO:0045879 9.32 PTCH1 GLI2
10 spinal cord motor neuron differentiation GO:0021522 9.26 PTCH1 GLI2
11 dorsal/ventral neural tube patterning GO:0021904 9.16 PTCH1 GLI2
12 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 8.96 PTCH1 GLI2
13 mammary gland duct morphogenesis GO:0060603 8.62 PTCH1 GLI2

Sources for Holoprosencephaly, Recurrent Infections, and Monocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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