MCID: HLP004
MIFTS: 33

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 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
early death due to sepsis


HPO:

32
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 calcifying epithelial odontogenic tumor. An important gene associated with Holoprosencephaly, Recurrent Infections, and Monocytosis is GLI2 (GLI Family Zinc Finger 2), and among its related pathways/superpathways are Signaling by Hedgehog and Wnt / Hedgehog / Notch. Affiliated tissues include monocytes and skin, and related phenotypes are agenesis of corpus callosum and failure to thrive

Description from OMIM: 610680

Related Diseases for Holoprosencephaly, Recurrent Infections, and Monocytosis

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

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Skeletal Hands:
brachydactyly
tapering fingers

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

Head And Neck Face:
sloping forehead
dysmorphic facies

Genitourinary External Genitalia Male:
micropenis

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

Skin Nails Hair Skin:
recurrent skin infections

Head And Neck Eyes:
epicanthal folds

Laboratory Abnormalities:
increased peripheral blood monocytes


Clinical features from OMIM:

610680

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

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 HP:0001274
2 failure to thrive 32 HP:0001508
3 abnormal facial shape 32 HP:0001999
4 microcephaly 32 HP:0000252
5 brachycephaly 32 HP:0000248
6 intellectual disability, severe 32 HP:0010864
7 epicanthus 32 HP:0000286
8 cryptorchidism 32 HP:0000028
9 short toe 32 HP:0001831
10 inverted nipples 32 HP:0003186
11 abnormality of the pinna 32 HP:0000377
12 intellectual disability, progressive 32 HP:0006887
13 brachydactyly 32 HP:0001156
14 recurrent infections 32 HP:0002719
15 holoprosencephaly 32 HP:0001360
16 short finger 32 HP:0009381
17 tapered finger 32 HP:0001182
18 sloping forehead 32 HP:0000340
19 recurrent skin infections 32 HP:0001581
20 micropenis 32 HP:0000054
21 monocytosis 32 HP:0012311

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.54 GLI2 PTCH1 SIX3
2 digestive/alimentary MP:0005381 9.5 GLI2 PTCH1 SIX3
3 embryo MP:0005380 9.43 GLI2 PTCH1 SIX3
4 respiratory system MP:0005388 9.33 GLI2 PTCH1 SIX3
5 taste/olfaction MP:0005394 8.96 SIX3 PTCH1
6 vision/eye MP:0005391 8.8 GLI2 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:

41
Monocytes, Skin

Publications for Holoprosencephaly, Recurrent Infections, and Monocytosis

Articles related to Holoprosencephaly, Recurrent Infections, and Monocytosis:

# Title Authors Year
1
A syndrome of holoprosencephaly, recurrent infections, and monocytosis. ( 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

GO Terms for Holoprosencephaly, Recurrent Infections, and Monocytosis

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

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 8.62 GLI2 PTCH1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell proliferation GO:0042127 9.55 PTCH1 SIX3
2 brain development GO:0007420 9.54 PTCH1 SIX3
3 in utero embryonic development GO:0001701 9.52 GLI2 PTCH1
4 response to mechanical stimulus GO:0009612 9.51 GLI2 PTCH1
5 smoothened signaling pathway GO:0007224 9.49 GLI2 PTCH1
6 pattern specification process GO:0007389 9.48 GLI2 PTCH1
7 dorsal/ventral pattern formation GO:0009953 9.46 GLI2 PTCH1
8 mammary gland development GO:0030879 9.43 GLI2 PTCH1
9 pituitary gland development GO:0021983 9.4 GLI2 SIX3
10 regulation of smoothened signaling pathway GO:0008589 9.37 GLI2 PTCH1
11 spinal cord motor neuron differentiation GO:0021522 9.32 GLI2 PTCH1
12 prostate gland development GO:0030850 9.26 GLI2 PTCH1
13 dorsal/ventral neural tube patterning GO:0021904 9.16 GLI2 PTCH1
14 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 8.96 GLI2 PTCH1
15 mammary gland duct morphogenesis GO:0060603 8.62 GLI2 PTCH1

Sources for Holoprosencephaly, Recurrent Infections, and Monocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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