MIH
MCID: MDL020
MIFTS: 44

Midline Interhemispheric Variant of Holoprosencephaly (MIH)

Categories: Endocrine diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Midline Interhemispheric Variant of Holoprosencephaly

MalaCards integrated aliases for Midline Interhemispheric Variant of Holoprosencephaly:

Name: Midline Interhemispheric Variant of Holoprosencephaly 58
Middle Interhemispheric Variant of Holoprosencephaly 58
Middle Interhemispheric Fusion Variant 58
Syntelencephaly 58
Mih Type Hpe 58
Mihf 58
Mihv 58
Mih 58

Characteristics:

Orphanet epidemiological data:

58
midline interhemispheric variant of holoprosencephaly
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Midline Interhemispheric Variant of Holoprosencephaly

MalaCards based summary : Midline Interhemispheric Variant of Holoprosencephaly, also known as middle interhemispheric variant of holoprosencephaly, is related to holoprosencephaly 1 and cleft palate, isolated. An important gene associated with Midline Interhemispheric Variant of Holoprosencephaly is CDON (Cell Adhesion Associated, Oncogene Regulated), and among its related pathways/superpathways are Pathways in cancer and Signaling by Hedgehog. Affiliated tissues include brain, heart and lung, and related phenotypes are failure to thrive and short stature

Related Diseases for Midline Interhemispheric Variant of Holoprosencephaly

Diseases related to Midline Interhemispheric Variant of Holoprosencephaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 holoprosencephaly 1 30.1 ZIC2 SIX3 SHH GLI2 GAS1 FGF8
2 cleft palate, isolated 29.8 SHH PTCH1 GLI2 FGF8
3 holoprosencephaly 27.6 ZIC2 TGIF1 TDGF1 SIX3 SHH PTCH1
4 nonsyndromic holoprosencephaly 10.9
5 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.3
6 polymicrogyria 10.3
7 dental caries 10.3
8 hypertelorism 10.2
9 alacrima, achalasia, and mental retardation syndrome 10.2
10 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.2
11 spasmodic dystonia 10.2
12 hypospadias 10.2
13 dissociative disorder 10.2
14 spastic diplegia 10.2
15 atypical depressive disorder 10.2
16 cerebral palsy 10.2
17 post-traumatic stress disorder 10.2
18 dystonia 10.2
19 acute stress disorder 10.2
20 spasmodic dysphonia 10.2
21 spastic diplegia cerebral palsy 10.2
22 spasticity 10.2
23 monosomy 21 10.2
24 tooth size 10.1 SHH FGF8
25 calcifying epithelial odontogenic tumor 10.1 PTCH1 GLI2
26 hair whorl 10.1
27 holoprosencephaly 8 10.0 ZIC2 DISP1 CDON
28 polydactyly, preaxial ii 10.0 SHH PTCH1
29 breast cancer 10.0
30 otitis media 10.0
31 papillomatosis, confluent and reticulated 10.0
32 allergic disease 10.0
33 double outlet right ventricle 10.0 NODAL FOXH1 FGF8
34 cerebellum cancer 10.0 SHH PTCH1
35 central nervous system lipoma 10.0 ZIC2 SIX3
36 mycobacterium tuberculosis 1 10.0
37 cerebellar medulloblastoma 10.0 SHH PTCH1
38 anus, imperforate 10.0 SHH GLI2 FGF8
39 brachydactyly, type a1 10.0 SHH PTCH1 CDON
40 keratocystic odontogenic tumor 9.9 SHH PTCH1
41 melanotic medulloblastoma 9.9 SHH PTCH1 GLI2
42 nodular medulloblastoma 9.9 SHH PTCH1 GLI2
43 schizencephaly 9.9
44 plagiocephaly 9.9
45 adult medulloblastoma 9.9 SHH PTCH1 GLI2
46 greig cephalopolysyndactyly syndrome 9.9 SHH PTCH1 GLI2
47 holoprosencephaly, recurrent infections, and monocytosis 9.9 SIX3 PTCH1 GLI2
48 skeletal muscle cancer 9.9 SHH PTCH1 GLI2
49 apnea, obstructive sleep 9.9
50 sleep apnea 9.9

Graphical network of the top 20 diseases related to Midline Interhemispheric Variant of Holoprosencephaly:



Diseases related to Midline Interhemispheric Variant of Holoprosencephaly

Symptoms & Phenotypes for Midline Interhemispheric Variant of Holoprosencephaly

Human phenotypes related to Midline Interhemispheric Variant of Holoprosencephaly:

58 31 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 hypotelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000601
4 poor suck 58 31 hallmark (90%) Very frequent (99-80%) HP:0002033
5 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
6 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
7 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
8 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
9 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
10 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
11 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
12 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
13 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
14 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
15 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
16 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
17 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
18 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
19 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
20 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
21 lethargy 58 31 frequent (33%) Frequent (79-30%) HP:0001254
22 median cleft lip 58 31 frequent (33%) Frequent (79-30%) HP:0000161
23 bifid uvula 58 31 frequent (33%) Frequent (79-30%) HP:0000193
24 aspiration pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0011951
25 apathy 58 31 frequent (33%) Frequent (79-30%) HP:0000741
26 limb dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0002451
27 central apnea 58 31 frequent (33%) Frequent (79-30%) HP:0002871
28 abnormality of the autonomic nervous system 58 31 frequent (33%) Frequent (79-30%) HP:0002270
29 inability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0002540
30 cerebral visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100704
31 abnormality of brainstem morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002363
32 temperature instability 58 31 frequent (33%) Frequent (79-30%) HP:0005968
33 chronic lung disease 58 31 frequent (33%) Frequent (79-30%) HP:0006528
34 abnormal hypothalamus physiology 58 31 frequent (33%) Frequent (79-30%) HP:0012285
35 oromotor apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0007301
36 sleep-wake cycle disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0006979
37 neural tube defect 58 31 frequent (33%) Frequent (79-30%) HP:0045005
38 aplasia of the falx cerebri 58 31 frequent (33%) Frequent (79-30%) HP:0010654
39 abnormal morphology of the olfactory bulb 58 31 frequent (33%) Frequent (79-30%) HP:0040327
40 seizure 31 frequent (33%) HP:0001250
41 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
42 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
43 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
44 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
45 flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0001371
46 diabetes insipidus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000873
47 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
48 panhypopituitarism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000871
49 single median maxillary incisor 58 31 occasional (7.5%) Occasional (29-5%) HP:0006315
50 cyclopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0009914

MGI Mouse Phenotypes related to Midline Interhemispheric Variant of Holoprosencephaly:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.37 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
2 cardiovascular system MP:0005385 10.35 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
3 cellular MP:0005384 10.34 CDON DISP1 DLL1 FGF8 GAS1 GLI2
4 craniofacial MP:0005382 10.33 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
5 growth/size/body region MP:0005378 10.31 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
6 digestive/alimentary MP:0005381 10.28 CDON DISP1 DLL1 FGF8 FOXH1 GLI2
7 mortality/aging MP:0010768 10.28 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
8 behavior/neurological MP:0005386 10.27 CDON DLL1 FGF8 GAS1 GLI2 NODAL
9 nervous system MP:0003631 10.21 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
10 limbs/digits/tail MP:0005371 10.16 CDON DISP1 DLL1 FGF8 GAS1 GLI2
11 endocrine/exocrine gland MP:0005379 10.11 DISP1 DLL1 FGF8 FOXH1 GLI2 PTCH1
12 hearing/vestibular/ear MP:0005377 10.08 DLL1 FGF8 FOXH1 GAS1 GLI2 PTCH1
13 normal MP:0002873 10.06 DISP1 DLL1 FGF8 FOXH1 GLI2 NODAL
14 respiratory system MP:0005388 10.03 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
15 muscle MP:0005369 10.01 DISP1 DLL1 FGF8 FOXH1 GLI2 NODAL
16 skeleton MP:0005390 9.97 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
17 vision/eye MP:0005391 9.44 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
18 taste/olfaction MP:0005394 9.35 NODAL PTCH1 SHH SIX3 TGIF1

Drugs & Therapeutics for Midline Interhemispheric Variant of Holoprosencephaly

Search Clinical Trials , NIH Clinical Center for Midline Interhemispheric Variant of Holoprosencephaly

Genetic Tests for Midline Interhemispheric Variant of Holoprosencephaly

Anatomical Context for Midline Interhemispheric Variant of Holoprosencephaly

MalaCards organs/tissues related to Midline Interhemispheric Variant of Holoprosencephaly:

40
Brain, Heart, Lung, Olfactory Bulb, Hypothalamus, Eye

Publications for Midline Interhemispheric Variant of Holoprosencephaly

Articles related to Midline Interhemispheric Variant of Holoprosencephaly:

(show all 23)
# Title Authors PMID Year
1
Prenatal diagnosis of middle interhemispheric variant of holoprosencephaly: review of literature and prenatal case series. 61
33455493 2021
2
Semilobar Holoprosencephaly: Capacious Anomaly in the Cephalad. 61
32802616 2020
3
Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation. 61
32695376 2020
4
Syntelencephaly associated with cystic cochleovestibular malformations. 61
26755615 2016
5
Postnatal Diagnosis of a Baby With Multiple Rare Congenital Anomalies Including Syngnathia, Brain Dysmorphism, and Skin Pigmentation. 61
25325328 2015
6
Middle Interhemispheric Variant of Holoprosencephaly - Presenting as Non-Visualized Cavum Septum Pellucidum and An Interhemispheric Cyst in A 19-Weeks Fetus. 61
26500966 2015
7
Middle interhemispheric variant of holoprosencephaly: A rare midline malformation. 61
26557166 2015
8
Holoprosencephaly: a survey of the entity, with embryology and fetal imaging. 61
25590404 2015
9
Distortion of the anterior part of the interhemispheric fissure: significance and implications for prenatal diagnosis. 61
23640781 2014
10
Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene. 61
24550762 2014
11
Chiari II malformation and syntelencephaly in a young woman: coincidence or pathogenetic association? 61
23263291 2013
12
Teaching NeuroImages: Syntelencephaly: Middle interhemispheric fusion. 61
22946121 2012
13
Syntelencephaly: postnatal sonographic detection of a subtle case. 61
20523979 2010
14
The cavum septi pellucidi: why is it important? 61
20194938 2010
15
Neuropathology of holoprosencephaly. 61
20104606 2010
16
Recent studies on neural tube defects in embryos of diabetic pregnancy: an overview. 61
19519395 2009
17
Holoprosencephaly. 61
17274816 2007
18
Holoprosencephaly: clinical, anatomic, and molecular dimensions. 61
17001700 2006
19
[MR scanning of cerebrum in the investigation of delayed development in children. Syntelencephaly--is it really so rare?]. 61
12362834 2002
20
Unusual variant of holoprosencephaly in monosomy 13q. 61
11910512 2002
21
Syntelencephaly presenting with spastic diplegia. 61
11071147 2000
22
Syntelencephaly associated with connected transhemispheric cleft of focal cortical dysplasia. 61
10371387 1999
23
Syntelencephaly in an infant of a diabetic mother. 61
8989462 1996

Variations for Midline Interhemispheric Variant of Holoprosencephaly

Expression for Midline Interhemispheric Variant of Holoprosencephaly

Search GEO for disease gene expression data for Midline Interhemispheric Variant of Holoprosencephaly.

Pathways for Midline Interhemispheric Variant of Holoprosencephaly

Pathways related to Midline Interhemispheric Variant of Holoprosencephaly according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1 12.66 SHH PTCH1 GLI2 FGF8 DLL1
2
Show member pathways
12.37 SHH PTCH1 GLI2 GAS1 CDON
3
Show member pathways
12.22 ZIC2 NODAL GLI2 FOXH1 FGF8 DLL1
4 11.98 TDGF1 SHH PTCH1 GLI2 DLL1
5
Show member pathways
11.4 TDGF1 NODAL FOXH1
6 11.37 SHH NODAL FGF8
7 11.33 SHH FOXH1 FGF8
8 11.3 SHH PTCH1 GLI2
9 11.22 SHH PTCH1 GLI2
10 11.06 SHH GLI2 FGF8
11
Show member pathways
10.87 SHH PTCH1 GLI2 GAS1 CDON
12 10.85 SHH PTCH1 GLI2 GAS1 DISP1 CDON
13
Show member pathways
10.82 SHH PTCH1 GLI2
14 10.6 FGF8 DLL1
15 10.45 SHH PTCH1
16 10.41 TGIF1 SHH NODAL FGF8

GO Terms for Midline Interhemispheric Variant of Holoprosencephaly

Biological processes related to Midline Interhemispheric Variant of Holoprosencephaly according to GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.14 ZIC2 TDGF1 GLI2 FGF8 DLL1
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.11 SIX3 SHH NODAL GLI2 FOXH1 DLL1
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.1 TGIF1 SHH PTCH1 NODAL GLI2 FOXH1
4 positive regulation of transcription, DNA-templated GO:0045893 10.09 ZIC2 SHH PTCH1 GLI2 FOXH1
5 positive regulation of cell proliferation GO:0008284 10 TDGF1 SHH NODAL GLI2 FGF8 DLL1
6 brain development GO:0007420 9.96 ZIC2 SIX3 PTCH1 NODAL
7 multicellular organism development GO:0007275 9.92 ZIC2 SIX3 SHH NODAL GLI2 FGF8
8 kidney development GO:0001822 9.89 SHH GLI2 FGF8
9 heart development GO:0007507 9.88 TDGF1 SHH NODAL GLI2 FGF8
10 anatomical structure development GO:0048856 9.81 TDGF1 SHH GLI2
11 negative regulation of cell differentiation GO:0045596 9.81 SHH NODAL DLL1
12 lung development GO:0030324 9.81 SHH NODAL GLI2 FGF8
13 pattern specification process GO:0007389 9.79 SHH PTCH1 GLI2
14 branching involved in ureteric bud morphogenesis GO:0001658 9.77 SHH PTCH1 FGF8
15 branching involved in blood vessel morphogenesis GO:0001569 9.74 SHH FGF8
16 pituitary gland development GO:0021983 9.74 SIX3 GLI2
17 embryonic hindlimb morphogenesis GO:0035116 9.74 SHH FGF8
18 hair follicle morphogenesis GO:0031069 9.74 SHH GLI2
19 telencephalon development GO:0021537 9.74 SIX3 FGF8
20 branching morphogenesis of an epithelial tube GO:0048754 9.74 SHH GLI2
21 negative regulation of smoothened signaling pathway GO:0045879 9.73 PTCH1 GLI2
22 vasculature development GO:0001944 9.73 SHH NODAL
23 proximal/distal pattern formation GO:0009954 9.73 GLI2 DLL1
24 limb morphogenesis GO:0035108 9.73 PTCH1 FGF8
25 dopaminergic neuron differentiation GO:0071542 9.73 SHH FGF8
26 thyroid gland development GO:0030878 9.73 SHH FGF8
27 mammary gland development GO:0030879 9.73 TDGF1 PTCH1 GLI2
28 cell fate commitment GO:0045165 9.73 SHH NODAL GAS1 FGF8
29 embryo development ending in birth or egg hatching GO:0009792 9.72 TDGF1 FGF8
30 regulation of smoothened signaling pathway GO:0008589 9.72 PTCH1 GAS1
31 lung morphogenesis GO:0060425 9.72 SHH FGF8
32 embryonic morphogenesis GO:0048598 9.72 SHH CDON
33 embryonic pattern specification GO:0009880 9.72 SHH NODAL DISP1
34 striated muscle cell differentiation GO:0051146 9.71 SHH CDON
35 hindbrain development GO:0030902 9.71 SHH GLI2
36 cell fate determination GO:0001709 9.71 PTCH1 DLL1
37 pharyngeal system development GO:0060037 9.71 PTCH1 FGF8
38 male genitalia development GO:0030539 9.71 SHH FGF8
39 developmental growth GO:0048589 9.71 SHH GLI2 GAS1
40 smoothened signaling pathway GO:0007224 9.71 SHH PTCH1 GLI2 CDON
41 osteoblast development GO:0002076 9.7 SHH GLI2
42 somite development GO:0061053 9.7 SHH PTCH1
43 embryonic heart tube development GO:0035050 9.7 NODAL FGF8
44 aorta morphogenesis GO:0035909 9.7 FOXH1 FGF8
45 negative regulation of androgen receptor signaling pathway GO:0060766 9.69 NODAL FOXH1
46 digestive tract morphogenesis GO:0048546 9.69 SHH NODAL
47 prostate gland development GO:0030850 9.68 SHH PTCH1
48 branching involved in salivary gland morphogenesis GO:0060445 9.68 SHH FGF8
49 smooth muscle tissue development GO:0048745 9.68 SHH PTCH1
50 cell proliferation in forebrain GO:0021846 9.68 SIX3 FGF8

Molecular functions related to Midline Interhemispheric Variant of Holoprosencephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.43 TDGF1 NODAL FGF8
2 co-SMAD binding GO:0070410 9.16 TGIF1 FOXH1
3 patched binding GO:0005113 8.96 SHH PTCH1
4 morphogen activity GO:0016015 8.62 SHH NODAL

Sources for Midline Interhemispheric Variant of Holoprosencephaly

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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