HPE-L
MCID: MCR173
MIFTS: 44

Microform Holoprosencephaly (HPE-L)

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Microform Holoprosencephaly

MalaCards integrated aliases for Microform Holoprosencephaly:

Name: Microform Holoprosencephaly 58 6
Holoprosencephaly, Minor Form 58
Holoprosencephaly-Like 58
Hpe, Minor Form 58
Microform Hpe 58
Hpe-L 58

Characteristics:

Orphanet epidemiological data:

58
microform holoprosencephaly
Inheritance: Multigenic/multifactorial; Age of onset: Infancy,Neonatal; Age of death: adult;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Microform Holoprosencephaly

MalaCards based summary : Microform Holoprosencephaly, also known as holoprosencephaly, minor form, is related to holoprosencephaly 9 and hypopituitarism. An important gene associated with Microform Holoprosencephaly is GLI2 (GLI Family Zinc Finger 2), and among its related pathways/superpathways are Signaling by GPCR and Pathways in cancer. Affiliated tissues include brain and heart, and related phenotypes are choanal atresia and single median maxillary incisor

Related Diseases for Microform Holoprosencephaly

Diseases related to Microform Holoprosencephaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 91)
# Related Disease Score Top Affiliating Genes
1 holoprosencephaly 9 30.9 ZIC2 SIX3 SHH PTCH1 GLI2 FOXH1
2 hypopituitarism 29.5 SIX3 SHH GLI2
3 basal cell nevus syndrome 29.1 SUFU SHH PTCH1 GLI2 GAS1 CDON
4 holoprosencephaly 3 29.1 ZIC2 SIX3 SHH GLI2 DISP1
5 culler-jones syndrome 28.4 ZIC2 TGIF1 SIX3 SHH GLI2 CDON
6 solitary median maxillary central incisor 27.1 ZIC2 TGIF1 SIX3 SHH PTCH1 NODAL
7 holoprosencephaly 7 27.0 ZIC2 TDGF1 SIX3 SHH PTCH1 NODAL
8 holoprosencephaly 26.4 ZIC2 TGIF1 TDGF1 SUFU SIX3 SHH
9 alobar holoprosencephaly 26.3 ZIC2 TGIF1 TDGF1 SIX3 SHH PTCH1
10 lobar holoprosencephaly 25.8 ZIC2 TGIF1 TDGF1 SIX3 SHH PTCH1
11 nonsyndromic holoprosencephaly 11.2
12 hartsfield syndrome 10.2 FGFR1 FGF8
13 calcifying epithelial odontogenic tumor 10.2 PTCH1 GLI2
14 ovary leiomyosarcoma 10.2 SUFU PTCH1
15 alacrima, achalasia, and mental retardation syndrome 10.2
16 basal cell carcinoma, infundibulocystic 10.2 SUFU PTCH1
17 tooth size 10.2 SHH FGF8
18 megaesophagus 10.1 FGFR1 CDON
19 medullomyoblastoma 10.1 SUFU SHH
20 childhood medulloblastoma 10.1 SUFU PTCH1 GLI2
21 deafness, autosomal recessive 71 10.1 FGFR1 FGF8
22 holoprosencephaly 8 10.1 ZIC2 DISP1 CDON
23 cleft lip 10.1
24 cleft lip/palate 10.1
25 polydactyly, preaxial ii 10.1 SHH PTCH1
26 anus, imperforate 10.1 SHH GLI2 FGF8
27 steinfeld syndrome 10.1
28 gonadal dysgenesis 10.1
29 turner syndrome 10.1
30 large cell medulloblastoma 10.0 SUFU SHH
31 apert syndrome 10.0 SHH FGFR1 FGF8
32 cerebellum cancer 10.0 SHH PTCH1
33 crouzon syndrome 10.0 SHH FGFR1 FGF8
34 cerebellar medulloblastoma 10.0 SHH PTCH1
35 central nervous system lipoma 10.0 ZIC2 SIX3
36 bone development disease 10.0 SHH FGFR1 FGF8
37 greig cephalopolysyndactyly syndrome 10.0 SHH PTCH1 GLI2
38 brachydactyly, type a1 10.0 SHH PTCH1 CDON
39 double outlet right ventricle 10.0 NODAL FOXH1 FGF8
40 keratocystic odontogenic tumor 10.0 SUFU SHH PTCH1
41 holoprosencephaly, recurrent infections, and monocytosis 10.0 SIX3 PTCH1 GLI2
42 focal dermal hypoplasia 10.0 SUFU SHH PTCH1
43 skeletal muscle cancer 10.0 SHH PTCH1 GLI2
44 tumoral calcinosis, hyperphosphatemic, familial, 1 10.0 SHH PTCH1 FGFR1
45 synostosis 9.9 SHH FGFR1 FGF8
46 diabetes mellitus, neonatal, with congenital hypothyroidism 9.9 SUFU SHH
47 renal hypodysplasia/aplasia 1 9.9 SHH FGFR1 FGF8
48 orofaciodigital syndrome viii 9.9 ZIC2 SIX3 DISP1
49 melanotic medulloblastoma 9.9 SUFU SHH PTCH1 GLI2
50 nodular medulloblastoma 9.9 SUFU SHH PTCH1 GLI2

Graphical network of the top 20 diseases related to Microform Holoprosencephaly:



Diseases related to Microform Holoprosencephaly

Symptoms & Phenotypes for Microform Holoprosencephaly

Human phenotypes related to Microform Holoprosencephaly:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 choanal atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000453
2 single median maxillary incisor 58 31 hallmark (90%) Very frequent (99-80%) HP:0006315
3 midnasal stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0010644
4 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
5 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
6 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
7 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
8 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
9 narrow nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000446
10 hypotelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000601
11 premature birth 58 31 frequent (33%) Frequent (79-30%) HP:0001622
12 tented upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0010804
13 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
14 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
15 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
16 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
17 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
18 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
19 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
20 emg: myopathic abnormalities 58 31 occasional (7.5%) Occasional (29-5%) HP:0003458
21 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
22 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
23 holoprosencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001360
24 asthma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002099
25 hypoplasia of penis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008736
26 hemangioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001028
27 ambiguous genitalia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000062
28 panhypopituitarism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000871
29 cyclopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0009914
30 maternal diabetes 58 31 occasional (7.5%) Occasional (29-5%) HP:0009800
31 duodenal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002247
32 renal agenesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000104
33 seizure 31 occasional (7.5%) HP:0001250
34 seizures 58 Occasional (29-5%)
35 malformation of the heart and great vessels 58 Occasional (29-5%)
36 oral cleft 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Microform Holoprosencephaly:

46 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.46 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
2 cardiovascular system MP:0005385 10.44 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
3 craniofacial MP:0005382 10.42 CDON DISP1 FGF8 FGFR1 FOXH1 GAS1
4 growth/size/body region MP:0005378 10.41 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
5 cellular MP:0005384 10.4 CDON DISP1 DLL1 FGF8 FGFR1 GAS1
6 behavior/neurological MP:0005386 10.38 CDON DLL1 FGF8 FGFR1 GAS1 GLI2
7 digestive/alimentary MP:0005381 10.38 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
8 mortality/aging MP:0010768 10.36 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
9 nervous system MP:0003631 10.31 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
10 homeostasis/metabolism MP:0005376 10.29 DISP1 DLL1 FGF8 FGFR1 FOXH1 GAS1
11 limbs/digits/tail MP:0005371 10.26 CDON DISP1 DLL1 FGF8 FGFR1 GAS1
12 endocrine/exocrine gland MP:0005379 10.2 DISP1 DLL1 FGF8 FGFR1 FOXH1 GLI2
13 immune system MP:0005387 10.19 DLL1 FGF8 FGFR1 FOXH1 NODAL PTCH1
14 hearing/vestibular/ear MP:0005377 10.18 DLL1 FGF8 FGFR1 FOXH1 GAS1 GLI2
15 normal MP:0002873 10.13 DISP1 DLL1 FGF8 FGFR1 FOXH1 GLI2
16 muscle MP:0005369 10.09 DISP1 DLL1 FGF8 FGFR1 FOXH1 GLI2
17 respiratory system MP:0005388 10.07 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
18 skeleton MP:0005390 10.03 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
19 no phenotypic analysis MP:0003012 9.91 FGFR1 FOXH1 GLI2 NODAL PTCH1 SHH
20 vision/eye MP:0005391 9.5 CDON DISP1 FGF8 FGFR1 FOXH1 GAS1
21 taste/olfaction MP:0005394 9.35 NODAL PTCH1 SHH SIX3 TGIF1

Drugs & Therapeutics for Microform Holoprosencephaly

Search Clinical Trials , NIH Clinical Center for Microform Holoprosencephaly

Genetic Tests for Microform Holoprosencephaly

Anatomical Context for Microform Holoprosencephaly

MalaCards organs/tissues related to Microform Holoprosencephaly:

40
Brain, Heart

Publications for Microform Holoprosencephaly

Articles related to Microform Holoprosencephaly:

# Title Authors PMID Year
1
Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome. 61
26728615 2016
2
Holoprosencephaly: a survey of the entity, with embryology and fetal imaging. 61
25590404 2015
3
A 13-year-old boy with a 7q36.1q36.3 deletion with additional findings. 61
25257745 2015
4
Boc modifies the spectrum of holoprosencephaly in the absence of Gas1 function. 61
25063195 2014
5
Dicentric Chromosome 14;18 Plus Two Additional CNVs in a Girl with Microform Holoprosencephaly and Turner Stigmata. 61
24778566 2013
6
High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly. 61
23112757 2012
7
Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patients. 61
22503063 2012
8
Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog. 61
17525797 2007
9
Microform holoprosencephaly in mice that lack the Ig superfamily member Cdon. 61
12620190 2003

Variations for Microform Holoprosencephaly

ClinVar genetic disease variations for Microform Holoprosencephaly:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GLI2 NM_001374353.1(GLI2):c.790C>T (p.Arg264Ter) SNV Likely pathogenic 235076 rs876661324 GRCh37: 2:121726436-121726436
GRCh38: 2:120968860-120968860
2 GLI2 NM_001374353.1(GLI2):c.4710G>C (p.Ter1570Tyr) SNV Likely pathogenic 235079 rs876661327 GRCh37: 2:121748251-121748251
GRCh38: 2:120990675-120990675
3 DISP1 NM_032890.5(DISP1):c.2898G>A (p.Trp966Ter) SNV Likely pathogenic 235093 rs749035153 GRCh37: 1:223177637-223177637
GRCh38: 1:223004295-223004295
4 GLI2 NM_001374353.1(GLI2):c.2013del (p.Ser673fs) Deletion Likely pathogenic 235077 rs876661325 GRCh37: 2:121743959-121743959
GRCh38: 2:120986383-120986383
5 GLI2 NM_001374353.1(GLI2):c.596dup (p.Ala200fs) Duplication Likely pathogenic 235075 rs876661323 GRCh37: 2:121712954-121712955
GRCh38: 2:120955378-120955379
6 GLI2 NM_001374353.1(GLI2):c.2186G>A (p.Trp729Ter) SNV Likely pathogenic 235078 rs876661326 GRCh37: 2:121744134-121744134
GRCh38: 2:120986558-120986558
7 FGFR1 NM_023110.2(FGFR1):c.1928G>A (p.Gly643Asp) SNV Likely pathogenic 235086 rs876661333 GRCh37: 8:38272346-38272346
GRCh38: 8:38414828-38414828
8 SUFU NM_016169.3(SUFU):c.1022C>T (p.Pro341Leu) SNV Uncertain significance 135281 rs587778699 GRCh37: 10:104359301-104359301
GRCh38: 10:102599544-102599544
9 GLI2 NM_001374353.1(GLI2):c.349G>A (p.Ala117Thr) SNV Uncertain significance 235074 rs775984106 GRCh37: 2:121708913-121708913
GRCh38: 2:120951337-120951337

Expression for Microform Holoprosencephaly

Search GEO for disease gene expression data for Microform Holoprosencephaly.

Pathways for Microform Holoprosencephaly

Pathways related to Microform Holoprosencephaly according to GeneCards Suite gene sharing:

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.01 TGIF1 SUFU SHH PTCH1 GLI2 GAS1
2 12.67 SUFU SHH PTCH1 GLI2 FGFR1 FGF8
3
Show member pathways
12.53 TDGF1 GAS1 FGFR1 FGF8
4
Show member pathways
12.47 SUFU SHH PTCH1 GLI2 GAS1 CDON
5
Show member pathways
12.28 ZIC2 NODAL GLI2 FOXH1 FGFR1 FGF8
6
Show member pathways
12.17 SUFU SHH PTCH1 GLI2
7
Show member pathways
12.12 TDGF1 GAS1 FGFR1 FGF8
8 12.11 TDGF1 SUFU SHH PTCH1 GLI2 DLL1
9 11.78 FGFR1 FGF8 DLL1
10 11.64 SHH FGFR1 FGF8
11 11.59 TDGF1 GAS1 FGFR1 FGF8
12
Show member pathways
11.41 TDGF1 NODAL FOXH1
13 11.38 SHH NODAL FGF8
14 11.38 SUFU SHH PTCH1 GLI2
15 11.35 SHH FOXH1 FGF8
16 11.26 SHH PTCH1 GLI2
17 11.13 SHH GLI2 FGF8
18 10.92 SUFU SHH PTCH1 GLI2 GAS1 DISP1
19
Show member pathways
10.9 SUFU SHH PTCH1 GLI2
20
Show member pathways
10.87 SHH PTCH1 GLI2 GAS1 CDON
21 10.63 FGF8 DLL1
22 10.46 SHH PTCH1
23 10.41 TGIF1 SHH NODAL FGF8

GO Terms for Microform Holoprosencephaly

Biological processes related to Microform Holoprosencephaly according to GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.17 SIX3 SHH NODAL GLI2 FOXH1 DLL1
2 positive regulation of transcription, DNA-templated GO:0045893 10.11 ZIC2 SHH PTCH1 GLI2 FOXH1
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.09 TGIF1 SUFU SHH PTCH1 NODAL GLI2
4 multicellular organism development GO:0007275 10.02 ZIC2 SUFU SIX3 SHH NODAL GLI2
5 brain development GO:0007420 9.99 ZIC2 SIX3 PTCH1 NODAL
6 positive regulation of cell proliferation GO:0008284 9.98 TDGF1 SHH NODAL GLI2 FGFR1 FGF8
7 heart development GO:0007507 9.92 TDGF1 SHH NODAL GLI2 FGF8
8 skeletal system development GO:0001501 9.91 SUFU GLI2 FGFR1
9 kidney development GO:0001822 9.91 SHH GLI2 FGF8
10 positive regulation of neuron differentiation GO:0045666 9.87 GLI2 FGFR1 CDON
11 negative regulation of DNA-binding transcription factor activity GO:0043433 9.86 SUFU PTCH1 FOXH1
12 anatomical structure development GO:0048856 9.84 TDGF1 SHH GLI2
13 lung development GO:0030324 9.84 SHH NODAL GLI2 FGF8
14 negative regulation of cell differentiation GO:0045596 9.83 SHH NODAL DLL1
15 pattern specification process GO:0007389 9.82 SHH PTCH1 GLI2
16 positive regulation of cell differentiation GO:0045597 9.81 SHH FGFR1 FGF8
17 branching involved in ureteric bud morphogenesis GO:0001658 9.8 SHH PTCH1 FGF8
18 cell fate commitment GO:0045165 9.78 SHH NODAL GAS1 FGF8
19 smoothened signaling pathway GO:0007224 9.77 SUFU SHH PTCH1 GLI2 CDON
20 mammary gland development GO:0030879 9.76 TDGF1 PTCH1 GLI2
21 embryonic pattern specification GO:0009880 9.75 SHH NODAL DISP1
22 limb morphogenesis GO:0035108 9.74 PTCH1 FGF8
23 dopaminergic neuron differentiation GO:0071542 9.74 SHH FGF8
24 thyroid gland development GO:0030878 9.74 SHH FGF8
25 embryo development ending in birth or egg hatching GO:0009792 9.74 TDGF1 FGF8
26 developmental growth GO:0048589 9.74 SHH GLI2 GAS1
27 regulation of smoothened signaling pathway GO:0008589 9.73 PTCH1 GAS1
28 lung morphogenesis GO:0060425 9.73 SHH FGF8
29 embryonic morphogenesis GO:0048598 9.73 SHH CDON
30 striated muscle cell differentiation GO:0051146 9.73 SHH CDON
31 negative regulation of smoothened signaling pathway GO:0045879 9.73 SUFU PTCH1 GLI2
32 anterior/posterior pattern specification GO:0009952 9.73 TDGF1 SHH NODAL GLI2 FOXH1 CDON
33 hindbrain development GO:0030902 9.72 SHH GLI2
34 cell fate determination GO:0001709 9.72 PTCH1 DLL1
35 pharyngeal system development GO:0060037 9.72 PTCH1 FGF8
36 male genitalia development GO:0030539 9.72 SHH FGF8
37 osteoblast development GO:0002076 9.72 SHH GLI2
38 somite development GO:0061053 9.71 SHH PTCH1
39 embryonic heart tube development GO:0035050 9.71 NODAL FGF8
40 aorta morphogenesis GO:0035909 9.71 FOXH1 FGF8
41 negative regulation of androgen receptor signaling pathway GO:0060766 9.71 NODAL FOXH1
42 digestive tract morphogenesis GO:0048546 9.7 SHH NODAL
43 prostate gland development GO:0030850 9.7 SHH PTCH1
44 branching involved in salivary gland morphogenesis GO:0060445 9.7 SHH FGF8
45 smooth muscle tissue development GO:0048745 9.69 SHH PTCH1
46 cell proliferation in forebrain GO:0021846 9.69 SIX3 FGF8
47 spinal cord motor neuron differentiation GO:0021522 9.69 SHH PTCH1 GLI2
48 metanephric collecting duct development GO:0072205 9.68 SHH PTCH1
49 nodal signaling pathway GO:0038092 9.68 TDGF1 NODAL
50 positive regulation of T cell differentiation in thymus GO:0033089 9.68 SHH GLI2

Molecular functions related to Microform Holoprosencephaly according to GeneCards Suite gene sharing:

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

Sources for Microform 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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