HPE-L
MCID: MCR173
MIFTS: 47

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 59 6
Holoprosencéphalie, Minor Form 59
Holoprosencephaly-Like 59
Hpe, Minor Form 59
Microform Hpe 59
Hpe-L 59

Characteristics:

Orphanet epidemiological data:

59
microform holoprosencephaly
Inheritance: Multigenic/multifactorial; Age of onset: Infancy,Neonatal; Age of death: adult;

Classifications:



Summaries for Microform Holoprosencephaly

MalaCards based summary : Microform Holoprosencephaly, also known as holoprosenc├ęphalie, minor form, is related to holoprosencephaly and holoprosencephaly 9. 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 heart, pituitary and thyroid, and related phenotypes are agenesis of corpus callosum and hypothyroidism

Related Diseases for Microform Holoprosencephaly

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

(show all 45)
# Related Disease Score Top Affiliating Genes
1 holoprosencephaly 28.3 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
2 holoprosencephaly 9 12.0
3 steinfeld syndrome 10.2
4 tooth size 10.1 FGF8 SHH
5 hartsfield syndrome 10.1 FGF8 FGFR1
6 albinism, oculocutaneous, type v 10.1 SHH SUFU
7 duodenal obstruction 10.1 CDON NODAL
8 pallister-hall syndrome 10.1 GLI2 SHH
9 calcifying epithelial odontogenic tumor 10.1 GLI2 PTCH1
10 focal epithelial hyperplasia 10.1 FGF8 GLI2 SHH
11 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.1 GLI2 SHH
12 nodular medulloblastoma 10.1 GLI2 PTCH1 SUFU
13 holoprosencephaly 7 10.1 NODAL PTCH1
14 greig cephalopolysyndactyly syndrome 10.0 GLI2 PTCH1 SHH
15 holoprosencephaly 8 10.0 DISP1 TGIF1
16 bardet-biedl syndrome 17 10.0 GLI2 PTCH1 SHH
17 keratocystic odontogenic tumor 10.0 PTCH1 SHH SUFU
18 adult medulloblastoma 10.0 PTCH1 SHH SUFU
19 central nervous system cancer 10.0 PTCH1 SHH SUFU
20 acquired schizencephaly 10.0 SHH SIX3
21 agnathia-otocephaly complex 10.0 FGF8 GLI2 NODAL SHH
22 pituitary stalk interruption syndrome 10.0 CDON SHH TGIF1
23 albinism, oculocutaneous, type vii 10.0 SHH SUFU
24 muenke syndrome 10.0 FGF8 FGFR1 PTCH1
25 infratentorial cancer 10.0 GLI2 PTCH1 SHH SUFU
26 orofacial cleft 10.0 FGF8 FGFR1 NODAL SHH
27 brachydactyly, type a1 9.9 CDON GAS1 PTCH1 SHH
28 langerhans cell histiocytosis 9.9
29 histiocytosis 9.9
30 holoprosencephaly 5 9.9 TGIF1 ZIC2
31 basal cell carcinoma 9.9 GLI2 PTCH1 SHH SUFU
32 holoprosencephaly 1 9.9 GAS1 SHH SIX3
33 holoprosencephaly 4 9.9 SHH TGIF1 ZIC2
34 medulloblastoma 9.9 FGFR1 GLI2 PTCH1 SHH SUFU
35 holoprosencephaly, recurrent infections, and monocytosis 9.9 GLI2 PTCH1 SIX3
36 basal cell nevus syndrome 9.9 GAS1 GLI2 PTCH1 SHH SUFU
37 patau syndrome 9.8 NODAL SIX3 ZIC2
38 chromosome 18p deletion syndrome 9.7 NODAL SHH SIX3 ZIC2
39 congenital nervous system abnormality 9.7 NODAL SHH SIX3 ZIC2
40 physical disorder 9.6 FGF8 NODAL SHH SIX3 ZIC2
41 septopreoptic holoprosencephaly 8.3 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
42 midline interhemispheric variant of holoprosencephaly 8.3 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
43 alobar holoprosencephaly 8.3 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
44 semilobar holoprosencephaly 8.2 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
45 lobar holoprosencephaly 8.2 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1

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:

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
2 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
3 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
4 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
5 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
6 short nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0003196
7 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
8 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
9 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
10 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
11 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
12 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
13 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
14 tetralogy of fallot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001636
15 choanal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000453
16 asthma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002099
17 hypoplasia of penis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008736
18 holoprosencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001360
19 narrow nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000446
20 hypotelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000601
21 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
22 ambiguous genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000062
23 tented upper lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0010804
24 premature birth 59 32 frequent (33%) Frequent (79-30%) HP:0001622
25 panhypopituitarism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000871
26 single median maxillary incisor 59 32 hallmark (90%) Very frequent (99-80%) HP:0006315
27 cyclopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0009914
28 maternal diabetes 59 32 occasional (7.5%) Occasional (29-5%) HP:0009800
29 renal agenesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000104
30 duodenal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002247
31 hemangioma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001028
32 midnasal stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0010644
33 malformation of the heart and great vessels 59 Occasional (29-5%)
34 emg: myopathic abnormalities 59 Occasional (29-5%)
35 oral cleft 59 Occasional (29-5%)
36 emg 32 occasional (7.5%) HP:0003458

MGI Mouse Phenotypes related to Microform Holoprosencephaly:

46 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.47 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
2 cardiovascular system MP:0005385 10.44 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
3 craniofacial MP:0005382 10.43 CDON DISP1 FGF8 FGFR1 FOXH1 GAS1
4 growth/size/body region MP:0005378 10.42 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
5 cellular MP:0005384 10.4 CDON DISP1 DLL1 FGF8 FGFR1 GAS1
6 digestive/alimentary MP:0005381 10.39 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
7 mortality/aging MP:0010768 10.38 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
8 nervous system MP:0003631 10.34 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
9 behavior/neurological MP:0005386 10.3 CDON DLL1 FGF8 FGFR1 GAS1 GLI2
10 homeostasis/metabolism MP:0005376 10.3 DISP1 DLL1 FGF8 FGFR1 FOXH1 GAS1
11 limbs/digits/tail MP:0005371 10.27 CDON DISP1 DLL1 FGF8 FGFR1 GAS1
12 hearing/vestibular/ear MP:0005377 10.19 DLL1 FGF8 FGFR1 FOXH1 GAS1 GLI2
13 normal MP:0002873 10.18 DISP1 DLL1 FGF8 FGFR1 FOXH1 GLI2
14 endocrine/exocrine gland MP:0005379 10.16 DISP1 DLL1 FGF8 FGFR1 FOXH1 GLI2
15 immune system MP:0005387 10.16 DLL1 FGF8 FGFR1 FOXH1 NODAL PTCH1
16 muscle MP:0005369 10.11 DISP1 DLL1 FGF8 FGFR1 FOXH1 GLI2
17 respiratory system MP:0005388 10.03 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
18 skeleton MP:0005390 10.03 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
19 no phenotypic analysis MP:0003012 9.95 FGFR1 FOXH1 GLI2 NODAL PTCH1 SHH
20 renal/urinary system MP:0005367 9.8 DLL1 FGF8 FGFR1 FOXH1 PTCH1 SHH
21 vision/eye MP:0005391 9.5 CDON DISP1 FGF8 FGFR1 FOXH1 GAS1
22 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:

41
Heart, Pituitary, Thyroid

Publications for Microform Holoprosencephaly

Articles related to Microform Holoprosencephaly:

# Title Authors Year
1
Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome. ( 26728615 )
2016
2
Dicentric Chromosome 14;18 Plus Two Additional CNVs in a Girl with Microform Holoprosencephaly and Turner Stigmata. ( 24778566 )
2013
3
High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly. ( 23112757 )
2012
4
Microform holoprosencephaly in mice that lack the Ig superfamily member Cdon. ( 12620190 )
2003

Variations for Microform Holoprosencephaly

ClinVar genetic disease variations for Microform Holoprosencephaly:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 SUFU NM_016169.3(SUFU): c.1022C> T (p.Pro341Leu) single nucleotide variant Uncertain significance rs587778699 GRCh38 Chromosome 10, 102599544: 102599544
2 SUFU NM_016169.3(SUFU): c.1022C> T (p.Pro341Leu) single nucleotide variant Uncertain significance rs587778699 GRCh37 Chromosome 10, 104359301: 104359301
3 DISP1 NM_032890.4(DISP1): c.2898G> A (p.Trp966Ter) single nucleotide variant Likely pathogenic rs749035153 GRCh38 Chromosome 1, 223004295: 223004295
4 DISP1 NM_032890.4(DISP1): c.2898G> A (p.Trp966Ter) single nucleotide variant Likely pathogenic rs749035153 GRCh37 Chromosome 1, 223177637: 223177637
5 GLI2 NM_005270.4(GLI2): c.349G> A (p.Ala117Thr) single nucleotide variant Uncertain significance rs775984106 GRCh38 Chromosome 2, 120951337: 120951337
6 GLI2 NM_005270.4(GLI2): c.349G> A (p.Ala117Thr) single nucleotide variant Uncertain significance rs775984106 GRCh37 Chromosome 2, 121708913: 121708913
7 GLI2 NM_005270.4(GLI2): c.596dupG (p.Ala200Argfs) duplication Likely pathogenic rs876661323 GRCh37 Chromosome 2, 121712959: 121712959
8 GLI2 NM_005270.4(GLI2): c.596dupG (p.Ala200Argfs) duplication Likely pathogenic rs876661323 GRCh38 Chromosome 2, 120955383: 120955383
9 GLI2 NM_005270.4(GLI2): c.790C> T (p.Arg264Ter) single nucleotide variant Likely pathogenic rs876661324 GRCh38 Chromosome 2, 120968860: 120968860
10 GLI2 NM_005270.4(GLI2): c.790C> T (p.Arg264Ter) single nucleotide variant Likely pathogenic rs876661324 GRCh37 Chromosome 2, 121726436: 121726436
11 GLI2 NM_005270.4(GLI2): c.2064delC (p.Ser690Alafs) deletion Likely pathogenic rs876661325 GRCh38 Chromosome 2, 120986385: 120986385
12 GLI2 NM_005270.4(GLI2): c.2064delC (p.Ser690Alafs) deletion Likely pathogenic rs876661325 GRCh37 Chromosome 2, 121743961: 121743961
13 GLI2 NM_005270.4(GLI2): c.2237G> A (p.Trp746Ter) single nucleotide variant Likely pathogenic rs876661326 GRCh38 Chromosome 2, 120986558: 120986558
14 GLI2 NM_005270.4(GLI2): c.2237G> A (p.Trp746Ter) single nucleotide variant Likely pathogenic rs876661326 GRCh37 Chromosome 2, 121744134: 121744134
15 GLI2 NM_005270.4(GLI2): c.4761G> C (p.Ter1587Tyr) single nucleotide variant Likely pathogenic rs876661327 GRCh38 Chromosome 2, 120990675: 120990675
16 GLI2 NM_005270.4(GLI2): c.4761G> C (p.Ter1587Tyr) single nucleotide variant Likely pathogenic rs876661327 GRCh37 Chromosome 2, 121748251: 121748251
17 FGFR1 NM_023110.2(FGFR1): c.1928G> A (p.Gly643Asp) single nucleotide variant Likely pathogenic rs876661333 GRCh37 Chromosome 8, 38272346: 38272346
18 FGFR1 NM_023110.2(FGFR1): c.1928G> A (p.Gly643Asp) single nucleotide variant Likely pathogenic rs876661333 GRCh38 Chromosome 8, 38414828: 38414828

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 CDON DLL1 FGF8 FGFR1 FOXH1 GAS1
2 12.63 DLL1 FGF8 FGFR1 GLI2 PTCH1 SHH
3
Show member pathways
12.53 FGF8 FGFR1 GAS1 TDGF1
4
Show member pathways
12.42 CDON GAS1 GLI2 PTCH1 SHH SUFU
5
Show member pathways
12.28 DLL1 FGF8 FGFR1 FOXH1 GLI2 NODAL
6
Show member pathways
12.11 FGF8 FGFR1 GAS1 TDGF1
7 12.06 DLL1 GLI2 PTCH1 SHH SUFU TDGF1
8
Show member pathways
11.96 GLI2 PTCH1 SHH SUFU
9
Show member pathways
11.91 FGF8 FGFR1 FOXH1 GAS1 TDGF1
10 11.78 DLL1 FGF8 FGFR1
11 11.63 FGF8 FGFR1 SHH
12 11.58 FGF8 FGFR1 GAS1 TDGF1
13
Show member pathways
11.41 FOXH1 NODAL TDGF1
14 11.38 FGF8 NODAL SHH
15 11.35 FGF8 FOXH1 SHH
16
Show member pathways
11.28 CDON DISP1 GAS1 GLI2 PTCH1 SHH
17 11.22 GLI2 PTCH1 SHH
18 11.09 FGF8 GLI2 SHH
19 11.03 FGFR1 TDGF1
20
Show member pathways
10.83 CDON GAS1 GLI2 PTCH1 SHH
21 10.62 DLL1 FGF8
22 10.45 PTCH1 SHH
23 10.41 FGF8 NODAL SHH TGIF1

GO Terms for Microform Holoprosencephaly

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

(show top 50) (show all 78)
# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.98 FGFR1 NODAL PTCH1 SIX3 ZIC2
2 in utero embryonic development GO:0001701 9.97 FGFR1 GLI2 NODAL PTCH1
3 heart development GO:0007507 9.97 FGF8 GLI2 NODAL SHH TDGF1
4 regulation of cell proliferation GO:0042127 9.96 FGFR1 PTCH1 SHH SIX3
5 multicellular organism development GO:0007275 9.96 DISP1 DLL1 FGF8 GLI2 NODAL SHH
6 skeletal system development GO:0001501 9.93 FGFR1 GLI2 SUFU
7 kidney development GO:0001822 9.9 FGF8 GLI2 SHH
8 positive regulation of neuron differentiation GO:0045666 9.88 CDON FGFR1 GLI2
9 BMP signaling pathway GO:0030509 9.87 FGF8 NODAL TDGF1
10 pattern specification process GO:0007389 9.86 GLI2 PTCH1 SHH
11 negative regulation of cell differentiation GO:0045596 9.85 DLL1 NODAL SHH
12 embryonic limb morphogenesis GO:0030326 9.84 FGFR1 PTCH1 SHH
13 smoothened signaling pathway GO:0007224 9.83 CDON GLI2 PTCH1 SHH
14 branching involved in ureteric bud morphogenesis GO:0001658 9.81 FGF8 PTCH1 SHH
15 cell fate commitment GO:0045165 9.81 FGF8 GAS1 NODAL SHH
16 mammary gland development GO:0030879 9.79 GLI2 PTCH1 TDGF1
17 developmental growth GO:0048589 9.78 GAS1 GLI2 SHH
18 regulation of smoothened signaling pathway GO:0008589 9.77 GAS1 GLI2 PTCH1
19 anatomical structure formation involved in morphogenesis GO:0048646 9.77 GLI2 NODAL SHH
20 lung development GO:0030324 9.77 FGF8 FGFR1 GLI2 NODAL SHH
21 dorsal/ventral pattern formation GO:0009953 9.76 DISP1 GLI2 PTCH1 SHH
22 positive regulation of mesenchymal cell proliferation GO:0002053 9.75 FGFR1 SHH
23 vasculature development GO:0001944 9.75 NODAL SHH
24 thyroid gland development GO:0030878 9.75 FGF8 SHH
25 negative regulation of smoothened signaling pathway GO:0045879 9.75 PTCH1 SUFU
26 proximal/distal pattern formation GO:0009954 9.75 DLL1 GLI2
27 limb morphogenesis GO:0035108 9.75 FGF8 PTCH1
28 renal system development GO:0072001 9.74 PTCH1 SHH
29 dopaminergic neuron differentiation GO:0071542 9.74 FGF8 SHH
30 embryo development ending in birth or egg hatching GO:0009792 9.74 FGF8 TDGF1
31 hindbrain development GO:0030902 9.74 GLI2 SHH
32 lung morphogenesis GO:0060425 9.74 FGF8 SHH
33 embryonic heart tube development GO:0035050 9.74 FGF8 NODAL
34 cell fate specification GO:0001708 9.74 CDON SHH
35 embryonic pattern specification GO:0009880 9.74 DISP1 NODAL SHH
36 male genitalia development GO:0030539 9.73 FGF8 SHH
37 osteoblast development GO:0002076 9.73 GLI2 SHH
38 cell fate determination GO:0001709 9.73 DLL1 PTCH1
39 pharyngeal system development GO:0060037 9.73 FGF8 PTCH1
40 embryonic morphogenesis GO:0048598 9.73 CDON SHH
41 spinal cord motor neuron differentiation GO:0021522 9.73 GLI2 PTCH1 SHH
42 somite development GO:0061053 9.72 PTCH1 SHH
43 aorta morphogenesis GO:0035909 9.72 FGF8 FOXH1
44 digestive tract morphogenesis GO:0048546 9.72 NODAL SHH
45 negative regulation of androgen receptor signaling pathway GO:0060766 9.72 FOXH1 NODAL
46 prostate gland development GO:0030850 9.72 PTCH1 SHH
47 striated muscle cell differentiation GO:0051146 9.71 CDON SHH
48 generation of neurons GO:0048699 9.71 FGF8 FGFR1
49 cell proliferation in forebrain GO:0021846 9.71 FGF8 SIX3
50 dorsal/ventral neural tube patterning GO:0021904 9.71 GLI2 PTCH1 SHH

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 FOXH1 TGIF1
2 patched binding GO:0005113 8.96 PTCH1 SHH
3 morphogen activity GO:0016015 8.62 NODAL SHH

Sources for Microform Holoprosencephaly

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
Content
Loading form....