MCID: MCR173
MIFTS: 34

Microform Holoprosencephaly

Categories: Neuronal diseases, Fetal 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:



External Ids:

Orphanet 59 ORPHA280200
ICD10 via Orphanet 34 Q04.2

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. Related phenotypes are embryo and cardiovascular system

Related Diseases for Microform Holoprosencephaly

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 holoprosencephaly 22.6 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
2 holoprosencephaly 9 11.9
3 acquired schizencephaly 10.6 SHH SIX3
4 calcifying epithelial odontogenic tumor 10.5 GLI2 PTCH1
5 holoprosencephaly 8 10.4 DISP1 TGIF1
6 nodular medulloblastoma 10.4 GLI2 PTCH1 SUFU
7 holoprosencephaly, recurrent infections, and monocytosis 10.3 GLI2 PTCH1 SIX3
8 cerebellum cancer 10.3 SHH SUFU
9 holoprosencephaly 5 10.3 TGIF1 ZIC2
10 keratocystic odontogenic tumor 10.3 PTCH1 SHH SUFU
11 bardet-biedl syndrome 17 10.2 GLI2 PTCH1 SHH
12 adult medulloblastoma 10.2 PTCH1 SHH SUFU
13 integumentary system cancer 10.2 GLI2 PTCH1 SHH
14 pallister-hall syndrome 10.2 GLI2 SHH
15 holoprosencephaly 4 10.2 SHH TGIF1 ZIC2
16 pituitary stalk interruption syndrome 10.2 CDON SHH TGIF1
17 nervous system cancer 10.2 PTCH1 SHH SUFU
18 infratentorial cancer 10.0 GLI2 PTCH1 SHH SUFU
19 steinfeld syndrome 10.0
20 holoprosencephaly 1 10.0 GAS1 SHH SIX3
21 holoprosencephaly 7 10.0 NODAL PTCH1
22 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.0 GLI2 SHH
23 duodenal obstruction 10.0 CDON NODAL
24 basal cell carcinoma 9.9 GLI2 PTCH1 SHH SUFU
25 tooth size 9.9 FGF8 SHH
26 hartsfield syndrome 9.8 FGF8 FGFR1
27 patau syndrome 9.7 DISP1 NODAL SIX3 ZIC2
28 medulloblastoma 9.6 FGFR1 GLI2 PTCH1 SHH SUFU
29 chromosome 18p deletion syndrome 9.6 NODAL SHH SIX3 ZIC2
30 congenital nervous system abnormality 9.6 NODAL SHH SIX3 ZIC2
31 muenke syndrome 9.6 FGF8 FGFR1 PTCH1
32 basal cell nevus syndrome 9.4 GAS1 GLI2 PTCH1 SHH SUFU
33 agnathia-otocephaly complex 9.1 FGF8 GLI2 NODAL SHH
34 orofacial cleft 9.0 FGF8 FGFR1 NODAL SHH
35 physical disorder 8.6 FGF8 NODAL SHH SIX3 ZIC2
36 septopreoptic holoprosencephaly 4.7 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
37 midline interhemispheric variant of holoprosencephaly 4.7 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
38 alobar holoprosencephaly 4.7 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
39 semilobar holoprosencephaly 4.4 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
40 lobar holoprosencephaly 4.4 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

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 SIX3 SUFU TDGF1 TGIF1 ZIC2 CDON
2 cardiovascular system MP:0005385 10.44 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
3 craniofacial MP:0005382 10.43 PTCH1 SHH SIX3 SUFU TGIF1 ZIC2
4 growth/size/body region MP:0005378 10.42 SUFU TGIF1 ZIC2 CDON DISP1 DLL1
5 cellular MP:0005384 10.4 FGF8 FGFR1 GAS1 GLI2 NODAL PTCH1
6 digestive/alimentary MP:0005381 10.39 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
7 mortality/aging MP:0010768 10.38 ZIC2 CDON DISP1 DLL1 FGF8 FGFR1
8 nervous system MP:0003631 10.34 SHH SIX3 SUFU TDGF1 TGIF1 ZIC2
9 behavior/neurological MP:0005386 10.3 CDON DLL1 FGF8 FGFR1 GAS1 GLI2
10 homeostasis/metabolism MP:0005376 10.3 GAS1 GLI2 NODAL PTCH1 SHH SUFU
11 limbs/digits/tail MP:0005371 10.27 SUFU TGIF1 ZIC2 CDON DISP1 DLL1
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 FOXH1 GLI2 PTCH1 SHH DISP1 DLL1
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 SIX3 SUFU TGIF1 ZIC2 CDON DISP1
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

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 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 DISP1 NM_032890.4(DISP1): c.2898G> A (p.Trp966Ter) single nucleotide variant Likely pathogenic rs749035153 GRCh38 Chromosome 1, 223004295: 223004295
2 DISP1 NM_032890.4(DISP1): c.2898G> A (p.Trp966Ter) single nucleotide variant Likely pathogenic rs749035153 GRCh37 Chromosome 1, 223177637: 223177637
3 GLI2 NM_005270.4(GLI2): c.349G> A (p.Ala117Thr) single nucleotide variant Uncertain significance rs775984106 GRCh38 Chromosome 2, 120951337: 120951337
4 GLI2 NM_005270.4(GLI2): c.349G> A (p.Ala117Thr) single nucleotide variant Uncertain significance rs775984106 GRCh37 Chromosome 2, 121708913: 121708913
5 GLI2 NM_005270.4(GLI2): c.596dupG (p.Ala200Argfs) duplication Likely pathogenic rs876661323 GRCh37 Chromosome 2, 121712959: 121712959
6 GLI2 NM_005270.4(GLI2): c.596dupG (p.Ala200Argfs) duplication Likely pathogenic rs876661323 GRCh38 Chromosome 2, 120955383: 120955383
7 GLI2 NM_005270.4(GLI2): c.790C> T (p.Arg264Ter) single nucleotide variant Likely pathogenic rs876661324 GRCh38 Chromosome 2, 120968860: 120968860
8 GLI2 NM_005270.4(GLI2): c.790C> T (p.Arg264Ter) single nucleotide variant Likely pathogenic rs876661324 GRCh37 Chromosome 2, 121726436: 121726436
9 GLI2 NM_005270.4(GLI2): c.2064delC (p.Ser690Alafs) deletion Likely pathogenic rs876661325 GRCh38 Chromosome 2, 120986385: 120986385
10 GLI2 NM_005270.4(GLI2): c.2064delC (p.Ser690Alafs) deletion Likely pathogenic rs876661325 GRCh37 Chromosome 2, 121743961: 121743961
11 GLI2 NM_005270.4(GLI2): c.2237G> A (p.Trp746Ter) single nucleotide variant Likely pathogenic rs876661326 GRCh38 Chromosome 2, 120986558: 120986558
12 GLI2 NM_005270.4(GLI2): c.2237G> A (p.Trp746Ter) single nucleotide variant Likely pathogenic rs876661326 GRCh37 Chromosome 2, 121744134: 121744134
13 GLI2 NM_005270.4(GLI2): c.4761G> C (p.Ter1587Tyr) single nucleotide variant Likely pathogenic rs876661327 GRCh38 Chromosome 2, 120990675: 120990675
14 GLI2 NM_005270.4(GLI2): c.4761G> C (p.Ter1587Tyr) single nucleotide variant Likely pathogenic rs876661327 GRCh37 Chromosome 2, 121748251: 121748251
15 FGFR1 NM_023110.2(FGFR1): c.1928G> A (p.Gly643Asp) single nucleotide variant Likely pathogenic rs876661333 GRCh37 Chromosome 8, 38272346: 38272346
16 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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.01 CDON DLL1 FGF8 FGFR1 FOXH1 GAS1
2 12.63 DLL1 FGF8 FGFR1 GLI2 PTCH1 SHH
3
Show member pathways
12.51 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 12.06 DLL1 GLI2 PTCH1 SHH SUFU TDGF1
7
Show member pathways
11.96 GLI2 PTCH1 SHH SUFU
8
Show member pathways
11.91 FGF8 FGFR1 FOXH1 GAS1 TDGF1
9 11.77 DLL1 FGF8 FGFR1
10 11.63 FGF8 FGFR1 SHH
11
Show member pathways
11.41 FOXH1 NODAL TDGF1
12 11.38 FGF8 NODAL SHH
13 11.35 FGF8 FOXH1 SHH
14
Show member pathways
11.28 CDON DISP1 GAS1 GLI2 PTCH1 SHH
15 11.22 GLI2 PTCH1 SHH
16 11.09 FGF8 GLI2 SHH
17 11.01 FGFR1 TDGF1
18
Show member pathways
10.87 CDON GAS1 GLI2 PTCH1 SHH
19 10.61 DLL1 FGF8
20 10.45 PTCH1 SHH
21 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 regulation of cell proliferation GO:0042127 9.99 FGFR1 PTCH1 SHH SIX3
2 in utero embryonic development GO:0001701 9.97 FGFR1 GLI2 NODAL PTCH1
3 brain development GO:0007420 9.97 FGFR1 NODAL PTCH1 SIX3 ZIC2
4 heart development GO:0007507 9.96 FGF8 GLI2 NODAL SHH TDGF1
5 skeletal system development GO:0001501 9.93 FGFR1 GLI2 SUFU
6 kidney development GO:0001822 9.9 FGF8 GLI2 SHH
7 multicellular organism development GO:0007275 9.9 DISP1 DLL1 FGF8 FGFR1 GLI2 NODAL
8 BMP signaling pathway GO:0030509 9.89 FGF8 NODAL TDGF1
9 positive regulation of neuron differentiation GO:0045666 9.88 CDON FGFR1 GLI2
10 negative regulation of cell differentiation GO:0045596 9.86 DLL1 NODAL SHH
11 embryonic limb morphogenesis GO:0030326 9.84 FGFR1 PTCH1 SHH
12 pattern specification process GO:0007389 9.84 GLI2 PTCH1 SHH
13 branching involved in ureteric bud morphogenesis GO:0001658 9.82 FGF8 PTCH1 SHH
14 cell fate commitment GO:0045165 9.81 FGF8 GAS1 NODAL SHH
15 mammary gland development GO:0030879 9.79 GLI2 PTCH1 TDGF1
16 anatomical structure development GO:0048856 9.78 GLI2 SHH TDGF1
17 developmental growth GO:0048589 9.77 GAS1 GLI2 SHH
18 embryonic pattern specification GO:0009880 9.77 DISP1 NODAL SHH
19 lung development GO:0030324 9.77 FGF8 FGFR1 GLI2 NODAL SHH
20 anatomical structure formation involved in morphogenesis GO:0048646 9.76 GLI2 NODAL SHH
21 dorsal/ventral pattern formation GO:0009953 9.76 DISP1 GLI2 PTCH1 SHH
22 thyroid gland development GO:0030878 9.75 FGF8 SHH
23 vasculature development GO:0001944 9.75 NODAL SHH
24 dopaminergic neuron differentiation GO:0071542 9.75 FGF8 SHH
25 limb morphogenesis GO:0035108 9.75 FGF8 PTCH1
26 negative regulation of smoothened signaling pathway GO:0045879 9.75 PTCH1 SUFU
27 proximal/distal pattern formation GO:0009954 9.75 DLL1 GLI2
28 renal system development GO:0072001 9.74 PTCH1 SHH
29 hindbrain development GO:0030902 9.74 GLI2 SHH
30 embryonic heart tube development GO:0035050 9.74 FGF8 NODAL
31 embryo development ending in birth or egg hatching GO:0009792 9.74 FGF8 TDGF1
32 lung morphogenesis GO:0060425 9.74 FGF8 SHH
33 cell fate specification GO:0001708 9.74 CDON SHH
34 regulation of smoothened signaling pathway GO:0008589 9.74 GAS1 GLI2 PTCH1
35 male genitalia development GO:0030539 9.73 FGF8 SHH
36 cell fate determination GO:0001709 9.73 DLL1 PTCH1
37 osteoblast development GO:0002076 9.73 GLI2 SHH
38 pharyngeal system development GO:0060037 9.73 FGF8 PTCH1
39 striated muscle cell differentiation GO:0051146 9.73 CDON SHH
40 embryonic morphogenesis GO:0048598 9.73 CDON SHH
41 anterior/posterior pattern specification GO:0009952 9.73 CDON FOXH1 GLI2 NODAL SHH TDGF1
42 somite development GO:0061053 9.72 PTCH1 SHH
43 generation of neurons GO:0048699 9.72 FGF8 FGFR1
44 aorta morphogenesis GO:0035909 9.72 FGF8 FOXH1
45 digestive tract morphogenesis GO:0048546 9.72 NODAL SHH
46 spinal cord motor neuron differentiation GO:0021522 9.72 GLI2 PTCH1 SHH
47 smoothened signaling pathway GO:0007224 9.72 CDON DISP1 GLI2 PTCH1 SHH
48 negative regulation of androgen receptor signaling pathway GO:0060766 9.71 FOXH1 NODAL
49 cell proliferation in forebrain GO:0021846 9.71 FGF8 SIX3
50 organ induction GO:0001759 9.71 FGF8 FGFR1

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
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