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MCID: HLP025
MIFTS: 25

Holoprosencephaly 9

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Endocrine diseases, Fetal diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes
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Aliases & Classifications for Holoprosencephaly 9

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MalaCards integrated aliases for Holoprosencephaly 9:

Name: Holoprosencephaly 9 57 12 75 29 6
Pituitary Anomalies with Holoprosencephaly-Like Features 57 12 75 73
Hpe9 57 12 75
Holoprosencephaly with Microphthalmia and First Branchial Arch Anomalies 57 12
Holoprosencephaly-9 75 13
Holoprosencephaly, Type 9 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
variable expressivity
incomplete penetrance


HPO:

32
holoprosencephaly 9:
Onset and clinical course variable expressivity incomplete penetrance
Inheritance autosomal dominant inheritance sporadic


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Endocrine diseases
See all MalaCards categories (disease lists)


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Summaries for Holoprosencephaly 9

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OMIM : 57 Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100). (610829)

MalaCards based summary : Holoprosencephaly 9, also known as pituitary anomalies with holoprosencephaly-like features, is related to culler-jones syndrome, and has symptoms including seizures An important gene associated with Holoprosencephaly 9 is GLI2 (GLI Family Zinc Finger 2). Affiliated tissues include pituitary and brain, and related phenotypes are malar flattening and hydrocephalus

Disease Ontology : 12 A holoprosencephaly that has material basis in heterozygous mutation in the GLI2 gene on chromosome 2q14.

UniProtKB/Swiss-Prot : 75 Holoprosencephaly 9: A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. Holoprosencephaly type 9 is characterized by defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and holoprosencephaly-like midfacial hypoplasia.

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Related Diseases for Holoprosencephaly 9

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Diseases in the Holoprosencephaly family:

Holoprosencephaly 3 Holoprosencephaly 4
Holoprosencephaly 2 Holoprosencephaly 1
Holoprosencephaly 6 Holoprosencephaly 8
Holoprosencephaly 5 Holoprosencephaly 7
Holoprosencephaly 9 Holoprosencephaly 11
Nonsyndromic Holoprosencephaly

Diseases related to Holoprosencephaly 9 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 culler-jones syndrome 11.0

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Symptoms & Phenotypes for Holoprosencephaly 9

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Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
holoprosencephaly
anterior pituitary hypoplasia
delayed psychomotor development

Head And Neck Mouth:
cleft palate
cleft lip

Head And Neck Eyes:
optic nerve hypoplasia
microphthalmia
hypotelorism
anophthalmia

Endocrine Features:
hypopituitarism

Skeletal Feet:
postaxial polydactyly

Head And Neck Nose:
flat nasal bridge
single nares

Head And Neck Ears:
prominent antihelix
first branchial arch anomalies
abnormal ears
abnormal helix
hypoplastic tragus

Head And Neck Head:
microcephaly

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Genitourinary External Genitalia Male:
micropenis

Skeletal Hands:
postaxial polydactyly

Head And Neck Face:
midface hypoplasia
temporomandibular joint abnormalities
first branchial arch anomalies

Growth Height:
short stature (in some patients)

Head And Neck Teeth:
solitary median maxillary central incisor


Clinical features from OMIM:

610829

Human phenotypes related to Holoprosencephaly 9:

32 (show all 34)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hydrocephalus 32 HP:0000238
3 seizures 32 HP:0001250
4 macrotia 32 HP:0000400
5 dental malocclusion 32 HP:0000689
6 global developmental delay 32 HP:0001263
7 depressed nasal bridge 32 HP:0005280
8 microcephaly 32 HP:0000252
9 short stature 32 occasional (7.5%) HP:0004322
10 cryptorchidism 32 HP:0000028
11 optic nerve hypoplasia 32 HP:0000609
12 short philtrum 32 HP:0000322
13 microphthalmia 32 HP:0000568
14 hypoplasia of the maxilla 32 HP:0000327
15 midface retrusion 32 HP:0011800
16 holoprosencephaly 32 HP:0001360
17 hypotelorism 32 HP:0000601
18 partial agenesis of the corpus callosum 32 HP:0001338
19 postaxial hand polydactyly 32 HP:0001162
20 anophthalmia 32 HP:0000528
21 panhypopituitarism 32 HP:0000871
22 single median maxillary incisor 32 HP:0006315
23 micropenis 32 HP:0000054
24 short hard palate 32 HP:0010290
25 bilateral cleft lip and palate 32 HP:0002744
26 hypoplasia of the premaxilla 32 HP:0010650
27 growth hormone deficiency 32 HP:0000824
28 abnormal cortical gyration 32 HP:0002536
29 single naris 32 HP:0009932
30 anterior pituitary agenesis 32 HP:0010626
31 anterior pituitary hypoplasia 32 HP:0010627
32 underdeveloped tragus 32 HP:0011272
33 prominent antihelix 32 HP:0000395
34 agenesis of incisor 32 HP:0006485

UMLS symptoms related to Holoprosencephaly 9:


seizures
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Drugs & Therapeutics for Holoprosencephaly 9

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Search Clinical Trials , NIH Clinical Center for Holoprosencephaly 9

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Genetic Tests for Holoprosencephaly 9

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Genetic tests related to Holoprosencephaly 9:

# Genetic test Affiliating Genes
1 Holoprosencephaly 9 29 GLI2
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Anatomical Context for Holoprosencephaly 9

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MalaCards organs/tissues related to Holoprosencephaly 9:

41
Pituitary, Brain
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Publications for Holoprosencephaly 9

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Variations for Holoprosencephaly 9

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ClinVar genetic disease variations for Holoprosencephaly 9:

6
(show all 41)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLI2 GLI2, 1-BP DEL, NT2274 deletion Pathogenic
2 GLI2 NM_005270.4(GLI2): c.1323G> A (p.Trp441Ter) single nucleotide variant Pathogenic rs121917707 GRCh37 Chromosome 2, 121732640: 121732640
3 GLI2 NM_005270.4(GLI2): c.1323G> A (p.Trp441Ter) single nucleotide variant Pathogenic rs121917707 GRCh38 Chromosome 2, 120975064: 120975064
4 GLI2 NM_005270.4(GLI2): c.1435C> G (p.Arg479Gly) single nucleotide variant Pathogenic rs121917708 GRCh37 Chromosome 2, 121736076: 121736076
5 GLI2 NM_005270.4(GLI2): c.1435C> G (p.Arg479Gly) single nucleotide variant Pathogenic rs121917708 GRCh38 Chromosome 2, 120978500: 120978500
6 GLI2 NM_005270.4(GLI2): c.864_865delCC (p.His289Profs) deletion Pathogenic rs398122882 GRCh37 Chromosome 2, 121727987: 121727988
7 GLI2 NM_005270.4(GLI2): c.864_865delCC (p.His289Profs) deletion Pathogenic rs398122882 GRCh38 Chromosome 2, 120970411: 120970412
8 GLI2 NM_005270.4(GLI2): c.1885G> A (p.Glu629Lys) single nucleotide variant Pathogenic rs387907277 GRCh37 Chromosome 2, 121742248: 121742248
9 GLI2 NM_005270.4(GLI2): c.1885G> A (p.Glu629Lys) single nucleotide variant Pathogenic rs387907277 GRCh38 Chromosome 2, 120984672: 120984672
10 GLI2 NM_005270.4(GLI2): c.3048C> T (p.Asp1016=) single nucleotide variant Benign/Likely benign rs140479803 GRCh37 Chromosome 2, 121746538: 121746538
11 GLI2 NM_005270.4(GLI2): c.3048C> T (p.Asp1016=) single nucleotide variant Benign/Likely benign rs140479803 GRCh38 Chromosome 2, 120988962: 120988962
12 GLI2 NM_005270.4(GLI2): c.2940C> T (p.Ser980=) single nucleotide variant Benign/Likely benign rs146811565 GRCh37 Chromosome 2, 121746430: 121746430
13 GLI2 NM_005270.4(GLI2): c.2940C> T (p.Ser980=) single nucleotide variant Benign/Likely benign rs146811565 GRCh38 Chromosome 2, 120988854: 120988854
14 GLI2 NM_005270.4(GLI2): c.4054A> G (p.Met1352Val) single nucleotide variant Benign/Likely benign rs149140724 GRCh37 Chromosome 2, 121747544: 121747544
15 GLI2 NM_005270.4(GLI2): c.4054A> G (p.Met1352Val) single nucleotide variant Benign/Likely benign rs149140724 GRCh38 Chromosome 2, 120989968: 120989968
16 GLI2 NM_005270.4(GLI2): c.1294G> A (p.Val432Met) single nucleotide variant Benign/Likely benign rs142296407 GRCh37 Chromosome 2, 121732611: 121732611
17 GLI2 NM_005270.4(GLI2): c.1294G> A (p.Val432Met) single nucleotide variant Benign/Likely benign rs142296407 GRCh38 Chromosome 2, 120975035: 120975035
18 GLI2 NM_005270.4(GLI2): c.963C> G (p.Pro321=) single nucleotide variant Benign/Likely benign rs149894186 GRCh38 Chromosome 2, 120970510: 120970510
19 GLI2 NM_005270.4(GLI2): c.963C> G (p.Pro321=) single nucleotide variant Benign/Likely benign rs149894186 GRCh37 Chromosome 2, 121728086: 121728086
20 GLI2 NM_005270.4(GLI2): c.1761G> A (p.Thr587=) single nucleotide variant Benign/Likely benign rs61732852 GRCh38 Chromosome 2, 120984548: 120984548
21 GLI2 NM_005270.4(GLI2): c.1761G> A (p.Thr587=) single nucleotide variant Benign/Likely benign rs61732852 GRCh37 Chromosome 2, 121742124: 121742124
22 GLI2 NM_005270.4(GLI2): c.3882G> A (p.Thr1294=) single nucleotide variant Benign/Likely benign rs115052795 GRCh38 Chromosome 2, 120989796: 120989796
23 GLI2 NM_005270.4(GLI2): c.3882G> A (p.Thr1294=) single nucleotide variant Benign/Likely benign rs115052795 GRCh37 Chromosome 2, 121747372: 121747372
24 GLI2 NM_005270.4(GLI2): c.2554G> A (p.Ala852Thr) single nucleotide variant Uncertain significance rs751028726 GRCh37 Chromosome 2, 121746044: 121746044
25 GLI2 NM_005270.4(GLI2): c.2554G> A (p.Ala852Thr) single nucleotide variant Uncertain significance rs751028726 GRCh38 Chromosome 2, 120988468: 120988468
26 GLI2 NM_005270.4(GLI2): c.2990C> G (p.Pro997Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs563818052 GRCh37 Chromosome 2, 121746480: 121746480
27 GLI2 NM_005270.4(GLI2): c.2990C> G (p.Pro997Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs563818052 GRCh38 Chromosome 2, 120988904: 120988904
28 GLI2 NM_005270.4(GLI2): c.891delG (p.Gln297Hisfs) deletion Pathogenic rs1057518696 GRCh37 Chromosome 2, 121728014: 121728014
29 GLI2 NM_005270.4(GLI2): c.891delG (p.Gln297Hisfs) deletion Pathogenic rs1057518696 GRCh38 Chromosome 2, 120970438: 120970438
30 GLI2 NM_005270.4(GLI2): c.3261dupC (p.Thr1088Hisfs) duplication Pathogenic rs1057518689 GRCh38 Chromosome 2, 120989175: 120989175
31 GLI2 NM_005270.4(GLI2): c.3261dupC (p.Thr1088Hisfs) duplication Pathogenic rs1057518689 GRCh37 Chromosome 2, 121746751: 121746751
32 GLI2 NM_005270.4(GLI2): c.4654A> T (p.Thr1552Ser) single nucleotide variant Likely pathogenic rs1057518657 GRCh37 Chromosome 2, 121748144: 121748144
33 GLI2 NM_005270.4(GLI2): c.4654A> T (p.Thr1552Ser) single nucleotide variant Likely pathogenic rs1057518657 GRCh38 Chromosome 2, 120990568: 120990568
34 GLI2 NM_005270.4(GLI2): c.4198G> T (p.Gly1400Cys) single nucleotide variant Uncertain significance rs143914758 GRCh38 Chromosome 2, 120990112: 120990112
35 GLI2 NM_005270.4(GLI2): c.4198G> T (p.Gly1400Cys) single nucleotide variant Uncertain significance rs143914758 GRCh37 Chromosome 2, 121747688: 121747688
36 GLI2 NM_005270.4(GLI2): c.1541A> C (p.Tyr514Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 120982738: 120982738
37 GLI2 NM_005270.4(GLI2): c.1541A> C (p.Tyr514Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 121740314: 121740314
38 GLI2 NM_005270.4(GLI2): c.4332_4333delGCinsAT (p.Met1444_Leu1445delinsIlePhe) indel Benign GRCh38 Chromosome 2, 120990246: 120990247
39 GLI2 NM_005270.4(GLI2): c.4332_4333delGCinsAT (p.Met1444_Leu1445delinsIlePhe) indel Benign GRCh37 Chromosome 2, 121747822: 121747823
40 GLI2 NM_005270.4(GLI2): c.451G> C (p.Ala151Pro) single nucleotide variant Uncertain significance rs781771721 GRCh38 Chromosome 2, 120951439: 120951439
41 GLI2 NM_005270.4(GLI2): c.451G> C (p.Ala151Pro) single nucleotide variant Uncertain significance rs781771721 GRCh37 Chromosome 2, 121709015: 121709015
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Expression for Holoprosencephaly 9

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Search GEO for disease gene expression data for Holoprosencephaly 9.
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Pathways for Holoprosencephaly 9

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GO Terms for Holoprosencephaly 9

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Sources for Holoprosencephaly 9

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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