Holoprosencephaly 9 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

HPE9 MCID: HLP025 MIFTS: 50	Holoprosencephaly 9 (HPE9) Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Holoprosencephaly 9

MalaCards integrated aliases for Holoprosencephaly 9:

Name: Holoprosencephaly 9 ⁵⁷ ¹² ⁷² ²⁹ ⁶ ¹⁵

Pituitary Anomalies with Holoprosencephaly-Like Features ⁵⁷ ¹² ⁷² ⁷⁰

Hpe9 ⁵⁷ ¹² ⁷²

Holoprosencephaly with Microphthalmia and First Branchial Arch Anomalies ⁵⁷ ¹²

Holoprosencephaly-9 ⁷² ¹³

Holoprosencephaly, Type 9 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Miscellaneous:
variable expressivity
incomplete penetrance
variable phenotype

Inheritance:
autosomal dominant

HPO:

³¹

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Endocrine diseases Eye diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110873

OMIM® ⁵⁷ 610829

OMIM Phenotypic Series ⁵⁷ PS236100

MeSH ⁴⁴ D016142

MedGen ⁴¹ C1835819

UMLS ⁷⁰ C1835819

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Summaries for Holoprosencephaly 9

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) (Updated 20-May-2021)

MalaCards based summary : Holoprosencephaly 9, also known as pituitary anomalies with holoprosencephaly-like features, is related to culler-jones syndrome and central nervous system lipoma, and has symptoms including seizures An important gene associated with Holoprosencephaly 9 is GLI2 (GLI Family Zinc Finger 2), and among its related pathways/superpathways are Signaling by Hedgehog and Mesodermal Commitment Pathway. Affiliated tissues include pituitary, eye and cerebellum, and related phenotypes are short stature and hydrocephalus

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

UniProtKB/Swiss-Prot : ⁷² 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

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:

(show top 50) (show all 61)

#	Related Disease	Score	Top Affiliating Genes
1	culler-jones syndrome	30.4	ZIC2 SIX3 SHH GLI2 CDON
2	central nervous system lipoma	10.1	ZIC2 SIX3
3	chromosome 18p deletion syndrome	10.1	ZIC2 SIX3
4	calcifying epithelial odontogenic tumor	10.0	PTCH1 GLI2
5	childhood medulloblastoma	9.9	PTCH1 GLI2
6	orofaciodigital syndrome viii	9.9	ZIC2 SIX3 DISP1
7	holoprosencephaly 8	9.9	ZIC2 DISP1 CDON
8	anus, imperforate	9.9	SHH GLI2
9	skin benign neoplasm	9.8	PTCH1 GLI2
10	holoprosencephaly, recurrent infections, and monocytosis	9.8	SIX3 PTCH1 GLI2
11	esophageal atresia	9.8	SHH GLI2
12	schizencephaly	9.8	SIX3 SHH
13	polydactyly, preaxial ii	9.8	SHH PTCH1
14	cerebellum cancer	9.7	SHH PTCH1
15	fetal alcohol spectrum disorder	9.7	SHH CDON
16	cerebellar medulloblastoma	9.7	SHH PTCH1
17	keratocystic odontogenic tumor	9.7	SHH PTCH1
18	focal dermal hypoplasia	9.7	SHH PTCH1
19	septooptic dysplasia	9.7	SIX3 SHH GLI2
20	tumoral calcinosis, hyperphosphatemic, familial, 1	9.7	SHH PTCH1
21	hypopituitarism	9.7	SIX3 SHH GLI2
22	melanotic medulloblastoma	9.6	SHH PTCH1 GLI2
23	nodular medulloblastoma	9.6	SHH PTCH1 GLI2
24	adult medulloblastoma	9.6	SHH PTCH1 GLI2
25	greig cephalopolysyndactyly syndrome	9.6	SHH PTCH1 GLI2
26	skeletal muscle cancer	9.6	SHH PTCH1 GLI2
27	infratentorial cancer	9.6	SHH PTCH1 GLI2
28	ellis-van creveld syndrome	9.6	SHH PTCH1 GLI2
29	polydactyly	9.6	SHH PTCH1 GLI2
30	chromosome 2q35 duplication syndrome	9.6	SHH PTCH1 GLI2
31	colobomatous microphthalmia	9.5	SIX3 SHH PTCH1
32	brachydactyly, type a1	9.5	SHH PTCH1 CDON
33	anencephaly	9.5	SIX3 SHH
34	corpus callosum lipoma	9.5	ZIC2 SIX3 SHH GLI2
35	cerebral hemisphere lipoma	9.5	ZIC2 SIX3 SHH GLI2
36	cleft palate, isolated	9.4	SHH PTCH1 GLI2
37	microphthalmia	9.3	SIX3 SHH PTCH1 GLI2
38	basal cell carcinoma	9.3	SHH PTCH1 GLI2
39	basal cell nevus syndrome	9.3	SHH PTCH1 GLI2 CDON
40	holoprosencephaly 3	9.3	ZIC2 SIX3 SHH GLI2 DISP1
41	holoprosencephaly 1	9.2	ZIC2 SIX3 SHH GLI2 CDON
42	patau syndrome	9.2	ZIC2 SIX3 SHH FOXH1 DISP1
43	physical disorder	9.2	ZIC2 SIX3 SHH PTCH1 GLI2
44	orofacial cleft	9.1	ZIC2 SIX3 SHH PTCH1 GLI2
45	coloboma of macula	9.1	ZIC2 SIX3 SHH PTCH1 CDON
46	microcephaly	9.0	ZIC2 SHH PTCH1 GLI2 CDON
47	holoprosencephaly 2	9.0	ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
48	holoprosencephaly 4	8.9	ZIC2 SIX3 SHH FOXH1 DISP1 CDON
49	pallister-hall syndrome	8.9	ZIC2 SIX3 SHH PTCH1 GLI2 CDON
50	congenital nervous system abnormality	8.9	ZIC2 SIX3 SHH PTCH1 GLI2 CDON

Graphical network of the top 20 diseases related to Holoprosencephaly 9:

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Symptoms & Phenotypes for Holoprosencephaly 9

Human phenotypes related to Holoprosencephaly 9:

³¹ (show all 34)

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

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

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

Head And Neck Mouth:
cleft palate
cleft lip

Genitourinary External Genitalia Male:
micropenis

Endocrine Features:
hypopituitarism

Skeletal Feet:
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 Head:
microcephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Eyes:
anophthalmia
microphthalmia
hypotelorism
optic nerve hypoplasia

Skeletal Hands:
postaxial polydactyly

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

Head And Neck Nose:
flat nasal bridge
single nares

Head And Neck Teeth:
solitary median maxillary central incisor

Clinical features from OMIM®:

610829 (Updated 20-May-2021)

UMLS symptoms related to Holoprosencephaly 9:

seizures

MGI Mouse Phenotypes related to Holoprosencephaly 9:

⁴⁶ (show all 16)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial	MP:0005382	10.15	CDON DISP1 FOXH1 GLI2 PTCH1 SHH
2	digestive/alimentary	MP:0005381	10.14	CDON DISP1 FOXH1 GLI2 PTCH1 SHH
3	embryo	MP:0005380	10.13	CDON DISP1 FOXH1 GLI2 PTCH1 SHH
4	growth/size/body region	MP:0005378	10.1	CDON DISP1 FOXH1 GLI2 PTCH1 SHH
5	cardiovascular system	MP:0005385	10.03	CDON DISP1 FOXH1 PTCH1 SHH ZIC2
6	mortality/aging	MP:0010768	10.03	CDON DISP1 FOXH1 GLI2 PTCH1 SHH
7	endocrine/exocrine gland	MP:0005379	9.99	DISP1 FOXH1 GLI2 PTCH1 SHH ZIC2
8	nervous system	MP:0003631	9.97	CDON DISP1 FOXH1 GLI2 PTCH1 SHH
9	limbs/digits/tail	MP:0005371	9.93	CDON DISP1 GLI2 PTCH1 SHH ZIC2
10	respiratory system	MP:0005388	9.86	CDON DISP1 FOXH1 GLI2 PTCH1 SHH
11	muscle	MP:0005369	9.8	DISP1 FOXH1 GLI2 PTCH1 SHH
12	normal	MP:0002873	9.8	DISP1 FOXH1 GLI2 PTCH1 SHH ZIC2
13	hearing/vestibular/ear	MP:0005377	9.78	FOXH1 GLI2 PTCH1 SHH
14	skeleton	MP:0005390	9.76	CDON DISP1 FOXH1 GLI2 PTCH1 SHH
15	vision/eye	MP:0005391	9.23	CDON DISP1 FOXH1 GLI2 PTCH1 SHH
16	taste/olfaction	MP:0005394	9.13	PTCH1 SHH SIX3

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Drugs & Therapeutics for Holoprosencephaly 9

Search Clinical Trials , NIH Clinical Center for Holoprosencephaly 9

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Genetic Tests for Holoprosencephaly 9

Genetic tests related to Holoprosencephaly 9:

#	Genetic test	Affiliating Genes
1	Holoprosencephaly 9 ²⁹	GLI2

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Anatomical Context for Holoprosencephaly 9

MalaCards organs/tissues related to Holoprosencephaly 9:

⁴⁰

Pituitary, Eye, Cerebellum, Skeletal Muscle, Skin

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Publications for Holoprosencephaly 9

Articles related to Holoprosencephaly 9:

#	Title	Authors	PMID	Year
1	Clinical findings in patients with GLI2 mutations--phenotypic variability. ⁵⁷ ⁶	Bertolacini CD...Murray JC	21204792	2012
2	GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? ⁶ ⁵⁷	Rahimov F...Murray JC	17096318	2006
3	Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. ⁵⁷ ⁶	Roessler E...Muenke M	14581620	2003
4	Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications. ⁶	Kremer Hovinga ICL...Paulussen ADC	29876959	2018
5	Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. ⁶	Franca MM...Arnhold IJ	20685856	2010
6	Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder. ⁵⁷	Guion-Almeida ML...Zechi-Ceide RM	18049080	2008
7	Holoprosencephaly with microphthalmia, hypoplastic ears, vertebral segmentation defects, and congenital heart defects. ⁵⁷	Ribeiro LA...Richieri-Costa A	15971260	2005
8	A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2. ⁶	Roessler E...Muenke M	15994174	2005
9	Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases. ⁵⁷	Blaas HG...Eik-Nes SH	11851965	2002

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Genes for Holoprosencephaly 9

Genes related to Holoprosencephaly 9 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GLI2	GLI Family Zinc Finger 2	Protein Coding	1050.52	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	14581620 15994174 20685856
2	DISP1	Dispatched RND Transporter Family Member 1	Protein Coding	7.64	DISEASES inferred ¹⁵
3	ZIC2	Zic Family Member 2	Protein Coding	6.79	DISEASES inferred ¹⁵
4	SIX3	SIX Homeobox 3	Protein Coding	6.77	DISEASES inferred ¹⁵
5	FOXH1	Forkhead Box H1	Protein Coding	6.54	DISEASES inferred ¹⁵
6	PTCH1	Patched 1	Protein Coding	5.88	DISEASES inferred ¹⁵
7	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	5.7	DISEASES inferred ¹⁵
8	CDON	Cell Adhesion Associated, Oncogene Regulated	Protein Coding	5.68	DISEASES inferred ¹⁵

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Variations for Holoprosencephaly 9

ClinVar genetic disease variations for Holoprosencephaly 9:

⁶ (show top 50) (show all 228)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	GLI2	GLI2, 1-BP DEL, NT2274	Deletion	Pathogenic	13834		GRCh37: GRCh38:
2	GLI2	NM_001374353.1(GLI2):c.1272G>A (p.Trp424Ter)	SNV	Pathogenic	13835	rs121917707	GRCh37: 2:121732640-121732640 GRCh38: 2:120975064-120975064
3	GLI2	NM_001374353.1(GLI2):c.1384C>G (p.Arg462Gly)	SNV	Pathogenic	13836	rs121917708	GRCh37: 2:121736076-121736076 GRCh38: 2:120978500-120978500
4	GLI2	NM_001374353.1(GLI2):c.864_865del (p.His289fs)	Deletion	Pathogenic	37082	rs398122882	GRCh37: 2:121727984-121727985 GRCh38: 2:120970408-120970409
5	GLI2	NM_001374353.1(GLI2):c.3210dup (p.Thr1071fs)	Duplication	Pathogenic	374313	rs1057518689	GRCh37: 2:121746748-121746749 GRCh38: 2:120989172-120989173
6	GLI2	NM_001374353.1(GLI2):c.891del (p.Gln297fs)	Deletion	Pathogenic	374323	rs1057518696	GRCh37: 2:121728014-121728014 GRCh38: 2:120970438-120970438
7	GLI2	NM_001374353.1(GLI2):c.192dup (p.Asp65Ter)	Duplication	Pathogenic	573009	rs1388607733	GRCh37: 2:121684978-121684979 GRCh38: 2:120927402-120927403
8	GLI2	NM_001374353.1(GLI2):c.322del (p.Ala108fs)	Deletion	Pathogenic	520904	rs1553471273	GRCh37: 2:121708885-121708885 GRCh38: 2:120951309-120951309
9	GLI2	NM_001374353.1(GLI2):c.3567del (p.Gln1189fs)	Deletion	Pathogenic	863253		GRCh37: 2:121747108-121747108 GRCh38: 2:120989532-120989532
10	GLI2	NM_001374353.1(GLI2):c.789_826del (p.Arg264fs)	Deletion	Pathogenic	962182		GRCh37: 2:121726433-121726470 GRCh38: 2:120968857-120968894
11	GLI2	NM_001374353.1(GLI2):c.1905+1G>A	SNV	Likely pathogenic	576501	rs1558937172	GRCh37: 2:121742320-121742320 GRCh38: 2:120984744-120984744
12	GLI2	NM_001374353.1(GLI2):c.4603A>T (p.Thr1535Ser)	SNV	Likely pathogenic	374267	rs1057518657	GRCh37: 2:121748144-121748144 GRCh38: 2:120990568-120990568
13	GLI2	NM_001374353.1(GLI2):c.413C>T (p.Thr138Met)	SNV	Conflicting interpretations of pathogenicity	894191		GRCh37: 2:121708977-121708977 GRCh38: 2:120951401-120951401
14	GLI2	NM_001374353.1(GLI2):c.315G>A (p.Pro105=)	SNV	Uncertain significance	598536	rs139473153	GRCh37: 2:121708879-121708879 GRCh38: 2:120951303-120951303
15	GLI2	NM_001374353.1(GLI2):c.4392C>G (p.Asp1464Glu)	SNV	Uncertain significance	893754		GRCh37: 2:121747933-121747933 GRCh38: 2:120990357-120990357
16	GLI2	NM_001374353.1(GLI2):c.*1947G>A	SNV	Uncertain significance	893780		GRCh37: 2:121750198-121750198 GRCh38: 2:120992622-120992622
17	GLI2	NM_001374353.1(GLI2):c.149-14C>G	SNV	Uncertain significance	893359		GRCh37: 2:121684923-121684923 GRCh38: 2:120927347-120927347
18	GLI2	NM_001374353.1(GLI2):c.152C>G (p.Pro51Arg)	SNV	Uncertain significance	893360		GRCh37: 2:121684940-121684940 GRCh38: 2:120927364-120927364
19	GLI2	NM_001374353.1(GLI2):c.2873G>T (p.Arg958Leu)	SNV	Uncertain significance	893414		GRCh37: 2:121746414-121746414 GRCh38: 2:120988838-120988838
20	GLI2	NM_001374353.1(GLI2):c.4226C>T (p.Ser1409Leu)	SNV	Uncertain significance	893444		GRCh37: 2:121747767-121747767 GRCh38: 2:120990191-120990191
21	GLI2	NM_001374353.1(GLI2):c.*1660T>A	SNV	Uncertain significance	893479		GRCh37: 2:121749911-121749911 GRCh38: 2:120992335-120992335
22	GLI2	NM_001374353.1(GLI2):c.*1735T>C	SNV	Uncertain significance	893480		GRCh37: 2:121749986-121749986 GRCh38: 2:120992410-120992410
23	GLI2	NM_001374353.1(GLI2):c.*1753C>T	SNV	Uncertain significance	893481		GRCh37: 2:121750004-121750004 GRCh38: 2:120992428-120992428
24	GLI2	NM_001374353.1(GLI2):c.1195G>A (p.Asp399Asn)	SNV	Uncertain significance	892575		GRCh37: 2:121732563-121732563 GRCh38: 2:120974987-120974987
25	GLI2	NM_001374353.1(GLI2):c.1309C>G (p.Leu437Val)	SNV	Uncertain significance	892576		GRCh37: 2:121732677-121732677 GRCh38: 2:120975101-120975101
26	GLI2	NM_001374353.1(GLI2):c.2486C>T (p.Pro829Leu)	SNV	Uncertain significance	772295	rs761090665	GRCh37: 2:121746027-121746027 GRCh38: 2:120988451-120988451
27	GLI2	NM_001374353.1(GLI2):c.2666C>T (p.Pro889Leu)	SNV	Uncertain significance	892597		GRCh37: 2:121746207-121746207 GRCh38: 2:120988631-120988631
28	GLI2	NM_001374353.1(GLI2):c.2683A>G (p.Ser895Gly)	SNV	Uncertain significance	892598		GRCh37: 2:121746224-121746224 GRCh38: 2:120988648-120988648
29	GLI2	NM_001374353.1(GLI2):c.2689C>T (p.Arg897Trp)	SNV	Uncertain significance	813658		GRCh37: 2:121746230-121746230 GRCh38: 2:120988654-120988654
30	GLI2	NM_001374353.1(GLI2):c.*411C>T	SNV	Uncertain significance	892676		GRCh37: 2:121748662-121748662 GRCh38: 2:120991086-120991086
31	GLI2	NM_001374353.1(GLI2):c.*712G>C	SNV	Uncertain significance	892677		GRCh37: 2:121748963-121748963 GRCh38: 2:120991387-120991387
32	GLI2	NM_001374353.1(GLI2):c.*795T>C	SNV	Uncertain significance	892678		GRCh37: 2:121749046-121749046 GRCh38: 2:120991470-120991470
33	GLI2	NM_001374353.1(GLI2):c.88A>C (p.Lys30Gln)	SNV	Uncertain significance	419104	rs201053024	GRCh37: 2:121554984-121554984 GRCh38: 2:120797408-120797408
34	GLI2	NM_001374353.1(GLI2):c.4325G>A (p.Gly1442Asp)	SNV	Uncertain significance	973891		GRCh37: 2:121747866-121747866 GRCh38: 2:120990290-120990290
35	GLI2	NM_001374353.1(GLI2):c.1483_1494del (p.Lys495_Ser498del)	Deletion	Uncertain significance	1004973		GRCh37: 2:121740307-121740318 GRCh38: 2:120982731-120982742
36	GLI2	NM_001374353.1(GLI2):c.4413G>T (p.Leu1471Phe)	SNV	Uncertain significance	1016409		GRCh37: 2:121747954-121747954 GRCh38: 2:120990378-120990378
37	GLI2	NM_001374353.1(GLI2):c.770T>C (p.Val257Ala)	SNV	Uncertain significance	1022559		GRCh37: 2:121726416-121726416 GRCh38: 2:120968840-120968840
38	GLI2	NM_001374353.1(GLI2):c.3371A>T (p.Asn1124Ile)	SNV	Uncertain significance	894254		GRCh37: 2:121746912-121746912 GRCh38: 2:120989336-120989336
39	GLI2	NM_001374353.1(GLI2):c.661C>T (p.Pro221Ser)	SNV	Uncertain significance	452760	rs771675078	GRCh37: 2:121726307-121726307 GRCh38: 2:120968731-120968731
40	GLI2	NM_001374353.1(GLI2):c.671C>T (p.Thr224Met)	SNV	Uncertain significance	894600		GRCh37: 2:121726317-121726317 GRCh38: 2:120968741-120968741
41	GLI2	NM_001374353.1(GLI2):c.677G>A (p.Arg226His)	SNV	Uncertain significance	665586	rs766283583	GRCh37: 2:121726323-121726323 GRCh38: 2:120968747-120968747
42	GLI2	NM_001374353.1(GLI2):c.686G>A (p.Arg229His)	SNV	Uncertain significance	894601		GRCh37: 2:121726332-121726332 GRCh38: 2:120968756-120968756
43	GLI2	NM_001374353.1(GLI2):c.2131C>T (p.Arg711Trp)	SNV	Uncertain significance	894623		GRCh37: 2:121744079-121744079 GRCh38: 2:120986503-120986503
44	GLI2	NM_001374353.1(GLI2):c.2261T>G (p.Phe754Cys)	SNV	Uncertain significance	894624		GRCh37: 2:121745802-121745802 GRCh38: 2:120988226-120988226
45	GLI2	NM_001374353.1(GLI2):c.1924G>A (p.Gly642Arg)	SNV	Uncertain significance	894223		GRCh37: 2:121743872-121743872 GRCh38: 2:120986296-120986296
46	GLI2	NM_001374353.1(GLI2):c.*285G>A	SNV	Uncertain significance	894670		GRCh37: 2:121748536-121748536 GRCh38: 2:120990960-120990960
47	GLI2	NM_001374353.1(GLI2):c.146G>A (p.Gly49Glu)	SNV	Uncertain significance	930784		GRCh37: 2:121555042-121555042 GRCh38: 2:120797466-120797466
48	GLI2	NM_001374353.1(GLI2):c.4291T>C (p.Tyr1431His)	SNV	Uncertain significance	931811		GRCh37: 2:121747832-121747832 GRCh38: 2:120990256-120990256
49	GLI2	NM_001374353.1(GLI2):c.1121G>A (p.Arg374His)	SNV	Uncertain significance	198529	rs370220133	GRCh37: 2:121729578-121729578 GRCh38: 2:120972002-120972002
50	GLI2	NM_001374353.1(GLI2):c.4468G>A (p.Ala1490Thr)	SNV	Uncertain significance	947362		GRCh37: 2:121748009-121748009 GRCh38: 2:120990433-120990433

Sources

Expression for Holoprosencephaly 9

Search GEO for disease gene expression data for Holoprosencephaly 9.

Sources

Pathways for Holoprosencephaly 9

Pathways related to Holoprosencephaly 9 according to GeneCards Suite gene sharing:

(show all 12)

#	Super pathways	Score	Top Affiliating Genes
1	Signaling by Hedgehog ⁶⁵ Show member pathways Activation of SMO ⁶⁵ Hedgehog off' state ⁶⁵ Hedgehog on' state ⁶⁵	12.21	SHH PTCH1 GLI2 CDON
2	Mesodermal Commitment Pathway ¹ Show member pathways Endoderm Differentiation ¹	12.15	ZIC2 GLI2 FOXH1
3	Translation Non-genomic (rapid) action of Androgen Receptor ²³ Show member pathways Basal cell carcinoma ³⁶ Transcription Androgen Receptor nuclear signaling ²³	11.95	SHH PTCH1 GLI2
4	Wnt / Hedgehog / Notch ⁴	11.87	SHH PTCH1 GLI2
5	Heart Development ¹	11.17	SHH FOXH1
6	Hedgehog signaling events mediated by Gli proteins ¹	11.14	SHH PTCH1 GLI2
7	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²³	11.02	SHH PTCH1 GLI2
8	Dopaminergic Neurogenesis ¹	10.95	SHH GLI2
9	Signaling events mediated by the Hedgehog family ¹ Show member pathways HHAT G278V abrogates palmitoylation of Hh-Np ⁶⁵ Ligand-receptor interactions ⁶⁵	10.78	SHH PTCH1 GLI2 CDON
10	Hedgehog signaling pathway (KEGG) ³⁶	10.77	SHH PTCH1 GLI2 DISP1 CDON
11	Hedgehog Signaling Pathway (WikiPathways) ¹ Show member pathways GLI proteins bind promoters of Hh responsive genes to promote transcription ⁶⁵	10.61	SHH PTCH1 GLI2
12	Glypican 3 network ¹	10.31	SHH PTCH1

Sources

GO Terms for Holoprosencephaly 9

Biological processes related to Holoprosencephaly 9 according to GeneCards Suite gene sharing:

(show all 47)

#	Name	GO ID	Score	Top Affiliating Genes
1	multicellular organism development	GO:0007275	10	ZIC2 SIX3 SHH GLI2 DISP1
2	positive regulation of transcription by RNA polymerase II	GO:0045944	10	SIX3 SHH GLI2 FOXH1 CDON
3	negative regulation of transcription by RNA polymerase II	GO:0000122	9.99	SHH PTCH1 GLI2 FOXH1
4	brain development	GO:0007420	9.85	ZIC2 SIX3 PTCH1
5	positive regulation of transcription, DNA-templated	GO:0045893	9.85	ZIC2 SHH PTCH1 GLI2 FOXH1
6	regulation of cell proliferation	GO:0042127	9.82	SIX3 SHH PTCH1
7	heart looping	GO:0001947	9.7	SHH FOXH1
8	anatomical structure development	GO:0048856	9.7	SHH GLI2
9	odontogenesis of dentin-containing tooth	GO:0042475	9.7	SHH GLI2
10	embryonic digit morphogenesis	GO:0042733	9.69	SHH GLI2
11	embryonic limb morphogenesis	GO:0030326	9.69	SHH PTCH1
12	lens development in camera-type eye	GO:0002088	9.69	SIX3 CDON
13	determination of left/right symmetry	GO:0007368	9.69	SHH FOXH1 DISP1
14	embryonic organ development	GO:0048568	9.68	SHH PTCH1
15	branching involved in ureteric bud morphogenesis	GO:0001658	9.68	SHH PTCH1
16	cell fate specification	GO:0001708	9.67	SHH CDON
17	mammary gland development	GO:0030879	9.67	PTCH1 GLI2
18	pituitary gland development	GO:0021983	9.67	SIX3 GLI2
19	hair follicle morphogenesis	GO:0031069	9.66	SHH GLI2
20	embryonic pattern specification	GO:0009880	9.66	SHH DISP1
21	branching morphogenesis of an epithelial tube	GO:0048754	9.65	SHH GLI2
22	developmental growth	GO:0048589	9.65	SHH GLI2
23	negative regulation of smoothened signaling pathway	GO:0045879	9.65	PTCH1 GLI2
24	embryonic morphogenesis	GO:0048598	9.64	SHH CDON
25	striated muscle cell differentiation	GO:0051146	9.63	SHH CDON
26	hindbrain development	GO:0030902	9.63	SHH GLI2
27	anatomical structure formation involved in morphogenesis	GO:0048646	9.62	SHH GLI2
28	osteoblast development	GO:0002076	9.62	SHH GLI2
29	somite development	GO:0061053	9.61	SHH PTCH1
30	prostate gland development	GO:0030850	9.59	SHH PTCH1
31	smooth muscle tissue development	GO:0048745	9.58	SHH PTCH1
32	metanephric collecting duct development	GO:0072205	9.58	SHH PTCH1
33	pattern specification process	GO:0007389	9.58	SHH PTCH1 GLI2
34	positive regulation of T cell differentiation in thymus	GO:0033089	9.57	SHH GLI2
35	positive regulation of skeletal muscle tissue development	GO:0048643	9.56	SHH CDON
36	anterior/posterior pattern specification	GO:0009952	9.56	SHH GLI2 FOXH1 CDON
37	telencephalon regionalization	GO:0021978	9.55	SIX3 SHH
38	smoothened signaling pathway involved in dorsal/ventral neural tube patterning	GO:0060831	9.54	PTCH1 GLI2
39	mammary gland duct morphogenesis	GO:0060603	9.52	PTCH1 GLI2
40	spinal cord motor neuron differentiation	GO:0021522	9.5	SHH PTCH1 GLI2
41	smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation	GO:0021938	9.49	SHH GLI2
42	spinal cord dorsal/ventral patterning	GO:0021513	9.48	SHH GLI2
43	hindgut morphogenesis	GO:0007442	9.43	SHH GLI2
44	ventral midline development	GO:0007418	9.37	SHH GLI2
45	dorsal/ventral neural tube patterning	GO:0021904	9.33	SHH PTCH1 GLI2
46	smoothened signaling pathway	GO:0007224	9.26	SHH PTCH1 GLI2 CDON
47	dorsal/ventral pattern formation	GO:0009953	8.92	SHH PTCH1 GLI2 DISP1

Molecular functions related to Holoprosencephaly 9 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	patched binding	GO:0005113	8.62	SHH PTCH1

Sources

Sources for Holoprosencephaly 9

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Holoprosencephaly 9 (HPE9)

Aliases & Classifications for Holoprosencephaly 9

MalaCards integrated aliases for Holoprosencephaly 9:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Holoprosencephaly 9

Related Diseases for Holoprosencephaly 9

Diseases in the Holoprosencephaly family:

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

Graphical network of the top 20 diseases related to Holoprosencephaly 9:

Symptoms & Phenotypes for Holoprosencephaly 9

Human phenotypes related to Holoprosencephaly 9:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Holoprosencephaly 9:

MGI Mouse Phenotypes related to Holoprosencephaly 9:

Drugs & Therapeutics for Holoprosencephaly 9

Genetic Tests for Holoprosencephaly 9

Genetic tests related to Holoprosencephaly 9:

Anatomical Context for Holoprosencephaly 9

MalaCards organs/tissues related to Holoprosencephaly 9:

Publications for Holoprosencephaly 9

Articles related to Holoprosencephaly 9:

Genes for Holoprosencephaly 9

Genes related to Holoprosencephaly 9 (1 elite genes):

Variations for Holoprosencephaly 9

ClinVar genetic disease variations for Holoprosencephaly 9:

Expression for Holoprosencephaly 9

Pathways for Holoprosencephaly 9

Pathways related to Holoprosencephaly 9 according to GeneCards Suite gene sharing:

GO Terms for Holoprosencephaly 9

Biological processes related to Holoprosencephaly 9 according to GeneCards Suite gene sharing:

Molecular functions related to Holoprosencephaly 9 according to GeneCards Suite gene sharing:

Sources for Holoprosencephaly 9