SOD
MCID: SPT014
MIFTS: 68

Septo-Optic Dysplasia (SOD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Fetal diseases categories

Summaries for Septo-Optic Dysplasia

About this section
Sources:
22Genetics Home Reference, 44NIH Rare Diseases, 45NINDS, 66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NINDS:45 Septo-optic dysplasia (SOD) is a rare disorder characterized by abnormal development of the optic disk, pituitary deficiencies, and often agenesis (absence) of the septum pellucidum (the part of the brain that separates the anterior horns or the lateral ventricles of the brain). Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems. Seizures may also occur. In a few cases, jaundice (prolonged yellow skin discoloration) may occur at birth. Intellectual problems vary in severity among individuals. While some children with SOD have normal intelligence, others have learning disabilities and mental retardation. Most, however, are developmentally delayed due to vision impairment or neurological problems.

MalaCards: Septo-Optic Dysplasia, also known as septooptic dysplasia, is related to hypopituitarism and growth hormone deficiency, and has symptoms including autism/autistic disoders, intellectual deficit/mental/psychomotor retardation/learning disability and sleep and vigilance disorders. An important gene associated with Septo-Optic Dysplasia is HESX1 (HESX homeobox 1), and among its related pathways are Transcriptional Regulatory Network in Embryonic Stem Cell and Signaling by FGFR3 mutants. The compounds acth and citrinin have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and skin, and related mouse phenotypes are taste/olfaction and no phenotypic analysis.

Genetics Home Reference:22 Septo-optic dysplasia is a disorder of early brain development. Although its signs and symptoms vary, this condition is traditionally defined by three characteristic features: underdevelopment (hypoplasia) of the optic nerve, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia.

NIH Rare Diseases:44 Septo-optic dysplasia is a disorder of early brain development. the signs and symptoms vary from person to person; however, underdevelopment (hypoplasia) of the optic nerve, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia are the characteristic findings. recurring seizures, delayed development, and abnormal movements may be present in some people with septo-optic dysplasia. although the exact cause of septo-optic dysplasia is unknown, it is believed that both genetic and environmental factors play a role. viruses, medications, and blood flow disruption have all been suggested as possible environmental causes. thus far, three genes (hesx1, otx2, and sox2) have been associated with septo-optic dysplasia. typically, people do not have a family history of septo-optic dysplasia. however, there have been a few cases in which multiple family members have been diagnosed. familial cases may follow an autosomal recessive or autosomal dominant pattern of inheritance. last updated: 7/13/2012

Wikipedia:66 Septo-optic dysplasia (SOD), (de Morsier syndrome) is a rare congenital malformation syndrome featuring... more...

Description from OMIM:48 182230,262600,613038,613986

Aliases & Classifications for Septo-Optic Dysplasia

About this section
Sources:
44NIH Rare Diseases, 21GeneTests, 22Genetics Home Reference, 45NINDS, 48OMIM, 46Novoseek, 50Orphanet, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 26ICD10
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
septo-optic dysplasia:
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial,Sporadic; Age of onset: Neonatal/infancy
multiple pituitary hormone deficiencies, genetic forms:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive


Aliases & Descriptions:

septo-optic dysplasia 44 22 45 46 50
septooptic dysplasia 44 21 22 48
de morsier syndrome 44 22 46 50
sod 44 22 50
multiple pituitary hormone deficiencies, genetic forms 50
combined pituitary hormone deficiencies, genetic forms 50
septo-optic dysplasia with growth hormone deficiency 44
hypopituitarism and septooptic 'dysplasia' 44
familial congenital hypopituitarism 50
septo-optic dysplasia spectrum 50
de morsier's syndrome 45


External Ids:

MESH via Orphanet37 D025962
ICD10 via Orphanet27 Q04.8, E23.0
SNOMED-CT via Orphanet60 7611002
UMLS via Orphanet64 C0338503
ICD1026 Q04.4

Related Diseases for Septo-Optic Dysplasia

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Diseases related to Septo-Optic Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 83)
idRelated DiseaseScoreTop Affiliating Genes
1hypopituitarism30.9LHX3, SOX3, POU1F1, HESX1, PROP1, GH1
2growth hormone deficiency30.9SOX3, POU1F1, HESX1, PROP1, GH1
3dwarfism30.6POU1F1, PROP1, GH1, FGFR1
4isolated growth hormone deficiency30.5POU1F1, GH1
5holoprosencephaly30.5FGF8, GLI2, PROP1, HESX1, POU1F1, SOX3
6panhypopituitarism30.4LHX3, GH1, PROP1, HESX1, POU1F1
7pituitary hypoplasia30.2OTX2, PROP1, LHX3, SOX3, POU1F1, HESX1
8kallmann syndrome30.2HESX1, LHX3, PROP1, PROK2, PROKR2, FGF8
9optic nerve hypoplasia10.7
10diabetes insipidus10.5
11cerebritis10.5
12schizencephaly10.5
13hypoglycemia10.4
14retinitis10.4
15encephalocele10.4
16faces syndrome10.4
17combined pituitary hormone deficiency10.4
18encephaloceles10.4
19vascular disruption sequence10.4
20periventricular nodular heterotopia10.3
21marshall-smith syndrome10.2
22cornelia de lange syndrome10.2
23clubfoot10.2
24hyperinsulinism10.2
25hemophagocytic lymphohistiocytosis10.2
26choroiditis10.2
27sotos syndrome10.2
28hyperprolactinemia10.2
29lissencephaly10.2
30gastroschisis10.2
31arachnoiditis10.2
32dyskinetic cerebral palsy10.2
33autism spectrum disorder10.2
34cerebral palsy10.2
35hepatitis10.2
36neonatal jaundice10.2
37congenital hepatic fibrosis10.2
38polymicrogyria10.2
39tetra-amelia syndrome10.2
40absence of septum pellucidum10.2
41adams oliver syndrome10.2
42anorchia10.2
43arachnoid cysts10.2
44bilateral perisylvian polymicrogyria10.2
45cerebellar hypoplasia10.2
46craniotelencephalic dysplasia10.2
47oliver syndrome10.2
48pagon stephan syndrome10.2
49rhombencephalosynapsis10.2
50blindness10.2

Graphical network of the top 20 diseases related to Septo-Optic Dysplasia:



Diseases related to septo-optic dysplasia

Symptoms for Septo-Optic Dysplasia

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

182230

Clinical features from OMIM:

182230,262600,613038,613986

Symptoms:

50 (show all 34)
  • autism/autistic disoders
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • sleep and vigilance disorders
  • asthenia/fatigue/weakness
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • generalized obesity
  • thirst
  • antenatal exposure : alcohol
  • maternal diabetes
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • diabetes insipidus
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • congenital cardiac anomaly/malformation/cardiopathy
  • hypothalamic-hypophyseal axis functional anomalies/hypopituitarism
  • hypothalamic-hypophyseal axis anomalies/hypothalamus/pituitary anomalies
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • micropenis/small penis/agenesis
  • nystagmus
  • strabismus/squint
  • septo-optic dysplasia
  • visual loss/blindness/amblyopia
  • corpus callosum/septum pellucidum total/partial agenesis
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • constipation
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • dry/squaly skin/exfoliation
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • sensorineural deafness/hearing loss
  • anosmia/cacosmia/hypogeusia/hyposmia/olfactory bulb hypoplasia
  • short stature/dwarfism/nanism
  • seizures/epilepsy/absences/spasms/status epilepticus
  • optic nerve anomaly/optic atrophy/anomaly of the papilla

Drugs & Therapeutics for Septo-Optic Dysplasia

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Septo-Optic Dysplasia

Drug clinical trials:

Search ClinicalTrials for Septo-Optic Dysplasia

Search NIH Clinical Center for Septo-Optic Dysplasia

Search CenterWatch for Septo-Optic Dysplasia

Genetic Tests for Septo-Optic Dysplasia

About this section
Sources:
21GeneTests
See all sources

Genetic tests related to Septo-Optic Dysplasia:

id Genetic test Affiliating Genes
1 Septooptic Dysplasia21 HESX1

Anatomical Context for Septo-Optic Dysplasia

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Septo-Optic Dysplasia:

34
Pituitary, Brain, Skin, Eye, Testes, Hypothalamus, Cerebellum, Olfactory bulb

Animal Models for Septo-Optic Dysplasia or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Septo-Optic Dysplasia:

38 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.4SOX2, HESX1, OTX2
2MP:00030128.8FGFR1, GLI2, PAX3, SOX2, SOX3
3MP:00053888.6SOX2, PAX3, HESX1, PROP1, GLI2, OTX2
4MP:00053818.0SOX2, PAX3, GLI2, OTX2, FGF8, FGFR1
5MP:00028737.9SOX2, PAX3, HESX1, GLI2, OTX2, FGF8
6MP:00053697.8SOX2, SOD1, PAX3, GLI2, OTX2, FGF8
7MP:00053907.8SOX2, SOD1, PAX3, GLI2, OTX2, FGF8
8MP:00053807.8SOX3, SOX2, PAX3, HESX1, GLI2, OTX2
9MP:00053917.7SOX2, SOD1, PAX3, HESX1, GLI2, OTX2
10MP:00053827.3POU1F1, SOX2, SOX3, LHX3, PAX3, HESX1
11MP:00053867.2SOX3, SOX2, SOD1, PAX3, PROP1, PROKR2
12MP:00053777.1LHX3, SOX2, SOD1, POU1F1, PAX3, HESX1
13MP:00053847.1SOX3, SOX2, SOD1, PAX3, PROP1, PROKR2
14MP:00053897.0SOD1, SOX2, SOX3, LHX3, POU1F1, PROP1
15MP:00053786.5PAX3, POU1F1, SOX2, SOX3, LHX3, PROP1
16MP:00053766.4POU1F1, SOD1, SOX2, SOX3, LHX3, PAX3
17MP:00107686.4POU1F1, SOD1, SOX2, SOX3, LHX3, PAX3
18MP:00053796.0FGFR1, LHX3, SOX3, SOX2, SOD1, POU1F1
19MP:00036315.4PAX3, POU1F1, SOD1, SOX2, SOX3, LHX3

Publications for Septo-Optic Dysplasia

About this section
Sources:
53PubMed
See all sources

Articles related to Septo-Optic Dysplasia:

(show top 50)    (show all 173)
idTitleAuthorsYear
1
Anorchia masked by septo-optic dysplasia. (22196414)
2012
2
The association of sphenoidal encephalocele and right anophthalmia with septo-optic dysplasia: a case report. (22665004)
2012
3
Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond. (21396578)
2011
4
Presenting features and long-term effects of growth hormone treatment of children with optic nerve hypoplasia/septo-optic dysplasia. (22085631)
2011
5
Septo-optic dysplasia syndrome with schizencephaly and sudden visual loss. A new observation. (21677624)
2011
6
Septo-optic dysplasia plus: a patient with diabetes insipidus. (20682211)
2010
7
Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency. (20694410)
2010
8
Rest-activity disturbances in children with septo-optic dysplasia characterized by actigraphy and 24-hour plasma melatonin profiles. (20660044)
2010
9
Social communication difficulties and autism spectrum disorder in young children with optic nerve hypoplasia and/or septo-optic dysplasia. (20370811)
2010
10
Septo-optic dysplasia. (21073116)
2010
11
Septo-optic dysplasia. (19623216)
2010
12
Septo-optic dysplasia. (20602044)
2010
13
Septo-optic dysplasia with encephalocele. (19766496)
2009
14
Septo-optic dysplasia, limb anomalies and cutis aplasia: further evidence for overlap between Pagon and Adams-Oliver syndromes. (19623038)
2009
15
Monocular nystagmus with sectoral optic nerve hypoplasia in a patient with septo-optic dysplasia. (18637109)
2009
16
Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism. (19093031)
2008
17
Marshall-Smith syndrome and septo-optic dysplasia: an unreported association. (18627063)
2008
18
Electroconvulsive therapy of a depressed patient with septo-optic dysplasia. (18451203)
2008
19
Septo-optic dysplasia associated with abnormal pubertal development. (17624226)
2007
20
Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia. (15670191)
2005
21
Septo-optic dysplasia and dentato-olivary dysplasia in a case of 18q deletion/3p trisomy. (14986931)
2004
22
Diffusion-tensor imaging in septo-optic dysplasia. (15160259)
2004
23
Septo-optic dysplasia plus. (12849124)
2003
24
Septo-optic dysplasia with congenital hepatic fibrosis. (14580661)
2003
25
Case 12. Absent septum or septo-optic dysplasia (magnetic resonance imaging not yet performed). (12008837)
2002
26
Septo-optic dysplasia as a manifestation of valproic acid embryopathy. (11460259)
2001
27
Children with septo-optic dysplasia - how to improve and sharpen the diagnosis. (10895038)
2000
28
Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7. (9541113)
1998
29
Septo-optic dysplasia associated with bilateral complex microphthalmos. (8905851)
1996
30
Sotos syndrome with septo-optic dysplasia. (8910820)
1996
31
Septo-optic dysplasia associated with cerebral cortical dysplasia (cortico-septo-optic dysplasia). (9107111)
1996
32
Septo-optic dysplasia and growth hormone deficiency: accelerated pubertal maturation during GH therapy. (1392395)
1992
33
Septo-optic dysplasia (case report). (1810885)
1991
34
Growth hormone deficiency of hypothalamic origin in septo-optic dysplasia. (2079074)
1990
35
Septo-optic dysplasia: report of a case. (2637588)
1989
36
Septo-optic dysplasia (SOD) or DeMorsier syndrome. (2529272)
1989
37
Anaesthesia and septo-optic dysplasia. Implications of missed diagnosis in the peri-operative period. (3434762)
1987
38
Hypothalamic defects in two adult patients with septo-optic dysplasia. (3751451)
1986
39
Extreme variant of septo-optic dysplasia. (3934619)
1985
40
Hormonal, metabolic, and neuroradiologic abnormalities associated with septo-optic dysplasia. (6093418)
1984
41
The endocrine spectrum of septo-optic dysplasia. (6488662)
1984
42
Computed tomographic findings in septo-optic dysplasia: discordance between clinical and radiological findings. (6462434)
1984
43
Septo-optic dysplasia and median cleft face syndrome in a patient with isolated growth hormone deficiency and hyperprolactinemia. (6846278)
1983
44
Septo-optic dysplasia and maternal age. (87980)
1979
45
Maternal factors in septo-optic dysplasia. (480051)
1979
46
Septo-optic dysplasia (de Morsier syndrome). (308321)
1978
47
A case of septo-optic dysplasia. (102048)
1978
48
Septo-optic dysplasia: a case report. (897950)
1977
49
Septo-optic dysplasia. (5076259)
1972
50
Septo-optic dysplasia and pituitary dwarfism. (4191531)
1970

Variations for Septo-Optic Dysplasia

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Septo-Optic Dysplasia:

65
id Symbol AA change Variation ID SNP ID
1HESX1p.Arg160CysVAR_010225rs28936702
2HESX1p.Gln6HisVAR_063230
3HESX1p.Ile26ThrVAR_063231
4HESX1p.Glu149LysVAR_063232
5HESX1p.Ser170LeuVAR_063233
6HESX1p.Thr181AlaVAR_063234

Clinvar genetic disease variations for Septo-Optic Dysplasia:

1
id Gene Name Type Significance SNP ID Assembly Location
1HESX1NM_003865.2(HESX1): c.478C> T (p.Arg160Cys)single nucleotide variantPathogenicrs28936702GRCh37Chr 3, 57232305: 57232305
2HESX1HESX1, 2-BP INS, 306AGinsertionPathogenic
3HESX1HESX1, 1-BP DEL, 1684GdeletionPathogenic

Expression for genes affiliated with Septo-Optic Dysplasia

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Septo-Optic Dysplasia

Search GEO for disease gene expression data for Septo-Optic Dysplasia.

Pathways for genes affiliated with Septo-Optic Dysplasia

About this section
Sources:
51PathCards, 54QIAGEN, 56Reactome, 5Cell Signaling Technology, 13EMD Millipore, 61Thomson Reuters, 39NCBI BioSystems Database
See all sources

Pathways related to Septo-Optic Dysplasia according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0HESX1, SOX2
2
Show member pathways
9.6FGFR1, FGF8
3
Show member pathways
9.6FGFR1, FGF8
49.5SOX2, GLI2, OTX2
59.4OTX2, PAX3, SOX3
6
Show member pathways
9.2LHX3, FGF8, FGFR1
7
Show member pathways
9.1FGFR1, FGF8, GH1
8
Show member pathways
9.1FGFR1, FGF8, GH1
99.0FGFR1, FGF8, PAX3
10
Show member pathways
8.8FGFR1, FGF8, GH1, SOX2
11
Show member pathways
8.5SOX3, SOX2, GH1, FGF8, FGFR1

Compounds for genes affiliated with Septo-Optic Dysplasia

About this section
Sources:
46Novoseek, 25HMDB, 52PharmGKB, 12DrugBank, 30IUPHAR, 62Tocris Bioscience
See all sources

Compounds related to Septo-Optic Dysplasia according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1acth469.7GH1, PROP1, HESX1, POU1F1
2citrinin469.6SOD1, MT-CYB
3semiquinone469.6MT-CYB, SOD1
4fenton469.5SOD1, MT-CYB
5ribonucleic acid469.5FGFR1, GH1, POU1F1
6antimycin a469.5MT-CYB, SOD1
7nitroblue tetrazolium469.4MT-CYB, SOD1
8hydroquinone46 2510.4SOD1, MT-CYB
9gnrh469.2LHX3, HESX1, PROP1, GH1, FGFR1
10forskolin46 52 1211.2POU1F1, GH1, FGF8, FGFR1
11dopamine46 30 25 1212.1FGFR1, FGF8, GH1, POU1F1
12ubiquinone469.1MT-CYB, SOD1
13oligonucleotide469.0POU1F1, PAX3, GH1, OTX2, FGFR1
14steroid468.9POU1F1, PROP1, GH1, FGFR1
15thymidine46 259.9FGFR1, GH1, MT-CYB, POU1F1
16testosterone46 62 25 1211.9PROP1, GH1, FGF8, FGFR1
17leucine468.9POU1F1, MT-CYB, GH1, FGFR1
18retinoic acid46 259.9SOX2, POU1F1, GH1, FGF8, FGFR1
19cysteine468.7LHX3, SOD1, PAX3, GH1, FGFR1
20alanine468.6SOX3, SOD1, POU1F1, MT-CYB, GH1
21h2o2468.6FGFR1, GH1, MT-CYB, SOD1
22zinc46 259.2FGFR1, FGF8, GLI2, GH1, POU1F1, SOD1
23tyrosine468.1LHX3, POU1F1, PAX3, GH1, FGF8, FGFR1

GO Terms for genes affiliated with Septo-Optic Dysplasia

About this section
Sources:
17Gene Ontology
See all sources

Cellular components related to Septo-Optic Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.6PROP1, SOX2, LHX3
2nucleusGO:0056346.7FGFR1, LHX3, SOX3, SOX2, SOD1, POU1F1

Biological processes related to Septo-Optic Dysplasia according to GeneCards/GeneDecks:

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1diencephalon morphogenesisGO:04885210.2OTX2, SOX2
2cell fate specificationGO:00170810.2OTX2, POU1F1
3regulation of smoothened signaling pathwayGO:00858910.1OTX2, GLI2
4dorsal/ventral pattern formationGO:00995310.1PROP1, OTX2
5midbrain developmentGO:03090110.1FGFR1, OTX2
6otic vesicle formationGO:03091610.0FGF8, HESX1
7forebrain morphogenesisGO:04885310.0FGF8, HESX1
8positive regulation of multicellular organism growthGO:04001810.0GH1, POU1F1
9inner ear morphogenesisGO:0424729.9FGFR1, OTX2, SOX2
10neuron fate commitmentGO:0486639.9PAX3, SOX2
11negative regulation of neuron differentiationGO:0456659.9SOX2, SOX3
12positive regulation of neuron differentiationGO:0456669.9SOX2, GLI2, FGFR1
13chondrocyte differentiationGO:0020629.9GLI2, FGFR1
14spinal cord association neuron differentiationGO:0215279.9LHX3, PAX3
15branching involved in salivary gland morphogenesisGO:0604459.9FGF8, FGFR1
16organ inductionGO:0017599.9FGF8, FGFR1
17inner ear developmentGO:0488399.8SOX2, LHX3
18male genitalia developmentGO:0305399.8FGF8, SOX2
19placenta developmentGO:0018909.8LHX3, SOD1
20motor neuron axon guidanceGO:0080459.7LHX3, FGF8
21organ morphogenesisGO:0098879.7PAX3, SOX3, LHX3
22circadian rhythmGO:0076239.6PROKR2, PROK2
23pituitary gland developmentGO:0219839.6GLI2, SOX2, SOX3, LHX3
24sensory perception of soundGO:0076059.6FGFR1, PAX3, SOD1
25positive regulation of MAP kinase activityGO:0434069.4FGFR1, GH1
26positive regulation of cell proliferationGO:0082849.1POU1F1, PAX3, FGF8, FGFR1
27negative regulation of transcription from RNA polymerase II promoterGO:0001228.9SOX2, POU1F1, PAX3, PROP1, GLI2, FGFR1
28positive regulation of transcription, DNA-templatedGO:0458938.8LHX3, SOX2, POU1F1, PAX3, GLI2, OTX2
29positive regulation of transcription from RNA polymerase II promoterGO:0459448.5LHX3, SOX2, POU1F1, PAX3, PROP1, GLI2

Molecular functions related to Septo-Optic Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptionGO:0010779.3SOX2, POU1F1, OTX2
2chromatin bindingGO:0036828.6SOX2, POU1F1, PAX3, HESX1, PROP1, GLI2
3sequence-specific DNA bindingGO:0435658.2OTX2, LHX3, SOX2, POU1F1, PAX3, HESX1
4sequence-specific DNA binding transcription factor activityGO:0037008.2LHX3, SOX2, POU1F1, PAX3, HESX1, PROP1
5protein bindingGO:0055157.4SOD1, PAX3, HESX1, PROP1, GH1, GLI2

Products for genes affiliated with Septo-Optic Dysplasia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Septo-Optic Dysplasia

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet