SOD
MCID: SPT006
MIFTS: 54

Septooptic Dysplasia (SOD)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Septooptic Dysplasia

MalaCards integrated aliases for Septooptic Dysplasia:

Name: Septooptic Dysplasia 57 12 25 75 15
Septo-Optic Dysplasia 12 76 25 54 37 55 44
Growth Hormone Deficiency with Pituitary Anomalies 57 75 13 6 73
De Morsier Syndrome 57 12 25 75 55
Sod 12 25 75
Pituitary Hormone Deficiency, Combined, 5 57 75
Pituitary Hormone Deficiency, Combined 5 29 6
Septo-Optic Dysplasia with Growth Hormone Deficiency 75
Dysplasia, Septo-Optic 40
Kallmann Syndrome 73
Ghdpa 75
Cphd5 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable phenotype
diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects)


HPO:

32
septooptic dysplasia:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Septooptic Dysplasia

UniProtKB/Swiss-Prot : 75 Growth hormone deficiency with pituitary anomalies: A disease characterized by low or absent growth hormone levels, in the presence of a hypoplastic anterior pituitary lobe and ectopic or absent posterior pituitary lobe. Pituitary hormone deficiency, combined, 5: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD5 is characterized by complete or partial deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. Septooptic dysplasia: A clinically heterogeneous disorder defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia with panhypopopituitarism, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum.

MalaCards based summary : Septooptic Dysplasia, also known as septo-optic dysplasia, is related to pituitary stalk interruption syndrome and schizencephaly. An important gene associated with Septooptic Dysplasia is HESX1 (HESX Homeobox 1). The drugs Hormone Antagonists and Hormones, Hormone Substitutes, and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and eye, and related phenotypes are agenesis of corpus callosum and global developmental delay

Disease Ontology : 12 An autosomal genetic disease characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has material basis in mutation in the HESX1 gene on chromosome 3p14.

Genetics Home Reference : 25 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 nerves, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia.

OMIM : 57 Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010). Also see 516020.0012 for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance. (182230)

NINDS : 54 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. Most, however, are developmentally delayed due to vision impairment or neurological problems.

Wikipedia : 76 Septo-optic dysplasia (SOD), (de Morsier syndrome) is a rare congenital malformation syndrome featuring... more...

Related Diseases for Septooptic Dysplasia

Diseases related to Septooptic Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 pituitary stalk interruption syndrome 31.2 HESX1 LHX4 POU1F1 SOX3
2 schizencephaly 30.7 HESX1 SIX3
3 growth hormone deficiency 30.2 HESX1 SOX3
4 kallmann syndrome 30.0 HESX1 LHX3 PROP1
5 hypothyroidism 29.9 HESX1 LHX3 POU1F1 PROP1
6 isolated growth hormone deficiency 29.8 HESX1 POU1F1 PROP1 SOX3
7 combined pituitary hormone deficiency 29.8 HESX1 LHX3 LHX4 POU1F1 PROP1
8 pituitary hormone deficiency, combined, 2 29.5 HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
9 hypopituitarism 29.4 HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
10 pituitary hypoplasia 29.3 HESX1 LHX3 LHX4 POU1F1 SOX3
11 absence of septum pellucidum 11.9
12 pagon stephan syndrome 11.8
13 craniotelencephalic dysplasia 11.4
14 central congenital hypothyroidism 11.4
15 de morsier's syndrome information 11.4
16 septo-optic dysplasia spectrum 11.4
17 microphthalmia, syndromic 5 11.2
18 optic nerve hypoplasia, bilateral 10.6
19 diabetes insipidus 10.4
20 encephalocele 10.4
21 gastroschisis 10.3
22 holoprosencephaly 10.3
23 infantile epileptic encephalopathy 10.3
24 retinal detachment 10.3
25 omphalocele 10.3
26 epilepsy 10.3
27 hypoglycemia 10.3
28 dwarfism 10.3
29 arachnoid cysts 10.1
30 apert syndrome 10.1
31 sotos syndrome 1 10.1
32 autism 10.1
33 cerebellar hypoplasia 10.1
34 persistent hyperplastic primary vitreous, autosomal recessive 10.1
35 corpus callosum, partial agenesis of, x-linked 10.1
36 hyperinsulinemic hypoglycemia, familial, 3 10.1
37 marshall-smith syndrome 10.1
38 hyperinsulinemic hypoglycemia, familial, 5 10.1
39 hyperinsulinemic hypoglycemia, familial, 4 10.1
40 cortical dysplasia, complex, with other brain malformations 7 10.1
41 hyperprolactinemia 10.1
42 cerebral palsy 10.1
43 dilated cardiomyopathy 10.1
44 hemophagocytic lymphohistiocytosis 10.1
45 lissencephaly 10.1
46 dyskinetic cerebral palsy 10.1
47 autism spectrum disorder 10.1
48 cornelia de lange syndrome 10.1
49 clubfoot 10.1
50 hyperinsulinism 10.1

Graphical network of the top 20 diseases related to Septooptic Dysplasia:



Diseases related to Septooptic Dysplasia

Symptoms & Phenotypes for Septooptic Dysplasia

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
optic nerve hypoplasia
hypoplastic optic discs

Neurologic Central Nervous System:
absent septum pellucidum
absent corpus callosum
midline forebrain defects
psychomotor retardation

Skeletal Hands:
supernumerary digits
hypoplastic digits

Laboratory Abnormalities:
low or absent growth hormone (gh)
low or absent thyrotropin (tsh)
low or absent follicle-stimulating hormone (fsh)
low or absent luteinizing hormone (lh)
low or absent adrenocorticotropic hormone (acth)

Endocrine Features:
diabetes insipidus
hypoplasia of anterior pituitary
ectopic or absent posterior pituitary

Growth Height:
short stature (if untreated)

Metabolic Features:
hypoglycemia, neonatal (in some patients)


Clinical features from OMIM:

182230

Human phenotypes related to Septooptic Dysplasia:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 HP:0001274
2 global developmental delay 32 HP:0001263
3 short stature 32 HP:0004322
4 optic nerve hypoplasia 32 HP:0000609
5 diabetes insipidus 32 HP:0000873
6 absent septum pellucidum 32 HP:0001331
7 short finger 32 HP:0009381
8 optic disc hypoplasia 32 HP:0007766
9 growth hormone deficiency 32 HP:0000824
10 anterior pituitary hypoplasia 32 HP:0010627
11 polydactyly 32 HP:0010442

MGI Mouse Phenotypes related to Septooptic Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.95 HESX1 LHX3 LHX4 POU1F1 PROP1 SOD1
2 growth/size/body region MP:0005378 9.91 HESX1 LHX3 POU1F1 PROP1 SIX3 SOD1
3 mortality/aging MP:0010768 9.86 HESX1 LHX3 LHX4 POU1F1 PROP1 SIX3
4 craniofacial MP:0005382 9.83 HESX1 LHX3 POU1F1 SIX3 SOX3
5 nervous system MP:0003631 9.76 HESX1 LHX3 LHX4 POU1F1 PROP1 SIX3
6 hearing/vestibular/ear MP:0005377 9.62 HESX1 LHX3 POU1F1 SOD1
7 reproductive system MP:0005389 9.35 LHX3 POU1F1 PROP1 SOD1 SOX3
8 respiratory system MP:0005388 8.92 HESX1 LHX4 PROP1 SIX3

Drugs & Therapeutics for Septooptic Dysplasia

Drugs for Septooptic Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormone Antagonists Phase 4,Phase 3
2 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
3 Hormones Phase 4,Phase 3
4
Zinc Approved, Investigational Phase 3 7440-66-6
5 Pharmaceutical Solutions Phase 3
6 Hypoglycemic Agents Phase 3
7 insulin Phase 3
8 Insulin, Globin Zinc Phase 3
9
Melatonin Approved, Nutraceutical, Vet_approved Early Phase 1 73-31-4 896
10 Protective Agents Early Phase 1
11 Antioxidants Early Phase 1
12 Central Nervous System Depressants Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
2 Validation of Macimorelin as a Test for Adult Growth Hormone Deficiency Completed NCT02558829 Phase 3 Macimorelin;Insulin
3 Biological Clock Dysfunction in Optic Nerve Hypoplasia Unknown status NCT00825591 Early Phase 1

Search NIH Clinical Center for Septooptic Dysplasia

Cochrane evidence based reviews: septo-optic dysplasia

Genetic Tests for Septooptic Dysplasia

Genetic tests related to Septooptic Dysplasia:

# Genetic test Affiliating Genes
1 Pituitary Hormone Deficiency, Combined 5 29

Anatomical Context for Septooptic Dysplasia

MalaCards organs/tissues related to Septooptic Dysplasia:

41
Pituitary, Brain, Eye, Skin, Thyroid, Testes, Kidney

Publications for Septooptic Dysplasia

Articles related to Septooptic Dysplasia:

(show top 50) (show all 220)
# Title Authors Year
1
Septo-optic dysplasia. ( 28050731 )
2018
2
Nailing septo-optic dysplasia. ( 29437724 )
2018
3
Septo-optic Dysplasia : Assessment of Associated Findings with Special Attention to the Olfactory Sulci and Tracts. ( 29663010 )
2018
4
Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age - A EUROCAT study. ( 29753093 )
2018
5
Teaching NeuroImages: Radiologic features of septo-optic dysplasia plus syndrome. ( 30510030 )
2018
6
Bilateral Exudative Retinal Detachment in Septo-Optic Dysplasia. ( 29317570 )
2017
7
Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan. ( 29026269 )
2017
8
Septo-optic dysplasia/de Morsier's syndrome. ( 28217067 )
2017
9
Characterization of a novel HESX1 mutation in a pediatric case of septo-optic dysplasia. ( 28396770 )
2017
10
Endocrine status of patients with septo-optic dysplasia: fourteen Japanese cases. ( 28458461 )
2017
11
Septo-optic dysplasia plus diagnosed in adulthood. ( 28474147 )
2017
12
Clinical and Radiologic Spectrum of Septo-optic Dysplasia: Review of 17 Cases. ( 28482731 )
2017
13
Six adult patients with septo-optic dysplasia and drug-resistant epilepsy: Clinical findings and course. ( 29159066 )
2017
14
Increasing incidence of optic nerve hypoplasia/septo-optic dysplasia spectrum: Geographic clustering in Northern Canada. ( 29479262 )
2017
15
Increased Intraocular Pressure in a Patient With Septooptic Dysplasia: A Case Report. ( 27136085 )
2016
16
A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes. ( 26781211 )
2016
17
Septooptic Dysplasia with an Associated Arachnoid Cyst. ( 27891281 )
2016
18
Gastroschisis Complicated by Septo-Optic Dysplasia: Two Distinct Anomalies with a Common Origin. ( 26929863 )
2016
19
Septo-Optic Dysplasia: A Case Study. ( 26842535 )
2016
20
Septo-Optic Dysplasia in a Newborn Presenting with Bilateral Dilated and Fixed Pupils. ( 26929862 )
2016
21
Spectrum of clinical presentations and endocrinological findings of patients with septo-optic dysplasia: a retrospective study. ( 25879316 )
2015
22
Novel application of luciferase assay for the inA vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD). ( 26375424 )
2015
23
Septo-optic Dysplasia Complex with Omphalocele, Pre-maxillary Agenesis and Encephalocele. ( 25848158 )
2015
24
Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia. ( 25645515 )
2015
25
Septo-optic dysplasia: Magnetic Resonance Imaging findings. ( 26286097 )
2015
26
Unilateral closed lip schizencephaly with septo-optic dysplasia. ( 24761255 )
2014
27
Septo-optic dysplasia plus: a case report. ( 24678945 )
2014
28
Utilizing optical coherence tomography in diagnosing a unique presentation of chiasmal hypoplasia variant of septo-optic dysplasia. ( 24451551 )
2014
29
Acceleration of puberty during growth hormone therapy in a child with septo-optic dysplasia. ( 24932606 )
2014
30
A giant renal angiomyolipoma (AML) in a patient with septo-optic dysplasia (SOD). ( 25199882 )
2014
31
Midbrain-hindbrain involvement in septo-optic dysplasia. ( 24763416 )
2014
32
SEPTO-OPTIC DYSPLASIA ASSOCIATED WITH CONGENITAL PERSISTENT FETAL VASCULATURE, RETINAL DETACHMENT, AND GASTROSCHISIS. ( 25397592 )
2014
33
New insights into septo-optic dysplasia. ( 24802313 )
2014
34
Septo-optic dysplasia in a patient with an unbalanced 5;12 translocation. ( 23827435 )
2013
35
Diagnosis of septo-optic dysplasia in a neonate with hypernatremia, hypoglycemia, and persistent hypothermia. ( 23813351 )
2013
36
Septo-optic dysplasia: illustration of a case. ( 24203814 )
2013
37
Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia. ( 23386640 )
2013
38
The identification and measurement of autistic features in children with septo-optic dysplasia, optic nerve hypoplasia and isolated hypopituitarism. ( 24210356 )
2013
39
Septo-optic dysplasia complex: Clinical and radiological manifestations in Omani children. ( 24379556 )
2013
40
Vascular cerebral anomalies associated with Septo-Optic Dysplasia. A case report. ( 23859170 )
2013
41
Septo-optic dysplasia plus bilateral perisylvian polymicrogyria: a case report. ( 23124487 )
2013
42
Septo-optic dysplasia: fitting the pieces together. ( 23709551 )
2013
43
Incidental discovery of subtle-variant septooptic dysplasia in an adult with headaches: a novel case with pathophysiologic implications. ( 23333409 )
2013
44
Septo-optic dysplasia-plus and dyskinetic cerebral palsy in a child. ( 21533562 )
2012
45
Anorchia masked by septo-optic dysplasia. ( 22196414 )
2012
46
Novel proximal 14q deletion: clinical and diffusion tensor imaging tractography findings in a patient with lissencephaly, agenesis of the corpus callosum, and septo-optic dysplasia. ( 22194387 )
2012
47
Disruption of SoxB1-dependent Sonic hedgehog expression in the hypothalamus causes septo-optic dysplasia. ( 22421044 )
2012
48
Septo-optic dysplasia and hemophagocytic lymphohistiocytosis in an infant. ( 22876565 )
2012
49
A case of schizencephaly and septo-optic dysplasia presenting with anterior encephalocele. ( 24665280 )
2012
50
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. ( 22319038 )
2012

Variations for Septooptic Dysplasia

UniProtKB/Swiss-Prot genetic disease variations for Septooptic Dysplasia:

75
# Symbol AA change Variation ID SNP ID
1 HESX1 p.Arg160Cys VAR_010225 rs28936702
2 HESX1 p.Gln6His VAR_063230 rs121909173
3 HESX1 p.Ile26Thr VAR_063231 rs28936416
4 HESX1 p.Glu149Lys VAR_063232 rs104893742
5 HESX1 p.Ser170Leu VAR_063233 rs28936703
6 HESX1 p.Thr181Ala VAR_063234 rs28936704

ClinVar genetic disease variations for Septooptic Dysplasia:

6 (show all 46)
# Gene Variation Type Significance SNP ID Assembly Location
1 HESX1 NM_003865.2(HESX1): c.478C> T (p.Arg160Cys) single nucleotide variant Pathogenic rs28936702 GRCh37 Chromosome 3, 57232305: 57232305
2 HESX1 NM_003865.2(HESX1): c.478C> T (p.Arg160Cys) single nucleotide variant Pathogenic rs28936702 GRCh38 Chromosome 3, 57198277: 57198277
3 HESX1 NM_003865.2(HESX1): c.541A> G (p.Thr181Ala) single nucleotide variant Uncertain significance rs28936704 GRCh37 Chromosome 3, 57232242: 57232242
4 HESX1 NM_003865.2(HESX1): c.541A> G (p.Thr181Ala) single nucleotide variant Uncertain significance rs28936704 GRCh38 Chromosome 3, 57198214: 57198214
5 HESX1 HESX1, 2-BP INS, 306AG insertion Pathogenic
6 HESX1 NM_003865.2(HESX1): c.77T> C (p.Ile26Thr) single nucleotide variant Pathogenic rs28936416 GRCh37 Chromosome 3, 57233870: 57233870
7 HESX1 NM_003865.2(HESX1): c.77T> C (p.Ile26Thr) single nucleotide variant Pathogenic rs28936416 GRCh38 Chromosome 3, 57199842: 57199842
8 HESX1 HESX1, 1-BP DEL, 1684G deletion Pathogenic
9 HESX1 NM_003865.2(HESX1): c.450_451delCA (p.Asp150Glufs) deletion Pathogenic rs587776664 GRCh37 Chromosome 3, 57232427: 57232428
10 HESX1 NM_003865.2(HESX1): c.450_451delCA (p.Asp150Glufs) deletion Pathogenic rs587776664 GRCh38 Chromosome 3, 57198399: 57198400
11 HESX1 NM_003865.2(HESX1): c.357+2T> C single nucleotide variant Pathogenic rs575112817 GRCh37 Chromosome 3, 57232779: 57232779
12 HESX1 NM_003865.2(HESX1): c.357+2T> C single nucleotide variant Pathogenic rs575112817 GRCh38 Chromosome 3, 57198751: 57198751
13 HESX1 NM_003865.2(HESX1): c.445G> A (p.Glu149Lys) single nucleotide variant Pathogenic rs104893742 GRCh37 Chromosome 3, 57232433: 57232433
14 HESX1 NM_003865.2(HESX1): c.445G> A (p.Glu149Lys) single nucleotide variant Pathogenic rs104893742 GRCh38 Chromosome 3, 57198405: 57198405
15 HESX1 NM_003865.2(HESX1): c.18G> C (p.Gln6His) single nucleotide variant Pathogenic rs121909173 GRCh37 Chromosome 3, 57233929: 57233929
16 HESX1 NM_003865.2(HESX1): c.18G> C (p.Gln6His) single nucleotide variant Pathogenic rs121909173 GRCh38 Chromosome 3, 57199901: 57199901
17 HESX1 NM_003865.2(HESX1): c.511_512delCA (p.Gln171Valfs) deletion Pathogenic rs752434998 GRCh37 Chromosome 3, 57232271: 57232272
18 HESX1 NM_003865.2(HESX1): c.511_512delCA (p.Gln171Valfs) deletion Pathogenic rs752434998 GRCh38 Chromosome 3, 57198243: 57198244
19 HESX1 NM_003865.2(HESX1): c.385G> A (p.Val129Ile) single nucleotide variant Uncertain significance rs143057250 GRCh37 Chromosome 3, 57232493: 57232493
20 HESX1 NM_003865.2(HESX1): c.385G> A (p.Val129Ile) single nucleotide variant Uncertain significance rs143057250 GRCh38 Chromosome 3, 57198465: 57198465
21 HESX1 NM_003865.2(HESX1): c.374A> G (p.Asn125Ser) single nucleotide variant Benign/Likely benign rs9878928 GRCh37 Chromosome 3, 57232504: 57232504
22 HESX1 NM_003865.2(HESX1): c.374A> G (p.Asn125Ser) single nucleotide variant Benign/Likely benign rs9878928 GRCh38 Chromosome 3, 57198476: 57198476
23 HESX1 NM_003865.2(HESX1): c.*192T> A single nucleotide variant Uncertain significance rs886058753 GRCh38 Chromosome 3, 57198005: 57198005
24 HESX1 NM_003865.2(HESX1): c.*192T> A single nucleotide variant Uncertain significance rs886058753 GRCh37 Chromosome 3, 57232033: 57232033
25 HESX1 NM_003865.2(HESX1): c.220G> A (p.Val74Met) single nucleotide variant Uncertain significance rs148422263 GRCh38 Chromosome 3, 57198890: 57198890
26 HESX1 NM_003865.2(HESX1): c.220G> A (p.Val74Met) single nucleotide variant Uncertain significance rs148422263 GRCh37 Chromosome 3, 57232918: 57232918
27 HESX1 NM_003865.2(HESX1): c.-201_-198delTTAA deletion Uncertain significance rs886058754 GRCh38 Chromosome 3, 57200116: 57200119
28 HESX1 NM_003865.2(HESX1): c.-201_-198delTTAA deletion Uncertain significance rs886058754 GRCh37 Chromosome 3, 57234144: 57234147
29 HESX1 NM_003865.2(HESX1): c.-230T> A single nucleotide variant Uncertain significance rs549564119 GRCh38 Chromosome 3, 57200148: 57200148
30 HESX1 NM_003865.2(HESX1): c.-230T> A single nucleotide variant Uncertain significance rs549564119 GRCh37 Chromosome 3, 57234176: 57234176
31 HESX1 NM_003865.2(HESX1): c.-245delT deletion Uncertain significance rs886058755 GRCh38 Chromosome 3, 57200163: 57200163
32 HESX1 NM_003865.2(HESX1): c.-245delT deletion Uncertain significance rs886058755 GRCh37 Chromosome 3, 57234191: 57234191
33 HESX1 NM_003865.2(HESX1): c.-276T> G single nucleotide variant Uncertain significance rs983243 GRCh38 Chromosome 3, 57200194: 57200194
34 HESX1 NM_003865.2(HESX1): c.-276T> G single nucleotide variant Uncertain significance rs983243 GRCh37 Chromosome 3, 57234222: 57234222
35 RALGAPB NM_020336.3(RALGAPB): c.2324G> T (p.Arg775Leu) single nucleotide variant Likely pathogenic rs758022116 GRCh37 Chromosome 20, 37163795: 37163795
36 RALGAPB NM_020336.3(RALGAPB): c.2324G> T (p.Arg775Leu) single nucleotide variant Likely pathogenic rs758022116 GRCh38 Chromosome 20, 38535152: 38535152
37 HESX1 NM_003865.2(HESX1): c.313T> G (p.Trp105Gly) single nucleotide variant Pathogenic rs754137696 GRCh38 Chromosome 3, 57198797: 57198797
38 HESX1 NM_003865.2(HESX1): c.313T> G (p.Trp105Gly) single nucleotide variant Pathogenic rs754137696 GRCh37 Chromosome 3, 57232825: 57232825
39 HESX1 NM_003865.2(HESX1): c.308T> A (p.Leu103Ter) single nucleotide variant Likely pathogenic rs777223697 GRCh38 Chromosome 3, 57198802: 57198802
40 HESX1 NM_003865.2(HESX1): c.308T> A (p.Leu103Ter) single nucleotide variant Likely pathogenic rs777223697 GRCh37 Chromosome 3, 57232830: 57232830
41 HESX1 NM_003865.2(HESX1): c.240delA (p.Glu81Lysfs) deletion Pathogenic rs777833871 GRCh38 Chromosome 3, 57198870: 57198870
42 HESX1 NM_003865.2(HESX1): c.240delA (p.Glu81Lysfs) deletion Pathogenic rs777833871 GRCh37 Chromosome 3, 57232898: 57232898
43 HESX1 NM_003865.2(HESX1): c.200G> A (p.Ser67Asn) single nucleotide variant Uncertain significance rs141863326 GRCh38 Chromosome 3, 57198910: 57198910
44 HESX1 NM_003865.2(HESX1): c.200G> A (p.Ser67Asn) single nucleotide variant Uncertain significance rs141863326 GRCh37 Chromosome 3, 57232938: 57232938
45 HESX1 NM_003865.2(HESX1): c.158-1G> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 57198953: 57198953
46 HESX1 NM_003865.2(HESX1): c.158-1G> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 57232981: 57232981

Copy number variations for Septooptic Dysplasia from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 176835 3 51400000 54400000 Copy number HESX1 Septo-optic dysplasia

Expression for Septooptic Dysplasia

Search GEO for disease gene expression data for Septooptic Dysplasia.

Pathways for Septooptic Dysplasia

GO Terms for Septooptic Dysplasia

Cellular components related to Septooptic Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.56 HESX1 LHX3 LHX4 POU1F1 PROP1 SIX3
2 transcription factor complex GO:0005667 8.92 LHX3 POU1F1 PROP1 SIX3

Biological processes related to Septooptic Dysplasia according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.85 LHX3 LHX4 POU1F1 PROP1 SIX3
2 negative regulation of apoptotic process GO:0043066 9.78 LHX3 LHX4 PROP1 SOD1
3 transcription by RNA polymerase II GO:0006366 9.72 LHX3 LHX4 POU1F1 PROP1 SIX3
4 animal organ morphogenesis GO:0009887 9.61 LHX3 LHX4 PROP1
5 negative regulation of neuron differentiation GO:0045665 9.52 SIX3 SOX3
6 dorsal/ventral pattern formation GO:0009953 9.51 LHX3 PROP1
7 regulation of transcription, DNA-templated GO:0006355 9.5 HESX1 LHX3 LHX4 POU1F1 PROP1 SIX3
8 motor neuron axon guidance GO:0008045 9.49 LHX3 LHX4
9 placenta development GO:0001890 9.43 LHX3 LHX4 SOD1
10 adenohypophysis development GO:0021984 9.4 POU1F1 PROP1
11 somatotropin secreting cell differentiation GO:0060126 9.37 POU1F1 PROP1
12 medial motor column neuron differentiation GO:0021526 9.16 LHX3 LHX4
13 pituitary gland development GO:0021983 9.02 HESX1 LHX3 POU1F1 SIX3 SOX3

Molecular functions related to Septooptic Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.7 HESX1 LHX3 LHX4 POU1F1 PROP1 SIX3
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.58 HESX1 LHX3 POU1F1
3 chromatin binding GO:0003682 9.54 HESX1 POU1F1 PROP1
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.5 HESX1 LHX3 LHX4 POU1F1 PROP1 SIX3
5 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.43 PROP1 SIX3
6 RNA polymerase II transcription factor binding GO:0001085 9.32 LHX3 POU1F1
7 distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001205 9.26 PROP1 SIX3
8 sequence-specific DNA binding GO:0043565 9.1 HESX1 LHX3 LHX4 POU1F1 PROP1 SIX3

Sources for Septooptic Dysplasia

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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