MCID: SPT006
MIFTS: 52

Septooptic Dysplasia

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Endocrine 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 growth hormone deficiency. An important gene associated with Septooptic Dysplasia is HESX1 (HESX Homeobox 1). The drugs Hormone Antagonists and Hormones have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and skin, 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 all 28)
# Related Disease Score Top Affiliating Genes
1 pituitary stalk interruption syndrome 31.0 HESX1 POU1F1 SOX3
2 growth hormone deficiency 29.5 HESX1 SOX3
3 hypopituitarism 28.2 HESX1 LHX3 POU1F1 PROP1 SOX3
4 septo-optic dysplasia spectrum 11.2
5 microphthalmia, syndromic 5 11.0
6 central nervous system organ benign neoplasm 10.2 HESX1 PROP1
7 neonatal thyrotoxicosis 10.2 LHX3 PROP1
8 isolated growth hormone deficiency, type iii 10.2 HESX1 SOX3
9 isolated growth hormone deficiency, type ii 10.0 HESX1 POU1F1
10 hypothyroidism, congenital, nongoitrous, 4 10.0 POU1F1 PROP1
11 arachnoiditis 10.0
12 arachnoid cysts 10.0
13 headache 10.0
14 cat eye syndrome 9.9
15 pituitary tumors 9.8 POU1F1 PROP1
16 combined pituitary hormone deficiencies, genetic forms 9.8 HESX1 POU1F1 PROP1
17 kallmann syndrome 9.7 HESX1 LHX3 PROP1
18 pituitary hormone deficiency, combined, 1 9.7 HESX1 LHX3 POU1F1
19 schizencephaly 9.6 HESX1 SIX3
20 craniopharyngioma 9.5 POU1F1 PROP1
21 hypothyroidism due to deficient transcription factors involved in pituitary development or function 9.3 HESX1 LHX3 POU1F1 PROP1
22 combined pituitary hormone deficiency 9.3 HESX1 LHX3 POU1F1 PROP1
23 pituitary gland disease 9.2 HESX1 LHX3 POU1F1 PROP1
24 hypothyroidism 9.2 HESX1 LHX3 POU1F1 PROP1
25 isolated growth hormone deficiency 9.2 HESX1 POU1F1 PROP1 SOX3
26 pituitary hypoplasia 9.1 HESX1 LHX3 POU1F1 SOX3
27 pituitary hormone deficiency, combined, 2 8.7 HESX1 LHX3 POU1F1 PROP1 SOX3
28 borjeson-forssman-lehmann syndrome 8.7 HESX1 LHX3 POU1F1 PROP1 SOX3

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 growth/size/body region MP:0005378 9.87 POU1F1 PROP1 SIX3 SOD1 SOX3 HESX1
2 endocrine/exocrine gland MP:0005379 9.85 HESX1 LHX3 POU1F1 PROP1 SOD1 SOX3
3 craniofacial MP:0005382 9.8 HESX1 LHX3 POU1F1 SIX3 SOX3
4 mortality/aging MP:0010768 9.7 HESX1 LHX3 POU1F1 PROP1 SIX3 SOD1
5 hearing/vestibular/ear MP:0005377 9.56 HESX1 LHX3 POU1F1 SOD1
6 nervous system MP:0003631 9.5 HESX1 LHX3 POU1F1 PROP1 SIX3 SOD1
7 reproductive system MP:0005389 9.02 LHX3 POU1F1 PROP1 SOD1 SOX3

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 Phase 4,Phase 3
3 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
4
Zinc Approved, Investigational Phase 3 7440-66-6 23994
5 Hypoglycemic Agents Phase 3
6 insulin Phase 3
7 Insulin, Globin Zinc Phase 3
8 Pharmaceutical Solutions Phase 3
9
Melatonin Approved, Nutraceutical, Vet_approved Early Phase 1 73-31-4 896
10 Antioxidants Early Phase 1
11 Central Nervous System Depressants Early Phase 1
12 Protective Agents 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, Skin, Eye, Thyroid, Testes, Hypothalamus

Publications for Septooptic Dysplasia

Articles related to Septooptic Dysplasia:

(show top 50) (show all 201)
# Title Authors Year
1
Bilateral Exudative Retinal Detachment in Septo-Optic Dysplasia. ( 29317570 )
2017
2
Increased Intraocular Pressure in a Patient With Septooptic Dysplasia: A Case Report. ( 27136085 )
2016
3
A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes. ( 26781211 )
2016
4
Septooptic Dysplasia with an Associated Arachnoid Cyst. ( 27891281 )
2016
5
Gastroschisis Complicated by Septo-Optic Dysplasia: Two Distinct Anomalies with a Common Origin. ( 26929863 )
2016
6
Spectrum of clinical presentations and endocrinological findings of patients with septo-optic dysplasia: a retrospective study. ( 25879316 )
2015
7
Novel application of luciferase assay for the inA vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD). ( 26375424 )
2015
8
Septo-optic Dysplasia Complex with Omphalocele, Pre-maxillary Agenesis and Encephalocele. ( 25848158 )
2015
9
Mutations in TAX1BP3 Cause Dilated Cardiomyopathy with Septo-Optic Dysplasia. ( 25645515 )
2015
10
Unilateral closed lip schizencephaly with septo-optic dysplasia. ( 24761255 )
2014
11
Septo-optic dysplasia plus: a case report. ( 24678945 )
2014
12
Utilizing optical coherence tomography in diagnosing a unique presentation of chiasmal hypoplasia variant of septo-optic dysplasia. ( 24451551 )
2014
13
Acceleration of puberty during growth hormone therapy in a child with septo-optic dysplasia. ( 24932606 )
2014
14
A giant renal angiomyolipoma (AML) in a patient with septo-optic dysplasia (SOD). ( 25199882 )
2014
15
Midbrain-hindbrain involvement in septo-optic dysplasia. ( 24763416 )
2014
16
SEPTO-OPTIC DYSPLASIA ASSOCIATED WITH CONGENITAL PERSISTENT FETAL VASCULATURE, RETINAL DETACHMENT, AND GASTROSCHISIS. ( 25397592 )
2014
17
New insights into septo-optic dysplasia. ( 24802313 )
2014
18
Septo-optic dysplasia in a patient with an unbalanced 5;12 translocation. ( 23827435 )
2013
19
Diagnosis of septo-optic dysplasia in a neonate with hypernatremia, hypoglycemia, and persistent hypothermia. ( 23813351 )
2013
20
Septo-optic dysplasia: illustration of a case. ( 24203814 )
2013
21
Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia. ( 23386640 )
2013
22
The identification and measurement of autistic features in children with septo-optic dysplasia, optic nerve hypoplasia and isolated hypopituitarism. ( 24210356 )
2013
23
Septo-optic dysplasia complex: Clinical and radiological manifestations in Omani children. ( 24379556 )
2013
24
Vascular cerebral anomalies associated with Septo-Optic Dysplasia. A case report. ( 23859170 )
2013
25
Septo-optic dysplasia plus bilateral perisylvian polymicrogyria: a case report. ( 23124487 )
2013
26
Septo-optic dysplasia: fitting the pieces together. ( 23709551 )
2013
27
Incidental discovery of subtle-variant septooptic dysplasia in an adult with headaches: a novel case with pathophysiologic implications. ( 23333409 )
2013
28
Septo-optic dysplasia-plus and dyskinetic cerebral palsy in a child. ( 21533562 )
2012
29
Anorchia masked by septo-optic dysplasia. ( 22196414 )
2012
30
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
31
Disruption of SoxB1-dependent Sonic hedgehog expression in the hypothalamus causes septo-optic dysplasia. ( 22421044 )
2012
32
Septo-optic dysplasia and hemophagocytic lymphohistiocytosis in an infant. ( 22876565 )
2012
33
A case of schizencephaly and septo-optic dysplasia presenting with anterior encephalocele. ( 24665280 )
2012
34
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. ( 22319038 )
2012
35
Septo-optic dysplasia: antenatal risk factors and clinical features in a regional study. ( 22907285 )
2012
36
Septo-optic dysplasia: an autopsy study of a 23-week fetus. ( 22192704 )
2012
37
Septo-optic dysplasia in childhood: the neurological, cognitive and neuro-ophthalmological perspective. ( 22924461 )
2012
38
The association of sphenoidal encephalocele and right anophthalmia with septo-optic dysplasia: a case report. ( 22665004 )
2012
39
Posterior pituitary (PP) evaluation in patients with anterior pituitary defect associated with ectopic PP and septo-optic dysplasia. ( 21750044 )
2011
40
Peripheral retinal nonperfusion in septo-optic dysplasia (de Morsier syndrome). ( 21555628 )
2011
41
Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond. ( 21396578 )
2011
42
Unmasking of Partial Diabetes Insipidus during Stress but Not Maintenance Dosing of Glucocorticoids in an Infant with Septo-Optic Dysplasia. ( 21603211 )
2011
43
Septo-optic dysplasia complicated by infantile spasms and bilateral choroidal fissure arachnoid cysts. ( 20002969 )
2011
44
Septo-optic dysplasia syndrome with schizencephaly and sudden visual loss. A new observation. ( 21677624 )
2011
45
Presenting features and long-term effects of growth hormone treatment of children with optic nerve hypoplasia/septo-optic dysplasia. ( 22085631 )
2011
46
Peripheral retinal nonperfusion in septo-optic dysplasia. ( 22084233 )
2011
47
Social communication difficulties and autism spectrum disorder in young children with optic nerve hypoplasia and/or septo-optic dysplasia. ( 20370811 )
2010
48
Septo-optic dysplasia plus: a patient with diabetes insipidus. ( 20682211 )
2010
49
Rest-activity disturbances in children with septo-optic dysplasia characterized by actigraphy and 24-hour plasma melatonin profiles. ( 20660044 )
2010
50
Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency. ( 20694410 )
2010

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 HESX1, 2-BP INS, 306AG insertion Pathogenic
4 HESX1 NM_003865.2(HESX1): c.77T> C (p.Ile26Thr) single nucleotide variant Pathogenic rs28936416 GRCh37 Chromosome 3, 57233870: 57233870
5 HESX1 NM_003865.2(HESX1): c.77T> C (p.Ile26Thr) single nucleotide variant Pathogenic rs28936416 GRCh38 Chromosome 3, 57199842: 57199842
6 HESX1 HESX1, 1-BP DEL, 1684G deletion Pathogenic
7 HESX1 NM_003865.2(HESX1): c.450_451delCA (p.Asp150Glufs) deletion Pathogenic rs587776664 GRCh37 Chromosome 3, 57232427: 57232428
8 HESX1 NM_003865.2(HESX1): c.450_451delCA (p.Asp150Glufs) deletion Pathogenic rs587776664 GRCh38 Chromosome 3, 57198399: 57198400
9 HESX1 NM_003865.2(HESX1): c.357+2T> C single nucleotide variant Pathogenic rs575112817 GRCh37 Chromosome 3, 57232779: 57232779
10 HESX1 NM_003865.2(HESX1): c.357+2T> C single nucleotide variant Pathogenic rs575112817 GRCh38 Chromosome 3, 57198751: 57198751
11 HESX1 NM_003865.2(HESX1): c.445G> A (p.Glu149Lys) single nucleotide variant Pathogenic rs104893742 GRCh37 Chromosome 3, 57232433: 57232433
12 HESX1 NM_003865.2(HESX1): c.445G> A (p.Glu149Lys) single nucleotide variant Pathogenic rs104893742 GRCh38 Chromosome 3, 57198405: 57198405
13 HESX1 NM_003865.2(HESX1): c.18G> C (p.Gln6His) single nucleotide variant Pathogenic rs121909173 GRCh37 Chromosome 3, 57233929: 57233929
14 HESX1 NM_003865.2(HESX1): c.18G> C (p.Gln6His) single nucleotide variant Pathogenic rs121909173 GRCh38 Chromosome 3, 57199901: 57199901
15 HESX1 NM_003865.2(HESX1): c.511_512delCA (p.Gln171Valfs) deletion Pathogenic rs752434998 GRCh37 Chromosome 3, 57232271: 57232272
16 HESX1 NM_003865.2(HESX1): c.511_512delCA (p.Gln171Valfs) deletion Pathogenic rs752434998 GRCh38 Chromosome 3, 57198243: 57198244
17 HESX1 NM_003865.2(HESX1): c.385G> A (p.Val129Ile) single nucleotide variant Uncertain significance rs143057250 GRCh37 Chromosome 3, 57232493: 57232493
18 HESX1 NM_003865.2(HESX1): c.385G> A (p.Val129Ile) single nucleotide variant Uncertain significance rs143057250 GRCh38 Chromosome 3, 57198465: 57198465
19 HESX1 NM_003865.2(HESX1): c.374A> G (p.Asn125Ser) single nucleotide variant Benign/Likely benign rs9878928 GRCh37 Chromosome 3, 57232504: 57232504
20 HESX1 NM_003865.2(HESX1): c.374A> G (p.Asn125Ser) single nucleotide variant Benign/Likely benign rs9878928 GRCh38 Chromosome 3, 57198476: 57198476
21 HESX1 NM_003865.2(HESX1): c.*192T> A single nucleotide variant Uncertain significance rs886058753 GRCh38 Chromosome 3, 57198005: 57198005
22 HESX1 NM_003865.2(HESX1): c.*192T> A single nucleotide variant Uncertain significance rs886058753 GRCh37 Chromosome 3, 57232033: 57232033
23 HESX1 NM_003865.2(HESX1): c.220G> A (p.Val74Met) single nucleotide variant Uncertain significance rs148422263 GRCh38 Chromosome 3, 57198890: 57198890
24 HESX1 NM_003865.2(HESX1): c.220G> A (p.Val74Met) single nucleotide variant Uncertain significance rs148422263 GRCh37 Chromosome 3, 57232918: 57232918
25 HESX1 NM_003865.2(HESX1): c.-201_-198delTTAA deletion Uncertain significance rs886058754 GRCh38 Chromosome 3, 57200116: 57200119
26 HESX1 NM_003865.2(HESX1): c.-201_-198delTTAA deletion Uncertain significance rs886058754 GRCh37 Chromosome 3, 57234144: 57234147
27 HESX1 NM_003865.2(HESX1): c.-230T> A single nucleotide variant Uncertain significance rs549564119 GRCh37 Chromosome 3, 57234176: 57234176
28 HESX1 NM_003865.2(HESX1): c.-230T> A single nucleotide variant Uncertain significance rs549564119 GRCh38 Chromosome 3, 57200148: 57200148
29 HESX1 NM_003865.2(HESX1): c.-245delT deletion Uncertain significance rs886058755 GRCh38 Chromosome 3, 57200163: 57200163
30 HESX1 NM_003865.2(HESX1): c.-245delT deletion Uncertain significance rs886058755 GRCh37 Chromosome 3, 57234191: 57234191
31 HESX1 NM_003865.2(HESX1): c.-276T> G single nucleotide variant Uncertain significance rs983243 GRCh38 Chromosome 3, 57200194: 57200194
32 HESX1 NM_003865.2(HESX1): c.-276T> G single nucleotide variant Uncertain significance rs983243 GRCh37 Chromosome 3, 57234222: 57234222
33 RALGAPB NM_020336.3(RALGAPB): c.2324G> T (p.Arg775Leu) single nucleotide variant Likely pathogenic rs758022116 GRCh37 Chromosome 20, 37163795: 37163795
34 RALGAPB NM_020336.3(RALGAPB): c.2324G> T (p.Arg775Leu) single nucleotide variant Likely pathogenic rs758022116 GRCh38 Chromosome 20, 38535152: 38535152
35 RALGAPB NM_020336.3(RALGAPB): c.1918A> G (p.Lys640Glu) single nucleotide variant no interpretation for the single variant rs546763036 GRCh37 Chromosome 20, 37154553: 37154553
36 RALGAPB NM_020336.3(RALGAPB): c.1918A> G (p.Lys640Glu) single nucleotide variant no interpretation for the single variant rs546763036 GRCh38 Chromosome 20, 38525910: 38525910
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 Pathogenic/Likely pathogenic rs777223697 GRCh38 Chromosome 3, 57198802: 57198802
40 HESX1 NM_003865.2(HESX1): c.308T> A (p.Leu103Ter) single nucleotide variant Pathogenic/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 9.5 HESX1 LHX3 POU1F1 PROP1 SIX3 SOD1
2 transcription factor complex GO:0005667 8.8 LHX3 POU1F1 PROP1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 transcription, DNA-templated GO:0006351 9.92 HESX1 LHX3 POU1F1 SIX3 SOX3
2 regulation of transcription, DNA-templated GO:0006355 9.85 HESX1 LHX3 POU1F1 PROP1 SIX3 SOX3
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.81 LHX3 POU1F1 PROP1 SIX3
4 negative regulation of transcription by RNA polymerase II GO:0000122 9.71 HESX1 POU1F1 PROP1 SOX3
5 transcription by RNA polymerase II GO:0006366 9.62 LHX3 POU1F1 PROP1 SIX3
6 negative regulation of neuron differentiation GO:0045665 9.49 SIX3 SOX3
7 response to heat GO:0009408 9.48 MT-CYB SOD1
8 dorsal/ventral pattern formation GO:0009953 9.46 LHX3 PROP1
9 placenta development GO:0001890 9.43 LHX3 SOD1
10 response to copper ion GO:0046688 9.26 MT-CYB SOD1
11 adenohypophysis development GO:0021984 9.16 POU1F1 PROP1
12 pituitary gland development GO:0021983 9.02 HESX1 LHX3 POU1F1 SIX3 SOX3
13 somatotropin secreting cell differentiation GO:0060126 8.96 POU1F1 PROP1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.63 HESX1 LHX3 POU1F1 PROP1 SIX3 SOX3
2 chromatin binding GO:0003682 9.61 HESX1 POU1F1 PROP1
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.54 HESX1 LHX3 POU1F1
4 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.43 HESX1 LHX3 POU1F1 PROP1 SIX3 SOX3
5 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.4 PROP1 SIX3
6 RNA polymerase II transcription factor binding GO:0001085 9.32 LHX3 POU1F1
7 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific DNA binding GO:0001205 9.26 PROP1 SIX3
8 sequence-specific DNA binding GO:0043565 9.02 HESX1 LHX3 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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