SOD
MCID: SPT019
MIFTS: 28

Septo-Optic Dysplasia Spectrum (SOD)

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

Aliases & Classifications for Septo-Optic Dysplasia Spectrum

MalaCards integrated aliases for Septo-Optic Dysplasia Spectrum:

Name: Septo-Optic Dysplasia Spectrum 53
Septo-Optic Dysplasia with Growth Hormone Deficiency 53
Hypopituitarism and Septooptic 'dysplasia' 53
Septo-Optic Dysplasia 53
Septooptic Dysplasia 53
De Morsier Syndrome 53
Kallmann Syndrome 72
Sod 53

Classifications:



External Ids:

UMLS 72 C0162809

Summaries for Septo-Optic Dysplasia Spectrum

NIH Rare Diseases : 53 Septo-optic dysplasia is a disorder of early brain and eye development. The most common features are underdevelopment (hypoplasia) of the eye (optic) nerve, abnormal formation of structures along the midline of the brain such as the absence of the septum pellucidum and the corpus callosum, and a small pituitary (pituitary hypoplasia). Signs and symptoms may include blindness in one or both eyes, an abnormal pupil dilation in response to light, nystagmus (abnormal movement of the eyes), low muscular tone and hormonal problems. Additional features may include recurring seizures, delayed development, intellectual disability, jaundice (yellow-ish skin), precocious puberty, short stature, sleep problems, obesity, lack of smell (anosmia), hearing loss and heart anomalies. Although the cause is unknown in most cases, very few people with SOD may have variations (mutations) in the HESX1 OTX2, SOX2 or SOX3 genes. Other factors that may be involved are viral infections, certain medications and a blood flow disruption. 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. In these cases inheritance can be autosomal recessive or autosomal dominant. Although there is no cure for this condition, the treatment is directed toward the specific symptoms in each individual. Children with possible SOD must be kept under careful hormonal follow-up, and, if present, hormone deficiencies should be treated with hormone replacement therapy.

MalaCards based summary : Septo-Optic Dysplasia Spectrum, also known as septo-optic dysplasia with growth hormone deficiency, is related to septooptic dysplasia and pagon stephan syndrome. The drugs Zinc and Menotropins have been mentioned in the context of this disorder. Affiliated tissues include pituitary, skin and brain, and related phenotypes are visual impairment and septo-optic dysplasia

Related Diseases for Septo-Optic Dysplasia Spectrum

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

(show top 50) (show all 175)
# Related Disease Score Top Affiliating Genes
1 septooptic dysplasia 12.0
2 pagon stephan syndrome 11.9
3 central congenital hypothyroidism 11.8
4 craniotelencephalic dysplasia 11.5
5 de morsier's syndrome information 11.5
6 microphthalmia, syndromic 5 11.4
7 pituitary stalk interruption syndrome 11.4
8 schizencephaly 10.8
9 holoprosencephaly 10.6
10 isolated growth hormone deficiency 10.5
11 yemenite deaf-blind hypopigmentation syndrome 10.5
12 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.5
13 polymicrogyria 10.5
14 dwarfism 10.5
15 hypopituitarism 10.5
16 microphthalmia 10.5
17 strabismus 10.4
18 gastroschisis 10.4
19 cortical dysplasia, complex, with other brain malformations 7 10.4
20 west syndrome 10.4
21 mechanical strabismus 10.4
22 encephalocele 10.4
23 precocious puberty 10.4
24 abdominal wall defect 10.4
25 combined pituitary hormone deficiency 10.4
26 hypogonadism 10.4
27 hypogonadotropism 10.4
28 coloboma of macula 10.3
29 fryns microphthalmia syndrome 10.3
30 cerebral palsy 10.3
31 hydranencephaly 10.3
32 cleft lip 10.3
33 cleft lip/palate 10.3
34 hypogonadotropic hypogonadism 10.3
35 kallmann syndrome 10.3
36 diabetes insipidus 10.3
37 glaucoma, normal tension 10.3
38 pituitary hypoplasia 10.3
39 prop1-related combined pituitary hormone deficiency 10.3
40 optic nerve hypoplasia, bilateral 10.3
41 hypertelorism 10.3
42 retinal detachment 10.3
43 autism 10.3
44 3-methylglutaconic aciduria, type iii 10.3
45 thyrotropin-releasing hormone deficiency 10.3
46 corpus callosum, partial agenesis of, x-linked 10.3
47 autism spectrum disorder 10.3
48 omphalocele 10.3
49 gestational diabetes 10.3
50 alcohol use disorder 10.3

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



Diseases related to Septo-Optic Dysplasia Spectrum

Symptoms & Phenotypes for Septo-Optic Dysplasia Spectrum

Human phenotypes related to Septo-Optic Dysplasia Spectrum:

32 (show all 30)
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 hallmark (90%) HP:0000505
2 septo-optic dysplasia 32 hallmark (90%) HP:0100842
3 agenesis of corpus callosum 32 frequent (33%) HP:0001274
4 nystagmus 32 frequent (33%) HP:0000639
5 seizures 32 frequent (33%) HP:0001250
6 short stature 32 frequent (33%) HP:0004322
7 cleft palate 32 frequent (33%) HP:0000175
8 hemiplegia/hemiparesis 32 frequent (33%) HP:0004374
9 strabismus 32 frequent (33%) HP:0000486
10 cryptorchidism 32 frequent (33%) HP:0000028
11 hypoplasia of penis 32 frequent (33%) HP:0008736
12 anterior pituitary hypoplasia 32 frequent (33%) HP:0010627
13 obesity 32 occasional (7.5%) HP:0001513
14 intellectual disability 32 occasional (7.5%) HP:0001249
15 constipation 32 occasional (7.5%) HP:0002019
16 sleep disturbance 32 occasional (7.5%) HP:0002360
17 global developmental delay 32 occasional (7.5%) HP:0001263
18 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
19 polydipsia 32 occasional (7.5%) HP:0001959
20 fatigue 32 occasional (7.5%) HP:0012378
21 dry skin 32 occasional (7.5%) HP:0000958
22 tracheoesophageal fistula 32 occasional (7.5%) HP:0002575
23 autism 32 occasional (7.5%) HP:0000717
24 hypohidrosis 32 occasional (7.5%) HP:0000966
25 aplasia/hypoplasia of the cerebellum 32 occasional (7.5%) HP:0007360
26 diabetes insipidus 32 occasional (7.5%) HP:0000873
27 anosmia 32 occasional (7.5%) HP:0000458
28 esophageal atresia 32 occasional (7.5%) HP:0002032
29 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
30 maternal diabetes 32 occasional (7.5%) HP:0009800

Drugs & Therapeutics for Septo-Optic Dysplasia Spectrum

Drugs for Septo-Optic Dysplasia Spectrum (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 52)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 4 7440-66-6 32051
2
Menotropins Approved Phase 4 61489-71-2, 9002-68-0 5360545
3 Chorionic Gonadotropin Phase 4
4 Fertility Agents Phase 4
5 Antidepressive Agents Phase 3
6 Pharmaceutical Solutions Phase 3
7 Antidepressive Agents, Second-Generation Phase 3
8 Tryptophan Phase 3
9 Psychotropic Drugs Phase 3
10
Testosterone Approved, Experimental, Investigational Phase 2 481-30-1, 58-22-0 6013 10204
11 Prolactin Release-Inhibiting Factors Phase 2
12 Hormones Phase 2
13 Hormone Antagonists Phase 2
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
15 Follicle Stimulating Hormone Phase 2
16
Methyltestosterone Approved Phase 1 58-18-4 6010
17
Testosterone enanthate Approved Phase 1 315-37-7 9416
18
Testosterone undecanoate Approved, Investigational Phase 1 5949-44-0
19
Anastrozole Approved, Investigational Phase 1 120511-73-1 2187
20 Estrogens Phase 1
21 Androgens Phase 1
22 Anabolic Agents Phase 1
23 Antineoplastic Agents, Hormonal Phase 1
24 Testosterone 17 beta-cypionate Phase 1
25 insulin Phase 1
26 Insulin, Globin Zinc Phase 1
27 Hypoglycemic Agents Phase 1
28 Steroid Synthesis Inhibitors Phase 1
29 Estrogen Receptor Antagonists Phase 1
30 Aromatase Inhibitors Phase 1
31 Estrogen Antagonists Phase 1
32
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
33
Ketoconazole Approved, Investigational 65277-42-1 47576
34
Estrone Approved 53-16-7 5870
35
Polyestradiol phosphate Approved 28014-46-2
36
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
37
Melatonin Approved, Nutraceutical, Vet_approved Early Phase 1 73-31-4 896
38 Acyline Investigational 170157-13-8
39 Antioxidants Early Phase 1
40 Central Nervous System Depressants Early Phase 1
41 Protective Agents Early Phase 1
42 14-alpha Demethylase Inhibitors
43 Cytochrome P-450 CYP3A Inhibitors
44 Antifungal Agents
45 Cytochrome P-450 Enzyme Inhibitors
46 Anti-Infective Agents
47 Contraceptive Agents
48 Estropipate 7280-37-7
49 Trisequens
50 Drospirenone and ethinyl estradiol combination

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 Human Menopausal Gonadotropin Combining With Human Chorionic Gonadotropin is Superior to Human Chorionic Gonadotropin in Therapeutic Efficacy in Adolescent Boys With Congenital Hypogonadotropic Hypogonadism Unknown status NCT02880280 Phase 4 Human Menopausal Gonadotropin;Human Chorionic Gonadotropin
2 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
3 Efficacy and Safety of Human Chorionic Gonadotropin (HCG) and Follicle Stimulating Hormone (FSH) in the Treatment of Hypogonadotropic Hypogonadism Completed NCT01403532 Phase 4 Traditional intervention for HH using HCG and FSH;Sequential intervention for HH using HCG and FSH;Sequential intervention for HH using HCG and FSH plus zinc
4 Efficacy and Safety of Long Term Use of hCG or hCG Plus hMG in the Treatment of Male Patients With Isolated Hypogonadotropic Hypogonadism: an Open, Randomized Controlled Study Not yet recruiting NCT03687606 Phase 4 Human Chorionic Gonadotropin;human menopausal gonadotropin
5 Confirmatory Validation of Oral Macimorelin as a Growth Hormone (GH) Stimulation Test (ST) for the Diagnosis of Adult Growth Hormone Deficiency (AGHD) in Comparison With the Insulin Tolerance Test (ITT) Completed NCT02558829 Phase 3 Macimorelin;Insulin
6 Pulsatile GnRH in Anovulatory Infertility Recruiting NCT00383656 Phase 2 GnRH
7 Role of FSH in Human Gonadal Development Terminated NCT00064987 Phase 2 gonadotropin releasing hormone (GnRH);follicle stimulating hormone (FSH)
8 Kisspeptin in the Evaluation of Delayed Puberty Recruiting NCT01438034 Phase 1 kisspeptin 112-121;GnRH
9 Kisspeptin Administration in the Adult Recruiting NCT00914823 Phase 1 kisspeptin 112-121;GnRH
10 Effect of Varying Testosterone Levels on Insulin Sensitivity in Men With Idiopathic Hypogonadotropic Hypogonadism Terminated NCT03118479 Phase 1 Anastrozole Pill;Testosterone;Placebo Oral Tablet
11 Identification and Treatment of Biological Clock Dysfunction in Optic Nerve Hypoplasia Unknown status NCT00825591 Early Phase 1
12 Factors Affecting Health Promoting Behavior in Rare Disease Patients: A Mixed Methods Study of Men With Congenital Hypogonadotropic Hypogonadism (CHH) Completed NCT01914172
13 Feedback Control of FSH Secretion in the Human Male Completed NCT00392457 ketoconazole;gonadotropin releasing hormone (GnRH)
14 Effect of Varying Testosterone Levels on Insulin Sensitivity in Normal and IHH Men Completed NCT00470990 GnRH antagonist (Acyline)
15 The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome) Recruiting NCT01601171
16 Role of Gonadotropin Pulsations in the Reversal of Hypogonadotropic Hypogonadism Recruiting NCT00392756 gonadotropin releasing hormone (GnRH)
17 Molecular Basis of Inherited Reproductive Disorders Recruiting NCT00494169
18 The Molecular Basis of Inherited Reproductive Disorders Recruiting NCT01500447
19 Baselines in Reproductive Disorders Recruiting NCT00456274
20 The Role of Gonadotropin Pulsations in the Regulation of Puberty and Fertility Recruiting NCT01511588
21 The Effects of 7 Days of Exogenous Pulsatile GnRH Treatment on the Pituitary-Gonadal Axis in Hypogonadotropic Hypogonadal Subjects Active, not recruiting NCT00493961 gonadotropin releasing hormone (GnRH)
22 Kallmann Syndrome in Finland Enrolling by invitation NCT00623116 Short withdrawal of testosterone, gonadotropins or estrogenic compounds (see below)
23 Psychological Outcomes in Isolated GNRH Deficiency Terminated NCT02356172

Search NIH Clinical Center for Septo-Optic Dysplasia Spectrum

Genetic Tests for Septo-Optic Dysplasia Spectrum

Anatomical Context for Septo-Optic Dysplasia Spectrum

MalaCards organs/tissues related to Septo-Optic Dysplasia Spectrum:

41
Pituitary, Skin, Brain, Heart, Eye, Testes, Cerebellum

Publications for Septo-Optic Dysplasia Spectrum

Articles related to Septo-Optic Dysplasia Spectrum:

# Title Authors PMID Year
1
Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age - A EUROCAT study. 6
29753093 2018
2
New insights into septo-optic dysplasia. 6
24802313 2014
3
Increasing incidence of optic nerve hypoplasia/septo-optic dysplasia spectrum: Geographic clustering in Northern Canada. 38
29479262 2017
4
Midbrain-hindbrain involvement in septo-optic dysplasia. 38
24763416 2014
5
Septo-optic dysplasia with growth hormone deficiency (De Morsier syndrome). 38
4647051 1972

Variations for Septo-Optic Dysplasia Spectrum

Expression for Septo-Optic Dysplasia Spectrum

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

Pathways for Septo-Optic Dysplasia Spectrum

GO Terms for Septo-Optic Dysplasia Spectrum

Sources for Septo-Optic Dysplasia Spectrum

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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