MCID: SPT019
MIFTS: 28

Septo-Optic Dysplasia Spectrum

Categories: Rare diseases, Eye diseases, Endocrine 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 73
Sod 53

Classifications:



Summaries for Septo-Optic Dysplasia Spectrum

NIH Rare Diseases : 53 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. Although there is no cure for this condition, the treatment is directed toward the specific symptoms in each individual. 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 microphthalmia, syndromic 5. The drugs Hormone Antagonists and Hormones have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and testes, and related phenotypes are cryptorchidism and cleft palate

Related Diseases for Septo-Optic Dysplasia Spectrum

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

# Related Disease Score Top Affiliating Genes
1 septooptic dysplasia 12.6
2 microphthalmia, syndromic 5 11.0
3 pituitary stalk interruption syndrome 11.0
4 hypopituitarism 10.1
5 arachnoiditis 10.0
6 arachnoid cysts 10.0
7 headache 10.0

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

Drugs & Therapeutics for Septo-Optic Dysplasia Spectrum

Drugs for Septo-Optic Dysplasia Spectrum (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 insulin Phase 3
6 Hypoglycemic Agents Phase 3
7 Pharmaceutical Solutions Phase 3
8 Insulin, Globin Zinc Phase 3
9
Melatonin Approved, Nutraceutical, Vet_approved Early Phase 1 73-31-4 896
10 Central Nervous System Depressants Early Phase 1
11 Antioxidants 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 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, Brain, Testes, Skin, Cerebellum

Publications for Septo-Optic Dysplasia Spectrum

Articles related to Septo-Optic Dysplasia Spectrum:

# Title Authors Year
1
Septo-optic dysplasia with growth hormone deficiency (De Morsier syndrome). ( 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 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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