MCID: SPT019
MIFTS: 27

Septo-Optic Dysplasia Spectrum

Categories: Rare diseases, Endocrine diseases, Eye diseases

Aliases & Classifications for Septo-Optic Dysplasia Spectrum

MalaCards integrated aliases for Septo-Optic Dysplasia Spectrum:

Name: Septo-Optic Dysplasia Spectrum 49
Septo-Optic Dysplasia with Growth Hormone Deficiency 49
Hypopituitarism and Septooptic 'dysplasia' 49
Septo-Optic Dysplasia 49
Septooptic Dysplasia 49
De Morsier Syndrome 49
Kallmann Syndrome 69
Sod 49

Classifications:



Summaries for Septo-Optic Dysplasia Spectrum

NIH Rare Diseases : 49 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. Last updated: 1/25/2017

MalaCards based summary : Septo-Optic Dysplasia Spectrum, also known as septo-optic dysplasia with growth hormone deficiency, is related to hypopituitarism and septooptic dysplasia, and has symptoms including cryptorchidism, cleft palate and sensorineural hearing impairment. The drugs Hormone Antagonists and Hormones have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and testes.

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 hypopituitarism 10.2
2 septooptic dysplasia 10.0

Symptoms & Phenotypes for Septo-Optic Dysplasia Spectrum

Human phenotypes related to Septo-Optic Dysplasia Spectrum:

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 31 frequent (33%) HP:0000028
2 cleft palate 31 frequent (33%) HP:0000175
3 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
4 anosmia 31 occasional (7.5%) HP:0000458
5 strabismus 31 frequent (33%) HP:0000486
6 visual impairment 31 hallmark (90%) HP:0000505
7 nystagmus 31 frequent (33%) HP:0000639
8 autism 31 occasional (7.5%) HP:0000717
9 diabetes insipidus 31 occasional (7.5%) HP:0000873
10 dry skin 31 occasional (7.5%) HP:0000958
11 hypohidrosis 31 occasional (7.5%) HP:0000966
12 intellectual disability 31 occasional (7.5%) HP:0001249
13 seizures 31 frequent (33%) HP:0001250
14 global developmental delay 31 occasional (7.5%) HP:0001263
15 agenesis of corpus callosum 31 frequent (33%) HP:0001274
16 obesity 31 occasional (7.5%) HP:0001513
17 polydipsia 31 occasional (7.5%) HP:0001959
18 constipation 31 occasional (7.5%) HP:0002019
19 esophageal atresia 31 occasional (7.5%) HP:0002032
20 sleep disturbance 31 occasional (7.5%) HP:0002360
21 tracheoesophageal fistula 31 occasional (7.5%) HP:0002575
22 short stature 31 frequent (33%) HP:0004322
23 hemiplegia/hemiparesis 31 frequent (33%) HP:0004374
24 aplasia/hypoplasia of the cerebellum 31 occasional (7.5%) HP:0007360
25 hypoplasia of penis 31 frequent (33%) HP:0008736
26 maternal diabetes 31 occasional (7.5%) HP:0009800
27 anterior pituitary hypoplasia 31 frequent (33%) HP:0010627
28 fatigue 31 occasional (7.5%) HP:0012378
29 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
30 septo-optic dysplasia 31 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 32051 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 Protective Agents Early Phase 1
12 Antioxidants 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:

38
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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