Septooptic Dysplasia (SOD) malady

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

Aliases & Classifications for Septooptic Dysplasia

Aliases & Descriptions for Septooptic Dysplasia:

Name: Septooptic Dysplasia 54 12 24 25 66 14
Septo-Optic Dysplasia 12 25 51 29 52 42
De Morsier Syndrome 12 24 25 66 52
Growth Hormone Deficiency with Pituitary Anomalies 54 66 13 69
Sod 12 25 66
Pituitary Hormone Deficiency, Combined, 5 54 66
Septo-Optic Dysplasia with Growth Hormone Deficiency 66
Kallmann Syndrome 69
Cphd5 66
Ghdpa 66



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


External Ids:

OMIM 54 182230
Disease Ontology 12 DOID:0060857
ICD10 33 Q04.8 Q04.4
UMLS 69 C0338503

Summaries for Septooptic Dysplasia

UniProtKB/Swiss-Prot : 66 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 hesx1-related combined pituitary hormone deficiency and septo-optic dysplasia spectrum, and has symptoms including agenesis of corpus callosum, global developmental delay and short stature. 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 endocrine/exocrine gland and growth/size/body region

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 : 54 Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve... (182230) more...

NINDS : 51 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.

Related Diseases for Septooptic Dysplasia

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

(show all 34)
id Related Disease Score Top Affiliating Genes
1 hesx1-related combined pituitary hormone deficiency 11.2
2 septo-optic dysplasia spectrum 11.1
3 pituitary hormone deficiency, combined, 1 10.9
4 pituitary stalk interruption syndrome 10.9
5 potter's syndrome 10.1 LHX3 PROP1
6 hypopituitarism 10.1
7 caudal regression syndrome 10.1 POU1F1 PROP1
8 microvascular complications of diabetes 3 10.1 HESX1 POU1F1
9 rheumatic encephalitis 10.0 POU1F1 PROP1
10 rolandic epilepsy, mental retardation, and speech dyspraxia 10.0 HESX1 SOX3
11 epidural neoplasm 10.0 HESX1 LHX3 PROP1
12 gastrointestinal defects and immunodeficiency syndrome 10.0 HESX1 SIX3
13 arachnoiditis 9.9
14 arachnoid cysts 9.9
15 headache 9.9
16 adult i blood group with or without congenital cataract 9.8 HESX1 LHX3 POU1F1 PROP1
17 cat eye syndrome 9.8
18 growth hormone deficiency 9.8
19 small cell carcinoma 9.8 SIX3 SOX3
20 gynandroblastoma 9.8 HESX1 POU1F1 SOX3
21 mental retardation, x-linked syndromic, christianson type 9.8 POU1F1 PROP1 SOX3
22 congenital amputation 9.8 HESX1 LHX4 POU1F1 PROP1
23 fibrous dysplasia 9.8 SIX3 SOX3
24 angiodysplasia 9.7 SIX3 SOX3
25 shaver's disease 9.7 HESX1 LHX3 POU1F1 PROP1 SOD1
26 idiopathic hypersomnia without long sleep time 9.7 HESX1 LHX3 LHX4 POU1F1 PROP1
27 early-onset glaucoma 9.7 HESX1 LHX3 LHX4 POU1F1 PROP1
28 urethra clear cell adenocarcinoma 9.7 HESX1 LHX3 LHX4 POU1F1 PROP1
29 plasmalogens synthesis deficiency isolated 9.6 HESX1 LHX4 POU1F1 SOX3
30 l-cell glucagon-like peptide producing tumor 9.5 HESX1 LHX3 LHX4 POU1F1 SOX3
31 ossification of the posterior longitudinal ligament of spine 9.4 HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
32 mucopolysaccharidosis type vi 9.4 HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
33 cervix squamous papilloma 9.3 HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
34 aminoacylase 1 deficiency 8.9 HESX1 LHX3 LHX4 POU1F1 PROP1 SIX3

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

Diseases related to Septooptic Dysplasia

Symptoms & Phenotypes for Septooptic Dysplasia

Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Septooptic Dysplasia:

32 (show all 11)
id 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

UMLS symptoms related to Septooptic Dysplasia:


MGI Mouse Phenotypes related to Septooptic Dysplasia:

id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.91 HESX1 LHX3 LHX4 POU1F1 PROP1 SOD1
2 growth/size/body region MP:0005378 9.87 SOX3 HESX1 LHX3 POU1F1 PROP1 SIX3
3 craniofacial MP:0005382 9.8 HESX1 LHX3 POU1F1 SIX3 SOX3
4 mortality/aging MP:0010768 9.76 HESX1 LHX3 LHX4 POU1F1 PROP1 SIX3
5 hearing/vestibular/ear MP:0005377 9.56 HESX1 LHX3 POU1F1 SOD1
6 nervous system MP:0003631 9.56 SIX3 SOD1 SOX3 HESX1 LHX3 LHX4
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)
id 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
Zinc Approved Phase 3 7440-66-6 32051 23994
5 Hypoglycemic Agents Phase 3
6 insulin Phase 3
7 Insulin, Globin Zinc Phase 3
8 Pharmaceutical Solutions Phase 3
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:

id Name Status NCT ID Phase
1 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4
2 Validation of Macimorelin as a Test for Adult Growth Hormone Deficiency Completed NCT02558829 Phase 3
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:

id Genetic test Affiliating Genes
1 Septo-Optic Dysplasia 29
2 Septooptic Dysplasia 24 HESX1

Anatomical Context for Septooptic Dysplasia

MalaCards organs/tissues related to Septooptic Dysplasia:

Pituitary, Brain, Skin, Eye, Thyroid

Publications for Septooptic Dysplasia

Articles related to Septooptic Dysplasia:

id Title Authors Year
Septooptic Dysplasia with an Associated Arachnoid Cyst. ( 27891281 )
Increased Intraocular Pressure in a Patient With Septooptic Dysplasia: A Case Report. ( 27136085 )
Incidental discovery of subtle-variant septooptic dysplasia in an adult with headaches: a novel case with pathophysiologic implications. ( 23333409 )
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. ( 17148560 )
Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia. ( 14557462 )
Septooptic dysplasia. ( 12733175 )
Septooptic dysplasia (de Morsier syndrome). ( 3999191 )

Variations for Septooptic Dysplasia

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

id 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
7 HESX1 p.Arg109Gln VAR_078488

ClinVar genetic disease variations for Septooptic Dysplasia:

id 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.541A> G (p.Thr181Ala) single nucleotide variant Pathogenic rs28936704 GRCh37 Chromosome 3, 57232242: 57232242
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 HESX1, 1-BP DEL, 1684G deletion Pathogenic
6 HESX1 NM_003865.2(HESX1): c.450_451delCA (p.Asp150Glufs) deletion Pathogenic rs587776664 GRCh37 Chromosome 3, 57232427: 57232428
7 HESX1 NM_003865.2(HESX1): c.357+2T> C single nucleotide variant Pathogenic rs575112817 GRCh37 Chromosome 3, 57232779: 57232779
8 HESX1 NM_003865.2(HESX1): c.445G> A (p.Glu149Lys) single nucleotide variant Pathogenic rs104893742 GRCh37 Chromosome 3, 57232433: 57232433
9 HESX1 NM_003865.2(HESX1): c.18G> C (p.Gln6His) single nucleotide variant Pathogenic rs121909173 GRCh37 Chromosome 3, 57233929: 57233929
10 HESX1 NM_003865.2(HESX1): c.511_512delCA (p.Gln171Valfs) deletion Pathogenic rs752434998 GRCh37 Chromosome 3, 57232271: 57232272

Copy number variations for Septooptic Dysplasia from CNVD:

id 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:

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.23 HESX1 LHX3 LHX4 POU1F1 PROP1 SIX3
2 transcription factor complex GO:0005667 9.13 LHX3 POU1F1 PROP1

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 transcription, DNA-templated GO:0006351 9.97 HESX1 LHX3 LHX4 POU1F1 SIX3 SOX3
2 regulation of transcription, DNA-templated GO:0006355 9.87 HESX1 LHX3 LHX4 POU1F1 PROP1 SIX3
3 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.85 LHX3 POU1F1 PROP1 SIX3
4 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.81 HESX1 POU1F1 PROP1 SOX3
5 transcription from RNA polymerase II promoter GO:0006366 9.78 LHX3 POU1F1 PROP1 SIX3
6 negative regulation of apoptotic process GO:0043066 9.73 LHX3 LHX4 PROP1 SOD1
7 animal organ morphogenesis GO:0009887 9.58 LHX3 LHX4 PROP1
8 negative regulation of neuron differentiation GO:0045665 9.54 SIX3 SOX3
9 dorsal/ventral pattern formation GO:0009953 9.52 LHX3 PROP1
10 motor neuron axon guidance GO:0008045 9.46 LHX3 LHX4
11 adenohypophysis development GO:0021984 9.37 POU1F1 PROP1
12 placenta development GO:0001890 9.33 LHX3 LHX4 SOD1
13 somatotropin secreting cell differentiation GO:0060126 9.26 POU1F1 PROP1
14 pituitary gland development GO:0021983 9.02 HESX1 LHX3 POU1F1 SIX3 SOX3
15 medial motor column neuron differentiation GO:0021526 8.96 LHX3 LHX4

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

id Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.58 HESX1 POU1F1 PROP1
2 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.5 HESX1 LHX3 POU1F1
3 DNA binding GO:0003677 9.5 HESX1 LHX3 LHX4 POU1F1 PROP1 SIX3
4 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.37 PROP1 SIX3
5 RNA polymerase II transcription factor binding GO:0001085 9.26 LHX3 POU1F1
6 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding GO:0001205 9.16 PROP1 SIX3
7 sequence-specific DNA binding GO:0043565 9.1 HESX1 LHX3 LHX4 POU1F1 PROP1 SIX3

Sources for Septooptic Dysplasia

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
65 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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