MCID: SPT006
MIFTS: 36

Septooptic Dysplasia malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Endocrine diseases categories

Aliases & Classifications for Septooptic Dysplasia

About this section

Septooptic Dysplasia, Aliases & Descriptions:

Name: Septooptic Dysplasia 45 41 20 21
Septo-Optic Dysplasia 41 21 42 43
Growth Hormone Deficiency with Pituitary Anomalies 45 10 60
De Morsier Syndrome 41 21 43
Pituitary Hormone Deficiency, Combined, 5 45 22
Sod 41 21
 
Septo-Optic Dysplasia with Growth Hormone Deficiency 41
Hypopituitarism and Septooptic 'dysplasia' 41
Septo-Optic Dysplasia Spectrum 41
De Morsier's Syndrome 42
Kallmann Syndrome 60


Classifications:



External Ids:

OMIM45 182230
ICD1025 Q04.4

Summaries for Septooptic Dysplasia

About this section


NINDS:42 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 and mental retardation. Most, however, are developmentally delayed due to vision impairment or neurological problems.

MalaCards based summary: Septooptic Dysplasia, also known as septo-optic dysplasia, is related to pituitary hypoplasia and optic nerve hypoplasia, and has symptoms including autosomal dominant inheritance, autosomal recessive inheritance and optic nerve hypoplasia. An important gene associated with Septooptic Dysplasia is HESX1 (HESX homeobox 1). Affiliated tissues include pituitary, brain and eye, and related mouse phenotypes are hearing/vestibular/ear and nervous system.

Genetics Home Reference:21 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 nerve, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia.

NIH Rare Diseases:41 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. last updated: 7/13/2012

OMIM:45 Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve... (182230) more...

Related Diseases for Septooptic Dysplasia

About this section

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

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1pituitary hypoplasia30.5HESX1
2optic nerve hypoplasia10.7
3schizencephaly10.7
4diabetes insipidus10.5
5cerebritis10.5
6encephalocele10.5
7holoprosencephaly10.5
8retinitis10.5
9agenesis of the corpus callosum10.5
10hypoglycemia10.4
11gastroschisis10.4
12dwarfism10.4
13craniotelencephalic dysplasia10.4
14tetraamelia multiple malformations x-linked10.4
15rhombencephalosynapsis10.4
16combined pituitary hormone deficiency10.4
17omphalocele10.4
18hypothyroidism due to deficient transcription factors involved in pituitary development or function10.4
19pituitary stalk interruption syndrome10.4
20hypopituitarism10.4
21cat eye syndrome10.4
22growth hormone deficiency10.4
23periventricular nodular heterotopia10.3
24hyperprolactinemia10.2
25apert syndrome10.2
26marshall-smith syndrome10.2
27cerebral palsy10.2
28dilated cardiomyopathy10.2
29hemophagocytic lymphohistiocytosis10.2
30hepatitis10.2
31cornelia de lange syndrome10.2
32clubfoot10.2
33hyperinsulinism10.2
34hydranencephaly10.2
35choroiditis10.2
36lissencephaly10.2
37arachnoiditis10.2
38kallmann syndrome10.2
39dyskinetic cerebral palsy10.2
40adams-oliver syndrome10.2
41angiomyolipoma10.2
42autism spectrum disorder10.2
43neonatal jaundice10.2
44retinal detachment10.2
45congenital hepatic fibrosis10.2
46polymicrogyria10.2
47absence of septum pellucidum10.2
48anorchia10.2
49arachnoid cysts10.2
50cerebellar hypoplasia10.2

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



Diseases related to septooptic dysplasia

Symptoms for Septooptic Dysplasia

About this section

Symptoms by clinical synopsis from OMIM:

182230

Clinical features from OMIM:

182230

HPO human phenotypes related to Septooptic Dysplasia:

(show all 13)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 optic nerve hypoplasia HP:0000609
4 growth hormone deficiency HP:0000824
5 diabetes insipidus HP:0000873
6 global developmental delay HP:0001263
7 agenesis of corpus callosum HP:0001274
8 absent septum pellucidum HP:0001331
9 phenotypic variability HP:0003812
10 optic disc hypoplasia HP:0007766
11 short finger HP:0009381
12 polydactyly HP:0010442
13 anterior pituitary hypoplasia HP:0010627

Drugs & Therapeutics for Septooptic Dysplasia

About this section

Drug clinical trials:

Search ClinicalTrials for Septooptic Dysplasia

Search NIH Clinical Center for Septooptic Dysplasia

Genetic Tests for Septooptic Dysplasia

About this section

Genetic tests related to Septooptic Dysplasia:

id Genetic test Affiliating Genes
1 Septooptic Dysplasia20 HESX1
2 Pituitary Hormone Deficiency, Combined, 522

Anatomical Context for Septooptic Dysplasia

About this section

MalaCards organs/tissues related to Septooptic Dysplasia:

31
Pituitary, Brain, Eye, Skin

Animal Models for Septooptic Dysplasia or affiliated genes

About this section

MGI Mouse Phenotypes related to Septooptic Dysplasia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1HESX1, SOD1
2MP:00036319.1HESX1, SOD1
3MP:00053919.0HESX1, SOD1
4MP:00053798.8HESX1, SOD1

Publications for Septooptic Dysplasia

About this section

Articles related to Septooptic Dysplasia:

idTitleAuthorsYear
1
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. (17148560)
2007
2
Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia. (14557462)
2003

Variations for Septooptic Dysplasia

About this section

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

62
id Symbol AA change Variation ID SNP ID
1HESX1p.Arg160CysVAR_010225rs28936702
2HESX1p.Gln6HisVAR_063230
3HESX1p.Ile26ThrVAR_063231
4HESX1p.Glu149LysVAR_063232
5HESX1p.Ser170LeuVAR_063233
6HESX1p.Thr181AlaVAR_063234

Clinvar genetic disease variations for Septooptic Dysplasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1HESX1NM_003865.2(HESX1): c.478C> T (p.Arg160Cys)single nucleotide variantPathogenicrs28936702GRCh37Chr 3, 57232305: 57232305
2HESX1HESX1, 2-BP INS, 306AGinsertionPathogenic
3HESX1HESX1, 1-BP DEL, 1684GdeletionPathogenic

Expression for genes affiliated with Septooptic Dysplasia

About this section
Search GEO for disease gene expression data for Septooptic Dysplasia.

Pathways for genes affiliated with Septooptic Dysplasia

About this section

Compounds for genes affiliated with Septooptic Dysplasia

About this section

GO Terms for genes affiliated with Septooptic Dysplasia

About this section

Products for genes affiliated with Septooptic Dysplasia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Septooptic Dysplasia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet