Septo-optic dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: CPHD5, INCLUDED
GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, INCLUDED
DE MORSIER SYNDROME PITUITARY HORMONE DEFICIENCY, COMBINED, 5, INCLUDED
SOD
De Morsier syndrome
Septo-optic dysplasia spectrum
Number of Symptoms 53
OrphanetNr: 3157
OMIM Id: 182230
ICD-10: Q04.8
UMLs: C0338503
MeSH: D025962
MedDRA: 10067159
Snomed: 7611002

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
Multifactorial
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disease associated with nonacquired combined pituitary hormone deficiency
 -Rare endocrine disease
 -Rare genetic disease
Genetic syndrome with a central nervous system malformation as major feature
 -Rare genetic disease
Nervous system anomaly with eye involvement
 -Rare eye disease
 -Rare genetic disease
Other syndrome with a central nervous system malformation as major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease
Rare eye disease due to a differentiation anomaly
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Syndromic optic nerve hypoplasia
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0011037) Decreased urine output Occasional [Orphanet] 47 / 7739
2
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
3
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
4
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
5
 (HPO:0004408) Abnormality of the sense of smell Occasional [Orphanet] 28 / 7739
6
 (HPO:0007766) Optic disc hypoplasia 7 / 7739
7
 (HPO:0100842) Septo-optic dysplasia Very frequent [Orphanet] 8 / 7739
8
 (HPO:0000609) Optic nerve hypoplasia 26 / 7739
9
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
10
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
11
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
12
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
13
 (HPO:0002360) Sleep disturbance Occasional [Orphanet] 113 / 7739
14
 (HPO:0001263) Global developmental delay 853 / 7739
15
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
16
 (HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
17
 (HPO:0004374) Hemiplegia/hemiparesis Frequent [Orphanet] 158 / 7739
18
 (HPO:0010627) Anterior pituitary hypoplasia 6 / 7739
19
 (HPO:0000873) Diabetes insipidus Occasional [Orphanet] 34 / 7739
20
 (HPO:0000824) Growth hormone deficiency 56 / 7739
21
 (HPO:0009800) Maternal diabetes Occasional [Orphanet] 14 / 7739
22
 (HPO:0000864) Abnormality of the hypothalamus-pituitary axis Frequent [Orphanet] 23 / 7739
23
 (HPO:0009381) Short finger 45 / 7739
24
 (HPO:0010442) Polydactyly 69 / 7739
25
 (HPO:0002019) Constipation Occasional [Orphanet] 194 / 7739
26
 (HPO:0002575) Tracheoesophageal fistula Occasional [Orphanet] 54 / 7739
27
 (HPO:0001513) Obesity Occasional [Orphanet] 172 / 7739
28
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
29
 (HPO:0000958) Dry skin Occasional [Orphanet] 152 / 7739
30
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
31
 (HPO:0004370) Abnormality of temperature regulation Occasional [Orphanet] 58 / 7739
32
 (HPO:0001998) Neonatal hypoglycemia 22 / 7739
33
 (HPO:0001324) Muscle weakness Occasional [Orphanet] 859 / 7739
34
 (OMIM) Low or absent luteinizing hormone (LH) 4 / 7739
35
 (OMIM) Hypoplastic optic disc 3 / 7739
36
 (OMIM) Midline forebrain defects 1 / 7739
37
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
38
 (OMIM) Hypoplasia of anterior pituitary 1 / 7739
39
 (OMIM) Ectopic or absent posterior pituitary 1 / 7739
40
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
41
 (OMIM) Supernumerary digits 1 / 7739
42
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
43
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
44
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
45
 (HPO:0040075) Hypopituitarism Frequent [Orphanet] 32 / 7739
46
 (OMIM) Low or absent follicle stimulating hormone (FSH) 4 / 7739
47
 (OMIM) Low or absent growth hormone (GH) 5 / 7739
48
 (HPO:0001331) Absent septum pellucidum 16 / 7739
49
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
50
 (OMIM) Low or absent adrenocorticotropic hormone (ACTH) 3 / 7739
51
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
52
 (HPO:0003812) Phenotypic variability 129 / 7739
53
 (OMIM) Low or absent thyrotropin (TSH) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). ...
Clinical Description OMIM According to Rush and Bajandas (1978), the term 'septooptic dysplasia' was coined in 1956 by de Morsier, who pointed out the association of optic nerve hypoplasia and absence of the septum pellucidum. Hoyt et al. (1970) reported the ...
Molecular genetics OMIM In 2 sibs with septooptic dysplasia reported by Wales and Quarrell (1996), Dattani et al. (1998) demonstrated homozygosity for a missense mutation in the HESX1 gene (601802.0001). Genetic analysis of the HESX1 gene in 18 patients with sporadic ...