Pituitary Stalk Interruption Syndrome(Ectopic neurohypophysis) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive mode(s) within the Endocrine disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive mode(s) within the Endocrine disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | ROBO1/6091 | roundabout guidance receptor 1 | 3p12.3 | Chr3, NC_000003.12 (78597239..79767998, complement) |
1170760 nt | 35 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | NSMF/26012 | NMDA receptor synaptonuclear signaling and neuronal migration factor | 9q34.3 | Chr9, NC_000009.12 (137447570..137459334, complement) |
11765 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | SMARCA2/6595 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 | 9p24.3 | Chr9, NC_000009.12 (2015347..2193624) |
178278 nt | 38 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | CDON/50937 | cell adhesion associated, oncogene regulated | 11q24.2 | Chr11, NC_000011.10 (125956821..126063352, complement) |
106532 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | DNMT1/1786 | DNA methyltransferase 1 | 19p13.2 | Chr19, NC_000019.10 (10133346..10194953, complement) |
61608 nt | 41 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | KISS1R/84634 | KISS1 receptor | 19p13.3 | Chr19, NC_000019.10 (917333..921005) |
3673 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |