OGIN
MCID: OCL083
MIFTS: 13

Oculogastrointestinal Neurodevelopmental Syndrome (OGIN)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Oculogastrointestinal Neurodevelopmental Syndrome

MalaCards integrated aliases for Oculogastrointestinal Neurodevelopmental Syndrome:

Name: Oculogastrointestinal Neurodevelopmental Syndrome 57
Ogin 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
some patients have been reported with normal motor and cognitive development


Classifications:



External Ids:

OMIM® 57 619318

Summaries for Oculogastrointestinal Neurodevelopmental Syndrome

OMIM® : 57 Oculogastrointestinal neurodevelopmental syndrome (OGIN) is characterized by microphthalmia and/or coloboma in association with other congenital anomalies, including imperforate anus, horseshoe kidney, and structural cardiac defects. Hearing loss and severe developmental delay are also observed in most patients (Zha et al., 2020; Mor-Shaked et al., 2021). (619318) (Updated 20-May-2021)

MalaCards based summary : Oculogastrointestinal Neurodevelopmental Syndrome, is also known as ogin. An important gene associated with Oculogastrointestinal Neurodevelopmental Syndrome is CAPN15 (Calpain 15). Affiliated tissues include eye and kidney.

Related Diseases for Oculogastrointestinal Neurodevelopmental Syndrome

Symptoms & Phenotypes for Oculogastrointestinal Neurodevelopmental Syndrome

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
global developmental delay
motor delay
seizures (in some patients)
axial hypotonia
cognitive delay
more
Skeletal Skull:
microcephaly

Cardiovascular Heart:
atrial septal defect
bicuspid aortic valve
patent ductus arteriosus
ventricular septal defect
right aortic arch
more
Skeletal Spine:
hemivertebrae

Abdomen Gastrointestinal:
imperforate anus
rectovesical fistula

Growth Other:
postnatal growth delay

Head And Neck Eyes:
iridocorneal adhesions
microphthalmia, unilateral or bilateral
coloboma (iris, chorioretinal, optic disc)
ptosis, unilateral (uncommon)
bilateral myopia (due to increased axial length)
more
Skeletal Pelvis:
sacral dysplasia

Head And Neck Head:
microcephaly

Genitourinary Kidneys:
horseshoe kidney
ureteropelvic junction dysfunction

Genitourinary Bladder:
vesicoureteral reflux

Genitourinary Internal Genitalia Female:
vaginal fistula

Head And Neck Ears:
hearing loss
simple ears

Neurologic Behavioral Psychiatric Manifestations:
autistic features (in some patients)

Respiratory Larynx:
laryngeal cleft (rare)

Clinical features from OMIM®:

619318 (Updated 20-May-2021)

Drugs & Therapeutics for Oculogastrointestinal Neurodevelopmental Syndrome

Search Clinical Trials , NIH Clinical Center for Oculogastrointestinal Neurodevelopmental Syndrome

Genetic Tests for Oculogastrointestinal Neurodevelopmental Syndrome

Anatomical Context for Oculogastrointestinal Neurodevelopmental Syndrome

MalaCards organs/tissues related to Oculogastrointestinal Neurodevelopmental Syndrome:

40
Eye, Kidney

Publications for Oculogastrointestinal Neurodevelopmental Syndrome

Articles related to Oculogastrointestinal Neurodevelopmental Syndrome:

# Title Authors PMID Year
1
Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay. 57
33410501 2021
2
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits. 57
32885237 2020

Variations for Oculogastrointestinal Neurodevelopmental Syndrome

Expression for Oculogastrointestinal Neurodevelopmental Syndrome

Search GEO for disease gene expression data for Oculogastrointestinal Neurodevelopmental Syndrome.

Pathways for Oculogastrointestinal Neurodevelopmental Syndrome

GO Terms for Oculogastrointestinal Neurodevelopmental Syndrome

Sources for Oculogastrointestinal Neurodevelopmental Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....