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Oculogastrointestinal-neurodevelopmental syndrome(OGIN)

MedGen UID:
1779113
Concept ID:
C5543355
Disease or Syndrome
Synonyms: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
 
Gene (location): CAPN15 (16p13.3)
 
Monarch Initiative: MONDO:0036189
OMIM®: 619318
Orphanet: ORPHA611201

Definition

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). [from OMIM]

Clinical features

From HPO
Vaginal fistula
MedGen UID:
21812
Concept ID:
C0042253
Anatomical Abnormality
The presence of a fistula of the vagina.
Horseshoe kidney
MedGen UID:
65140
Concept ID:
C0221353
Congenital Abnormality
A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.
Bicuspid aortic valve
MedGen UID:
57436
Concept ID:
C0149630
Congenital Abnormality
Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta (Tan et al., 2012; Luyckx et al., 2019; Park et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730).
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Imperforate anus
MedGen UID:
1997
Concept ID:
C0003466
Congenital Abnormality
Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
Simple ear
MedGen UID:
140913
Concept ID:
C0431483
Congenital Abnormality
The pinna has fewer folds and grooves than usual.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Autistic behavior
MedGen UID:
163547
Concept ID:
C0856975
Mental or Behavioral Dysfunction
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
Hemivertebrae
MedGen UID:
82720
Concept ID:
C0265677
Congenital Abnormality
Absence of one half of the vertebral body.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Laryngeal cleft
MedGen UID:
327075
Concept ID:
C1840311
Congenital Abnormality
Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esophagus.
Dysphonia
MedGen UID:
282893
Concept ID:
C1527344
Mental or Behavioral Dysfunction
Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.
Low hanging columella
MedGen UID:
344656
Concept ID:
C1856119
Finding
Columella extending inferior to the level of the nasal base, when viewed from the side.
Hirsutism
MedGen UID:
42461
Concept ID:
C0019572
Disease or Syndrome
Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
Sacral dimple
MedGen UID:
98428
Concept ID:
C0426848
Finding
A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.
Congenital ocular coloboma
MedGen UID:
1046
Concept ID:
C0009363
Congenital Abnormality
Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of one or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014). Genetic Heterogeneity of Ocular Coloboma A recessive form of ocular coloboma (216820) is caused by mutation in the SALL2 gene (602219) on chromosome 14q11.
Bilateral microphthalmos
MedGen UID:
334420
Concept ID:
C1843496
Congenital Abnormality
A developmental anomaly characterized by abnormal smallness of both eyes.
Unilateral ptosis
MedGen UID:
401085
Concept ID:
C1866806
Finding
A unilateral form of ptosis.
Unilateral microphthalmos
MedGen UID:
768664
Concept ID:
C3640024
Disease or Syndrome
A developmental anomaly characterized by abnormal smallness of one eye.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOculogastrointestinal-neurodevelopmental syndrome

Recent clinical studies

Diagnosis

Beaman MM, Guidugli L, Hammer M, Barrows C, Gregor A, Lee S, Deak KL, McDonald MT, Jensen C, Zaki MS, Masri AT, Hobbs CA, Gleeson JG, Cohen JL
Am J Med Genet A 2023 Nov;191(11):2757-2767. Epub 2023 Aug 19 doi: 10.1002/ajmg.a.63363. PMID: 37596828

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