BOR syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Branchiootorenal syndrome
Number of Symptoms 50
OrphanetNr: 107
OMIM Id: 113650
610896
ICD-10: Q87.8
UMLs: C0265234
MeSH: D019280
MedDRA:
Snomed: 290006

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Branchial arch or oral-acral syndrome
 -Rare developmental defect during embryogenesis
Genetic branchial arch or oral-acral syndrome
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Otomandibular dysplasia associated with monogenic syndromes
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Syndrome or malformation associated with head and neck malformations
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease
Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000104) Renal agenesis 68 / 7739
2
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
3
 (HPO:0000076) Vesicoureteral reflux Occasional [Orphanet] 94 / 7739
4
 (HPO:0000107) Renal cyst Occasional [Orphanet] 126 / 7739
5
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
6
 (HPO:0000113) Polycystic kidney dysplasia 75 / 7739
7
 (HPO:0008678) Renal hypoplasia/aplasia Frequent [Orphanet] 127 / 7739
8
 (HPO:0004742) Abnormality of the renal collecting system 4 / 7739
9
 (HPO:0004712) Renal malrotation 6 / 7739
10
 (HPO:0000799) Renal steatosis 6 / 7739
11
 (HPO:0000110) Renal dysplasia 44 / 7739
12
 (HPO:0000218) High palate 356 / 7739
13
 (HPO:0000276) Long face 109 / 7739
14
 (HPO:0000275) Narrow face 76 / 7739
15
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
16
 (HPO:0000175) Cleft palate 349 / 7739
17
 (HPO:0009796) Branchial cyst Frequent [Orphanet] 32 / 7739
18
 (HPO:0009795) Branchial fistula 4 / 7739
19
 (HPO:0011094) Overbite 5 / 7739
20
 (HPO:0000691) Microdontia 104 / 7739
21
 (HPO:0010628) Facial palsy Occasional [Orphanet] 10% [HPO:probinson] 146 / 7739
22
 (HPO:0000193) Bifid uvula 66 / 7739
23
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
24
 (HPO:0007925) Lacrimal duct aplasia 25% [HPO:probinson] 2 / 7739
25
 (HPO:0007678) Lacrimal duct stenosis 25% [HPO:probinson] 8 / 7739
26
 (HPO:0100274) Gustatory lacrimation 2 / 7739
27
 (HPO:0000632) Lacrimation abnormality Occasional [Orphanet] 42 / 7739
28
 (HPO:0008551) Microtia 45% [HPO:probinson] 98 / 7739
29
 (HPO:0000410) Mixed hearing impairment 50% [HPO:probinson] 22 / 7739
30
 (HPO:0000384) Preauricular skin tag Frequent [Orphanet] 62 / 7739
31
 (HPO:0008586) Hypoplasia of the cochlea 4 / 7739
32
 (HPO:0004458) Dilatated internal auditory canal 4 / 7739
33
 (HPO:0004467) Preauricular pit 75% [HPO:probinson] 39 / 7739
34
 (HPO:0011390) Morphological abnormality of the inner ear Frequent [Orphanet] 21 / 7739
35
 (HPO:0009797) Cholesteatoma 1 / 7739
36
 (HPO:0000378) Cupped ear 45% [HPO:probinson] 34 / 7739
37
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
38
 (HPO:0000402) Stenosis of the external auditory canal 30% [HPO:probinson] 22 / 7739
39
 (HPO:0000356) Abnormality of the outer ear Frequent [Orphanet] 85 / 7739
40
 (HPO:0000376) Incomplete partition of the cochlea type II 5 / 7739
41
 (HPO:0000372) Abnormality of the auditory canal Occasional [Orphanet] 49 / 7739
42
 (HPO:0004452) Abnormality of the middle ear ossicles Frequent [Orphanet] 26 / 7739
43
 (HPO:0009798) Euthyroid goiter 1 / 7739
44
 (HPO:0001374) Congenital hip dislocation 51 / 7739
45
 (HPO:0002566) Intestinal malrotation 89 / 7739
46
 (HPO:0001425) Heterogeneous 132 / 7739
47
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
48
 (HPO:0003828) Variable expressivity 130 / 7739
49
 (HPO:0003829) Incomplete penetrance 85 / 7739
50
 (HPO:0002060) Abnormality of the cerebrum 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: