Choroideremia - deafness - obesity

General Information (adopted from Orphanet):

Synonyms, Signs: Ayazi syndrome
CHROMOSOME Xq21 DELETION SYNDROME
Number of Symptoms 26
OrphanetNr: 1435
OMIM Id: 303110
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease
Syndromic obesity
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
Unclassified familial retinal dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001133) Constriction of peripheral visual field 33 / 7739
2
 (HPO:0000479) Abnormality of the retina Very frequent [Orphanet] 74 / 7739
3
 (HPO:0200065) Chorioretinal degeneration 7 / 7739
4
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
5
 (HPO:0000662) Nyctalopia 92 / 7739
6
 (HPO:0000529) Progressive visual loss 54 / 7739
7
 (HPO:0001150) Choroidal sclerosis 5 / 7739
8
 (HPO:0000533) Chorioretinal atrophy 24 / 7739
9
 (HPO:0001139) Choroideremia 7 / 7739
10
 (HPO:0000405) Conductive hearing impairment 164 / 7739
11
 (HPO:0000408) Progressive sensorineural hearing impairment 28 / 7739
12
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
13
 (HPO:0001249) Intellectual disability 1089 / 7739
14
 (HPO:0001263) Global developmental delay 853 / 7739
15
 (HPO:0001513) Obesity Very frequent [Orphanet] 172 / 7739
16
 (OMIM) Wide bulbous internal auditory meatus 2 / 7739
17
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
18
 (OMIM) Irregular pigmentation of fundus (in carrier females) 2 / 7739
19
 (OMIM) Atrophy around the optic disc (in carrier females) 2 / 7739
20
 (OMIM) Abnormal communication between the subarachnoid space in the meatus and the perilymph 2 / 7739
21
 (OMIM) Deficient or absent bone between the lateral end of the meatus and basal turn of the cochlea 2 / 7739
22
 (OMIM) Contiguous gene deletion syndrome 23 / 7739
23
 (OMIM) Deafness, profound 4 / 7739
24
 (OMIM) Reduced central vision (occurs last) 2 / 7739
25
 (HPO:0001466) Contiguous gene syndrome 8 / 7739
26
 (OMIM) Stapes fixation 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ayazi (1981) described a kindred in which 2 brothers and their maternal uncle had choroideremia (CHM; 303100), congenital deafness, and mental retardation. Female carriers had typical retinal changes indicative of the choroideremia carrier state (Nussbaum et al., 1987). ...