Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism

General Information (adopted from Orphanet):

Synonyms, Signs: INSULIN-RESISTANT DIABETES WITH ACANTHOSIS NIGRICANS, HYPOGONADISM, PIGMENTARY RETINOPATHY, DEAFNESS, AND MENTAL RETARDATION
Number of Symptoms 45
OrphanetNr: 3085
OMIM Id: 268020
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 families [Orphanet]
Inheritance: Autosomal 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 retinitis pigmentosa
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0008734) Decreased testicular size Very frequent [Orphanet] 105 / 7739
2
 (HPO:0000815) Hypergonadotropic hypogonadism 48 / 7739
3
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
4
 (HPO:0000869) Secondary amenorrhea Frequent [Orphanet] 42 / 7739
5
 (HPO:0000137) Abnormality of the ovary Occasional [Orphanet] 41 / 7739
6
 (HPO:0000147) Polycystic ovaries 18 / 7739
7
 (HPO:0000280) Coarse facial features Frequent [Orphanet] 189 / 7739
8
 (HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 266 / 7739
9
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
10
 (HPO:0000523) Subcapsular cataract 12 / 7739
11
 (HPO:0000580) Pigmentary retinopathy 49 / 7739
12
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
13
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
14
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
15
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
16
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
17
 (HPO:0000598) Abnormality of the ear 98 / 7739
18
 (HPO:0001249) Intellectual disability 1089 / 7739
19
 (HPO:0000771) Gynecomastia Very frequent [Orphanet] 53 / 7739
20
 (HPO:0005978) Type II diabetes mellitus Very frequent [Orphanet] 68 / 7739
21
 (HPO:0000831) Insulin-resistant diabetes mellitus 22 / 7739
22
 (HPO:0000842) Hyperinsulinemia Very frequent [Orphanet] 39 / 7739
23
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
24
 (HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 250 / 7739
25
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Frequent [Orphanet] 69 / 7739
26
 (HPO:0001769) Broad foot Frequent [Orphanet] 31 / 7739
27
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
28
 (HPO:0003307) Hyperlordosis Occasional [Orphanet] 122 / 7739
29
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
30
 (HPO:0001169) Broad palm 43 / 7739
31
 (HPO:0002910) Elevated hepatic transaminases 158 / 7739
32
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
33
 (HPO:0001513) Obesity Frequent [Orphanet] 172 / 7739
34
 (HPO:0008070) Sparse hair 94 / 7739
35
 (HPO:0000956) Acanthosis nigricans Very frequent [Orphanet] 54 / 7739
36
 (HPO:0000958) Dry skin Frequent [Orphanet] 152 / 7739
37
 (HPO:0000987) Atypical scarring of skin Frequent [Orphanet] 58 / 7739
38
 (HPO:0001272) Cerebellar atrophy 197 / 7739
39
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
40
 (HPO:0002059) Cerebral atrophy 171 / 7739
41
 (OMIM) Increased echogenicity 2 / 7739
42
 (OMIM) Mildly elevated transaminases 2 / 7739
43
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
44
 (OMIM) Decreased insulin receptor binding 1 / 7739
45
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: