Insulin-resistance syndrome type A

General Information (adopted from Orphanet):

Synonyms, Signs: IRAN, type A
Insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans
Diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a
Number of Symptoms 57
OrphanetNr: 2297
OMIM Id: 610549
ICD-10: E11
UMLs: C0342336
MeSH:
MedDRA:
Snomed: 237651005

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
[Orphanet]
Age of onset: Childhood
15232309 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Insulin-resistance syndrome
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000831) Insulin-resistant diabetes mellitus Very frequent [IBIS] 6352462 IBIS 22 / 7739
2
 (HPO:0000855) Insulin resistance Very frequent [IBIS] 3510921; 3510919; 15232309 IBIS 32 / 7739
3
 (HPO:0008283) Fasting hyperinsulinemia Very frequent [IBIS] 3510921; 3510919; 15232309 IBIS 2 / 7739
4
 (HPO:0005978) Type II diabetes mellitus Very frequent [IBIS] Very frequent [Orphanet] 6352462 IBIS 68 / 7739
5
 (HPO:0001007) Hirsutism Very frequent [IBIS] Very frequent [Orphanet] hallmark [HPO] 6352462; 3510921; 3510919; 3510137; 15232309 IBIS 91 / 7739
6
 (HPO:0000956) Acanthosis nigricans Very frequent [IBIS] 6352462; 3510921; 3510919; 3510137; 15232309 IBIS 54 / 7739
7
 (HPO:0000147) Polycystic ovaries Very frequent [IBIS] 6352462; 3510919; 15232309 IBIS 18 / 7739
8
 (HPO:0002014) Diarrhea 15232309 IBIS 225 / 7739
9
 (HPO:0007902) Vitreous hemorrhage 15232309 IBIS 9 / 7739
10
 (HPO:0100607) Dysmenorrhea 15232309 IBIS 8 / 7739
11
 (HPO:0000520) Proptosis 6352462 IBIS 192 / 7739
12
 (HPO:0000518) Cataract 15232309 IBIS 454 / 7739
13
 (HPO:0000488) Retinopathy 6352462; 15232309 IBIS 75 / 7739
14
 (HPO:0000486) Strabismus 6352462 IBIS 576 / 7739
15
 (HPO:0000618) Blindness 15232309 IBIS 124 / 7739
16
 (HPO:0003758) Reduced subcutaneous adipose tissue 15232309 IBIS 27 / 7739
17
 (HPO:0000098) Tall stature Very frequent [Orphanet] 15232309 IBIS 74 / 7739
18
 (HPO:0001533) Slender build 6352462 IBIS 11 / 7739
19
 (HPO:0000822) Hypertension 15232309 IBIS 224 / 7739
20
 (HPO:0000969) Edema 15232309 IBIS 117 / 7739
21
 (HPO:0003712) Skeletal muscle hypertrophy 3510137 IBIS 42 / 7739
22
 (HPO:0003394) Muscle cramps 6352462; 3510137 IBIS 106 / 7739
23
 (HPO:0001324) Muscle weakness 6352462 IBIS 859 / 7739
24
 (HPO:0009830) Peripheral neuropathy 6352462; 15232309 IBIS 206 / 7739
25
 (HPO:0001959) Polydipsia 15232309 IBIS 43 / 7739
26
 (HPO:0002315) Headache 3510137 IBIS 175 / 7739
27
 (HPO:0001156) Brachydactyly syndrome 6352462 IBIS 180 / 7739
28
 (HPO:0000341) Narrow forehead 6352462 IBIS 96 / 7739
29
 (HPO:0002293) Alopecia of scalp 6352462 IBIS 9 / 7739
30
 (HPO:0000998) Hypertrichosis Very frequent [Orphanet] 15232309 IBIS 52 / 7739
31
 (HPO:0002578) Gastroparesis 15232309 IBIS 11 / 7739
32
 (HPO:0002588) Duodenal ulcer 6352462 IBIS 15 / 7739
33
 (HPO:0002592) Gastric ulcer 6352462 IBIS 39 / 7739
34
 (HPO:0001537) Umbilical hernia 15232309 IBIS 206 / 7739
35
 (HPO:0000023) Inguinal hernia 15232309 IBIS 181 / 7739
36
 (HPO:0000786) Primary amenorrhea 6352462 IBIS 61 / 7739
37
 (HPO:0000057) Clitoromegaly 6352462; 15232309 IBIS 30 / 7739
38
 (HPO:0000858) Menstrual irregularities 3510921; 3510137 IBIS 42 / 7739
39
 (HPO:0000013) Hypoplasia of the uterus 15232309 IBIS 21 / 7739
40
 (HPO:0000789) Infertility 6352462 IBIS 74 / 7739
41
 (HPO:0000280) Coarse facial features 6352462; 3510137; 15232309 IBIS 189 / 7739
42
 (HPO:0000164) Abnormality of the teeth 6352462 IBIS 291 / 7739
43
 (HPO:0000670) Carious teeth 6352462 IBIS 145 / 7739
44
 (HPO:0000845) Growth hormone excess 6352462 IBIS 18 / 7739
45
 (HPO:0001061) Acne 3510137; 15232309 IBIS 33 / 7739
46
 (HPO:0002890) Thyroid carcinoma 15232309 IBIS 5 / 7739
47
 (HPO:0000853) Goiter 6352462 IBIS 39 / 7739
48
 (HPO:0000103) Polyuria 15232309 IBIS 60 / 7739
49
 (HPO:0000112) Nephropathy 15232309 IBIS 92 / 7739
50
 (HPO:0000100) Nephrotic syndrome 15232309 IBIS 83 / 7739
51
 (HPO:0000093) Proteinuria 15232309 IBIS 169 / 7739
52
 (HPO:0003002) Breast carcinoma 15232309 IBIS 23 / 7739
53
 (HPO:0030348) Increased circulating androgen level 15232309 IBIS 8 / 7739
54
 (HPO:0030088) Increased serum testosterone level 3510919; 15232309 IBIS 2 / 7739
55
 (HPO:0012887) Ovarian serous cystadenoma 15232309 IBIS 1 / 7739
56
 (HPO:0012787) Recurrent pyelonephritis 15232309 IBIS 1 / 7739
57
 (MedDRA:10033072) Otitis externa 15232309 IBIS 1 / 7739

Associated genes:

INSR;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kahn et al. (1976) divided the syndrome of insulin resistance and acanthosis nigricans into two: type A, a syndrome of younger females with signs of virilization and accelerated growth in whom a defect in cell receptors for insulin ...
Molecular genetics OMIM In a young Japanese male with insulin-resistant diabetes mellitus and acanthosis nigricans, Odawara et al. (1989) identified a mutation in the INSR gene (147670.0001).

Among 22 unrelated women with insulin resistance, acanthosis nigricans, and the polycystic ...