IRAN TYPE A
MCID: DBT020
MIFTS: 40

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans (IRAN TYPE A)

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

MalaCards integrated aliases for Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans:

Name: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 57 20 43 13
Insulin-Resistant Diabetes Mellitus and Acanthosis Nigricans 43 29 6 39
Type a Insulin Resistance Syndrome 20 43
Insulin-Resistance Syndrome Type a 43 58
Insulin Resistance - Type a 43 70
Iran, Type a 57 20
Insulin Receptor, Defect in, with Insulin-Resistant Diabetes Mellitus and Acanthosis Nigricans 57
Extreme Insulin Resistance with Acanthosis Nigricans, Hirsutism and Abnormal Insulin Receptors 43
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans, Type a 57
Insulin-Resistant Diabetes Mellitus with Acanthosis Nigricans Type a 72
Insulin-Resistant Diabetes Mellitus with Acanthosis Nigricans 36
Insulin-Resistant Acanthosis Nigricans, Type a 20
Insulin Resistance Syndrome, Type a 43
Type a Insulin Resistance 43
Iran Type a 72

Characteristics:

Orphanet epidemiological data:

58
insulin-resistance syndrome type a
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare infertility disorders
Rare endocrine diseases


External Ids:

OMIM® 57 610549
KEGG 36 H01228
ICD10 via Orphanet 33 E13
UMLS via Orphanet 71 C0342278 C0342336
Orphanet 58 ORPHA2297
UMLS 70 C0342336

Summaries for Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

MedlinePlus Genetics : 43 Type A insulin resistance syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. In people with type A insulin resistance syndrome, insulin resistance impairs blood sugar regulation and ultimately leads to a condition called diabetes mellitus, in which blood sugar levels can become dangerously high.Severe insulin resistance also underlies the other signs and symptoms of type A insulin resistance syndrome. In affected females, the major features of the condition become apparent in adolescence. Many affected females do not begin menstruation by age 16 (primary amenorrhea) or their periods may be light and irregular (oligomenorrhea). They develop cysts on the ovaries and excessive body hair growth (hirsutism). Most affected females also develop a skin condition called acanthosis nigricans, in which the skin in body folds and creases becomes thick, dark, and velvety. Unlike most people with insulin resistance, females with type A insulin resistance syndrome are usually not overweight.The features of type A insulin resistance syndrome are more subtle in affected males. Some males have low blood sugar (hypoglycemia) as the only sign; others may also have acanthosis nigricans. In many cases, males with this condition come to medical attention only when they develop diabetes mellitus in adulthood.Type A insulin resistance syndrome is one of a group of related conditions described as inherited severe insulin resistance syndromes. These disorders, which also include Donohue syndrome and Rabson-Mendenhall syndrome, are considered part of a spectrum. Type A insulin resistance syndrome represents the mildest end of the spectrum: its features often do not become apparent until puberty or later, and it is generally not life-threatening.

MalaCards based summary : Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans, also known as insulin-resistant diabetes mellitus and acanthosis nigricans, is related to lipodystrophy, familial partial, type 2 and pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities. An important gene associated with Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans is INSR (Insulin Receptor), and among its related pathways/superpathways are Adherens junction and Insulin signaling pathway. The drugs Empagliflozin and insulin have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, cortex and adipocyte, and related phenotypes are type ii diabetes mellitus and delayed puberty

KEGG : 36 Insulin-resistant diabetes mellitus with acanthosis nigricans (IRAN) is an unusual cause of diabetes that result from metabolic abnormalities associated with mutations of the insulin receptor (INSR) gene, characterized by phenotypic description of extreme insulin resistance, acanthosis nigricans, and hyperandrogenism. Other phenotype of IRAN form includes hirsutism and polycystic ovarian disease in a patient who is usually not obese. There is no distinctive serum marker. Leprechaunism [DS:H00719] and the Rabson-Mendenhall syndrome [DS:H00942] also have mutations in INSR with subsequent alterations in insulin receptor function and extreme insulin resistance.

UniProtKB/Swiss-Prot : 72 Insulin-resistant diabetes mellitus with acanthosis nigricans type A: Characterized by the association of severe insulin resistance (manifested by marked hyperinsulinemia and a failure to respond to exogenous insulin) with the skin lesion acanthosis nigricans and ovarian hyperandrogenism in adolescent female subjects. Women frequently present with hirsutism, acne, amenorrhea or oligomenorrhea, and virilization. This syndrome is different from the type B that has been demonstrated to be secondary to the presence of circulating autoantibodies against the insulin receptor.

More information from OMIM: 610549

Related Diseases for Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

Graphical network of the top 20 diseases related to Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans:



Diseases related to Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

Symptoms & Phenotypes for Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

Human phenotypes related to Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 type ii diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0005978
2 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
3 hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000962
4 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
5 generalized hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002230
6 generalized hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007440
7 accelerated skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0005616

Clinical features from OMIM®:

610549 (Updated 05-Apr-2021)

Drugs & Therapeutics for Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

Drugs for Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Empagliflozin Approved Phase 3 864070-44-0
2 insulin Phase 3
3 Sodium-Glucose Transporter 2 Inhibitors Phase 3
4 Hypoglycemic Agents Phase 3
5 Insulin, Globin Zinc Phase 3
6
Metformin Approved Phase 2 657-24-9 4091 14219
7
Saxagliptin Approved Phase 2 361442-04-8 11243969
8 Hormone Antagonists Phase 2
9 Dipeptidyl-Peptidase IV Inhibitors Phase 2
10 Incretins Phase 2
11 Hormones Phase 2
12 Anti-Inflammatory Agents Phase 2
13
protease inhibitors Phase 2
14 HIV Protease Inhibitors Phase 2
15 Insulin, Short-Acting

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Multicenter, Open-label, Single-arm, Extension Study With Regard to the Safety and Efficacy of Empagliflozin in Patients With Refractory Diabetes Mellitus With Insulin Resistance (EMPIRE-02) Recruiting NCT04221152 Phase 3 Empagliflozin Tablets
2 A Multicenter, Open-label, Single-arm Study With Regard to the Efficacy and Safety of Empagliflozin in Patients With Refractory Diabetes Mellitus With Insulin Resistance Active, not recruiting NCT04018365 Phase 3 Empagliflozin Tablets
3 Neutrophil Elastase Inhibition as Adjunctive Therapy to Improve Glucometabolic Variables in Overweight and Obese, Insulin-Resistant Type 2 Diabetic Patients Completed NCT02597101 Phase 2 Metformin;saxagliptin;AZD9668;placebo
4 Three-year Retrospective Study on the Switch From Rapid-acting Insulin Analog to Concentrated U-500 Regular Insulin in Insulin-resistant Type 2 Diabetes Patients Treated by Pump Therapy Completed NCT04371497

Search NIH Clinical Center for Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

Genetic Tests for Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

Genetic tests related to Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans:

# Genetic test Affiliating Genes
1 Insulin-Resistant Diabetes Mellitus and Acanthosis Nigricans 29 INSR

Anatomical Context for Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

MalaCards organs/tissues related to Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans:

40
Neutrophil, Cortex, Adipocyte, Ovary, Adrenal Cortex, Pineal

Publications for Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

Articles related to Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans:

(show all 40)
# Title Authors PMID Year
1
Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance. 57 6
8288049 1994
2
Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor. 57 6
2544998 1989
3
Characterization of binding and phosphorylation defects of erythrocyte insulin receptors in the type A syndrome of insulin resistance. 57 6
3510919 1986
4
Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 6
28765322 2017
5
Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. 6
27896077 2014
6
A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia. 57
19470471 2009
7
A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene. 6
15161766 2004
8
Substitution of glutamic acid for alanine 1135 in the putative "catalytic loop" of the tyrosine kinase domain of the human insulin receptor. A mutation that impairs proteolytic processing into subunits and inhibits receptor tyrosine kinase activity. 6
8096518 1993
9
Autosomal dominant insulin resistance syndrome due to postbinding defect. 57
1282780 1992
10
Abnormal messenger ribonucleic acid (mRNA) transcribed from a mutant insulin receptor gene in a patient with type A insulin resistance. 6
1644241 1992
11
Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene alleles. 6
2002058 1991
12
Substitution of lysine for asparagine at position 15 in the alpha-subunit of the human insulin receptor. A mutation that impairs transport of receptors to the cell surface and decreases the affinity of insulin binding. 6
2121734 1990
13
Phosphorylation state and biological function of a mutant human insulin receptor Val996. 6
2203761 1990
14
Functional properties of a naturally occurring Trp1200----Ser1200 mutation of the insulin receptor. 6
1963473 1990
15
Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. 6
2365819 1990
16
Insulin-resistant diabetes associated with partial deletion of insulin-receptor gene. 6
1971035 1990
17
Molecular defects in insulin action. 6
2662406 1989
18
Human diabetes associated with a deletion of the tyrosine kinase domain of the insulin receptor. 6
2544997 1989
19
Detection of an alteration in the insulin-receptor gene in a patient with insulin resistance, acanthosis nigricans, and the polycystic ovary syndrome (type A insulin resistance). 6
2460770 1988
20
The insulin receptor and the molecular mechanism of insulin action. 57
3049671 1988
21
Defective processing of insulin-receptor precursor in cultured lymphocytes from a patient with extreme insulin resistance. 6
3384956 1988
22
Insulin-resistant diabetes due to a point mutation that prevents insulin proreceptor processing. 6
3283938 1988
23
Defects in human insulin receptor gene expression. 57
2840573 1988
24
Functional characteristics of decreased insulin receptors on fibroblasts obtained from a subject with severe insulin resistance and acanthosis nigricans. 57
3510921 1986
25
Familial insulin resistance and acanthosis nigricans. Presence of a postbinding defect. 57
3510137 1986
26
The human insulin receptor cDNA: the structural basis for hormone-activated transmembrane signalling. 6
2859121 1985
27
Impaired insulin-induced RNA synthesis secondary to a genetically defective insulin receptor. 57
2578425 1985
28
Defect in insulin receptor phosphorylation in erythrocytes and fibroblasts associated with severe insulin resistance. 57
6392291 1984
29
Defect in phosphorylation of insulin receptors in cells from an insulin-resistant patient with normal insulin binding. 57
6141638 1984
30
Decreased insulin binding to cultured cells from a patient with the Rabson-Mendenhall syndrome: dichotomy between studies with cultured lymphocytes and cultured fibroblasts. 6
6339538 1983
31
Familial insulin-resistant diabetes secondary to an affinity defect of the insulin receptor. 57
6352462 1983
32
Insulin resistance in a child with Acanthosis nigricans type A. 57
7136687 1982
33
Acanthosis nigricans, hirsutism, insulin resistance and insulin receptor defect. 57
6749340 1982
34
Insulin resistance and diabetes due to a genetic defect in insulin receptors. 6
7042734 1982
35
Insulin resistance, acanthosis nigricans, and normal insulin receptors in a young woman: evidence for a postreceptor defect. 57
400728 1978
36
The syndromes of insulin resistance and acanthosis nigricans. Insulin-receptor disorders in man. 57
176581 1976
37
Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus; report of 3 cases. 6
13302174 1956
38
Dysregulation of insulin-like growth factors in a case of generalized acquired lipoatrophic diabetes mellitus (Lawrence Syndrome) connected with autoantibodies against adipocyte membranes. 61
9516065 1998
39
Partial lipodystrophy associated with juvenile dermatomyositis: report of two cases. 61
8987057 1996
40
The intraovarian sites of androgen and estrogen formation in women with normal and hyperandrogenic ovaries as judged by in vitro experiments. 61
7364931 1980

Variations for Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

ClinVar genetic disease variations for Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans:

6 (show top 50) (show all 265)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 INSR NM_000208.4(INSR):c.3104G>T (p.Gly1035Val) SNV Pathogenic 14679 rs121913135 GRCh37: 19:7125448-7125448
GRCh38: 19:7125437-7125437
2 INSR NM_000208.4(INSR):c.2286G>T (p.Arg762Ser) SNV Pathogenic 14684 rs121913138 GRCh37: 19:7143083-7143083
GRCh38: 19:7143072-7143072
3 INSR INSR, EX17, ALU Variation Pathogenic 14685 GRCh37:
GRCh38:
4 INSR NM_000208.4(INSR):c.3481G>A (p.Ala1161Thr) SNV Pathogenic 14687 rs121913139 GRCh37: 19:7122673-7122673
GRCh38: 19:7122662-7122662
5 INSR NM_000208.4(INSR):c.479G>A (p.Trp160Ter) SNV Pathogenic 14694 rs121913146 GRCh37: 19:7267529-7267529
GRCh38: 19:7267518-7267518
6 INSR NM_000208.4(INSR):c.1466A>G (p.Asn489Ser) SNV Pathogenic 14695 rs121913147 GRCh37: 19:7170565-7170565
GRCh38: 19:7170554-7170554
7 INSR NM_000208.3(INSR):c.2683-542_2842+544del Deletion Pathogenic 14696 GRCh37:
GRCh38: 19:7131594-7132859
8 INSR NM_000208.4(INSR):c.3059G>A (p.Arg1020Gln) SNV Pathogenic 14697 rs121913148 GRCh37: 19:7125493-7125493
GRCh38: 19:7125482-7125482
9 INSR NM_000208.4(INSR):c.3485C>A (p.Ala1162Glu) SNV Pathogenic 14704 rs121913154 GRCh37: 19:7122669-7122669
GRCh38: 19:7122658-7122658
10 INSR NM_000208.4(INSR):c.3602G>A (p.Arg1201Gln) SNV Pathogenic 14708 rs121913156 GRCh37: 19:7120688-7120688
GRCh38: 19:7120677-7120677
11 INSR NM_000208.4(INSR):c.3079C>T (p.Arg1027Ter) SNV Pathogenic 14692 rs121913144 GRCh37: 19:7125473-7125473
GRCh38: 19:7125462-7125462
12 INSR NM_000208.4(INSR):c.3160G>A (p.Val1054Met) SNV Pathogenic 377384 rs1135401741 GRCh37: 19:7125392-7125392
GRCh38: 19:7125381-7125381
13 INSR NM_000208.4(INSR):c.3680G>C (p.Trp1227Ser) SNV Pathogenic 14683 rs121913140 GRCh37: 19:7119574-7119574
GRCh38: 19:7119563-7119563
14 INSR NM_000208.4(INSR):c.1033G>T (p.Glu345Ter) SNV Pathogenic 1032926 GRCh37: 19:7174684-7174684
GRCh38: 19:7174673-7174673
15 INSR NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) SNV Conflicting interpretations of pathogenicity 211190 rs143523271 GRCh37: 19:7150532-7150532
GRCh38: 19:7150521-7150521
16 INSR NM_000208.4(INSR):c.*2853T>C SNV Uncertain significance 330377 rs186288667 GRCh37: 19:7114214-7114214
GRCh38: 19:7114203-7114203
17 INSR NM_000208.4(INSR):c.*2149C>T SNV Uncertain significance 330393 rs886054670 GRCh37: 19:7114918-7114918
GRCh38: 19:7114907-7114907
18 INSR NM_000208.4(INSR):c.2573C>T (p.Thr858Met) SNV Uncertain significance 330455 rs201466857 GRCh37: 19:7141797-7141797
GRCh38: 19:7141786-7141786
19 INSR NM_000208.4(INSR):c.*1967G>A SNV Uncertain significance 330399 rs886054672 GRCh37: 19:7115100-7115100
GRCh38: 19:7115089-7115089
20 INSR NM_000208.4(INSR):c.2280A>G (p.Lys760=) SNV Uncertain significance 330463 rs373695282 GRCh37: 19:7143089-7143089
GRCh38: 19:7143078-7143078
21 INSR NM_000208.4(INSR):c.*853A>C SNV Uncertain significance 330417 rs886054677 GRCh37: 19:7116214-7116214
GRCh38: 19:7116203-7116203
22 INSR NM_000208.4(INSR):c.*12G>A SNV Uncertain significance 330437 rs375751275 GRCh37: 19:7117055-7117055
GRCh38: 19:7117044-7117044
23 INSR NM_000208.4(INSR):c.3383G>A (p.Arg1128His) SNV Uncertain significance 330443 rs202160383 GRCh37: 19:7122771-7122771
GRCh38: 19:7122760-7122760
24 INSR NM_000208.4(INSR):c.*3654G>A SNV Uncertain significance 330362 rs753611294 GRCh37: 19:7113413-7113413
GRCh38: 19:7113402-7113402
25 INSR NM_000208.4(INSR):c.*2318G>A SNV Uncertain significance 330390 rs80330850 GRCh37: 19:7114749-7114749
GRCh38: 19:7114738-7114738
26 INSR NM_000208.4(INSR):c.*349_*355dup Duplication Uncertain significance 330430 rs71177157 GRCh37: 19:7116711-7116712
GRCh38: 19:7116700-7116701
27 INSR NM_000208.4(INSR):c.*358_*359insTTTTTT Insertion Uncertain significance 330425 rs886054680 GRCh37: 19:7116708-7116709
GRCh38: 19:7116697-7116698
28 INSR NM_000208.4(INSR):c.*926_*927insG Insertion Uncertain significance 330416 rs886054676 GRCh37: 19:7116140-7116141
GRCh38: 19:7116129-7116130
29 INSR NM_000208.4(INSR):c.*999A>G SNV Uncertain significance 330412 rs372034184 GRCh37: 19:7116068-7116068
GRCh38: 19:7116057-7116057
30 INSR NM_000208.4(INSR):c.*334del Deletion Uncertain significance 330431 rs886054683 GRCh37: 19:7116733-7116733
GRCh38: 19:7116722-7116722
31 INSR NM_000208.4(INSR):c.*3008_*3009del Deletion Uncertain significance 330374 rs1555733404 GRCh37: 19:7114058-7114059
GRCh38: 19:7114047-7114048
32 INSR NM_000208.4(INSR):c.*4374G>A SNV Uncertain significance 330351 rs886054660 GRCh37: 19:7112693-7112693
GRCh38: 19:7112682-7112682
33 INSR NM_000208.4(INSR):c.*3010del Deletion Uncertain significance 330372 rs886054664 GRCh37: 19:7114057-7114057
GRCh38: 19:7114046-7114046
34 INSR NM_000208.4(INSR):c.*3894G>A SNV Uncertain significance 330357 rs184154294 GRCh37: 19:7113173-7113173
GRCh38: 19:7113162-7113162
35 INSR NM_000208.4(INSR):c.*2160G>T SNV Uncertain significance 330392 rs570523460 GRCh37: 19:7114907-7114907
GRCh38: 19:7114896-7114896
36 INSR NM_000208.4(INSR):c.3370-12T>G SNV Uncertain significance 330444 rs200201955 GRCh37: 19:7122796-7122796
GRCh38: 19:7122785-7122785
37 INSR NM_000208.4(INSR):c.*3298C>T SNV Uncertain significance 330370 rs184243377 GRCh37: 19:7113769-7113769
GRCh38: 19:7113758-7113758
38 INSR NM_000208.4(INSR):c.*356_*357del Deletion Uncertain significance 330426 rs1555733954 GRCh37: 19:7116710-7116711
GRCh38: 19:7116699-7116700
39 INSR NM_000208.4(INSR):c.*4379C>T SNV Uncertain significance 330350 rs886054659 GRCh37: 19:7112688-7112688
GRCh38: 19:7112677-7112677
40 INSR NM_000208.4(INSR):c.*2464C>T SNV Uncertain significance 330386 rs181555180 GRCh37: 19:7114603-7114603
GRCh38: 19:7114592-7114592
41 INSR NM_000208.4(INSR):c.*4349C>T SNV Uncertain significance 330352 rs886054661 GRCh37: 19:7112718-7112718
GRCh38: 19:7112707-7112707
42 INSR NM_000208.4(INSR):c.*352_*355dup Duplication Uncertain significance 330428 rs71177157 GRCh37: 19:7116711-7116712
GRCh38: 19:7116700-7116701
43 INSR NM_000208.4(INSR):c.2268-3C>T SNV Uncertain significance 330464 rs750201666 GRCh37: 19:7143104-7143104
GRCh38: 19:7143093-7143093
44 INSR NM_000208.4(INSR):c.*4719dup Duplication Uncertain significance 330346 rs543556010 GRCh37: 19:7112347-7112348
GRCh38: 19:7112336-7112337
45 INSR NM_000208.4(INSR):c.*3390_*3392CAA[4] Microsatellite Uncertain significance 330367 rs886054663 GRCh37: 19:7113663-7113665
GRCh38: 19:7113652-7113654
46 INSR NM_000208.4(INSR):c.*2405A>T SNV Uncertain significance 330388 rs886054669 GRCh37: 19:7114662-7114662
GRCh38: 19:7114651-7114651
47 INSR NM_000208.4(INSR):c.2245G>A (p.Gly749Ser) SNV Uncertain significance 330465 rs545885277 GRCh37: 19:7150530-7150530
GRCh38: 19:7150519-7150519
48 INSR NM_000208.4(INSR):c.*280G>A SNV Uncertain significance 330434 rs886054685 GRCh37: 19:7116787-7116787
GRCh38: 19:7116776-7116776
49 INSR NM_000208.4(INSR):c.1628C>T (p.Thr543Met) SNV Uncertain significance 330471 rs767160876 GRCh37: 19:7166398-7166398
GRCh38: 19:7166387-7166387
50 LMNA NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser) SNV Uncertain significance 48052 rs60662302 GRCh37: 1:156108384-156108384
GRCh38: 1:156138593-156138593

UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans:

72 (show all 21)
# Symbol AA change Variation ID SNP ID
1 INSR p.Phe409Val VAR_004087 rs121913142
2 INSR p.Asn489Ser VAR_004089 rs121913147
3 INSR p.Arg762Ser VAR_004090 rs121913138
4 INSR p.Arg1020Gln VAR_004092 rs121913148
5 INSR p.Gly1035Val VAR_004093 rs121913135
6 INSR p.Ala1075Asp VAR_004094
7 INSR p.Ala1161Thr VAR_004095 rs121913139
8 INSR p.Ala1162Glu VAR_004096 rs121913154
9 INSR p.Pro1205Leu VAR_004099 rs129564532
10 INSR p.Trp1220Leu VAR_004100 rs52800171
11 INSR p.Trp1227Ser VAR_004101 rs121913140
12 INSR p.Arg279Cys VAR_015540 rs156847027
13 INSR p.Asp86Gly VAR_015907
14 INSR p.Leu89Pro VAR_015908
15 INSR p.Val167Leu VAR_015910 rs938519025
16 INSR p.Cys280Tyr VAR_015911
17 INSR p.Ala1055Val VAR_015923
18 INSR p.Arg1201Gln VAR_015929 rs121913156
19 INSR p.Glu1206Asp VAR_015931
20 INSR p.Arg1378Gln VAR_015934 rs52826008
21 INSR p.Arg279His VAR_031519 rs132969315

Expression for Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

Search GEO for disease gene expression data for Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans.

Pathways for Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

Pathways related to Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans according to KEGG:

36
# Name Kegg Source Accession
1 Adherens junction hsa04520
2 Insulin signaling pathway hsa04910
3 Type II diabetes mellitus hsa04930
4 Aldosterone-regulated sodium reabsorption hsa04960

GO Terms for Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

Sources for Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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