IRAN TYPE A
MCID: DBT020
MIFTS: 39

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 56 52 25 13
Insulin-Resistant Diabetes Mellitus and Acanthosis Nigricans 25 29 6 39
Insulin Resistance Syndrome, Type a 25 6
Type a Insulin Resistance Syndrome 52 25
Insulin-Resistance Syndrome Type a 25 58
Iran, Type a 56 52
Insulin Receptor, Defect in, with Insulin-Resistant Diabetes Mellitus and Acanthosis Nigricans 56
Extreme Insulin Resistance with Acanthosis Nigricans, Hirsutism and Abnormal Insulin Receptors 25
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans, Type a 56
Insulin-Resistant Diabetes Mellitus with Acanthosis Nigricans Type a 73
Insulin-Resistant Diabetes Mellitus with Acanthosis Nigricans 36
Insulin-Resistant Acanthosis Nigricans, Type a 52
Insulin Resistance - Type a 25
Type a Insulin Resistance 25
Iran Type a 73

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 56 610549
KEGG 36 H01228
ICD10 via Orphanet 33 E13
UMLS via Orphanet 72 C0342278 C0342336
Orphanet 58 ORPHA2297

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

Genetics Home Reference : 25 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 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities and lipodystrophy, familial partial, type 2. 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, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include skin, ovary and cortex, 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 : 73 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

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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Empagliflozin Approved Phase 3 864070-44-0
2 Insulin, Globin Zinc Phase 3
3 insulin Phase 3
4 Hypoglycemic Agents Phase 3
5 Sodium-Glucose Transporter 2 Inhibitors Phase 3

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 Recruiting NCT04018365 Phase 3 Empagliflozin Tablets
3 Effect of Leptin Therapy in the Treatment of Severe Insulin Resistance Enrolling by invitation NCT00085982 Phase 2 Metreleptin

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
Skin, Ovary, Cortex, Adipocyte, Adrenal Cortex, Pineal

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

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

(show all 39)
# 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. 56 6
8288049 1994
2
Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor. 56 6
2544998 1989
3
Characterization of binding and phosphorylation defects of erythrocyte insulin receptors in the type A syndrome of insulin resistance. 6 56
3510919 1986
4
Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. 6
27896077 2014
5
A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia. 56
19470471 2009
6
A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene. 6
15161766 2004
7
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
8
Autosomal dominant insulin resistance syndrome due to postbinding defect. 56
1282780 1992
9
Abnormal messenger ribonucleic acid (mRNA) transcribed from a mutant insulin receptor gene in a patient with type A insulin resistance. 6
1644241 1992
10
Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene alleles. 6
2002058 1991
11
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
12
Phosphorylation state and biological function of a mutant human insulin receptor Val996. 6
2203761 1990
13
Functional properties of a naturally occurring Trp1200----Ser1200 mutation of the insulin receptor. 6
1963473 1990
14
Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. 6
2365819 1990
15
Insulin-resistant diabetes associated with partial deletion of insulin-receptor gene. 6
1971035 1990
16
Human diabetes associated with a deletion of the tyrosine kinase domain of the insulin receptor. 6
2544997 1989
17
Molecular defects in insulin action. 6
2662406 1989
18
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
19
The insulin receptor and the molecular mechanism of insulin action. 56
3049671 1988
20
Defective processing of insulin-receptor precursor in cultured lymphocytes from a patient with extreme insulin resistance. 6
3384956 1988
21
Insulin-resistant diabetes due to a point mutation that prevents insulin proreceptor processing. 6
3283938 1988
22
Defects in human insulin receptor gene expression. 56
2840573 1988
23
Functional characteristics of decreased insulin receptors on fibroblasts obtained from a subject with severe insulin resistance and acanthosis nigricans. 56
3510921 1986
24
Familial insulin resistance and acanthosis nigricans. Presence of a postbinding defect. 56
3510137 1986
25
The human insulin receptor cDNA: the structural basis for hormone-activated transmembrane signalling. 6
2859121 1985
26
Impaired insulin-induced RNA synthesis secondary to a genetically defective insulin receptor. 56
2578425 1985
27
Defect in insulin receptor phosphorylation in erythrocytes and fibroblasts associated with severe insulin resistance. 56
6392291 1984
28
Defect in phosphorylation of insulin receptors in cells from an insulin-resistant patient with normal insulin binding. 56
6141638 1984
29
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
30
Familial insulin-resistant diabetes secondary to an affinity defect of the insulin receptor. 56
6352462 1983
31
Acanthosis nigricans, hirsutism, insulin resistance and insulin receptor defect. 56
6749340 1982
32
Insulin resistance in a child with Acanthosis nigricans type A. 56
7136687 1982
33
Insulin resistance and diabetes due to a genetic defect in insulin receptors. 6
7042734 1982
34
Insulin resistance, acanthosis nigricans, and normal insulin receptors in a young woman: evidence for a postreceptor defect. 56
400728 1978
35
The syndromes of insulin resistance and acanthosis nigricans. Insulin-receptor disorders in man. 56
176581 1976
36
Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus; report of 3 cases. 6
13302174 1956
37
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
38
Partial lipodystrophy associated with juvenile dermatomyositis: report of two cases. 61
8987057 1996
39
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 262) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 INSR NM_000208.4(INSR):c.3104G>T (p.Gly1035Val)SNV Pathogenic 14679 rs121913135 19:7125448-7125448 19:7125437-7125437
2 INSR NM_000208.4(INSR):c.3680G>C (p.Trp1227Ser)SNV Pathogenic 14683 rs121913140 19:7119574-7119574 19:7119563-7119563
3 INSR NM_000208.4(INSR):c.2286G>T (p.Arg762Ser)SNV Pathogenic 14684 rs121913138 19:7143083-7143083 19:7143072-7143072
4 INSR INSR, EX17, ALUundetermined variant Pathogenic 14685
5 INSR NM_000208.4(INSR):c.3481G>A (p.Ala1161Thr)SNV Pathogenic 14687 rs121913139 19:7122673-7122673 19:7122662-7122662
6 INSR NM_000208.4(INSR):c.3079C>T (p.Arg1027Ter)SNV Pathogenic 14692 rs121913144 19:7125473-7125473 19:7125462-7125462
7 INSR NM_000208.4(INSR):c.479G>A (p.Trp160Ter)SNV Pathogenic 14694 rs121913146 19:7267529-7267529 19:7267518-7267518
8 INSR NM_000208.4(INSR):c.1466A>G (p.Asn489Ser)SNV Pathogenic 14695 rs121913147 19:7170565-7170565 19:7170554-7170554
9 INSR NM_000208.3(INSR):c.2683-542_2842+544deldeletion Pathogenic 14696 19:7131594-7132859
10 INSR NM_000208.4(INSR):c.3059G>A (p.Arg1020Gln)SNV Pathogenic 14697 rs121913148 19:7125493-7125493 19:7125482-7125482
11 INSR NM_000208.4(INSR):c.3485C>A (p.Ala1162Glu)SNV Pathogenic 14704 rs121913154 19:7122669-7122669 19:7122658-7122658
12 INSR NM_000208.4(INSR):c.3602G>A (p.Arg1201Gln)SNV Pathogenic 14708 rs121913156 19:7120688-7120688 19:7120677-7120677
13 LMNA NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser)SNV Conflicting interpretations of pathogenicity 48052 rs60662302 1:156108384-156108384 1:156138593-156138593
14 INSR NM_000208.4(INSR):c.3034G>A (p.Val1012Met)SNV Conflicting interpretations of pathogenicity 14707 rs1799816 19:7125518-7125518 19:7125507-7125507
15 INSR NM_000208.4(INSR):c.190T>C (p.Leu64=)SNV Conflicting interpretations of pathogenicity 195041 rs144836032 19:7267818-7267818 19:7267807-7267807
16 INSR NM_000208.4(INSR):c.2838C>G (p.Asp946Glu)SNV Conflicting interpretations of pathogenicity 211195 rs146588336 19:7132173-7132173 19:7132162-7132162
17 INSR NM_000208.4(INSR):c.2736G>A (p.Arg912=)SNV Conflicting interpretations of pathogenicity 211194 rs147125937 19:7132275-7132275 19:7132264-7132264
18 INSR NM_000208.4(INSR):c.2243C>T (p.Ser748Leu)SNV Conflicting interpretations of pathogenicity 211190 rs143523271 19:7150532-7150532 19:7150521-7150521
19 INSR NM_000208.4(INSR):c.151G>A (p.Glu51Lys)SNV Conflicting interpretations of pathogenicity 286286 rs140852238 19:7267857-7267857 19:7267846-7267846
20 INSR NM_000208.4(INSR):c.2295C>T (p.Gly765=)SNV Conflicting interpretations of pathogenicity 330462 rs142654992 19:7143074-7143074 19:7143063-7143063
21 INSR NM_000208.4(INSR):c.2117C>A (p.Ala706Asp)SNV Conflicting interpretations of pathogenicity 435518 rs142391704 19:7152851-7152851 19:7152840-7152840
22 INSR NM_000208.4(INSR):c.225C>T (p.Asp75=)SNV Conflicting interpretations of pathogenicity 435514 rs41352749 19:7267783-7267783 19:7267772-7267772
23 INSR NM_000208.4(INSR):c.2388G>C (p.Arg796Ser)SNV Conflicting interpretations of pathogenicity 549552 rs78433961 19:7142981-7142981 19:7142970-7142970
24 INSR NM_000208.4(INSR):c.2793G>A (p.Ala931=)SNV Conflicting interpretations of pathogenicity 739582 19:7132218-7132218 19:7132207-7132207
25 INSR NM_000208.4(INSR):c.624A>G (p.Arg208=)SNV Conflicting interpretations of pathogenicity 742862 19:7267384-7267384 19:7267373-7267373
26 INSR NM_000208.4(INSR):c.575G>A (p.Gly192Asp)SNV Conflicting interpretations of pathogenicity 743458 19:7267433-7267433 19:7267422-7267422
27 INSR NM_000208.4(INSR):c.2263C>T (p.Pro755Ser)SNV Conflicting interpretations of pathogenicity 796295 19:7150512-7150512 19:7150501-7150501
28 INSR NM_000208.4(INSR):c.2842+6T>ASNV Uncertain significance 803518 19:7132163-7132163 19:7132152-7132152
29 INSR NM_000208.4(INSR):c.653-9T>CSNV Uncertain significance 592488 rs868296217 19:7184657-7184657 19:7184646-7184646
30 INSR NM_000208.4(INSR):c.3143G>A (p.Gly1048Asp)SNV Uncertain significance 631539 rs200921389 19:7125409-7125409 19:7125398-7125398
31 INSR NM_000208.4(INSR):c.2498G>A (p.Arg833Gln)SNV Uncertain significance 502299 rs777565396 19:7142871-7142871 19:7142860-7142860
32 INSR NM_000208.4(INSR):c.*97A>GSNV Uncertain significance 893832 19:7116970-7116970 19:7116959-7116959
33 INSR NM_000208.4(INSR):c.*87C>TSNV Uncertain significance 894751 19:7116980-7116980 19:7116969-7116969
34 INSR NM_000208.4(INSR):c.4139A>G (p.Asn1380Ser)SNV Uncertain significance 892766 19:7117077-7117077 19:7117066-7117066
35 INSR NM_000208.4(INSR):c.4133G>C (p.Arg1378Pro)SNV Uncertain significance 892767 19:7117083-7117083 19:7117072-7117072
36 INSR NM_000208.4(INSR):c.3844A>G (p.Thr1282Ala)SNV Uncertain significance 893573 19:7117372-7117372 19:7117361-7117361
37 INSR NM_000208.4(INSR):c.3501C>T (p.Val1167=)SNV Uncertain significance 893864 19:7122653-7122653 19:7122642-7122642
38 INSR NM_000208.4(INSR):c.3023G>C (p.Cys1008Ser)SNV Uncertain significance 893894 19:7125529-7125529 19:7125518-7125518
39 INSR NM_000208.4(INSR):c.2848G>A (p.Val950Ile)SNV Uncertain significance 894288 19:7128960-7128960 19:7128949-7128949
40 INSR NM_000208.4(INSR):c.2829C>T (p.Tyr943=)SNV Uncertain significance 892834 19:7132182-7132182 19:7132171-7132171
41 INSR NM_000208.4(INSR):c.2739G>T (p.Leu913=)SNV Uncertain significance 893639 19:7132272-7132272 19:7132261-7132261
42 INSR NM_000208.4(INSR):c.2698G>A (p.Val900Ile)SNV Uncertain significance 893925 19:7132313-7132313 19:7132302-7132302
43 INSR NM_000208.4(INSR):c.2602C>T (p.His868Tyr)SNV Uncertain significance 892863 19:7141768-7141768 19:7141757-7141757
44 INSR NM_000208.4(INSR):c.2596G>A (p.Val866Ile)SNV Uncertain significance 892864 19:7141774-7141774 19:7141763-7141763
45 INSR NM_000208.4(INSR):c.2522G>A (p.Ser841Asn)SNV Uncertain significance 894351 19:7142847-7142847 19:7142836-7142836
46 INSR NM_000208.4(INSR):c.2380G>A (p.Glu794Lys)SNV Uncertain significance 892904 19:7142989-7142989 19:7142978-7142978
47 INSR NM_000208.4(INSR):c.2276G>A (p.Arg759Gln)SNV Uncertain significance 893980 19:7143093-7143093 19:7143082-7143082
48 INSR NM_000208.4(INSR):c.2121C>T (p.Gly707=)SNV Uncertain significance 892937 19:7152847-7152847 19:7152836-7152836
49 INSR NM_000208.4(INSR):c.1988C>T (p.Ala663Val)SNV Uncertain significance 893170 19:7163084-7163084 19:7163073-7163073
50 INSR NM_000208.4(INSR):c.1866C>T (p.Pro622=)SNV Uncertain significance 894017 19:7163206-7163206 19:7163195-7163195

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

73 (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
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

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35 IUPHAR
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44 MESH via Orphanet
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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