MCID: INS010
MIFTS: 24

Insulin-Resistant Acanthosis Nigricans, Type a

Categories: Rare diseases

Aliases & Classifications for Insulin-Resistant Acanthosis Nigricans, Type a

MalaCards integrated aliases for Insulin-Resistant Acanthosis Nigricans, Type a:

Name: Insulin-Resistant Acanthosis Nigricans, Type a 53
Insulin-Resistant Diabetes Mellitus and Acanthosis Nigricans 25 29 6 40
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 53 25
Insulin Resistance Syndrome, Type a 25 6
Type a Insulin Resistance Syndrome 53 25
Insulin Resistance - Type a 25 73
Extreme Insulin Resistance with Acanthosis Nigricans, Hirsutism and Abnormal Insulin Receptors 25
Insulin-Resistant Diabetes Mellitus with Acanthosis Nigricans 37
Insulin-Resistance Syndrome Type a 25
Type a Insulin Resistance 25
Iran, Type a 53

Classifications:



External Ids:

KEGG 37 H01228
UMLS 73 C0342336

Summaries for Insulin-Resistant Acanthosis Nigricans, Type a

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.

MalaCards based summary : Insulin-Resistant Acanthosis Nigricans, Type a, also known as insulin-resistant diabetes mellitus and acanthosis nigricans, is related to diabetes mellitus, insulin-resistant, with acanthosis nigricans and lipodystrophy, familial partial, type 2. An important gene associated with Insulin-Resistant Acanthosis Nigricans, Type a is INSR (Insulin Receptor), and among its related pathways/superpathways are Adherens junction and Insulin signaling pathway. Affiliated tissues include liver, heart and ovary.

Related Diseases for Insulin-Resistant Acanthosis Nigricans, Type a

Diseases related to Insulin-Resistant Acanthosis Nigricans, Type a via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, insulin-resistant, with acanthosis nigricans 12.8
2 lipodystrophy, familial partial, type 2 11.6
3 insulin-resistance type b 11.1
4 insulin-like growth factor i 9.8
5 acanthosis nigricans 9.7
6 polycystic ovary syndrome 9.7
7 hyperandrogenism 9.7

Graphical network of the top 20 diseases related to Insulin-Resistant Acanthosis Nigricans, Type a:



Diseases related to Insulin-Resistant Acanthosis Nigricans, Type a

Symptoms & Phenotypes for Insulin-Resistant Acanthosis Nigricans, Type a

Drugs & Therapeutics for Insulin-Resistant Acanthosis Nigricans, Type a

Search Clinical Trials , NIH Clinical Center for Insulin-Resistant Acanthosis Nigricans, Type a

Genetic Tests for Insulin-Resistant Acanthosis Nigricans, Type a

Genetic tests related to Insulin-Resistant Acanthosis Nigricans, Type a:

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

Anatomical Context for Insulin-Resistant Acanthosis Nigricans, Type a

MalaCards organs/tissues related to Insulin-Resistant Acanthosis Nigricans, Type a:

41
Liver, Heart, Ovary, Bone, Testes, Endothelial, Skeletal Muscle

Publications for Insulin-Resistant Acanthosis Nigricans, Type a

Articles related to Insulin-Resistant Acanthosis Nigricans, Type a:

# Title Authors Year
1
Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndrome. ( 24468607 )
2014
2
Type A insulin resistance syndrome revealing a novel lamin A mutation. ( 15919811 )
2005

Variations for Insulin-Resistant Acanthosis Nigricans, Type a

ClinVar genetic disease variations for Insulin-Resistant Acanthosis Nigricans, Type a:

6 (show top 50) (show all 338)
# Gene Variation Type Significance SNP ID Assembly Location
1 INSR NM_000208.3(INSR): c.3104G> T (p.Gly1035Val) single nucleotide variant Pathogenic rs121913135 GRCh37 Chromosome 19, 7125448: 7125448
2 INSR NM_000208.3(INSR): c.3104G> T (p.Gly1035Val) single nucleotide variant Pathogenic rs121913135 GRCh38 Chromosome 19, 7125437: 7125437
3 INSR NM_000208.3(INSR): c.3680G> C (p.Trp1227Ser) single nucleotide variant Pathogenic rs121913140 GRCh37 Chromosome 19, 7119574: 7119574
4 INSR NM_000208.3(INSR): c.3680G> C (p.Trp1227Ser) single nucleotide variant Pathogenic rs121913140 GRCh38 Chromosome 19, 7119563: 7119563
5 INSR NM_000208.3(INSR): c.2286G> T (p.Arg762Ser) single nucleotide variant Pathogenic rs121913138 GRCh37 Chromosome 19, 7143083: 7143083
6 INSR NM_000208.3(INSR): c.2286G> T (p.Arg762Ser) single nucleotide variant Pathogenic rs121913138 GRCh38 Chromosome 19, 7143072: 7143072
7 INSR INSR, EX17, ALU undetermined variant Pathogenic
8 INSR NM_000208.3(INSR): c.3481G> A (p.Ala1161Thr) single nucleotide variant Pathogenic rs121913139 GRCh37 Chromosome 19, 7122673: 7122673
9 INSR NM_000208.3(INSR): c.3481G> A (p.Ala1161Thr) single nucleotide variant Pathogenic rs121913139 GRCh38 Chromosome 19, 7122662: 7122662
10 INSR NM_000208.3(INSR): c.3079C> T (p.Arg1027Ter) single nucleotide variant Pathogenic rs121913144 GRCh37 Chromosome 19, 7125473: 7125473
11 INSR NM_000208.3(INSR): c.3079C> T (p.Arg1027Ter) single nucleotide variant Pathogenic rs121913144 GRCh38 Chromosome 19, 7125462: 7125462
12 INSR NM_000208.3(INSR): c.479G> A (p.Trp160Ter) single nucleotide variant Pathogenic rs121913146 GRCh37 Chromosome 19, 7267529: 7267529
13 INSR NM_000208.3(INSR): c.479G> A (p.Trp160Ter) single nucleotide variant Pathogenic rs121913146 GRCh38 Chromosome 19, 7267518: 7267518
14 INSR NM_000208.3(INSR): c.1466A> G (p.Asn489Ser) single nucleotide variant Pathogenic rs121913147 GRCh37 Chromosome 19, 7170565: 7170565
15 INSR NM_000208.3(INSR): c.1466A> G (p.Asn489Ser) single nucleotide variant Pathogenic rs121913147 GRCh38 Chromosome 19, 7170554: 7170554
16 INSR NM_000208.3(INSR): c.2683-542_2842+544del deletion Pathogenic GRCh38 Chromosome 19, 7131594: 7132859
17 INSR NM_000208.3(INSR): c.3059G> A (p.Arg1020Gln) single nucleotide variant Pathogenic rs121913148 GRCh37 Chromosome 19, 7125493: 7125493
18 INSR NM_000208.3(INSR): c.3059G> A (p.Arg1020Gln) single nucleotide variant Pathogenic rs121913148 GRCh38 Chromosome 19, 7125482: 7125482
19 INSR NM_000208.3(INSR): c.3485C> A (p.Ala1162Glu) single nucleotide variant Pathogenic rs121913154 GRCh37 Chromosome 19, 7122669: 7122669
20 INSR NM_000208.3(INSR): c.3485C> A (p.Ala1162Glu) single nucleotide variant Pathogenic rs121913154 GRCh38 Chromosome 19, 7122658: 7122658
21 INSR NM_000208.3(INSR): c.3034G> A (p.Val1012Met) single nucleotide variant Conflicting interpretations of pathogenicity rs1799816 GRCh37 Chromosome 19, 7125518: 7125518
22 INSR NM_000208.3(INSR): c.3034G> A (p.Val1012Met) single nucleotide variant Conflicting interpretations of pathogenicity rs1799816 GRCh38 Chromosome 19, 7125507: 7125507
23 INSR NM_000208.3(INSR): c.3602G> A (p.Arg1201Gln) single nucleotide variant Pathogenic rs121913156 GRCh37 Chromosome 19, 7120688: 7120688
24 INSR NM_000208.3(INSR): c.3602G> A (p.Arg1201Gln) single nucleotide variant Pathogenic rs121913156 GRCh38 Chromosome 19, 7120677: 7120677
25 LMNA NM_170707.3(LMNA): c.1804G> A (p.Gly602Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs60662302 GRCh37 Chromosome 1, 156108384: 156108384
26 LMNA NM_170707.3(LMNA): c.1804G> A (p.Gly602Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs60662302 GRCh38 Chromosome 1, 156138593: 156138593
27 INSR NM_000208.3(INSR): c.5C> G (p.Ala2Gly) single nucleotide variant Benign rs7508518 GRCh37 Chromosome 19, 7293898: 7293898
28 INSR NM_000208.3(INSR): c.5C> G (p.Ala2Gly) single nucleotide variant Benign rs7508518 GRCh38 Chromosome 19, 7293887: 7293887
29 INSR NM_000208.3(INSR): c.2193G> A (p.Thr731=) single nucleotide variant Likely benign rs6413501 GRCh37 Chromosome 19, 7152775: 7152775
30 INSR NM_000208.3(INSR): c.2193G> A (p.Thr731=) single nucleotide variant Likely benign rs6413501 GRCh38 Chromosome 19, 7152764: 7152764
31 INSR NM_000208.3(INSR): c.3255C> T (p.His1085=) single nucleotide variant Benign rs1799817 GRCh37 Chromosome 19, 7125297: 7125297
32 INSR NM_000208.3(INSR): c.3255C> T (p.His1085=) single nucleotide variant Benign rs1799817 GRCh38 Chromosome 19, 7125286: 7125286
33 INSR NM_000208.3(INSR): c.3193C> G (p.Leu1065Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56395521 GRCh37 Chromosome 19, 7125359: 7125359
34 INSR NM_000208.3(INSR): c.3193C> G (p.Leu1065Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56395521 GRCh38 Chromosome 19, 7125348: 7125348
35 INSR NM_000208.3(INSR): c.190T> C (p.Leu64=) single nucleotide variant Conflicting interpretations of pathogenicity rs144836032 GRCh37 Chromosome 19, 7267818: 7267818
36 INSR NM_000208.3(INSR): c.190T> C (p.Leu64=) single nucleotide variant Conflicting interpretations of pathogenicity rs144836032 GRCh38 Chromosome 19, 7267807: 7267807
37 INSR NM_000208.3(INSR): c.1650G> A (p.Ala550=) single nucleotide variant Benign rs2059806 GRCh37 Chromosome 19, 7166376: 7166376
38 INSR NM_000208.3(INSR): c.1650G> A (p.Ala550=) single nucleotide variant Benign rs2059806 GRCh38 Chromosome 19, 7166365: 7166365
39 INSR NM_000208.3(INSR): c.2838C> G (p.Asp946Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146588336 GRCh38 Chromosome 19, 7132162: 7132162
40 INSR NM_000208.3(INSR): c.2838C> G (p.Asp946Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146588336 GRCh37 Chromosome 19, 7132173: 7132173
41 INSR NM_000208.3(INSR): c.2243C> T (p.Ser748Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs143523271 GRCh37 Chromosome 19, 7150532: 7150532
42 INSR NM_000208.3(INSR): c.2243C> T (p.Ser748Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs143523271 GRCh38 Chromosome 19, 7150521: 7150521
43 INSR NM_000208.3(INSR): c.1080C> T (p.Cys360=) single nucleotide variant Conflicting interpretations of pathogenicity rs56066516 GRCh38 Chromosome 19, 7174626: 7174626
44 INSR NM_000208.3(INSR): c.1080C> T (p.Cys360=) single nucleotide variant Conflicting interpretations of pathogenicity rs56066516 GRCh37 Chromosome 19, 7174637: 7174637
45 INSR NM_000208.3(INSR): c.687C> T (p.Thr229=) single nucleotide variant Likely benign rs150568177 GRCh38 Chromosome 19, 7184603: 7184603
46 INSR NM_000208.3(INSR): c.687C> T (p.Thr229=) single nucleotide variant Likely benign rs150568177 GRCh37 Chromosome 19, 7184614: 7184614
47 INSR NM_000208.3(INSR): c.653-5_653-4dupTC duplication Benign rs780601620 GRCh37 Chromosome 19, 7184652: 7184653
48 INSR NM_000208.3(INSR): c.653-5_653-4dupTC duplication Benign rs780601620 GRCh38 Chromosome 19, 7184641: 7184642
49 INSR NM_000208.3(INSR): c.41T> C (p.Leu14Pro) single nucleotide variant Uncertain significance rs745857330 GRCh37 Chromosome 19, 7293862: 7293862
50 INSR NM_000208.3(INSR): c.41T> C (p.Leu14Pro) single nucleotide variant Uncertain significance rs745857330 GRCh38 Chromosome 19, 7293851: 7293851

Expression for Insulin-Resistant Acanthosis Nigricans, Type a

Search GEO for disease gene expression data for Insulin-Resistant Acanthosis Nigricans, Type a.

Pathways for Insulin-Resistant Acanthosis Nigricans, Type a

Pathways related to Insulin-Resistant Acanthosis Nigricans, Type a according to KEGG:

37
# 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 Insulin-Resistant Acanthosis Nigricans, Type a

Sources for Insulin-Resistant Acanthosis Nigricans, Type a

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