MCID: INS010
MIFTS: 20

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:



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 diabetes mellitus, noninsulin-dependent. 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. Related phenotypes are delayed puberty and hyperkeratosis

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 12.6
2 diabetes mellitus, noninsulin-dependent 9.7
3 type i 9.6

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

Human phenotypes related to Insulin-Resistant Acanthosis Nigricans, Type a:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 delayed puberty 32 hallmark (90%) HP:0000823
2 hyperkeratosis 32 hallmark (90%) HP:0000962
3 subcutaneous nodule 32 hallmark (90%) HP:0001482
4 generalized hirsutism 32 hallmark (90%) HP:0002230
5 accelerated skeletal maturation 32 hallmark (90%) HP:0005616
6 type ii diabetes mellitus 32 hallmark (90%) HP:0005978
7 generalized hyperpigmentation 32 hallmark (90%) HP:0007440

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

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
Glucose Metabolism, Insulin Sensitivity and I^-Cell Function in Type A Insulin Resistance Syndrome Around Puberty: A 9-Year Follow-up. ( 24155250 )
2014
3
Type A insulin resistance syndrome revealing a novel lamin A mutation. ( 15919811 )
2005
4
Long-term follow up in type A insulin resistant syndrome treated by insulin-like growth factor I. ( 7944536 )
1994

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 334)
# 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.3602G> A (p.Arg1201Gln) single nucleotide variant Pathogenic rs121913156 GRCh37 Chromosome 19, 7120688: 7120688
22 INSR NM_000208.3(INSR): c.3602G> A (p.Arg1201Gln) single nucleotide variant Pathogenic rs121913156 GRCh38 Chromosome 19, 7120677: 7120677
23 INSR NM_000208.3(INSR): c.5C> G (p.Ala2Gly) single nucleotide variant Benign rs7508518 GRCh37 Chromosome 19, 7293898: 7293898
24 INSR NM_000208.3(INSR): c.5C> G (p.Ala2Gly) single nucleotide variant Benign rs7508518 GRCh38 Chromosome 19, 7293887: 7293887
25 INSR NM_000208.3(INSR): c.2193G> A (p.Thr731=) single nucleotide variant Likely benign rs6413501 GRCh37 Chromosome 19, 7152775: 7152775
26 INSR NM_000208.3(INSR): c.2193G> A (p.Thr731=) single nucleotide variant Likely benign rs6413501 GRCh38 Chromosome 19, 7152764: 7152764
27 INSR NM_000208.3(INSR): c.3255C> T (p.His1085=) single nucleotide variant Benign rs1799817 GRCh37 Chromosome 19, 7125297: 7125297
28 INSR NM_000208.3(INSR): c.3255C> T (p.His1085=) single nucleotide variant Benign rs1799817 GRCh38 Chromosome 19, 7125286: 7125286
29 INSR NM_000208.3(INSR): c.3193C> G (p.Leu1065Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56395521 GRCh37 Chromosome 19, 7125359: 7125359
30 INSR NM_000208.3(INSR): c.3193C> G (p.Leu1065Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56395521 GRCh38 Chromosome 19, 7125348: 7125348
31 INSR NM_000208.3(INSR): c.190T> C (p.Leu64=) single nucleotide variant Conflicting interpretations of pathogenicity rs144836032 GRCh37 Chromosome 19, 7267818: 7267818
32 INSR NM_000208.3(INSR): c.190T> C (p.Leu64=) single nucleotide variant Conflicting interpretations of pathogenicity rs144836032 GRCh38 Chromosome 19, 7267807: 7267807
33 INSR NM_000208.3(INSR): c.1650G> A (p.Ala550=) single nucleotide variant Benign rs2059806 GRCh37 Chromosome 19, 7166376: 7166376
34 INSR NM_000208.3(INSR): c.1650G> A (p.Ala550=) single nucleotide variant Benign rs2059806 GRCh38 Chromosome 19, 7166365: 7166365
35 INSR NM_000208.3(INSR): c.2838C> G (p.Asp946Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146588336 GRCh38 Chromosome 19, 7132162: 7132162
36 INSR NM_000208.3(INSR): c.2838C> G (p.Asp946Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146588336 GRCh37 Chromosome 19, 7132173: 7132173
37 INSR NM_000208.3(INSR): c.2243C> T (p.Ser748Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs143523271 GRCh37 Chromosome 19, 7150532: 7150532
38 INSR NM_000208.3(INSR): c.2243C> T (p.Ser748Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs143523271 GRCh38 Chromosome 19, 7150521: 7150521
39 INSR NM_000208.3(INSR): c.1080C> T (p.Cys360=) single nucleotide variant Conflicting interpretations of pathogenicity rs56066516 GRCh38 Chromosome 19, 7174626: 7174626
40 INSR NM_000208.3(INSR): c.1080C> T (p.Cys360=) single nucleotide variant Conflicting interpretations of pathogenicity rs56066516 GRCh37 Chromosome 19, 7174637: 7174637
41 INSR NM_000208.3(INSR): c.687C> T (p.Thr229=) single nucleotide variant Likely benign rs150568177 GRCh38 Chromosome 19, 7184603: 7184603
42 INSR NM_000208.3(INSR): c.687C> T (p.Thr229=) single nucleotide variant Likely benign rs150568177 GRCh37 Chromosome 19, 7184614: 7184614
43 INSR NM_000208.3(INSR): c.653-5_653-4dupTC duplication Benign rs780601620 GRCh37 Chromosome 19, 7184652: 7184653
44 INSR NM_000208.3(INSR): c.653-5_653-4dupTC duplication Benign rs780601620 GRCh38 Chromosome 19, 7184641: 7184642
45 INSR NM_000208.3(INSR): c.41T> C (p.Leu14Pro) single nucleotide variant Uncertain significance rs745857330 GRCh37 Chromosome 19, 7293862: 7293862
46 INSR NM_000208.3(INSR): c.41T> C (p.Leu14Pro) single nucleotide variant Uncertain significance rs745857330 GRCh38 Chromosome 19, 7293851: 7293851
47 INSR NM_000208.3(INSR): c.*4794T> C single nucleotide variant Benign rs10415841 GRCh37 Chromosome 19, 7112273: 7112273
48 INSR NM_000208.3(INSR): c.*4794T> C single nucleotide variant Benign rs10415841 GRCh38 Chromosome 19, 7112262: 7112262
49 INSR NM_000208.3(INSR): c.*4760G> A single nucleotide variant Likely benign rs574836227 GRCh37 Chromosome 19, 7112307: 7112307
50 INSR NM_000208.3(INSR): c.*4760G> A single nucleotide variant Likely benign rs574836227 GRCh38 Chromosome 19, 7112296: 7112296

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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31 HMDB
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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