MCID: DBT020
MIFTS: 19

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

Categories: Genetic diseases, Reproductive diseases, Endocrine diseases, Rare 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 13
Insulin Receptor, Defect in, with Insulin-Resistant Diabetes Mellitus and Acanthosis Nigricans 57
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans, Type a 57
Insulin-Resistant Diabetes Mellitus with Acanthosis Nigricans Type a 75
Insulin-Resistance Syndrome Type a 59
Iran, Type a 57
Iran Type a 75

Characteristics:

Orphanet epidemiological data:

59
insulin-resistance syndrome type a
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood;

Classifications:



External Ids:

OMIM 57 610549
Orphanet 59 ORPHA2297
UMLS via Orphanet 74 C0342336 C0342278
ICD10 via Orphanet 34 E13

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

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans, also known as insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans, is related to insulin-resistant acanthosis nigricans, type a. An important gene associated with Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans is INSR (Insulin Receptor). Affiliated tissues include skin, and related phenotypes are delayed puberty and hyperkeratosis

Description from OMIM: 610549

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

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

# Related Disease Score Top Affiliating Genes
1 insulin-resistant acanthosis nigricans, type a 11.7

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

Clinical features from OMIM:

610549

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

59 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed puberty 59 Very frequent (99-80%)
2 hyperkeratosis 59 Very frequent (99-80%)
3 subcutaneous nodule 59 Very frequent (99-80%)
4 generalized hirsutism 59 Very frequent (99-80%)
5 accelerated skeletal maturation 59 Very frequent (99-80%)
6 type ii diabetes mellitus 59 Very frequent (99-80%)
7 generalized hyperpigmentation 59 Very frequent (99-80%)

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

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

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

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

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

41
Skin

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

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

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

75 (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
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
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

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

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 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

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