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MCID: PNL019
MIFTS: 56

Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities

Categories: Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and...

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MalaCards integrated aliases for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities:

Name: Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 57 53 25
Rabson-Mendenhall Syndrome 57 53 25 59 75 37 13 55 73
Mendenhall Syndrome 57 53 25 75
Pineal Hyperplasia and Diabetes Mellitus Syndrome 25 29 6
Rms 25 75
Hyperplasia, Pineal, Insulin-Resistant Diabetes Mellitus, Somatic Abnormalities 40

Characteristics:

Orphanet epidemiological data:

59
rabson-mendenhall syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of acanthosis nigricans correlates with onset of diabetes
survival to 5-15 years of age
allelic to leprechaunism and insulin-resistant diabetes mellitus with acanthosis nigricans


HPO:

32
pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare skin diseases
Rare endocrine diseases


Sources

Summaries for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and...

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NIH Rare Diseases : 53 Rabson-Mendenhall syndrome is a genetic disorder characterized by severe insulin resistance. Insulin, a hormone produced by the pancreas, regulates blood sugar levels by promoting the movement of glucose into cells for energy production or into the liver and fat cells for storage. Symptoms of Rabson-Mendenhall syndrome may include intrauterine and postnatal growth retardation, hypertrophy of muscle and fat tissues, abnormalities of the head and face, abnormalities of the teeth and nails, and skin abnormalities such as acanthosis nigricans. Additional symptoms may also be present. Rabson-Mendenhall syndrome is inherited in an autosomal recessive manner. Treatment is difficult and may include high doses of insulin and/or recombinant insulin-like growth factor.

MalaCards based summary : Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities, also known as rabson-mendenhall syndrome, is related to diabetes mellitus, noninsulin-dependent and insulin-like growth factor i, and has symptoms including dry skin An important gene associated with Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities is INSR (Insulin Receptor), and among its related pathways/superpathways are Adherens junction and Insulin signaling pathway. The drugs insulin and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include pineal, skin and liver, and related phenotypes are diabetes mellitus and precocious puberty

Genetics Home Reference : 25 Rabson-Mendenhall 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 Rabson-Mendenhall 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.

UniProtKB/Swiss-Prot : 75 Rabson-Mendenhall syndrome: Severe insulin resistance syndrome characterized by insulin-resistant diabetes mellitus with pineal hyperplasia and somatic abnormalities. Typical features include coarse, senile-appearing facies, dental and skin abnormalities, abdominal distension, and phallic enlargement. Inheritance is autosomal recessive.

Wikipedia : 76 Rabson–Mendenhall syndrome is a rare autosomal recessive disorder characterized by severe insulin... more...

Description from OMIM: 262190
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Related Diseases for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and...

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Diseases related to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, noninsulin-dependent 28.6 IGF1 IGFBP3 INS INSR
2 insulin-like growth factor i 28.4 IGF1 IGFBP3 INS INSR
3 rhabdomyosarcoma 11.3
4 insulin-resistance type b 11.3
5 myoglobinuria, recurrent 10.9
6 large cell carcinoma with rhabdoid phenotype 10.9
7 medullary sponge kidney 10.4
8 stroke, ischemic 10.2
9 diabetes mellitus, ketosis-prone 10.2
10 hepatitis 10.2
11 cerebritis 10.2
12 insulin autoimmune syndrome 10.1 INS INSR
13 embryonal rhabdomyosarcoma 10.1
14 hyperinsulinemic hypoglycemia 10.0 INS INSR
15 developmental dysplasia of the hip 1 9.9
16 rhabdomyosarcoma 2 9.9
17 slipped capital femoral epiphysis 9.9 IGF1 IGFBP3
18 pituitary adenoma 1, multiple types 9.9 IGF1 IGFBP3
19 diffuse idiopathic skeletal hyperostosis 9.9 IGF1 IGFBP3
20 central precocious puberty 9.9 IGF1 IGFBP3
21 mammographic density 9.8 IGF1 IGFBP3
22 isolated growth hormone deficiency, type ib 9.8 IGF1 IGFBP3
23 fasting hypoglycemia 9.8 IGF1 INSR
24 acid-labile subunit deficiency 9.8 IGF1 IGFBP3
25 laron syndrome 9.8 IGF1 IGFBP3
26 systemic lupus erythematosus 9.8
27 testicular regression syndrome 9.8
28 leukemia, acute myeloid 9.8
29 leukemia 9.8
30 systemic mastocytosis 9.8
31 lymphadenitis 9.8
32 botryoid rhabdomyosarcoma 9.8
33 myeloid leukemia 9.8
34 lupus erythematosus 9.8
35 pediatric systemic lupus erythematosus 9.8
36 growth hormone deficiency 9.8 IGF1 IGFBP3
37 osteogenesis imperfecta, type i 9.8 IGF1 IGFBP3
38 gestational diabetes 9.8 INS INSR
39 exudative vitreoretinopathy 1 9.7 IGF1 IGFBP3
40 sheehan syndrome 9.7 IGF1 INS
41 colorectal adenoma 9.7 IGF1 IGFBP3
42 male reproductive organ cancer 9.7 IGF1 IGFBP3
43 rubeosis iridis 9.7 IGF1 INS
44 endocrine pancreas disease 9.7 IGF1 INS
45 pancreas disease 9.7 IGF1 INS
46 turner syndrome 9.7 IGF1 IGFBP3
47 anovulation 9.7 IGF1 INS
48 thyroid gland disease 9.7 IGF1 INS
49 pituitary gland disease 9.7 IGF1 INS
50 gonadal disease 9.7 IGF1 INS

Graphical network of the top 20 diseases related to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities:



Diseases related to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities
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Symptoms & Phenotypes for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and...

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Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
precocious puberty
diabetic ketoacidosis
insulin resistant diabetes mellitus
altered melatonin secretion

Skin Nails Hair Skin:
acanthosis nigricans
dry skin
lichenified skin

Genitourinary External Genitalia Female:
clitoromegaly

Skin Nails Hair Hair:
hypertrichosis

Neurologic Central Nervous System:
developmental delay
pineal hypertrophy

Head And Neck Mouth:
high-arched palate
large, fissured tongue
gingival hypoplasia

Growth Weight:
weight less than 5th percentile

Growth Height:
short stature

Laboratory Abnormalities:
hyperinsulinemia
postprandial hyperglycemia (early in disease course)
fasting hypoglycemia (early in disease course)

Growth Other:
small for gestational age

Skin Nails Hair Nails:
onychauxis

Head And Neck Face:
prognathism
coarse facies

Genitourinary External Genitalia Male:
large penis

Head And Neck Teeth:
dental dysplasia
premature eruption of teeth


Clinical features from OMIM:

262190

Human phenotypes related to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000819
2 precocious puberty 59 32 frequent (33%) Frequent (79-30%) HP:0000826
3 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
4 mandibular prognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000303
5 coarse hair 59 32 frequent (33%) Frequent (79-30%) HP:0002208
6 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
7 proteinuria 59 32 frequent (33%) Frequent (79-30%) HP:0000093
8 acanthosis nigricans 59 32 hallmark (90%) Very frequent (99-80%) HP:0000956
9 peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0009830
10 generalized hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0002230
11 dry skin 59 32 frequent (33%) Frequent (79-30%) HP:0000958
12 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
13 abnormality of the upper urinary tract 59 32 occasional (7.5%) Occasional (29-5%) HP:0010935
14 polycystic ovaries 59 32 occasional (7.5%) Occasional (29-5%) HP:0000147
15 prematurely aged appearance 59 32 frequent (33%) Frequent (79-30%) HP:0007495
16 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
17 growth hormone excess 59 32 hallmark (90%) Very frequent (99-80%) HP:0000845
18 long penis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000040
19 female pseudohermaphroditism 59 32 hallmark (90%) Very frequent (99-80%) HP:0010458
20 abnormality of the thyroid gland 59 32 frequent (33%) Frequent (79-30%) HP:0000820
21 advanced eruption of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0006288
22 thick nail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001805
23 abnormality of the abdominal wall 59 32 hallmark (90%) Very frequent (99-80%) HP:0004298
24 high palate 32 HP:0000218
25 global developmental delay 32 HP:0001263
26 abnormality of the dentition 59 Very frequent (99-80%)
27 hypoglycemia 32 HP:0001943
28 hyperinsulinemia 32 HP:0000842
29 thickened skin 59 Frequent (79-30%)
30 postprandial hyperglycemia 32 HP:0011998
31 insulin-resistant diabetes mellitus 32 HP:0000831
32 small for gestational age 32 HP:0001518
33 hyperglycemia 32 HP:0003074
34 clitoral hypertrophy 32 HP:0008665
35 hypertrichosis 32 HP:0000998
36 fasting hypoglycemia 32 HP:0003162
37 onychauxis 32 HP:0012542
38 diabetic ketoacidosis 32 HP:0001953

UMLS symptoms related to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities:


dry skin

MGI Mouse Phenotypes related to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.62 IGFBP3 INS INSR IGF1
2 cardiovascular system MP:0005385 9.56 IGF1 IGFBP3 INS INSR
3 endocrine/exocrine gland MP:0005379 9.46 IGF1 IGFBP3 INS INSR
4 muscle MP:0005369 9.26 IGF1 IGFBP3 INS INSR
5 renal/urinary system MP:0005367 8.92 IGF1 IGFBP3 INS INSR
Sources

Drugs & Therapeutics for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and...

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Drugs for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 insulin Phase 2
2 Hypoglycemic Agents Phase 2
3 Insulin, Globin Zinc Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Leptin to Treat Severe Insulin Resistance - Pilot Study Completed NCT00027456 Phase 2 Leptin A-100

Search NIH Clinical Center for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities

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Genetic Tests for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and...

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Genetic tests related to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities:

# Genetic test Affiliating Genes
1 Pineal Hyperplasia and Diabetes Mellitus Syndrome 29 INSR
Sources

Anatomical Context for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and...

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MalaCards organs/tissues related to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities:

41
Pineal, Skin, Liver, Pancreas, Ovary, Tongue, Thyroid
Sources

Publications for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and...

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Articles related to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities:

(show all 32)
# Title Authors Year
1
A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome. ( 26691667 )
2016
2
Rabson Mendenhall Syndrome caused by a novel missense mutation. ( 27891155 )
2016
3
Treatment of Diabetic Ketoacidosis With Intravenous U-500 Insulin in a Patient With Rabson-Mendenhall Syndrome: A Case Report. ( 27112737 )
2016
4
Identification of a Novel Homozygous INSR Variant in a Patient with Rabson-Mendenhall Syndrome from the United Arab Emirates. ( 27326825 )
2016
5
Rabson-mendenhall syndrome. ( 25484423 )
2014
6
Renal manifestations of severe Rabson-Mendenhall syndrome: a case report. ( 23497647 )
2013
7
Rabson-Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation. ( 23347304 )
2013
8
Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence. ( 22563226 )
2012
9
A case of Rabson-Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidney. ( 22876563 )
2012
10
Rabson-Mendenhall syndrome. ( 23263437 )
2012
11
Functional characterization of insulin receptor gene mutations contributing to Rabson-Mendenhall syndrome - phenotypic heterogeneity of insulin receptor gene mutations. ( 21869538 )
2011
12
Multidrug therapy in a patient with Rabson-Mendenhall syndrome. ( 20711714 )
2010
13
Rabson-Mendenhall syndrome: two case reports and a brief review of the literature. ( 20155514 )
2010
14
Long survival in Rabson-Mendenhall syndrome. ( 20627358 )
2010
15
Fibroepithelial papillomatosis ("skin tags") in Rabson-Mendenhall syndrome. ( 18405695 )
2008
16
Rabson-Mendenhall syndrome. ( 18717867 )
2008
17
Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome. ( 18411068 )
2008
18
Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome. ( 17201797 )
2007
19
Rabson-Mendenhall syndrome: medullary sponge kidney, a new component. ( 17849153 )
2007
20
Rabson-Mendenhall syndrome. ( 15738613 )
2005
21
Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. ( 15232309 )
2004
22
Efficacy of recombinant methionyl human leptin therapy for the extreme insulin resistance of the Rabson-Mendenhall syndrome. ( 15070911 )
2004
23
What syndrome is this? Rabson-Mendenhall syndrome. ( 12047650 )
2002
24
Decreased half-life of insulin-like growth factor I in Rabson-Mendenhall syndrome. ( 11757582 )
2001
25
Defective insulin receptors in Rabson-Mendenhall syndrome cause complete peripheral insulin resistance but minimal hepatic insulin response remains. ( 15016231 )
2000
26
Progressive decline in insulin levels in Rabson-Mendenhall syndrome. ( 10443650 )
1999
27
Major circadian variations of glucose homeostasis in a patient with Rabson-Mendenhall syndrome and primary insulin resistance due to a mutation (Cys284-->Tyr) in the insulin receptor alpha-subunit. ( 9212040 )
1997
28
[Rabson-Mendenhall syndrome]. ( 7983791 )
1994
29
Impaired growth in Rabson-Mendenhall syndrome: lack of effect of growth hormone and insulin-like growth factor-I. ( 8077364 )
1994
30
An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndrome. ( 8270132 )
1993
31
Insulin-receptor biosynthesis in cultured lymphocytes from an insulin-resistant patient (Rabson-Mendenhall syndrome). Evidence for defect before insertion of receptor into plasma membrane. ( 3721065 )
1986
32
Decreased insulin binding to cultured cells from a patient with the Rabson-Mendenhall syndrome: dichotomy between studies with cultured lymphocytes and cultured fibroblasts. ( 6339538 )
1983
Sources

Variations for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and...

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UniProtKB/Swiss-Prot genetic disease variations for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities:

75 (show all 14)
# Symbol AA change Variation ID SNP ID
1 INSR p.Asn42Lys VAR_004079 rs121913143
2 INSR p.His236Arg VAR_004084 rs121913145
3 INSR p.Ser350Leu VAR_015914
4 INSR p.Pro997Thr VAR_015921
5 INSR p.Ile1143Thr VAR_015926
6 INSR p.Arg1158Trp VAR_015928 rs111993466
7 INSR p.Arg1201Trp VAR_015930
8 INSR p.Gly386Ser VAR_031520 rs764221583
9 INSR p.Arg256Cys VAR_079536 rs781007453
10 INSR p.Ser635Leu VAR_079539
11 INSR p.Ser835Ile VAR_079543
12 INSR p.Ala842Val VAR_079544
13 INSR p.Pro874Leu VAR_079545
14 INSR p.Asn878Ser VAR_079546 rs887190835

ClinVar genetic disease variations for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities:

6
(show top 50) (show all 329)
# Gene Variation Type Significance SNP ID Assembly Location
1 INSR NM_000208.3(INSR): c.126C> A (p.Asn42Lys) single nucleotide variant Pathogenic rs121913143 GRCh37 Chromosome 19, 7267882: 7267882
2 INSR NM_000208.3(INSR): c.126C> A (p.Asn42Lys) single nucleotide variant Pathogenic rs121913143 GRCh38 Chromosome 19, 7267871: 7267871
3 INSR NM_000208.3(INSR): c.3079C> T (p.Arg1027Ter) single nucleotide variant Pathogenic rs121913144 GRCh37 Chromosome 19, 7125473: 7125473
4 INSR NM_000208.3(INSR): c.3079C> T (p.Arg1027Ter) single nucleotide variant Pathogenic rs121913144 GRCh38 Chromosome 19, 7125462: 7125462
5 INSR NM_000208.3(INSR): c.1124-2A> G single nucleotide variant Pathogenic rs587776819 GRCh38 Chromosome 19, 7172436: 7172436
6 INSR NM_000208.3(INSR): c.1124-2A> G single nucleotide variant Pathogenic rs587776819 GRCh37 Chromosome 19, 7172447: 7172447
7 INSR NM_000208.3(INSR): c.2480_2487delAGGACACC (p.Gln827Profs) deletion Pathogenic rs587776820 GRCh38 Chromosome 19, 7142871: 7142878
8 INSR NM_000208.3(INSR): c.2480_2487delAGGACACC (p.Gln827Profs) deletion Pathogenic rs587776820 GRCh37 Chromosome 19, 7142882: 7142889
9 INSR NM_000208.3(INSR): c.5C> G (p.Ala2Gly) single nucleotide variant Benign rs7508518 GRCh37 Chromosome 19, 7293898: 7293898
10 INSR NM_000208.3(INSR): c.5C> G (p.Ala2Gly) single nucleotide variant Benign rs7508518 GRCh38 Chromosome 19, 7293887: 7293887
11 INSR NM_000208.3(INSR): c.2193G> A (p.Thr731=) single nucleotide variant Likely benign rs6413501 GRCh37 Chromosome 19, 7152775: 7152775
12 INSR NM_000208.3(INSR): c.2193G> A (p.Thr731=) single nucleotide variant Likely benign rs6413501 GRCh38 Chromosome 19, 7152764: 7152764
13 INSR NM_000208.3(INSR): c.3255C> T (p.His1085=) single nucleotide variant Benign rs1799817 GRCh37 Chromosome 19, 7125297: 7125297
14 INSR NM_000208.3(INSR): c.3255C> T (p.His1085=) single nucleotide variant Benign rs1799817 GRCh38 Chromosome 19, 7125286: 7125286
15 INSR NM_000208.3(INSR): c.3193C> G (p.Leu1065Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56395521 GRCh37 Chromosome 19, 7125359: 7125359
16 INSR NM_000208.3(INSR): c.3193C> G (p.Leu1065Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56395521 GRCh38 Chromosome 19, 7125348: 7125348
17 INSR NM_000208.3(INSR): c.190T> C (p.Leu64=) single nucleotide variant Conflicting interpretations of pathogenicity rs144836032 GRCh37 Chromosome 19, 7267818: 7267818
18 INSR NM_000208.3(INSR): c.190T> C (p.Leu64=) single nucleotide variant Conflicting interpretations of pathogenicity rs144836032 GRCh38 Chromosome 19, 7267807: 7267807
19 INSR NM_000208.3(INSR): c.1650G> A (p.Ala550=) single nucleotide variant Benign rs2059806 GRCh37 Chromosome 19, 7166376: 7166376
20 INSR NM_000208.3(INSR): c.1650G> A (p.Ala550=) single nucleotide variant Benign rs2059806 GRCh38 Chromosome 19, 7166365: 7166365
21 INSR NM_000208.3(INSR): c.394G> A (p.Gly132Ser) single nucleotide variant Pathogenic rs886037750 GRCh37 Chromosome 19, 7267614: 7267614
22 INSR NM_000208.3(INSR): c.394G> A (p.Gly132Ser) single nucleotide variant Pathogenic rs886037750 GRCh38 Chromosome 19, 7267603: 7267603
23 INSR NM_000208.3(INSR): c.2838C> G (p.Asp946Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146588336 GRCh38 Chromosome 19, 7132162: 7132162
24 INSR NM_000208.3(INSR): c.2838C> G (p.Asp946Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146588336 GRCh37 Chromosome 19, 7132173: 7132173
25 INSR NM_000208.3(INSR): c.2243C> T (p.Ser748Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs143523271 GRCh37 Chromosome 19, 7150532: 7150532
26 INSR NM_000208.3(INSR): c.2243C> T (p.Ser748Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs143523271 GRCh38 Chromosome 19, 7150521: 7150521
27 INSR NM_000208.3(INSR): c.1080C> T (p.Cys360=) single nucleotide variant Conflicting interpretations of pathogenicity rs56066516 GRCh38 Chromosome 19, 7174626: 7174626
28 INSR NM_000208.3(INSR): c.1080C> T (p.Cys360=) single nucleotide variant Conflicting interpretations of pathogenicity rs56066516 GRCh37 Chromosome 19, 7174637: 7174637
29 INSR NM_000208.3(INSR): c.687C> T (p.Thr229=) single nucleotide variant Likely benign rs150568177 GRCh38 Chromosome 19, 7184603: 7184603
30 INSR NM_000208.3(INSR): c.687C> T (p.Thr229=) single nucleotide variant Likely benign rs150568177 GRCh37 Chromosome 19, 7184614: 7184614
31 INSR NM_000208.3(INSR): c.653-5_653-4dupTC duplication Benign rs780601620 GRCh37 Chromosome 19, 7184652: 7184653
32 INSR NM_000208.3(INSR): c.653-5_653-4dupTC duplication Benign rs780601620 GRCh38 Chromosome 19, 7184641: 7184642
33 INSR NM_000208.3(INSR): c.41T> C (p.Leu14Pro) single nucleotide variant Uncertain significance rs745857330 GRCh37 Chromosome 19, 7293862: 7293862
34 INSR NM_000208.3(INSR): c.41T> C (p.Leu14Pro) single nucleotide variant Uncertain significance rs745857330 GRCh38 Chromosome 19, 7293851: 7293851
35 INSR NM_000208.3(INSR): c.*4794T> C single nucleotide variant Benign rs10415841 GRCh37 Chromosome 19, 7112273: 7112273
36 INSR NM_000208.3(INSR): c.*4794T> C single nucleotide variant Benign rs10415841 GRCh38 Chromosome 19, 7112262: 7112262
37 INSR NM_000208.3(INSR): c.*4760G> A single nucleotide variant Likely benign rs574836227 GRCh37 Chromosome 19, 7112307: 7112307
38 INSR NM_000208.3(INSR): c.*4760G> A single nucleotide variant Likely benign rs574836227 GRCh38 Chromosome 19, 7112296: 7112296
39 INSR NM_000208.3(INSR): c.*4474C> T single nucleotide variant Benign rs1052371 GRCh38 Chromosome 19, 7112582: 7112582
40 INSR NM_000208.3(INSR): c.*4474C> T single nucleotide variant Benign rs1052371 GRCh37 Chromosome 19, 7112593: 7112593
41 INSR NM_000208.3(INSR): c.*4422G> T single nucleotide variant Benign rs12642 GRCh38 Chromosome 19, 7112634: 7112634
42 INSR NM_000208.3(INSR): c.*4422G> T single nucleotide variant Benign rs12642 GRCh37 Chromosome 19, 7112645: 7112645
43 INSR NM_000208.3(INSR): c.*4379C> T single nucleotide variant Uncertain significance rs886054659 GRCh38 Chromosome 19, 7112677: 7112677
44 INSR NM_000208.3(INSR): c.*4379C> T single nucleotide variant Uncertain significance rs886054659 GRCh37 Chromosome 19, 7112688: 7112688
45 INSR NM_000208.3(INSR): c.*4374G> A single nucleotide variant Uncertain significance rs886054660 GRCh38 Chromosome 19, 7112682: 7112682
46 INSR NM_000208.3(INSR): c.*4374G> A single nucleotide variant Uncertain significance rs886054660 GRCh37 Chromosome 19, 7112693: 7112693
47 INSR NM_000208.3(INSR): c.*3877T> C single nucleotide variant Likely benign rs148660410 GRCh38 Chromosome 19, 7113179: 7113179
48 INSR NM_000208.3(INSR): c.*3877T> C single nucleotide variant Likely benign rs148660410 GRCh37 Chromosome 19, 7113190: 7113190
49 INSR NM_000208.3(INSR): c.*3693G> A single nucleotide variant Uncertain significance rs886054662 GRCh38 Chromosome 19, 7113363: 7113363
50 INSR NM_000208.3(INSR): c.*3693G> A single nucleotide variant Uncertain significance rs886054662 GRCh37 Chromosome 19, 7113374: 7113374
Sources

Expression for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and...

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Search GEO for disease gene expression data for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities.
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Pathways for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and...

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Pathways related to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 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

Pathways related to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities according to GeneCards Suite gene sharing:

(show all 31)
# Super pathways Score Top Affiliating Genes
1
p70S6K Signaling 64
Show member pathways
 12.68 IGF1 INS INSR
2
PI3K-Akt signaling pathway 37
Show member pathways
 12.61 IGF1 INS INSR
3
MAPK signaling pathway 1 37
12.42 IGF1 INS INSR
4
Regulation of lipid metabolism Insulin signaling-generic cascades 22
Show member pathways
 12.39 IGF1 IGFBP3 INS INSR
5
Ras signaling pathway 37
Show member pathways
 12.37 IGF1 INS INSR
6
Glucose / Energy Metabolism 4
12.16 IGFBP3 INS INSR
7
mTOR signaling pathway (KEGG) 65
Show member pathways
 12.12 IGF1 INS INSR
8
AMP-activated Protein Kinase (AMPK) Signaling 1
Show member pathways
 12.05 IGF1 INS INSR
9
Autophagy Pathway 65
Show member pathways
 11.83 INS INSR
10
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.77 IGF1 INS
11
Adipogenesis 1
11.76 IGF1 INS
12
Longevity regulating pathway 37
Show member pathways
 11.76 IGF1 INS INSR
13
Development IGF-1 receptor signaling 22
Show member pathways
 11.74 IGF1 IGFBP3
14
Hepatic ABC Transporters 64
Show member pathways
 11.73 INS INSR
15
FoxO signaling pathway 37
Show member pathways
 11.68 IGF1 INS INSR
16
Insulin resistance 37
Show member pathways
 11.67 INS INSR
17
Type II diabetes mellitus 37 1
Show member pathways
 11.59 INS INSR
18
Senescence and Autophagy in Cancer 1
11.46 IGF1 IGFBP3 INS
19
AGE/RAGE pathway 1
11.42 INS INSR
20
HIF-1 signaling pathway 37
11.33 IGF1 INS INSR
21
Regulation of lipolysis in adipocytes 37
11.32 INS INSR
22
Cardiac Progenitor Differentiation 1
11.31 IGF1 INS
23
Signaling events mediated by PTP1B 1
11.27 INS INSR
24
Differentiation Pathway 1
11.24 IGF1 INS
25
Insulin Pathway 1
11.17 INS INSR
26
Signaling events mediated by TCPTP 1
Show member pathways
 11.15 INS INSR
27
Transcription_Transcription factor Tubby signaling pathways 22
11.03 INS INSR
28
Insulin-mediated glucose transport 1
10.97 INS INSR
29
Ovarian steroidogenesis 37
10.82 IGF1 INS INSR
30
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) 66
10.76 IGF1 IGFBP3
31
Aldosterone-regulated sodium reabsorption 37
10.37 IGF1 INS INSR
Sources

GO Terms for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and...

About this section

Cellular components related to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 insulin-like growth factor ternary complex GO:0042567 8.96 IGF1 IGFBP3
2 insulin-like growth factor binding protein complex GO:0016942 8.62 IGF1 IGFBP3

Biological processes related to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.76 IGF1 INS INSR
2 positive regulation of cell proliferation GO:0008284 9.74 IGF1 INS INSR
3 cellular protein metabolic process GO:0044267 9.71 IGF1 IGFBP3 INS
4 positive regulation of cell migration GO:0030335 9.7 IGF1 INS INSR
5 activation of MAPK activity GO:0000187 9.67 IGF1 INS INSR
6 negative regulation of signal transduction GO:0009968 9.62 IGFBP3 INSR
7 response to organic substance GO:0010033 9.62 IGF1 INS
8 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.61 IGF1 INS
9 insulin receptor signaling pathway GO:0008286 9.61 INS INSR
10 glucose homeostasis GO:0042593 9.61 IGF1 INS INSR
11 response to glucose GO:0009749 9.6 IGF1 INS
12 response to insulin GO:0032868 9.59 IGF1 INS
13 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.58 IGF1 INS
14 positive regulation of DNA replication GO:0045740 9.58 IGF1 INS INSR
15 response to nutrient levels GO:0031667 9.56 IGF1 INS
16 positive regulation of insulin receptor signaling pathway GO:0046628 9.55 IGF1 INS
17 activation of protein kinase B activity GO:0032148 9.54 IGF1 INS INSR
18 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.51 IGF1 IGFBP3
19 positive regulation of glucose import GO:0046326 9.5 IGF1 INS INSR
20 positive regulation of respiratory burst GO:0060267 9.48 INS INSR
21 neuron projection maintenance GO:1990535 9.46 INS INSR
22 positive regulation of mitotic nuclear division GO:0045840 9.43 IGF1 INS INSR
23 positive regulation of glycolytic process GO:0045821 9.33 IGF1 INS INSR
24 positive regulation of MAPK cascade GO:0043410 9.26 IGF1 IGFBP3 INS INSR
25 positive regulation of glycogen biosynthetic process GO:0045725 8.8 IGF1 INS INSR

Molecular functions related to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.37 IGF1 INS
2 insulin receptor binding GO:0005158 9.32 IGF1 INS
3 insulin-like growth factor I binding GO:0031994 9.26 IGFBP3 INSR
4 insulin-like growth factor II binding GO:0031995 9.16 IGFBP3 INSR
5 receptor activator activity GO:0030546 8.96 IGF1 INS
6 insulin-like growth factor receptor binding GO:0005159 8.8 IGF1 INS INSR
Sources

Sources for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and...

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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