RMS
MCID: PNL019
MIFTS: 56

Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities (RMS)

Categories: Endocrine diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and...

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

Name: Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 57 19 42
Rabson-Mendenhall Syndrome 57 19 42 58 75 73 12 53 38 71
Mendenhall Syndrome 57 19 42 73
Pineal Hyperplasia and Diabetes Mellitus Syndrome 42 28 5
Rms 42 73
Insr-Related Severe Syndromic Insulin Resistance 19
Donohue Syndrome 19
Leprechaunism 19

Characteristics:


Inheritance:

Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities: Autosomal recessive 57
Rabson-Mendenhall Syndrome: Autosomal recessive 58

Age Of Onset:

Rabson-Mendenhall Syndrome: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:

Orphanet: 58  
Rare skin diseases
Rare endocrine diseases


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

MedlinePlus Genetics: 42 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.Severe insulin resistance in people with Rabson-Mendenhall syndrome affects the development of many parts of the body. Affected individuals are unusually small starting before birth, and infants experience failure to thrive, which means they do not grow and gain weight at the expected rate. Additional features of the condition that become apparent early in life include a lack of fatty tissue under the skin (subcutaneous fat); wasting (atrophy) of muscles; dental abnormalities; excessive body hair growth (hirsutism); multiple cysts on the ovaries in females; and enlargement of the nipples, genitalia, kidneys, heart, and other organs. Most affected individuals also have a skin condition called acanthosis nigricans, in which the skin in body folds and creases becomes thick, dark, and velvety. Distinctive facial features in people with Rabson-Mendenhall syndrome include prominent, widely spaced eyes; a broad nose; and large, low-set ears.Rabson-Mendenhall syndrome is one of a group of related conditions described as inherited severe insulin resistance syndromes. These disorders, which also include Donohue syndrome and type A insulin resistance syndrome, are considered part of a spectrum. Rabson-Mendenhall syndrome is intermediate in severity between Donohue syndrome (which is usually fatal before age 2) and type A insulin resistance syndrome (which is often not diagnosed until adolescence). People with Rabson-Mendenhall syndrome develop signs and symptoms early in life and live into their teens or twenties. Death usually results from complications related to diabetes mellitus, such as a toxic buildup of acids called ketones in the body (diabetic ketoacidosis).

MalaCards based summary: Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities, also known as rabson-mendenhall syndrome, is related to donohue syndrome and rhabdomyosarcoma, 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 p70S6K Signaling and PI3K-Akt signaling pathway. Affiliated tissues include pineal, skin and pancreas, and related phenotypes are intellectual disability and global developmental delay

GARD: 19 Rabson-Mendenhall syndrome (RMS) is a mild form of INSR-related severe syndromic insulin resistance, an inherited disorder associated with the inability to regulate blood sugar. Insulin is a hormone produced by the pancreas that normally regulates blood sugar levels by promoting the movement of sugar (glucose) into cells for energy production or into the liver and fat cells for storage. Symptoms of RMS include poor growth before and after birth, hairiness, muscle wasting (hypertrophy), coarse facial features, abnormalities of the teeth and nails, and a skin abnormality known as acanthosis nigricans. In addition, people with RMS have excess blood insulin levels and irregular sugar (glucose) levels. Some people with RMS have developmental and intellectual disabilities. Over time, people with RMS can have organ damage due to unregulated blood sugar. This disorder is diagnosed based on the signs and symptoms, laboratory testing, and genetic testing of the INSR gene. RMS is caused by a genetic change in the INSR gene and is inherited in an autosomal recessive manner. Donohue syndrome (leprechaunism) is a more severe form of INSR-related syndromic insulin resistance. Symptoms are similar to those seen in RMS but are more serious. Type A insulin resistance syndrome (type A) is a milder form of INSR-related syndromic insulin resistance.

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A rare syndrome that belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes).

Wikipedia: 75 Rabson-Mendenhall syndrome is a rare autosomal recessive disorder characterized by severe insulin... more...

More information from OMIM: 262190

Related Diseases for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and...

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 258)
# Related Disease Score Top Affiliating Genes
1 donohue syndrome 32.2 INSR INS IGF1
2 rhabdomyosarcoma 31.0 INS IGFBP3 IGF1
3 hypertrichosis 30.4 INSR INS
4 hyperinsulinemic hypoglycemia 29.9 INSR INS
5 gestational diabetes 29.8 INSR INS IGF1
6 acanthosis nigricans 29.7 INSR INS IGF1
7 skin tag 29.7 INS IGFBP3 IGF1
8 microvascular complications of diabetes 5 29.7 INS IGF1
9 hyperinsulinism 29.5 INSR INS IGFBP3 IGF1
10 glucose intolerance 29.5 INSR INS IGF1
11 patent ductus arteriosus 1 29.5 INS IGF1
12 hypoglycemia 29.5 INSR INS IGFBP3 IGF1
13 insulin-like growth factor i 29.5 INSR INS IGFBP3 IGF1
14 hyperglycemia 29.5 INSR INS IGF1
15 adult syndrome 29.5 INS IGF1
16 microvascular complications of diabetes 1 29.3 INS IGFBP3 IGF1
17 marasmus 29.1 INS IGFBP3 IGF1
18 hyperandrogenism 29.1 INSR INS IGFBP3 IGF1
19 type 2 diabetes mellitus 29.0 INSR INS IGFBP3 IGF1
20 polycystic ovary syndrome 28.9 INSR INS IGFBP3 IGF1
21 patterson pseudoleprechaunism syndrome 11.0
22 diabetes mellitus, insulin-resistant, with acanthosis nigricans 11.0
23 large cell carcinoma with rhabdoid phenotype 11.0
24 medullary sponge kidney 10.4
25 hypertrophic cardiomyopathy 10.4
26 embryonal rhabdomyosarcoma 10.4
27 nephrolithiasis, calcium oxalate 10.4
28 hydronephrosis 10.4
29 cardiomyopathy, familial hypertrophic, 1 10.3
30 insr-related severe syndromic insulin resistance 10.3
31 soft tissue sarcoma 10.3
32 rhabdomyosarcoma 2 10.3
33 hypotonia 10.3
34 sarcoma 10.2
35 diabetes mellitus, ketosis-prone 10.2
36 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.2
37 fissured tongue 10.2
38 bartter disease 10.2
39 nephrolithiasis 10.2
40 precocious puberty 10.2
41 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 10.2
42 progressive relapsing multiple sclerosis 10.1
43 cutis laxa 10.1
44 gingival overgrowth 10.1
45 muscular atrophy 10.1
46 growth hormone deficiency 10.1
47 overgrowth syndrome 10.1
48 down syndrome 10.1
49 multiple sclerosis 10.0
50 hemangiopericytoma, malignant 10.0

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

Symptoms & Phenotypes for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and...

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

58 30 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Frequent (33%) Frequent (79-30%)
HP:0001249
2 global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001263
3 short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0004322
4 dry skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0000958
5 intrauterine growth retardation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001511
6 dental crowding 58 30 Frequent (33%) Frequent (79-30%)
HP:0000678
7 acanthosis nigricans 58 30 Frequent (33%) Frequent (79-30%)
HP:0000956
8 severe postnatal growth retardation 58 30 Frequent (33%) Frequent (79-30%)
HP:0008850
9 long penis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000040
10 recurrent infections 58 30 Frequent (33%) Frequent (79-30%)
HP:0002719
11 thick hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0100874
12 hirsutism 58 30 Frequent (33%) Frequent (79-30%)
HP:0001007
13 hypertrichosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000998
14 clitoral hypertrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0008665
15 increased serum testosterone level 58 30 Frequent (33%) Frequent (79-30%)
HP:0030088
16 postprandial hyperglycemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0011998
17 insulin-resistant diabetes mellitus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000831
18 fasting hyperinsulinemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008283
19 reduced subcutaneous adipose tissue 58 30 Frequent (33%) Frequent (79-30%)
HP:0003758
20 fasting hypoglycemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0003162
21 enlarged ovaries 58 30 Frequent (33%) Frequent (79-30%)
HP:0100879
22 increased c-peptide level 58 30 Frequent (33%) Frequent (79-30%)
HP:0030796
23 onychauxis 58 30 Frequent (33%) Frequent (79-30%)
HP:0012542
24 lichenoid skin lesion 58 30 Frequent (33%) Frequent (79-30%)
HP:0031452
25 high palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000218
26 hypothyroidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000821
27 precocious puberty 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000826
28 macroglossia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000158
29 coarse facial features 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000280
30 delayed skeletal maturation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002750
31 gingival overgrowth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000212
32 macrotia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000400
33 mandibular prognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000303
34 anteverted nares 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000463
35 polydipsia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001959
36 hypokalemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002900
37 retinopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000488
38 atrial septal defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001631
39 premature graying of hair 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002216
40 nephrocalcinosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000121
41 low anterior hairline 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000294
42 prominent nasal bridge 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000426
43 ventricular septal defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001629
44 peripheral neuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009830
45 furrowed tongue 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000221
46 wide nose 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000445
47 advanced eruption of teeth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006288
48 cardiomyopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001638
49 polydactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010442
50 impaired glucose tolerance 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0040270

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Endocrine Features:
precocious puberty
diabetic ketoacidosis
insulin resistant diabetes mellitus
altered melatonin secretion

Skin Nails Hair Skin:
dry skin
acanthosis nigricans
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 (Updated 08-Dec-2022)

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.46 IGF1 IGFBP3 INS INSR
2 adipose tissue MP:0005375 9.26 IGF1 IGFBP3 INS INSR
3 endocrine/exocrine gland MP:0005379 8.92 IGF1 IGFBP3 INS INSR

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

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

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

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

# Genetic test Affiliating Genes
1 Pineal Hyperplasia and Diabetes Mellitus Syndrome 28 INSR

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

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

MalaCards : Pineal, Skin, Pancreas, Liver, Heart, Tongue, Pancreatic Islet

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

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

(show top 50) (show all 352)
# Title Authors PMID Year
1
Two aberrant splicings caused by mutations in the insulin receptor gene in cultured lymphocytes from a patient with Rabson-Mendenhall's syndrome. 53 57 5
9449692 1998
2
Insulin-receptor biosynthesis in cultured lymphocytes from an insulin-resistant patient (Rabson-Mendenhall syndrome). Evidence for defect before insertion of receptor into plasma membrane. 62 57 5
3721065 1986
3
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. 57 5
2121734 1990
4
Efficacy of recombinant methionyl human leptin therapy for the extreme insulin resistance of the Rabson-Mendenhall syndrome. 53 62 57
15070911 2004
5
One Novel 2.43Kb Deletion and One Single Nucleotide Mutation of the INSR Gene in a Chinese Neonate with Rabson-Mendenhall Syndrome 62 5
29082893 2018
6
Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 62 5
28765322 2017
7
A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome. 62 5
26691667 2016
8
Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. 62 5
27896077 2014
9
Acute response to recombinant insulin-like growth factor I in a patient with Mendenhall's syndrome. 53 5
2233914 1990
10
Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. 62 5
2365819 1990
11
A primary defect in insulin receptor in a young male patient with insulin resistance. 62 57
3020345 1986
12
Decreased insulin binding to cultured cells from a patient with the Rabson-Mendenhall syndrome: dichotomy between studies with cultured lymphocytes and cultured fibroblasts. 62 57
6339538 1983
13
Brief report: melatonin-related hypogonadotropic hypogonadism. 57
1406837 1992
14
Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene alleles. 5
2002058 1991
15
Episodic nyctohemeral secretion of melatonin in adult humans: lack of relation with LH pulsatile pattern. 57
2305607 1990
16
A mutation in the insulin receptor gene that impairs transport of the receptor to the plasma membrane and causes insulin-resistant diabetes. 57
2573522 1989
17
Melatonin state in Mendenhall's syndrome. 57
3415309 1988
18
Light suppresses melatonin secretion in humans. 57
7434030 1980
19
Familial insulin resistance with pineal hyperplasia: metabolic studies and effect of hypophysectomy. 57
7002061 1980
20
Familial insulin-resistant diabetes, multiple somatic anomalies, and pineal hyperplasia. 57
1190820 1975
21
Insulin resistance, skin changes, and virilization: a recessively inherited syndrome possibly due to pineal gland dysfunction. 57
4413914 1974
22
Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus; report of 3 cases. 57
13302174 1956
23
Rabson-Mendenhall syndrome: two case reports and a brief review of the literature. 53 62
20155514 2010
24
Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome. 53 62
18411068 2008
25
Rabson-Mendenhall syndrome: medullary sponge kidney, a new component. 53 62
17849153 2007
26
Severe deficiencies of IGF-I, IGF-II, IGFBP-3, ALS and paradoxically high-normal bone mass in a child with insulin-resistance syndrome (Rabson-Mendenhall type). 53 62
17560154 2007
27
IGF-I treatment of insulin resistance. 53 62
17785698 2007
28
Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome. 53 62
17201797 2007
29
A nonsense mutation in the Arg345 of the insulin receptor gene in a Japanese type A insulin-resistant patient. 53 62
16127220 2005
30
Clinical evidence that hyperinsulinaemia independent of gonadotropins stimulates ovarian growth. 53 62
15963065 2005
31
Pharmacological regulation of the insulin receptor signaling pathway mimics insulin action in cells transduced with viral vectors. 53 62
15610610 2004
32
Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. 53 62
15232309 2004
33
Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. 53 62
12970295 2003
34
Genotype-phenotype correlation in inherited severe insulin resistance. 53 62
12023989 2002
35
Decreased half-life of insulin-like growth factor I in Rabson-Mendenhall syndrome. 53 62
11757582 2001
36
Defective insulin receptors in Rabson-Mendenhall syndrome cause complete peripheral insulin resistance but minimal hepatic insulin response remains. 53 62
15016231 2000
37
Progressive decline in insulin levels in Rabson-Mendenhall syndrome. 53 62
10443650 1999
38
[Syndromes of severe insulin resistance]. 53 62
10199143 1999
39
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. 53 62
9212040 1997
40
Functional activation of mutant human insulin receptor by monoclonal antibody. 53 62
8667867 1996
41
Mutant insulin receptors in syndromes of insulin resistance. 53 62
8734453 1996
42
Insulin receptor disorders in Japan. 53 62
7859597 1994
43
Impaired growth in Rabson-Mendenhall syndrome: lack of effect of growth hormone and insulin-like growth factor-I. 53 62
8077364 1994
44
The effect of recombinant insulin-like growth factor I on ketone body, lipid and apolipoprotein concentrations and its use to treat ketoacidosis in severe insulin resistance. 53 62
7955979 1994
45
[Insulin receptor and diabetes]. 53 62
7939336 1994
46
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. 53 62
8270132 1993
47
Diabetes secondary to genetic disorders. 53 62
1445174 1992
48
Management challenges of Rabson Mendenhall syndrome in a resource limited country: a case report. 62
36106528 2022
49
Incomplete phenotypic presentation in a girl with rare Rabson-Mendenhall syndrome. 62
36331627 2022
50
SGLT2i Improves Glycemic Control in Patients With Congenital Severe Insulin Resistance. 62
35652305 2022

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

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

5 (show top 50) (show all 254)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 INSR NM_000208.4(INSR):c.1124-2A>G SNV Pathogenic
14712 rs587776819 GRCh37: 19:7172447-7172447
GRCh38: 19:7172436-7172436
2 INSR NM_000208.4(INSR):c.2480_2487del (p.Gln827fs) DEL Pathogenic
14713 rs587776820 GRCh37: 19:7142882-7142889
GRCh38: 19:7142871-7142878
3 INSR NM_000208.4(INSR):c.394G>A (p.Gly132Ser) SNV Pathogenic
208852 rs886037750 GRCh37: 19:7267614-7267614
GRCh38: 19:7267603-7267603
4 INSR NM_000208.4(INSR):c.3079C>T (p.Arg1027Ter) SNV Pathogenic
14692 rs121913144 GRCh37: 19:7125473-7125473
GRCh38: 19:7125462-7125462
5 INSR NM_000208.4(INSR):c.126C>A (p.Asn42Lys) SNV Pathogenic
14691 rs121913143 GRCh37: 19:7267882-7267882
GRCh38: 19:7267871-7267871
6 INSR NM_000208.4(INSR):c.2997T>G (p.Tyr999Ter) SNV Pathogenic
377383 rs1135401740 GRCh37: 19:7126611-7126611
GRCh38: 19:7126600-7126600
7 INSR NM_000208.4(INSR):c.2525C>T (p.Ala842Val) SNV Pathogenic
377382 rs1135401738 GRCh37: 19:7142844-7142844
GRCh38: 19:7142833-7142833
8 INSR NM_000208.4(INSR):c.2030_2267+1del DEL Pathogenic
430587 GRCh37: 19:7150507-7152938
GRCh38: 19:7150496-7152927
9 INSR NM_000208.4(INSR):c.2665C>T (p.Arg889Trp) SNV Uncertain Significance
282255 rs76077021 GRCh37: 19:7141705-7141705
GRCh38: 19:7141694-7141694
10 INSR NM_000208.4(INSR):c.2498G>A (p.Arg833Gln) SNV Uncertain Significance
502299 rs777565396 GRCh37: 19:7142871-7142871
GRCh38: 19:7142860-7142860
11 INSR NM_000208.4(INSR):c.*2568G>A SNV Uncertain Significance
892570 rs973027799 GRCh37: 19:7114499-7114499
GRCh38: 19:7114488-7114488
12 INSR NM_000208.4(INSR):c.*1831C>T SNV Uncertain Significance
892636 rs111750247 GRCh37: 19:7115236-7115236
GRCh38: 19:7115225-7115225
13 INSR NM_000208.4(INSR):c.*1831C>A SNV Uncertain Significance
892637 rs111750247 GRCh37: 19:7115236-7115236
GRCh38: 19:7115225-7115225
14 INSR NM_000208.4(INSR):c.*959A>G SNV Uncertain Significance
892709 rs988651664 GRCh37: 19:7116108-7116108
GRCh38: 19:7116097-7116097
15 INSR NM_000208.4(INSR):c.*241G>A SNV Uncertain Significance
892737 rs369919269 GRCh37: 19:7116826-7116826
GRCh38: 19:7116815-7116815
16 INSR NM_000208.4(INSR):c.4133G>C (p.Arg1378Pro) SNV Uncertain Significance
892767 rs52826008 GRCh37: 19:7117083-7117083
GRCh38: 19:7117072-7117072
17 INSR NM_000208.4(INSR):c.2602C>T (p.His868Tyr) SNV Uncertain Significance
892863 rs370120425 GRCh37: 19:7141768-7141768
GRCh38: 19:7141757-7141757
18 INSR NM_000208.4(INSR):c.2596G>A (p.Val866Ile) SNV Uncertain Significance
892864 rs200110540 GRCh37: 19:7141774-7141774
GRCh38: 19:7141763-7141763
19 INSR NM_000208.4(INSR):c.2380G>A (p.Glu794Lys) SNV Uncertain Significance
892904 rs376600434 GRCh37: 19:7142989-7142989
GRCh38: 19:7142978-7142978
20 INSR NM_000208.4(INSR):c.2121C>T (p.Gly707=) SNV Uncertain Significance
892937 rs753257847 GRCh37: 19:7152847-7152847
GRCh38: 19:7152836-7152836
21 INSR NM_000208.4(INSR):c.*4712T>C SNV Uncertain Significance
893022 rs147343062 GRCh37: 19:7112355-7112355
GRCh38: 19:7112344-7112344
22 INSR NM_000208.4(INSR):c.783C>G (p.Asp261Glu) SNV Uncertain Significance
893023 rs891087 GRCh37: 19:7184518-7184518
GRCh38: 19:7184507-7184507
23 INSR NM_000208.4(INSR):c.261C>T (p.Tyr87=) SNV Uncertain Significance
893064 rs145884847 GRCh37: 19:7267747-7267747
GRCh38: 19:7267736-7267736
24 INSR NM_000208.4(INSR):c.*3019C>A SNV Uncertain Significance
893140 rs1037171690 GRCh37: 19:7114048-7114048
GRCh38: 19:7114037-7114037
25 INSR NM_000208.4(INSR):c.1988C>T (p.Ala663Val) SNV Uncertain Significance
893170 rs201034510 GRCh37: 19:7163084-7163084
GRCh38: 19:7163073-7163073
26 INSR NM_000208.4(INSR):c.1305A>G (p.Leu435=) SNV Uncertain Significance
892977 rs1463291322 GRCh37: 19:7170726-7170726
GRCh38: 19:7170715-7170715
27 INSR NM_000208.4(INSR):c.*4696T>C SNV Uncertain Significance
893241 rs546415055 GRCh37: 19:7112371-7112371
GRCh38: 19:7112360-7112360
28 INSR NM_000208.4(INSR):c.221G>A (p.Arg74Gln) SNV Uncertain Significance
893272 rs766295952 GRCh37: 19:7267787-7267787
GRCh38: 19:7267776-7267776
29 INSR NM_000208.4(INSR):c.*3013C>G SNV Uncertain Significance
893141 rs533582304 GRCh37: 19:7114054-7114054
GRCh38: 19:7114043-7114043
30 INSR NM_000208.4(INSR):c.*2102T>C SNV Uncertain Significance
893409 rs1972287724 GRCh37: 19:7114965-7114965
GRCh38: 19:7114954-7114954
31 INSR NM_000208.4(INSR):c.*2023A>G SNV Uncertain Significance
893410 rs754015320 GRCh37: 19:7115044-7115044
GRCh38: 19:7115033-7115033
32 INSR NM_000208.4(INSR):c.*1591C>T SNV Uncertain Significance
893439 rs545450279 GRCh37: 19:7115476-7115476
GRCh38: 19:7115465-7115465
33 INSR NM_000208.4(INSR):c.*1584C>G SNV Uncertain Significance
893440 rs535755401 GRCh37: 19:7115483-7115483
GRCh38: 19:7115472-7115472
34 INSR NM_000208.4(INSR):c.*1190A>G SNV Uncertain Significance
892670 rs1972310295 GRCh37: 19:7115877-7115877
GRCh38: 19:7115866-7115866
35 INSR NM_000208.4(INSR):c.*1137A>G SNV Uncertain Significance
893473 rs192753442 GRCh37: 19:7115930-7115930
GRCh38: 19:7115919-7115919
36 INSR NM_000208.4(INSR):c.*743A>G SNV Uncertain Significance
893504 rs1459964736 GRCh37: 19:7116324-7116324
GRCh38: 19:7116313-7116313
37 INSR NM_000208.4(INSR):c.*214G>A SNV Uncertain Significance
893531 rs1972340823 GRCh37: 19:7116853-7116853
GRCh38: 19:7116842-7116842
38 INSR NM_000208.4(INSR):c.*352_*355dup DUP Uncertain Significance
330428 rs71177157 GRCh37: 19:7116711-7116712
GRCh38: 19:7116700-7116701
39 INSR NM_000208.4(INSR):c.*3894G>A SNV Uncertain Significance
330357 rs184154294 GRCh37: 19:7113173-7113173
GRCh38: 19:7113162-7113162
40 INSR NM_000208.4(INSR):c.*2160G>T SNV Uncertain Significance
330392 rs570523460 GRCh37: 19:7114907-7114907
GRCh38: 19:7114896-7114896
41 INSR NM_000208.4(INSR):c.*289del DEL Uncertain Significance
330432 rs886054684 GRCh37: 19:7116778-7116778
GRCh38: 19:7116767-7116767
42 INSR NM_000208.4(INSR):c.*2464C>T SNV Uncertain Significance
330386 rs181555180 GRCh37: 19:7114603-7114603
GRCh38: 19:7114592-7114592
43 INSR NM_000208.4(INSR):c.*4374G>A SNV Uncertain Significance
330351 rs886054660 GRCh37: 19:7112693-7112693
GRCh38: 19:7112682-7112682
44 INSR NM_000208.4(INSR):c.*3010del DEL Uncertain Significance
330372 rs886054664 GRCh37: 19:7114057-7114057
GRCh38: 19:7114046-7114046
45 INSR NM_000208.4(INSR):c.2853G>A (p.Pro951=) SNV Uncertain Significance
330450 rs200564313 GRCh37: 19:7128955-7128955
GRCh38: 19:7128944-7128944
46 INSR NM_000208.4(INSR):c.*4349C>T SNV Uncertain Significance
330352 rs886054661 GRCh37: 19:7112718-7112718
GRCh38: 19:7112707-7112707
47 INSR NM_000208.4(INSR):c.*4736T>G SNV Uncertain Significance
330345 rs886054658 GRCh37: 19:7112331-7112331
GRCh38: 19:7112320-7112320
48 INSR NM_000208.4(INSR):c.*355_*356del DEL Uncertain Significance
330427 rs1491388964 GRCh37: 19:7116711-7116712
GRCh38: 19:7116700-7116701
49 INSR NM_000208.4(INSR):c.*356_*357del DEL Uncertain Significance
330426 rs1555733954 GRCh37: 19:7116710-7116711
GRCh38: 19:7116699-7116700
50 INSR NM_000208.4(INSR):c.3193C>G (p.Leu1065Val) SNV Uncertain Significance
194702 rs56395521 GRCh37: 19:7125359-7125359
GRCh38: 19:7125348-7125348

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

73 (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 rs1568426700
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 rs1135401739
12 INSR p.Ala842Val VAR_079544 rs1135401738
13 INSR p.Pro874Leu VAR_079545
14 INSR p.Asn878Ser VAR_079546 rs887190835

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

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

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

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

(show all 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.64 INSR INS IGF1
2
Show member pathways
12.56 INSR INS IGF1
3 12.46 INSR INS IGF1
4
Show member pathways
12.28 INSR INS IGF1
5 12.24 INSR INS IGF1
6 12.03 INSR INS IGFBP3
7
Show member pathways
11.79 INSR INS
8 11.77 INSR IGF1
9 11.74 INS IGF1
10 11.73 INS IGF1
11
Show member pathways
11.72 INSR INS
12
Show member pathways
11.69 INSR INS
13
Show member pathways
11.57 INSR INS IGFBP3 IGF1
14 11.35 INS IGFBP3 IGF1
15 11.28 INS IGF1
16 11.23 INS IGF1
17 11.2 INSR INS
18 11.19 INSR INS
19
Show member pathways
11.16 INS INSR
20 11.14 INSR INS
21 11.11 INS IGFBP3 IGF1
22 11.01 INSR INS
23
Show member pathways
10.88 INSR INS
24 10.85 INSR INS
25 10.66 INSR INS
26 10.54 INSR INS

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

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 9.26 IGFBP3 IGF1
2 insulin-like growth factor binding protein complex GO:0016942 8.92 IGFBP3 IGF1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell migration GO:0030335 9.99 INSR INS IGF1
2 positive regulation of protein kinase B signaling GO:0051897 9.93 INSR INS IGF1
3 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.88 INSR INS IGF1
4 positive regulation of glucose import GO:0046326 9.85 IGF1 INS INSR
5 insulin receptor signaling pathway GO:0008286 9.84 INSR INS
6 positive regulation of protein secretion GO:0050714 9.83 INS IGF1
7 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.8 IGFBP3 IGF1
8 positive regulation of mitotic nuclear division GO:0045840 9.8 INSR INS IGF1
9 neuron projection maintenance GO:1990535 9.78 INS INSR
10 positive regulation of MAPK cascade GO:0043410 9.76 INSR INS IGFBP3 IGF1
11 positive regulation of respiratory burst GO:0060267 9.73 INSR INS
12 activation of protein kinase B activity GO:0032148 9.73 INSR INS IGF1
13 positive regulation of glycolytic process GO:0045821 9.43 INSR INS IGF1
14 positive regulation of glycogen biosynthetic process GO:0045725 9.1 INSR INS IGF1

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 insulin receptor binding GO:0005158 9.56 INS IGF1
2 insulin-like growth factor I binding GO:0031994 9.46 INSR IGFBP3
3 insulin-like growth factor II binding GO:0031995 9.26 INSR IGFBP3
4 insulin-like growth factor receptor binding GO:0005159 9.1 INSR INS IGF1

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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