RMS
MCID: PNL019
MIFTS: 54

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

Categories: Endocrine diseases, Genetic diseases, Rare diseases, Skin diseases

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 20 43
Rabson-Mendenhall Syndrome 57 73 20 43 58 72 36 13 54 70
Mendenhall Syndrome 57 20 43 72
Pineal Hyperplasia and Diabetes Mellitus Syndrome 43 29 6
Rms 43 72
Hyperplasia, Pineal, Insulin-Resistant Diabetes Mellitus, Somatic Abnormalities 39
Insr-Related Severe Syndromic Insulin Resistance 20

Characteristics:

Orphanet epidemiological data:

58
rabson-mendenhall syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Rare endocrine diseases


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

MedlinePlus Genetics : 43 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 rhabdomyosarcoma and donohue syndrome, 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. Affiliated tissues include pineal, pancreas and tongue, and related phenotypes are intellectual disability and global developmental delay

GARD : 20 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 mutation in the INSR gene and is inherited in an autosomal recessive manner. Treatment is difficult and may include high doses of insulin and/or recombinant insulin-like growth factor. The long-term outlook for people with RMS is variable. Unregulated sugar levels over a long period of time can lead to a shortened lifespan. 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. Most children with Donohue syndrome die before one year of age. Type A insulin resistance syndrome (type A) is a milder form of INSR -related syndromic insulin resistance. People with type A are often not diagnosed until their teens.

KEGG : 36 Rabson-Mendenhall syndrome (RMS) is a rare disorder involving severe insulin resistance due to mutations in the insulin receptor (INSR) gene. Obligatory symptoms are extreme hyperinsulinemia and profound insulin-resistance diabetes. Additional characteristics of RMS can include acanthosis nigricans, polycystic ovarian disease, hirsutism, precocity, pineal hyperplasia, and thick nails.

UniProtKB/Swiss-Prot : 72 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 : 73 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 173)
# Related Disease Score Top Affiliating Genes
1 rhabdomyosarcoma 31.1 INS IGFBP3 IGF1
2 donohue syndrome 31.0 INSR INS IGFBP3 IGF1
3 fasting hypoglycemia 30.6 INSR IGF1
4 acanthosis nigricans 30.4 INSR INS IGF1
5 hyperglycemia 30.2 INSR INS IGF1
6 gestational diabetes 30.1 INSR INS
7 hyperinsulinism 30.0 INSR INS IGFBP3 IGF1
8 glucose intolerance 29.7 INSR INS IGF1
9 hypoglycemia 29.7 INSR INS IGFBP3 IGF1
10 type 2 diabetes mellitus 29.7 INSR INS IGFBP3 IGF1
11 insulin-like growth factor i 29.4 INSR INS IGFBP3 IGF1
12 hyperandrogenism 29.3 INSR INS IGFBP3 IGF1
13 polycystic ovary syndrome 29.2 INSR INS IGFBP3 IGF1
14 diabetes mellitus, insulin-resistant, with acanthosis nigricans 11.4
15 acquired generalized lipodystrophy 11.3
16 insulin-resistance type b 11.3
17 large cell carcinoma with rhabdoid phenotype 10.9
18 insr-related severe syndromic insulin resistance 10.7
19 autosomal recessive disease 10.5
20 nephrocalcinosis 10.5
21 hypertrichosis 10.4
22 medullary sponge kidney 10.4
23 embryonal rhabdomyosarcoma 10.3
24 hydronephrosis 10.3
25 soft tissue sarcoma 10.3
26 alacrima, achalasia, and mental retardation syndrome 10.3
27 hypotonia 10.3
28 hyperinsulinemic hypoglycemia, familial, 2 10.2
29 diabetes mellitus, ketosis-prone 10.2
30 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.2
31 papilloma 10.2
32 bartter disease 10.2
33 hypokalemia 10.2
34 nephrolithiasis 10.2
35 precocious puberty 10.2
36 rhabdomyosarcoma 2 10.1
37 anxiety 10.1
38 hemangiopericytoma, malignant 10.0
39 sarcoma 10.0
40 thrombocytopenia 10.0
41 malignant fibrous histiocytoma 10.0
42 leiomyosarcoma 10.0
43 pleomorphic rhabdomyosarcoma 10.0
44 botryoid rhabdomyosarcoma 10.0
45 fibrosarcoma 10.0
46 spindle cell sarcoma 10.0
47 fibrous histiocytoma 10.0
48 androgen insensitivity syndrome 10.0 INS IGFBP3
49 abdominal obesity-metabolic syndrome 1 9.9 INSR INS
50 slipped capital femoral epiphysis 9.9 IGFBP3 IGF1

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 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
3 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
4 dry skin 58 31 frequent (33%) Frequent (79-30%) HP:0000958
5 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
6 dental crowding 58 31 frequent (33%) Frequent (79-30%) HP:0000678
7 acanthosis nigricans 58 31 frequent (33%) Frequent (79-30%) HP:0000956
8 severe postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008850
9 long penis 58 31 frequent (33%) Frequent (79-30%) HP:0000040
10 recurrent infections 58 31 frequent (33%) Frequent (79-30%) HP:0002719
11 thick hair 58 31 frequent (33%) Frequent (79-30%) HP:0100874
12 hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0001007
13 hypertrichosis 58 31 frequent (33%) Frequent (79-30%) HP:0000998
14 clitoral hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008665
15 increased serum testosterone level 58 31 frequent (33%) Frequent (79-30%) HP:0030088
16 postprandial hyperglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0011998
17 enlarged ovaries 58 31 frequent (33%) Frequent (79-30%) HP:0100879
18 insulin-resistant diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000831
19 fasting hyperinsulinemia 58 31 frequent (33%) Frequent (79-30%) HP:0008283
20 reduced subcutaneous adipose tissue 58 31 frequent (33%) Frequent (79-30%) HP:0003758
21 fasting hypoglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0003162
22 onychauxis 58 31 frequent (33%) Frequent (79-30%) HP:0012542
23 increased c-peptide level 58 31 frequent (33%) Frequent (79-30%) HP:0030796
24 lichenoid skin lesion 58 31 frequent (33%) Frequent (79-30%) HP:0031452
25 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
26 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
27 precocious puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000826
28 macroglossia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000158
29 coarse facial features 58 31 occasional (7.5%) Occasional (29-5%) HP:0000280
30 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
31 gingival overgrowth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000212
32 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
33 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
34 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
35 polydipsia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001959
36 hypokalemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002900
37 retinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000488
38 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
39 premature graying of hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002216
40 nephrocalcinosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000121
41 low anterior hairline 58 31 occasional (7.5%) Occasional (29-5%) HP:0000294
42 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
43 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
44 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
45 furrowed tongue 58 31 occasional (7.5%) Occasional (29-5%) HP:0000221
46 wide nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000445
47 advanced eruption of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0006288
48 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
49 polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0010442
50 diabetic ketoacidosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001953

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

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 9.46 IGF1 IGFBP3 INS INSR
2 endocrine/exocrine gland MP:0005379 9.26 IGF1 IGFBP3 INS INSR
3 muscle MP:0005369 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 29 INSR

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

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

40
Pineal, Pancreas, Tongue, Kidney, Skin, Bone, Cortex

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 95)
# 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. 57 6 54
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. 6 57 61
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 6
2121734 1990
4
Efficacy of recombinant methionyl human leptin therapy for the extreme insulin resistance of the Rabson-Mendenhall syndrome. 61 54 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 61 6
29082893 2018
6
Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 61 6
28765322 2017
7
A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome. 6 61
26691667 2016
8
Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. 61 6
27896077 2014
9
Acute response to recombinant insulin-like growth factor I in a patient with Mendenhall's syndrome. 54 6
2233914 1990
10
Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. 61 6
2365819 1990
11
A primary defect in insulin receptor in a young male patient with insulin resistance. 61 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. 61 57
6339538 1983
13
Rabson Mendenhall Syndrome caused by a novel missense mutation. 61 20
27891155 2016
14
Brief report: melatonin-related hypogonadotropic hypogonadism. 57
1406837 1992
15
Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene alleles. 6
2002058 1991
16
Episodic nyctohemeral secretion of melatonin in adult humans: lack of relation with LH pulsatile pattern. 57
2305607 1990
17
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
18
Melatonin state in Mendenhall's syndrome. 57
3415309 1988
19
Light suppresses melatonin secretion in humans. 57
7434030 1980
20
Familial insulin resistance with pineal hyperplasia: metabolic studies and effect of hypophysectomy. 57
7002061 1980
21
Familial insulin-resistant diabetes, multiple somatic anomalies, and pineal hyperplasia. 57
1190820 1975
22
Insulin resistance, skin changes, and virilization: a recessively inherited syndrome possibly due to pineal gland dysfunction. 57
4413914 1974
23
Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus; report of 3 cases. 57
13302174 1956
24
Rabson-Mendenhall syndrome: two case reports and a brief review of the literature. 54 61
20155514 2010
25
Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome. 61 54
18411068 2008
26
Rabson-Mendenhall syndrome: medullary sponge kidney, a new component. 54 61
17849153 2007
27
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). 61 54
17560154 2007
28
IGF-I treatment of insulin resistance. 61 54
17785698 2007
29
Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome. 54 61
17201797 2007
30
A nonsense mutation in the Arg345 of the insulin receptor gene in a Japanese type A insulin-resistant patient. 54 61
16127220 2005
31
Clinical evidence that hyperinsulinaemia independent of gonadotropins stimulates ovarian growth. 54 61
15963065 2005
32
Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. 54 61
15232309 2004
33
Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. 54 61
12970295 2003
34
Genotype-phenotype correlation in inherited severe insulin resistance. 61 54
12023989 2002
35
Decreased half-life of insulin-like growth factor I in Rabson-Mendenhall syndrome. 54 61
11757582 2001
36
Defective insulin receptors in Rabson-Mendenhall syndrome cause complete peripheral insulin resistance but minimal hepatic insulin response remains. 61 54
15016231 2000
37
Progressive decline in insulin levels in Rabson-Mendenhall syndrome. 54 61
10443650 1999
38
[Syndromes of severe insulin resistance]. 54 61
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. 61 54
9212040 1997
40
Functional activation of mutant human insulin receptor by monoclonal antibody. 61 54
8667867 1996
41
Mutant insulin receptors in syndromes of insulin resistance. 61 54
8734453 1996
42
Insulin receptor disorders in Japan. 61 54
7859597 1994
43
Impaired growth in Rabson-Mendenhall syndrome: lack of effect of growth hormone and insulin-like growth factor-I. 54 61
8077364 1994
44
[Insulin receptor and diabetes]. 54 61
7939336 1994
45
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. 61 54
8270132 1993
46
Insulin, Insulin Everywhere: A Rare Case Report of Rabson-Mendenhall Syndrome. 61
33728143 2021
47
Rabson-Mendenhall Syndrome in a brother-sister pair in Kuwait: Diagnosis and 5 year follow up. 61
32843252 2021
48
Rare Ocular Complication in a Patient with Rabson-Mendenhall Syndrome. 61
32623589 2021
49
A New Mutation of the INSR Gene in a 13-Year-Old Girl with Severe Insulin Resistance Syndrome in China. 61
33728347 2021
50
Two Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome. 61
32655340 2020

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

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

6 (show top 50) (show all 252)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 INSR NM_000208.4(INSR):c.126C>A (p.Asn42Lys) SNV Pathogenic 14691 rs121913143 GRCh37: 19:7267882-7267882
GRCh38: 19:7267871-7267871
2 INSR NM_000208.4(INSR):c.1124-2A>G SNV Pathogenic 14712 rs587776819 GRCh37: 19:7172447-7172447
GRCh38: 19:7172436-7172436
3 INSR NM_000208.4(INSR):c.2480_2487del (p.Gln827fs) Deletion Pathogenic 14713 rs587776820 GRCh37: 19:7142882-7142889
GRCh38: 19:7142871-7142878
4 INSR NM_000208.4(INSR):c.394G>A (p.Gly132Ser) SNV Pathogenic 208852 rs886037750 GRCh37: 19:7267614-7267614
GRCh38: 19:7267603-7267603
5 INSR NM_000208.4(INSR):c.2997T>G (p.Tyr999Ter) SNV Pathogenic 377383 rs1135401740 GRCh37: 19:7126611-7126611
GRCh38: 19:7126600-7126600
6 INSR NM_000208.4(INSR):c.2525C>T (p.Ala842Val) SNV Pathogenic 377382 rs1135401738 GRCh37: 19:7142844-7142844
GRCh38: 19:7142833-7142833
7 INSR NM_000208.4(INSR):c.2030_2267+1del Deletion Pathogenic 430587 GRCh37: 19:7150507-7152938
GRCh38: 19:7150496-7152927
8 INSR NM_000208.4(INSR):c.3079C>T (p.Arg1027Ter) SNV Pathogenic 14692 rs121913144 GRCh37: 19:7125473-7125473
GRCh38: 19:7125462-7125462
9 INSR NM_000208.4(INSR):c.*999A>G SNV Uncertain significance 330412 rs372034184 GRCh37: 19:7116068-7116068
GRCh38: 19:7116057-7116057
10 INSR NM_000208.4(INSR):c.*12G>A SNV Uncertain significance 330437 rs375751275 GRCh37: 19:7117055-7117055
GRCh38: 19:7117044-7117044
11 INSR NM_000208.4(INSR):c.1628C>T (p.Thr543Met) SNV Uncertain significance 330471 rs767160876 GRCh37: 19:7166398-7166398
GRCh38: 19:7166387-7166387
12 INSR NM_000208.4(INSR):c.*1967G>A SNV Uncertain significance 330399 rs886054672 GRCh37: 19:7115100-7115100
GRCh38: 19:7115089-7115089
13 INSR NM_000208.4(INSR):c.*349_*355dup Duplication Uncertain significance 330430 rs71177157 GRCh37: 19:7116711-7116712
GRCh38: 19:7116700-7116701
14 INSR NM_000208.4(INSR):c.3370-12T>G SNV Uncertain significance 330444 rs200201955 GRCh37: 19:7122796-7122796
GRCh38: 19:7122785-7122785
15 INSR NM_000208.4(INSR):c.2268-3C>T SNV Uncertain significance 330464 rs750201666 GRCh37: 19:7143104-7143104
GRCh38: 19:7143093-7143093
16 INSR NM_000208.4(INSR):c.*4719dup Duplication Uncertain significance 330346 rs543556010 GRCh37: 19:7112347-7112348
GRCh38: 19:7112336-7112337
17 INSR NM_000208.4(INSR):c.*3390_*3392CAA[4] Microsatellite Uncertain significance 330367 rs886054663 GRCh37: 19:7113663-7113665
GRCh38: 19:7113652-7113654
18 INSR NM_000208.4(INSR):c.*3008_*3009del Deletion Uncertain significance 330374 rs1555733404 GRCh37: 19:7114058-7114059
GRCh38: 19:7114047-7114048
19 INSR NM_000208.4(INSR):c.2245G>A (p.Gly749Ser) SNV Uncertain significance 330465 rs545885277 GRCh37: 19:7150530-7150530
GRCh38: 19:7150519-7150519
20 INSR NM_000208.4(INSR):c.2471C>T (p.Ala824Val) SNV Uncertain significance 330459 rs886054689 GRCh37: 19:7142898-7142898
GRCh38: 19:7142887-7142887
21 INSR NM_000208.4(INSR):c.*3654G>A SNV Uncertain significance 330362 rs753611294 GRCh37: 19:7113413-7113413
GRCh38: 19:7113402-7113402
22 INSR NM_000208.4(INSR):c.3383G>A (p.Arg1128His) SNV Uncertain significance 330443 rs202160383 GRCh37: 19:7122771-7122771
GRCh38: 19:7122760-7122760
23 INSR NM_000208.4(INSR):c.41T>C (p.Leu14Pro) SNV Uncertain significance 289211 rs745857330 GRCh37: 19:7293862-7293862
GRCh38: 19:7293851-7293851
24 INSR NM_000208.4(INSR):c.*358_*359insTTTTTT Insertion Uncertain significance 330425 rs886054680 GRCh37: 19:7116708-7116709
GRCh38: 19:7116697-7116698
25 INSR NM_000208.4(INSR):c.*2136T>A SNV Uncertain significance 330395 rs886054671 GRCh37: 19:7114931-7114931
GRCh38: 19:7114920-7114920
26 INSR NM_000208.4(INSR):c.2280A>G (p.Lys760=) SNV Uncertain significance 330463 rs373695282 GRCh37: 19:7143089-7143089
GRCh38: 19:7143078-7143078
27 INSR NM_000208.4(INSR):c.2933T>A (p.Phe978Tyr) SNV Uncertain significance 330449 rs886054688 GRCh37: 19:7128875-7128875
GRCh38: 19:7128864-7128864
28 INSR NM_000208.4(INSR):c.*2255T>G SNV Uncertain significance 330391 rs547131375 GRCh37: 19:7114812-7114812
GRCh38: 19:7114801-7114801
29 INSR NM_000208.4(INSR):c.*613C>T SNV Uncertain significance 330419 rs779517721 GRCh37: 19:7116454-7116454
GRCh38: 19:7116443-7116443
30 INSR NM_000208.4(INSR):c.2573C>T (p.Thr858Met) SNV Uncertain significance 330455 rs201466857 GRCh37: 19:7141797-7141797
GRCh38: 19:7141786-7141786
31 INSR NM_000208.4(INSR):c.-12G>C SNV Uncertain significance 330482 rs143135433 GRCh37: 19:7293914-7293914
GRCh38: 19:7293903-7293903
32 INSR NM_000208.4(INSR):c.*2853T>C SNV Uncertain significance 330377 rs186288667 GRCh37: 19:7114214-7114214
GRCh38: 19:7114203-7114203
33 INSR NM_000208.4(INSR):c.*973dup Duplication Uncertain significance 330413 rs547421118 GRCh37: 19:7116093-7116094
GRCh38: 19:7116082-7116083
34 INSR NM_000208.4(INSR):c.*2517A>G SNV Uncertain significance 330384 rs886054668 GRCh37: 19:7114550-7114550
GRCh38: 19:7114539-7114539
35 INSR NM_000208.4(INSR):c.*541dup Duplication Uncertain significance 330420 rs886054678 GRCh37: 19:7116525-7116526
GRCh38: 19:7116514-7116515
36 INSR NM_000208.4(INSR):c.4028G>A (p.Arg1343Gln) SNV Uncertain significance 330439 rs753624268 GRCh37: 19:7117188-7117188
GRCh38: 19:7117177-7117177
37 INSR NM_000208.4(INSR):c.*334del Deletion Uncertain significance 330431 rs886054683 GRCh37: 19:7116733-7116733
GRCh38: 19:7116722-7116722
38 INSR NM_000208.4(INSR):c.*2318G>A SNV Uncertain significance 330390 rs80330850 GRCh37: 19:7114749-7114749
GRCh38: 19:7114738-7114738
39 INSR NM_000208.4(INSR):c.*1592G>A SNV Uncertain significance 330402 rs886054673 GRCh37: 19:7115475-7115475
GRCh38: 19:7115464-7115464
40 INSR NM_000208.4(INSR):c.3669C>T (p.Gly1223=) SNV Uncertain significance 330441 rs750713967 GRCh37: 19:7119585-7119585
GRCh38: 19:7119574-7119574
41 INSR NM_000208.4(INSR):c.*3009del Deletion Uncertain significance 330373 rs140355086 GRCh37: 19:7114058-7114058
GRCh38: 19:7114047-7114047
42 INSR NM_000208.4(INSR):c.3054G>A (p.Val1018=) SNV Uncertain significance 330446 rs886054687 GRCh37: 19:7125498-7125498
GRCh38: 19:7125487-7125487
43 INSR NM_000208.4(INSR):c.*2149C>T SNV Uncertain significance 330393 rs886054670 GRCh37: 19:7114918-7114918
GRCh38: 19:7114907-7114907
44 INSR NM_000208.4(INSR):c.*348_*355dup Duplication Uncertain significance 330429 rs71177157 GRCh37: 19:7116711-7116712
GRCh38: 19:7116700-7116701
45 INSR NM_000208.4(INSR):c.2838C>G (p.Asp946Glu) SNV Uncertain significance 211195 rs146588336 GRCh37: 19:7132173-7132173
GRCh38: 19:7132162-7132162
46 INSR NM_000208.4(INSR):c.*3008del Deletion Uncertain significance 330375 rs72149315 GRCh37: 19:7114059-7114059
GRCh38: 19:7114048-7114048
47 INSR NM_000208.4(INSR):c.*2145_*2146dup Duplication Uncertain significance 330394 rs57473640 GRCh37: 19:7114920-7114921
GRCh38: 19:7114909-7114910
48 INSR NM_000208.4(INSR):c.*927_*928insG Insertion Uncertain significance 330415 rs886054675 GRCh37: 19:7116139-7116140
GRCh38: 19:7116128-7116129
49 INSR NM_000208.4(INSR):c.14G>A (p.Gly5Asp) SNV Uncertain significance 330481 rs886054690 GRCh37: 19:7293889-7293889
GRCh38: 19:7293878-7293878
50 INSR NM_000208.4(INSR):c.*1525G>A SNV Uncertain significance 330403 rs886054674 GRCh37: 19:7115542-7115542
GRCh38: 19:7115531-7115531

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

72 (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 rs156842670
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 rs113540173
12 INSR p.Ala842Val VAR_079544 rs113540173
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 KEGG:

36
# Name Kegg Source Accession
1 Adherens junction hsa04520
2 Insulin signaling pathway hsa04910
3 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 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.69 INSR INS IGF1
2
Show member pathways
12.63 INSR INS IGF1
3 12.43 INSR INS IGF1
4
Show member pathways
12.39 INSR INS IGF1
5
Show member pathways
12.33 INSR INS IGFBP3 IGF1
6 12.19 INSR INS IGFBP3
7
Show member pathways
12.15 INSR INS IGF1
8
Show member pathways
12.13 INSR INS IGF1
9
Show member pathways
11.79 INSR INS IGF1
10 11.77 INS IGF1
11 11.76 INS IGF1
12
Show member pathways
11.73 INSR INS
13
Show member pathways
11.72 INSR INS IGF1
14
Show member pathways
11.67 INSR INS
15
Show member pathways
11.6 INSR INS
16 11.58 INSR INS IGF1
17 11.52 INS IGFBP3 IGF1
18 11.43 INSR INS
19 11.36 INSR INS
20 11.32 INS IGF1
21 11.31 INS IGFBP3 IGF1
22 11.29 INSR INS
23 11.26 INS IGF1
24 11.19 INSR INS
25
Show member pathways
11.17 INSR INS
26 11 INSR INS
27 10.86 INSR INS
28 10.84 INSR INS IGF1
29 10.78 IGFBP3 IGF1
30 10.37 INSR INS IGF1

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 8.96 IGFBP3 IGF1
2 insulin-like growth factor binding protein complex GO:0016942 8.62 IGFBP3 IGF1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.7 INSR INS IGF1
2 positive regulation of cell migration GO:0030335 9.69 INSR INS IGF1
3 cellular protein metabolic process GO:0044267 9.67 INS IGFBP3 IGF1
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.58 INSR INS IGF1
5 activation of MAPK activity GO:0000187 9.57 INSR IGF1
6 glucose homeostasis GO:0042593 9.56 INSR INS
7 wound healing GO:0042060 9.55 INS IGF1
8 insulin receptor signaling pathway GO:0008286 9.54 INSR INS
9 positive regulation of glucose import GO:0046326 9.54 INSR INS IGF1
10 activation of protein kinase B activity GO:0032148 9.5 INSR INS IGF1
11 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.48 IGFBP3 IGF1
12 neuron projection maintenance GO:1990535 9.46 INSR INS
13 positive regulation of respiratory burst GO:0060267 9.43 INSR INS
14 positive regulation of mitotic nuclear division GO:0045840 9.43 INSR INS IGF1
15 positive regulation of glycolytic process GO:0045821 9.33 INSR INS IGF1
16 positive regulation of glycogen biosynthetic process GO:0045725 9.13 INSR INS IGF1
17 positive regulation of MAPK cascade GO:0043410 8.92 INSR INS IGFBP3 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 hormone activity GO:0005179 9.32 INS IGF1
2 insulin receptor binding GO:0005158 9.26 INS IGF1
3 insulin-like growth factor I binding GO:0031994 9.16 INSR IGFBP3
4 insulin-like growth factor II binding GO:0031995 8.96 INSR IGFBP3
5 insulin-like growth factor receptor binding GO:0005159 8.8 INSR INS IGF1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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