RMS
MCID: PNL019
MIFTS: 57

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

Categories: Blood diseases, 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 56 52 25
Rabson-Mendenhall Syndrome 56 74 52 25 58 73 36 13 54 71
Mendenhall Syndrome 56 52 25 73
Pineal Hyperplasia and Diabetes Mellitus Syndrome 25 29 6
Rms 25 73
Hyperplasia, Pineal, Insulin-Resistant Diabetes Mellitus, Somatic Abnormalities 39
Insr-Related Severe Syndromic Insulin Resistance 52

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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...

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. 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 fasting hypoglycemia, 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, Globin Zinc and insulin have been mentioned in the context of this disorder. Affiliated tissues include pineal, skin and testes, and related phenotypes are intellectual disability and global developmental delay

NIH Rare Diseases : 52 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 : 73 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 : 74 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 202)
# Related Disease Score Top Affiliating Genes
1 donohue syndrome 31.4 INSR INS IGFBP3 IGF1
2 fasting hypoglycemia 30.8 INSR IGF1
3 acanthosis nigricans 30.5 INSR INS IGF1
4 hyperglycemia 30.3 INSR INS IGF1
5 hyperinsulinism 29.9 INSR INS IGFBP3 IGF1
6 hypoglycemia 29.6 INSR INS IGFBP3 IGF1
7 gestational diabetes 29.4 INSR INS IGF1
8 insulin-like growth factor i 29.3 INSR INS IGFBP3 IGF1
9 polycystic ovary syndrome 29.3 INSR INS IGFBP3 IGF1
10 diabetes mellitus, noninsulin-dependent 29.2 INSR INS IGFBP3 IGF1
11 hyperandrogenism 29.1 INSR INS IGFBP3 IGF1
12 glucose intolerance 28.8 INSR INS IGFBP3 IGF1
13 diabetes mellitus, insulin-resistant, with acanthosis nigricans 12.1
14 rhabdomyosarcoma 11.8
15 acquired generalized lipodystrophy 11.6
16 insulin-resistance type b 11.6
17 myoglobinuria, recurrent 11.3
18 large cell carcinoma with rhabdoid phenotype 11.2
19 insr-related severe syndromic insulin resistance 10.9
20 autosomal recessive disease 10.7
21 nephrocalcinosis 10.6
22 medullary sponge kidney 10.6
23 hydronephrosis 10.5
24 hypertrichosis 10.5
25 embryonal rhabdomyosarcoma 10.4
26 hyperinsulinemic hypoglycemia, familial, 2 10.4
27 diabetes mellitus, ketosis-prone 10.4
28 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.4
29 papilloma 10.4
30 bartter disease 10.4
31 hypokalemia 10.4
32 nephrolithiasis 10.4
33 hair-an syndrome 10.4
34 precocious puberty 10.4
35 soft tissue sarcoma 10.3
36 rhabdomyosarcoma 2 10.2
37 alacrima, achalasia, and mental retardation syndrome 10.2
38 hypotonia 10.2
39 anxiety 10.2
40 developmental dysplasia of the hip 1 10.1
41 pertussis 10.1
42 botryoid rhabdomyosarcoma 10.1
43 autoimmune disease 9.9
44 bladder cancer 9.9
45 systemic lupus erythematosus 9.9
46 myositis 9.9
47 hemifacial microsomia 9.9
48 polykaryocytosis inducer 9.9
49 sarcoidosis 1 9.9
50 enterocolitis 9.9

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 60)
# 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 macroglossia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000158
26 coarse facial features 58 31 occasional (7.5%) Occasional (29-5%) HP:0000280
27 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
28 gingival overgrowth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000212
29 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
30 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
31 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
32 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
33 polydipsia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001959
34 hypokalemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002900
35 retinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000488
36 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
37 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
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 precocious puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000826
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:

56
Growth Height:
short stature

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

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

Skin Nails Hair Skin:
dry skin
acanthosis nigricans
lichenified skin

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

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

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 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...

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, Globin Zinc Phase 2
2 insulin Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of Leptin in Severe Insulin Resistance: A Pilot Study Completed NCT00027456 Phase 2 Leptin A-100

Search 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, Skin, Testes, Ovary, Kidney, Eye, Heart

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 90)
# 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. 54 6 56
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. 61 56 6
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. 6 56
2121734 1990
4
Efficacy of recombinant methionyl human leptin therapy for the extreme insulin resistance of the Rabson-Mendenhall syndrome. 61 54 56
15070911 2004
5
INSR-Related Severe Syndromic Insulin Resistance 61 6
29369573 2018
6
Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. 61 6
27896077 2014
7
Acute response to recombinant insulin-like growth factor I in a patient with Mendenhall's syndrome. 6 54
2233914 1990
8
Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. 6 61
2365819 1990
9
A primary defect in insulin receptor in a young male patient with insulin resistance. 61 56
3020345 1986
10
Decreased insulin binding to cultured cells from a patient with the Rabson-Mendenhall syndrome: dichotomy between studies with cultured lymphocytes and cultured fibroblasts. 56 61
6339538 1983
11
Rabson Mendenhall Syndrome caused by a novel missense mutation. 52 61
27891155 2016
12
Brief report: melatonin-related hypogonadotropic hypogonadism. 56
1406837 1992
13
Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene alleles. 6
2002058 1991
14
Episodic nyctohemeral secretion of melatonin in adult humans: lack of relation with LH pulsatile pattern. 56
2305607 1990
15
A mutation in the insulin receptor gene that impairs transport of the receptor to the plasma membrane and causes insulin-resistant diabetes. 56
2573522 1989
16
Melatonin state in Mendenhall's syndrome. 56
3415309 1988
17
Light suppresses melatonin secretion in humans. 56
7434030 1980
18
Familial insulin resistance with pineal hyperplasia: metabolic studies and effect of hypophysectomy. 56
7002061 1980
19
Familial insulin-resistant diabetes, multiple somatic anomalies, and pineal hyperplasia. 56
1190820 1975
20
Insulin resistance, skin changes, and virilization: a recessively inherited syndrome possibly due to pineal gland dysfunction. 56
4413914 1974
21
Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus; report of 3 cases. 56
13302174 1956
22
Rabson-Mendenhall syndrome: two case reports and a brief review of the literature. 61 54
20155514 2010
23
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
24
Rabson-Mendenhall syndrome: medullary sponge kidney, a new component. 61 54
17849153 2007
25
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). 54 61
17560154 2007
26
IGF-I treatment of insulin resistance. 61 54
17785698 2007
27
Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome. 61 54
17201797 2007
28
A nonsense mutation in the Arg345 of the insulin receptor gene in a Japanese type A insulin-resistant patient. 61 54
16127220 2005
29
Clinical evidence that hyperinsulinaemia independent of gonadotropins stimulates ovarian growth. 61 54
15963065 2005
30
Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. 54 61
15232309 2004
31
Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. 54 61
12970295 2003
32
Genotype-phenotype correlation in inherited severe insulin resistance. 61 54
12023989 2002
33
Decreased half-life of insulin-like growth factor I in Rabson-Mendenhall syndrome. 61 54
11757582 2001
34
Defective insulin receptors in Rabson-Mendenhall syndrome cause complete peripheral insulin resistance but minimal hepatic insulin response remains. 61 54
15016231 2000
35
Progressive decline in insulin levels in Rabson-Mendenhall syndrome. 54 61
10443650 1999
36
[Syndromes of severe insulin resistance]. 61 54
10199143 1999
37
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
38
Functional activation of mutant human insulin receptor by monoclonal antibody. 61 54
8667867 1996
39
Mutant insulin receptors in syndromes of insulin resistance. 54 61
8734453 1996
40
Insulin receptor disorders in Japan. 61 54
7859597 1994
41
Impaired growth in Rabson-Mendenhall syndrome: lack of effect of growth hormone and insulin-like growth factor-I. 54 61
8077364 1994
42
[Insulin receptor and diabetes]. 61 54
7939336 1994
43
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
44
One Novel 2.43Kb Deletion and One Single Nucleotide Mutation of the INSR Gene in a Chinese Neonate with Rabson-Mendenhall Syndrome 61
29082893 2018
45
Mecasermin in Insulin Receptor-Related Severe Insulin Resistance Syndromes: Case Report and Review of the Literature. 61
29695048 2018
46
A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans. 61
28663160 2017
47
Hyperinsulinemia and Insulin Receptor Gene Mutation in Nonobese Healthy Subjects in Japan. 61
29264459 2017
48
Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 61
28765322 2017
49
Treatment of Diabetic Ketoacidosis With Intravenous U-500 Insulin in a Patient With Rabson-Mendenhall Syndrome: A Case Report. 61
27112737 2017
50
Identification of a Novel Homozygous INSR Variant in a Patient with Rabson-Mendenhall Syndrome from the United Arab Emirates. 61
27326825 2017

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

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

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 INSR NM_000208.4(INSR):c.2030_2267+1deldeletion Pathogenic 430587 19:7150507-7152938 19:7150496-7152927
2 INSR NM_000208.4(INSR):c.126C>A (p.Asn42Lys)SNV Pathogenic 14691 rs121913143 19:7267882-7267882 19:7267871-7267871
3 INSR NM_000208.4(INSR):c.3079C>T (p.Arg1027Ter)SNV Pathogenic 14692 rs121913144 19:7125473-7125473 19:7125462-7125462
4 INSR NM_000208.4(INSR):c.394G>A (p.Gly132Ser)SNV Pathogenic 208852 rs886037750 19:7267614-7267614 19:7267603-7267603
5 INSR NM_000208.4(INSR):c.1124-2A>GSNV Pathogenic 14712 rs587776819 19:7172447-7172447 19:7172436-7172436
6 INSR NM_000208.4(INSR):c.2480_2487del (p.Gln827fs)deletion Pathogenic 14713 rs587776820 19:7142882-7142889 19:7142871-7142878
7 INSR NM_000208.4(INSR):c.190T>C (p.Leu64=)SNV Conflicting interpretations of pathogenicity 195041 rs144836032 19:7267818-7267818 19:7267807-7267807
8 INSR NM_000208.4(INSR):c.2838C>G (p.Asp946Glu)SNV Conflicting interpretations of pathogenicity 211195 rs146588336 19:7132173-7132173 19:7132162-7132162
9 INSR NM_000208.4(INSR):c.2736G>A (p.Arg912=)SNV Conflicting interpretations of pathogenicity 211194 rs147125937 19:7132275-7132275 19:7132264-7132264
10 INSR NM_000208.4(INSR):c.2243C>T (p.Ser748Leu)SNV Conflicting interpretations of pathogenicity 211190 rs143523271 19:7150532-7150532 19:7150521-7150521
11 INSR NM_000208.4(INSR):c.3034G>A (p.Val1012Met)SNV Conflicting interpretations of pathogenicity 14707 rs1799816 19:7125518-7125518 19:7125507-7125507
12 INSR NM_000208.4(INSR):c.225C>T (p.Asp75=)SNV Conflicting interpretations of pathogenicity 435514 rs41352749 19:7267783-7267783 19:7267772-7267772
13 INSR NM_000208.4(INSR):c.2793G>A (p.Ala931=)SNV Conflicting interpretations of pathogenicity 739582 19:7132218-7132218 19:7132207-7132207
14 INSR NM_000208.4(INSR):c.624A>G (p.Arg208=)SNV Conflicting interpretations of pathogenicity 742862 19:7267384-7267384 19:7267373-7267373
15 INSR NM_000208.4(INSR):c.575G>A (p.Gly192Asp)SNV Conflicting interpretations of pathogenicity 743458 19:7267433-7267433 19:7267422-7267422
16 INSR NM_000208.4(INSR):c.2295C>T (p.Gly765=)SNV Conflicting interpretations of pathogenicity 330462 rs142654992 19:7143074-7143074 19:7143063-7143063
17 INSR NM_000208.4(INSR):c.2117C>A (p.Ala706Asp)SNV Conflicting interpretations of pathogenicity 435518 rs142391704 19:7152851-7152851 19:7152840-7152840
18 INSR NM_000208.4(INSR):c.2388G>C (p.Arg796Ser)SNV Conflicting interpretations of pathogenicity 549552 rs78433961 19:7142981-7142981 19:7142970-7142970
19 INSR NM_000208.4(INSR):c.2263C>T (p.Pro755Ser)SNV Conflicting interpretations of pathogenicity 796295 19:7150512-7150512 19:7150501-7150501
20 INSR NM_000208.4(INSR):c.*4712T>CSNV Uncertain significance 893022 19:7112355-7112355 19:7112344-7112344
21 INSR NM_000208.4(INSR):c.*4696T>CSNV Uncertain significance 893241 19:7112371-7112371 19:7112360-7112360
22 INSR NM_000208.4(INSR):c.*4380G>ASNV Uncertain significance 894095 19:7112687-7112687 19:7112676-7112676
23 INSR NM_000208.4(INSR):c.*4376G>CSNV Uncertain significance 894487 19:7112691-7112691 19:7112680-7112680
24 INSR NM_000208.4(INSR):c.*3858G>ASNV Uncertain significance 894132 19:7113209-7113209 19:7113198-7113198
25 INSR NM_000208.4(INSR):c.*3855C>GSNV Uncertain significance 894525 19:7113212-7113212 19:7113201-7113201
26 INSR NM_000208.4(INSR):c.653-9T>CSNV Uncertain significance 592488 rs868296217 19:7184657-7184657 19:7184646-7184646
27 INSR NM_000208.4(INSR):c.3143G>A (p.Gly1048Asp)SNV Uncertain significance 631539 rs200921389 19:7125409-7125409 19:7125398-7125398
28 INSR NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn)SNV Uncertain significance 435517 rs369102740 19:7119479-7119479 19:7119468-7119468
29 INSR NM_000208.4(INSR):c.*97A>GSNV Uncertain significance 893832 19:7116970-7116970 19:7116959-7116959
30 INSR NM_000208.4(INSR):c.*87C>TSNV Uncertain significance 894751 19:7116980-7116980 19:7116969-7116969
31 INSR NM_000208.4(INSR):c.4139A>G (p.Asn1380Ser)SNV Uncertain significance 892766 19:7117077-7117077 19:7117066-7117066
32 INSR NM_000208.4(INSR):c.4133G>C (p.Arg1378Pro)SNV Uncertain significance 892767 19:7117083-7117083 19:7117072-7117072
33 INSR NM_000208.4(INSR):c.3844A>G (p.Thr1282Ala)SNV Uncertain significance 893573 19:7117372-7117372 19:7117361-7117361
34 INSR NM_000208.4(INSR):c.3501C>T (p.Val1167=)SNV Uncertain significance 893864 19:7122653-7122653 19:7122642-7122642
35 INSR NM_000208.4(INSR):c.3023G>C (p.Cys1008Ser)SNV Uncertain significance 893894 19:7125529-7125529 19:7125518-7125518
36 INSR NM_000208.4(INSR):c.2848G>A (p.Val950Ile)SNV Uncertain significance 894288 19:7128960-7128960 19:7128949-7128949
37 INSR NM_000208.4(INSR):c.2829C>T (p.Tyr943=)SNV Uncertain significance 892834 19:7132182-7132182 19:7132171-7132171
38 INSR NM_000208.4(INSR):c.2739G>T (p.Leu913=)SNV Uncertain significance 893639 19:7132272-7132272 19:7132261-7132261
39 INSR NM_000208.4(INSR):c.2698G>A (p.Val900Ile)SNV Uncertain significance 893925 19:7132313-7132313 19:7132302-7132302
40 INSR NM_000208.4(INSR):c.2602C>T (p.His868Tyr)SNV Uncertain significance 892863 19:7141768-7141768 19:7141757-7141757
41 INSR NM_000208.4(INSR):c.2596G>A (p.Val866Ile)SNV Uncertain significance 892864 19:7141774-7141774 19:7141763-7141763
42 INSR NM_000208.4(INSR):c.2522G>A (p.Ser841Asn)SNV Uncertain significance 894351 19:7142847-7142847 19:7142836-7142836
43 INSR NM_000208.4(INSR):c.2380G>A (p.Glu794Lys)SNV Uncertain significance 892904 19:7142989-7142989 19:7142978-7142978
44 INSR NM_000208.4(INSR):c.2276G>A (p.Arg759Gln)SNV Uncertain significance 893980 19:7143093-7143093 19:7143082-7143082
45 INSR NM_000208.4(INSR):c.2121C>T (p.Gly707=)SNV Uncertain significance 892937 19:7152847-7152847 19:7152836-7152836
46 INSR NM_000208.4(INSR):c.1988C>T (p.Ala663Val)SNV Uncertain significance 893170 19:7163084-7163084 19:7163073-7163073
47 INSR NM_000208.4(INSR):c.1866C>T (p.Pro622=)SNV Uncertain significance 894017 19:7163206-7163206 19:7163195-7163195
48 INSR NM_000208.4(INSR):c.1305A>G (p.Leu435=)SNV Uncertain significance 892977 19:7170726-7170726 19:7170715-7170715
49 INSR NM_000208.4(INSR):c.1056G>A (p.Thr352=)SNV Uncertain significance 894054 19:7174661-7174661 19:7174650-7174650
50 INSR NM_000208.4(INSR):c.783C>G (p.Asp261Glu)SNV Uncertain significance 893023 19:7184518-7184518 19:7184507-7184507

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
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 11.35 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 16)
# 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 9.56 INSR IGF1
6 glucose homeostasis GO:0042593 9.55 INSR INS
7 insulin receptor signaling pathway GO:0008286 9.54 INSR INS
8 positive regulation of glucose import GO:0046326 9.54 INSR INS IGF1
9 activation of protein kinase B activity GO:0032148 9.5 INSR INS IGF1
10 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.48 IGFBP3 IGF1
11 neuron projection maintenance GO:1990535 9.46 INSR INS
12 positive regulation of respiratory burst GO:0060267 9.43 INSR INS
13 positive regulation of mitotic nuclear division GO:0045840 9.43 INSR INS IGF1
14 positive regulation of glycolytic process GO:0045821 9.33 INSR INS IGF1
15 positive regulation of glycogen biosynthetic process GO:0045725 9.13 INSR INS IGF1
16 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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