LEPRCH
MCID: DNH001
MIFTS: 59

Donohue Syndrome (LEPRCH)

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

Aliases & Classifications for Donohue Syndrome

MalaCards integrated aliases for Donohue Syndrome:

Name: Donohue Syndrome 57 12 53 25 59 75 44 15 40 73
Leprechaunism 57 12 76 53 25 59 75 37 13 55
Leprechaunism Syndrome 25 29 6
Donohue's Syndrome 25
Leprch 75

Characteristics:

Orphanet epidemiological data:

59
leprechaunism
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
death often in early infancy


HPO:

32
donohue syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Donohue Syndrome

Genetics Home Reference : 25 Donohue 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. Severe insulin resistance leads to problems with regulating blood sugar levels and affects the development and function of organs and tissues throughout the body.

MalaCards based summary : Donohue Syndrome, also known as leprechaunism, is related to microvascular complications of diabetes 5 and hyperinsulinism, and has symptoms including elfin facies and female breast hyperplasia. An important gene associated with Donohue Syndrome is INSR (Insulin Receptor), and among its related pathways/superpathways are Adherens junction and Insulin signaling pathway. The drugs Hypoglycemic Agents and insulin have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and bone, and related phenotypes are hypertelorism and inguinal hernia

Disease Ontology : 12 An autosomal recessive disease that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has material basis in mutation within the INSR gene causing abnormalities in the insulin receptor.

NIH Rare Diseases : 53 Leprechaunism is a congenital (present from birth) condition characterized by extreme insulin resistance, pre- and postnatal growth delays, characteristic facial features, skin abnormalities, muscular hypotrophy (reduced muscle mass) and enlarged external genitalia in both males and females. The condition is caused by mutations in the insulin receptor gene (INSR) gene. It is inherited in an autosomal recessive manner.

UniProtKB/Swiss-Prot : 75 Leprechaunism: Represents the most severe form of insulin resistance syndrome, characterized by intrauterine and postnatal growth retardation and death in early infancy. Inheritance is autosomal recessive.

Wikipedia : 76 Donohue syndrome (also known as leprechaunism) is an extremely rare and severe genetic disorder.... more...

Description from OMIM: 246200

Related Diseases for Donohue Syndrome

Diseases related to Donohue Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 microvascular complications of diabetes 5 30.0 IGF1 INS
2 hyperinsulinism 29.8 IGF1 INS INSR
3 insulin-like growth factor i 29.5 INSR INS IGF1R IGF1 EGF
4 patterson pseudoleprechaunism syndrome 11.1
5 insulin-resistance type b 11.1
6 growth hormone deficiency 10.1
7 fasting hypoglycemia 10.1 IGF1 INSR
8 secondary adrenal insufficiency 10.1 IGF1 INS
9 hyperinsulinemic hypoglycemia 10.1 INS INSR
10 sheehan syndrome 10.1 IGF1 INS
11 hyperpituitarism 10.1 IGF1 INS
12 rubeosis iridis 10.1 IGF1 INS
13 endocrine pancreas disease 10.1 IGF1 INS
14 pancreas disease 10.1 IGF1 INS
15 endocrine organ benign neoplasm 10.0 IGF1 INS
16 anovulation 10.0 IGF1 INS
17 spinal chordoma 10.0 IGF1R INSR
18 pituitary gland disease 10.0 IGF1 INS
19 craniopharyngioma 10.0 IGF1 INS
20 cell type benign neoplasm 10.0 IGF1 INS
21 hypopituitarism 10.0 IGF1 INS
22 sleep apnea 10.0 IGF1 INS
23 overnutrition 10.0 IGF1 INS
24 patent ductus arteriosus 1 10.0
25 leptin deficiency or dysfunction 10.0
26 hypertrophic cardiomyopathy 10.0
27 atypical teratoid rhabdoid tumor 10.0 AURKA IGF1R
28 gonadal disease 10.0 IGF1 INS
29 glucose metabolism disease 10.0 IGF1 INS
30 hydrocephalus 9.9
31 heart disease 9.9
32 cockayne syndrome 9.9
33 hypertrichosis 9.9
34 juvenile type testicular granulosa cell tumor 9.9
35 dwarfism 9.9
36 granulosa cell tumor of the ovary 9.9
37 megalencephaly 9.9
38 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 9.9 INSR INS IGF1
39 fetal macrosomia 9.9 INSR INS IGF1
40 hyperandrogenism 9.9 IGF1 INS INSR
41 glucose intolerance 9.9 IGF1 INS INSR
42 polycystic ovary syndrome 9.9 IGF1 INS INSR
43 hyperglycemia 9.9 IGF1 INS INSR
44 short bowel syndrome 9.9 EGF IGF1
45 acquired metabolic disease 9.9 IGF1 INS
46 ovarian disease 9.8 IGF1 IGF1R INS
47 acromegaly 9.8 IGF1 INS
48 body mass index quantitative trait locus 11 9.8 IGF1 INS INSR
49 acanthosis nigricans 9.7 INSR INS IGF1R IGF1
50 glioblastoma multiforme 9.7 EGF IGF1 IGF1R

Graphical network of the top 20 diseases related to Donohue Syndrome:



Diseases related to Donohue Syndrome

Symptoms & Phenotypes for Donohue Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
large ears

Skin Nails Hair Skin:
hyperkeratosis
acanthosis nigricans
pachyderma

Abdomen Liver:
hepatic fibrosis
cholestasis

Chest Breasts:
prominent nipples
breast hyperplasia (female)

Abdomen External Features:
abdominal distention

Skeletal Feet:
large feet

Skeletal:
delayed bone age

Skin Nails Hair Nails:
dysplastic nails

Genitourinary Internal Genitalia Male:
leydig cell hyperplasia

Immunology:
frequent infections
decreased lymphatic tissue (tonsil, thymus, mesenteric nodes, peyer patches)

Abdomen Pancreas:
islets of langerhans hyperplasia

Genitourinary Internal Genitalia Female:
cystic ovaries

Neoplasia:
juvenile ovarian granulosa cell tumor

Endocrine Features:
precocious puberty
hyperinsulinemia

Growth Other:
postnatal growth retardation
severe failure to thrive
prenatal growth retardation

Head And Neck Face:
elfin facies
small face

Laboratory Abnormalities:
postprandial hyperglycemia
fasting hypoglycemia
elevated plasma insulin
absent anti-insulin receptor antibodies

Skeletal Hands:
large hands

Head And Neck Mouth:
thick lips
large mouth
gingival hyperplasia

Muscle Soft Tissue:
muscle wasting
marked lack of adipose tissue

Head And Neck Eyes:
prominent eyes

Genitourinary External Genitalia Male:
large penis

Head And Neck Nose:
wide nostrils

Genitourinary External Genitalia Female:
large clitoris

Skin Nails Hair Hair:
hypertrichosis (body, face)


Clinical features from OMIM:

246200

Human phenotypes related to Donohue Syndrome:

59 32 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 inguinal hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000023
3 macrotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000400
4 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
5 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
6 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
7 type ii diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0005978
8 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
9 abnormal facial shape 59 32 hallmark (90%) Very frequent (99-80%) HP:0001999
10 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
11 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
12 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
13 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
14 lipoatrophy 59 32 frequent (33%) Frequent (79-30%) HP:0100578
15 hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001943
16 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
17 thick lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000179
18 thick nasal alae 59 32 hallmark (90%) Very frequent (99-80%) HP:0009928
19 generalized hirsutism 59 32 frequent (33%) Frequent (79-30%) HP:0002230
20 hearing abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0000364
21 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
22 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
23 thickened nuchal skin fold 59 32 hallmark (90%) Very frequent (99-80%) HP:0000474
24 high, narrow palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002705
25 hyperinsulinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000842
26 hepatic fibrosis 59 32 frequent (33%) Frequent (79-30%) HP:0001395
27 cachexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004326
28 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
29 cholestasis 59 32 frequent (33%) Frequent (79-30%) HP:0001396
30 gynecomastia 59 32 frequent (33%) Frequent (79-30%) HP:0000771
31 long penis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000040
32 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
33 severe failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001525
34 prominent nipples 59 32 frequent (33%) Frequent (79-30%) HP:0004405
35 asymmetry of the breasts 59 32 occasional (7.5%) Occasional (29-5%) HP:0010312
36 female pseudohermaphroditism 59 32 frequent (33%) Frequent (79-30%) HP:0010458
37 low-set ears 32 HP:0000369
38 precocious puberty 32 HP:0000826
39 gingival overgrowth 32 HP:0000212
40 hyperkeratosis 32 HP:0000962
41 acanthosis nigricans 32 HP:0000956
42 postnatal growth retardation 32 HP:0008897
43 wide mouth 32 HP:0000154
44 recurrent infections 32 HP:0002719
45 elfin facies 32 HP:0004428
46 nail dysplasia 32 HP:0002164
47 hypermelanotic macule 32 HP:0001034
48 postprandial hyperglycemia 32 HP:0011998
49 abdominal distention 32 HP:0003270
50 large hands 32 HP:0001176

UMLS symptoms related to Donohue Syndrome:


elfin facies, female breast hyperplasia

GenomeRNAi Phenotypes related to Donohue Syndrome according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.49 AURKA
2 Decreased viability GR00221-A-1 10.49 AURKA IGF1R INSR
3 Decreased viability GR00221-A-2 10.49 AURKA IGF1R INSR
4 Decreased viability GR00221-A-3 10.49 IGF1R INSR
5 Decreased viability GR00221-A-4 10.49 AURKA INSR
6 Decreased viability GR00231-A 10.49 AURKA
7 Decreased viability GR00301-A 10.49 IGF1R
8 Decreased viability GR00342-S-2 10.49 IGF1R
9 Decreased viability GR00402-S-2 10.49 AURKA IGF1R INSR
10 Decreased substrate adherent cell growth GR00193-A-1 9.62 IGF1R
11 Decreased substrate adherent cell growth GR00193-A-3 9.62 INSR
12 Decreased substrate adherent cell growth GR00193-A-4 9.62 IGF1R INSR
13 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.54 AURKA IGF1R INSR
14 Increased cell death HMECs cells GR00103-A-0 9.46 AURKA IGF1R INS INSR
15 Increased cell viability after pRB stimulation GR00230-A-1 9.13 AURKA IGF1R INSR
16 Increased colony dispersion (increased number of colonies and decreased number of cells per colony) GR00212-A 8.62 AURKA IGF1R

MGI Mouse Phenotypes related to Donohue Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.67 IGF1 IGF1R INS INSR
2 endocrine/exocrine gland MP:0005379 9.65 EGF IGF1 IGF1R INS INSR
3 growth/size/body region MP:0005378 9.63 AURKA EGF IGF1 IGF1R INS INSR
4 digestive/alimentary MP:0005381 9.62 EGF IGF1R INS INSR
5 muscle MP:0005369 9.26 IGF1 IGF1R INS INSR
6 reproductive system MP:0005389 9.02 EGF IGF1 IGF1R INS INSR

Drugs & Therapeutics for Donohue Syndrome

Drugs for Donohue Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


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

Interventional clinical trials:


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

Search NIH Clinical Center for Donohue Syndrome

Cochrane evidence based reviews: donohue syndrome

Genetic Tests for Donohue Syndrome

Genetic tests related to Donohue Syndrome:

# Genetic test Affiliating Genes
1 Leprechaunism Syndrome 29 INSR

Anatomical Context for Donohue Syndrome

MalaCards organs/tissues related to Donohue Syndrome:

41
Skin, Breast, Bone, Eye, Ovary, Heart, Thymus

Publications for Donohue Syndrome

Articles related to Donohue Syndrome:

(show top 50) (show all 95)
# Title Authors Year
1
Donohue syndrome: A review of literature, case series, and anesthetic considerations. ( 29148123 )
2018
2
Gastrointestinal dysmotility and pancreatic insufficiency in 2 siblings with Donohue syndrome. ( 28004474 )
2017
3
A case of Donohue syndrome &amp;quot;Leprechaunism&amp;quot; with a novel mutation in the insulin receptor gene. ( 29483803 )
2017
4
Enteroinsular hormones in two siblings with Donohue syndrome and complete leptin deficiency. ( 29226618 )
2017
5
Novel heterozygous mutations of the INSR gene in a familial case of Donohue syndrome. ( 28803747 )
2017
6
Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome. ( 26974131 )
2016
7
First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene. ( 26874853 )
2016
8
Donohue syndrome. Extreme insulin resistance in the neonatal period. ( 26619761 )
2016
9
Classic Case Report of Donohue Syndrome (Leprechaunism; OMIM *246200): The Impact of Consanguineous Mating. ( 26871809 )
2016
10
Hypertrophic cardiomyopathy in Donohue syndrome. ( 26555333 )
2015
11
Donohue syndrome and use of continuous subcutaneous insulin pump therapy. ( 26508115 )
2015
12
Donohue syndrome: a new case with a new complication. ( 25741786 )
2015
13
Leprechaunism (Donohue Syndrome). ( 26388649 )
2015
14
Two novel mutations identified in familial cases with Donohue syndrome. ( 24498630 )
2014
15
Continuous subcutaneous IGF-1 therapy via insulin pump in a patient with Donohue syndrome. ( 25153212 )
2014
16
A syndrome of insulin resistance resembling Donohue syndrome with patent ductus arteriosus. ( 24660547 )
2014
17
Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation. ( 23229189 )
2013
18
Development of endometrial carcinoma in a patient with leprechaunism (donohue syndrome). ( 23990696 )
2013
19
Leprechaunism (Donohue syndrome): a case bearing novel compound heterozygous mutations in the insulin receptor gene. ( 22972224 )
2013
20
Leprechaunism (Donohue syndrome): report of a case in a newborn. ( 24127532 )
2013
21
A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure. ( 22768670 )
2012
22
&amp;quot;Donohue syndrome&amp;quot;. ( 22399506 )
2012
23
Areolar sebaceous hyperplasia with underlying primary duct carcinoma of the breast in a woman with Donohue syndrome (leprechaunism). ( 22172957 )
2012
24
Sustained regression of florid diabetic retinopathy in a patient with Donohue syndrome (leprechaunism). ( 19882513 )
2010
25
Donohue syndrome in a neonate with homozygous deletion of exon 3 of the insulin receptor gene. ( 19774849 )
2009
26
Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome. ( 9703342 )
1998
27
Megalencephaly, hydrocephalus and cortical dysplasia in severe dwarfism mimicking leprechaunism. ( 9560023 )
1998
28
Leprechaunism/Donohue syndrome/insulin receptor gene mutations: a syndrome delineation story from clinicopathological description to molecular understanding. ( 9128805 )
1997
29
Homozygosity for a null allele of the insulin receptor gene in a patient with leprechaunism. ( 7550226 )
1995
30
Prenatal analysis of the insulin receptor gene in a family with leprechaunism. ( 8532629 )
1995
31
Effect of intravenous insulin-like growth factor I in two patients with leprechaunism. ( 7534902 )
1994
32
Alternative splicing of the insulin receptor isoforms is altered in patients with leprechaunism. ( 7535732 )
1994
33
Leprechaunism and homozygous nonsense mutation in the insulin receptor gene. ( 8105179 )
1993
34
Leprechaunism (Donohue's syndrome): a case report. ( 8160285 )
1993
35
Elevated cord human chorionic gonadotropin in leprechaunism. ( 1518711 )
1992
36
Glomerulopathy in patient with Donohue syndrome (leprechaunism). ( 1711953 )
1991
37
Leprechaunism (Donahue's syndrome). ( 2034437 )
1991
38
Molecular defects in the insulin receptor in patients with leprechaunism and in their parents. ( 2569023 )
1989
39
Restriction fragment length polymorphisms of the insulin receptor gene in families with insulin resistance and leprechaunism. ( 2574533 )
1989
40
Epidermal growth factor receptor defects in leprechaunism. A multiple growth factor-resistant syndrome. ( 2808704 )
1989
41
Immunological abnormalities in insulin receptors on cultured EBV-transformed lymphocytes from insulin-resistant patient with leprechaunism. ( 2454859 )
1988
42
Insulin receptor function in fibroblasts from patients with leprechaunism. Differential alterations in binding, autophosphorylation, kinase activity, and receptor-mediated internalization. ( 3049675 )
1988
43
Dysmorphic lungs in a case of leprechaunism: case report and review of literature. ( 3065706 )
1988
44
Pancreatic exocrine aplasia, clinical features of leprechaunism, and abnormal gonadotropin regulation. ( 3110750 )
1987
45
Leprechaunism: in vitro insulin action despite genetic insulin resistance. ( 3309859 )
1987
46
Impaired insulin binding and excess glucose transport in fibroblasts from a patient with leprechaunism. ( 3440445 )
1987
47
Structural analysis of normal and mutant insulin receptors in fibroblasts cultured from families with leprechaunism. ( 3631076 )
1987
48
Tyrosine kinase activity of insulin receptors from an insulin-resistant patient with leprechaunism. ( 3653562 )
1987
49
Decreased cyclic guanosine 3',5' monophosphate and guanylate cyclase activity in leprechaunism: evidence for a postreceptor defect. ( 2871543 )
1986
50
Phenotypic expression in Donohue syndrome (leprechaunism): a role for epidermal growth factor. ( 3875706 )
1985

Variations for Donohue Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Donohue Syndrome:

75 (show all 25)
# Symbol AA change Variation ID SNP ID
1 INSR p.Val55Ala VAR_004080 rs121913152
2 INSR p.Gly58Arg VAR_004081 rs52836744
3 INSR p.Arg113Pro VAR_004082 rs121913153
4 INSR p.His236Arg VAR_004084 rs121913145
5 INSR p.Leu260Pro VAR_004085 rs121913141
6 INSR p.Gly393Arg VAR_004086 rs267607184
7 INSR p.Lys487Glu VAR_004088 rs121913136
8 INSR p.Ile146Met VAR_015539 rs121913159
9 INSR p.Trp439Ser VAR_015542 rs121913158
10 INSR p.Ala119Val VAR_015909
11 INSR p.Cys301Tyr VAR_015912
12 INSR p.Ser350Leu VAR_015914
13 INSR p.Ile925Thr VAR_015918
14 INSR p.Arg926Trp VAR_015919 rs911929963
15 INSR p.Thr937Met VAR_015920
16 INSR p.Arg1119Trp VAR_015925
17 INSR p.Arg1201Trp VAR_015930
18 INSR p.Glu1206Lys VAR_015932
19 INSR p.Leu120Gln VAR_031518
20 INSR p.Asn458Asp VAR_031521 rs121913160
21 INSR p.Ile56Thr VAR_079535
22 INSR p.Cys286Tyr VAR_079537
23 INSR p.Val657Phe VAR_079540
24 INSR p.Trp659Arg VAR_079541
25 INSR p.Tyr818Cys VAR_079542

ClinVar genetic disease variations for Donohue Syndrome:

6 (show top 50) (show all 347)
# Gene Variation Type Significance SNP ID Assembly Location
1 INSR NM_000208.3(INSR): c.1459A> G (p.Lys487Glu) single nucleotide variant Pathogenic rs121913136 GRCh37 Chromosome 19, 7170572: 7170572
2 INSR NM_000208.3(INSR): c.1459A> G (p.Lys487Glu) single nucleotide variant Pathogenic rs121913136 GRCh38 Chromosome 19, 7170561: 7170561
3 INSR NM_000208.3(INSR): c.1177G> A (p.Gly393Arg) single nucleotide variant Pathogenic rs267607184 GRCh37 Chromosome 19, 7172392: 7172392
4 INSR NM_000208.3(INSR): c.1177G> A (p.Gly393Arg) single nucleotide variant Pathogenic rs267607184 GRCh38 Chromosome 19, 7172381: 7172381
5 INSR NM_000208.3(INSR): c.2095C> T (p.Gln699Ter) single nucleotide variant Pathogenic rs121913137 GRCh37 Chromosome 19, 7152873: 7152873
6 INSR NM_000208.3(INSR): c.2095C> T (p.Gln699Ter) single nucleotide variant Pathogenic rs121913137 GRCh38 Chromosome 19, 7152862: 7152862
7 INSR NM_000208.3(INSR): c.2770C> T (p.Arg924Ter) single nucleotide variant Pathogenic rs387906538 GRCh37 Chromosome 19, 7132241: 7132241
8 INSR NM_000208.3(INSR): c.2770C> T (p.Arg924Ter) single nucleotide variant Pathogenic rs387906538 GRCh38 Chromosome 19, 7132230: 7132230
9 INSR NM_000208.3(INSR): c.779T> C (p.Leu260Pro) single nucleotide variant Pathogenic rs121913141 GRCh37 Chromosome 19, 7184522: 7184522
10 INSR NM_000208.3(INSR): c.779T> C (p.Leu260Pro) single nucleotide variant Pathogenic rs121913141 GRCh38 Chromosome 19, 7184511: 7184511
11 INSR NM_000208.3(INSR): c.707A> G (p.His236Arg) single nucleotide variant Pathogenic rs121913145 GRCh37 Chromosome 19, 7184594: 7184594
12 INSR NM_000208.3(INSR): c.707A> G (p.His236Arg) single nucleotide variant Pathogenic rs121913145 GRCh38 Chromosome 19, 7184583: 7184583
13 INSR NM_000208.3(INSR): c.172G> A (p.Gly58Arg) single nucleotide variant Pathogenic rs52836744 GRCh37 Chromosome 19, 7267836: 7267836
14 INSR NM_000208.3(INSR): c.172G> A (p.Gly58Arg) single nucleotide variant Pathogenic rs52836744 GRCh38 Chromosome 19, 7267825: 7267825
15 INSR NM_000208.3(INSR): c.1195C> T (p.Arg399Ter) single nucleotide variant Uncertain significance rs121913151 GRCh37 Chromosome 19, 7172374: 7172374
16 INSR NM_000208.3(INSR): c.1195C> T (p.Arg399Ter) single nucleotide variant Uncertain significance rs121913151 GRCh38 Chromosome 19, 7172363: 7172363
17 INSR NM_000208.3(INSR): c.164T> C (p.Val55Ala) single nucleotide variant Pathogenic rs121913152 GRCh37 Chromosome 19, 7267844: 7267844
18 INSR NM_000208.3(INSR): c.164T> C (p.Val55Ala) single nucleotide variant Pathogenic rs121913152 GRCh38 Chromosome 19, 7267833: 7267833
19 INSR NM_000208.3(INSR): c.338G> C (p.Arg113Pro) single nucleotide variant Pathogenic rs121913153 GRCh37 Chromosome 19, 7267670: 7267670
20 INSR NM_000208.3(INSR): c.338G> C (p.Arg113Pro) single nucleotide variant Pathogenic rs121913153 GRCh38 Chromosome 19, 7267659: 7267659
21 INSR NM_000208.3(INSR): c.442A> T (p.Lys148Ter) single nucleotide variant Pathogenic rs121913155 GRCh37 Chromosome 19, 7267566: 7267566
22 INSR NM_000208.3(INSR): c.442A> T (p.Lys148Ter) single nucleotide variant Pathogenic rs121913155 GRCh38 Chromosome 19, 7267555: 7267555
23 INSR NC_000019.10: g.(?_7112255)_(7249328_?)del deletion Pathogenic GRCh38 Chromosome 19, 7112255: 7249328
24 INSR NM_000208.3(INSR): c.1316G> C (p.Trp439Ser) single nucleotide variant Pathogenic rs121913158 GRCh37 Chromosome 19, 7170715: 7170715
25 INSR NM_000208.3(INSR): c.1316G> C (p.Trp439Ser) single nucleotide variant Pathogenic rs121913158 GRCh38 Chromosome 19, 7170704: 7170704
26 INSR NM_000208.3(INSR): c.438C> G (p.Ile146Met) single nucleotide variant Pathogenic rs121913159 GRCh37 Chromosome 19, 7267570: 7267570
27 INSR NM_000208.3(INSR): c.438C> G (p.Ile146Met) single nucleotide variant Pathogenic rs121913159 GRCh38 Chromosome 19, 7267559: 7267559
28 INSR NM_000208.3(INSR): c.1372A> G (p.Asn458Asp) single nucleotide variant Pathogenic rs121913160 GRCh37 Chromosome 19, 7170659: 7170659
29 INSR NM_000208.3(INSR): c.1372A> G (p.Asn458Asp) single nucleotide variant Pathogenic rs121913160 GRCh38 Chromosome 19, 7170648: 7170648
30 INSR NM_000208.3(INSR): c.5C> G (p.Ala2Gly) single nucleotide variant Benign rs7508518 GRCh37 Chromosome 19, 7293898: 7293898
31 INSR NM_000208.3(INSR): c.5C> G (p.Ala2Gly) single nucleotide variant Benign rs7508518 GRCh38 Chromosome 19, 7293887: 7293887
32 INSR NM_000208.3(INSR): c.2193G> A (p.Thr731=) single nucleotide variant Likely benign rs6413501 GRCh37 Chromosome 19, 7152775: 7152775
33 INSR NM_000208.3(INSR): c.2193G> A (p.Thr731=) single nucleotide variant Likely benign rs6413501 GRCh38 Chromosome 19, 7152764: 7152764
34 INSR NM_000208.3(INSR): c.3255C> T (p.His1085=) single nucleotide variant Benign rs1799817 GRCh37 Chromosome 19, 7125297: 7125297
35 INSR NM_000208.3(INSR): c.3255C> T (p.His1085=) single nucleotide variant Benign rs1799817 GRCh38 Chromosome 19, 7125286: 7125286
36 INSR NM_000208.3(INSR): c.3193C> G (p.Leu1065Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56395521 GRCh37 Chromosome 19, 7125359: 7125359
37 INSR NM_000208.3(INSR): c.3193C> G (p.Leu1065Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56395521 GRCh38 Chromosome 19, 7125348: 7125348
38 INSR NM_000208.3(INSR): c.190T> C (p.Leu64=) single nucleotide variant Conflicting interpretations of pathogenicity rs144836032 GRCh37 Chromosome 19, 7267818: 7267818
39 INSR NM_000208.3(INSR): c.190T> C (p.Leu64=) single nucleotide variant Conflicting interpretations of pathogenicity rs144836032 GRCh38 Chromosome 19, 7267807: 7267807
40 INSR NM_000208.3(INSR): c.1650G> A (p.Ala550=) single nucleotide variant Benign rs2059806 GRCh37 Chromosome 19, 7166376: 7166376
41 INSR NM_000208.3(INSR): c.1650G> A (p.Ala550=) single nucleotide variant Benign rs2059806 GRCh38 Chromosome 19, 7166365: 7166365
42 INSR NM_000208.3(INSR): c.2838C> G (p.Asp946Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146588336 GRCh38 Chromosome 19, 7132162: 7132162
43 INSR NM_000208.3(INSR): c.2838C> G (p.Asp946Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146588336 GRCh37 Chromosome 19, 7132173: 7132173
44 INSR NM_000208.3(INSR): c.2243C> T (p.Ser748Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs143523271 GRCh37 Chromosome 19, 7150532: 7150532
45 INSR NM_000208.3(INSR): c.2243C> T (p.Ser748Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs143523271 GRCh38 Chromosome 19, 7150521: 7150521
46 INSR NM_000208.3(INSR): c.1080C> T (p.Cys360=) single nucleotide variant Conflicting interpretations of pathogenicity rs56066516 GRCh38 Chromosome 19, 7174626: 7174626
47 INSR NM_000208.3(INSR): c.1080C> T (p.Cys360=) single nucleotide variant Conflicting interpretations of pathogenicity rs56066516 GRCh37 Chromosome 19, 7174637: 7174637
48 INSR NM_000208.3(INSR): c.687C> T (p.Thr229=) single nucleotide variant Likely benign rs150568177 GRCh38 Chromosome 19, 7184603: 7184603
49 INSR NM_000208.3(INSR): c.687C> T (p.Thr229=) single nucleotide variant Likely benign rs150568177 GRCh37 Chromosome 19, 7184614: 7184614
50 INSR NM_000208.3(INSR): c.653-5_653-4dupTC duplication Benign rs780601620 GRCh37 Chromosome 19, 7184652: 7184653

Expression for Donohue Syndrome

Search GEO for disease gene expression data for Donohue Syndrome.

Pathways for Donohue Syndrome

Pathways related to Donohue Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Adherens junction hsa04520
2 Insulin signaling pathway hsa04910
3 Type II diabetes mellitus hsa04930
4 Aldosterone-regulated sodium reabsorption hsa04960

Pathways related to Donohue Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 EGF IGF1 IGF1R INS INSR
2
Show member pathways
13.58 AURKA EGF IGF1 IGF1R INSR
3
Show member pathways
13.29 EGF IGF1 IGF1R INS INSR
4
Show member pathways
13.17 EGF IGF1 IGF1R INSR
5
Show member pathways
13.08 EGF IGF1 IGF1R INSR
6
Show member pathways
13.04 EGF IGF1 IGF1R INSR
7
Show member pathways
12.83 EGF IGF1 IGF1R INS INSR
8
Show member pathways
12.78 AURKA IGF1 IGF1R INSR
9
Show member pathways
12.73 EGF IGF1 IGF1R INS INSR
10
Show member pathways
12.67 EGF IGF1 IGF1R INS
11 12.62 EGF IGF1 IGF1R
12
Show member pathways
12.6 EGF IGF1 IGF1R INS INSR
13
Show member pathways
12.57 EGF IGF1 IGF1R
14
Show member pathways
12.56 EGF IGF1 IGF1R
15
Show member pathways
12.52 EGF INS INSR
16 12.39 EGF IGF1 IGF1R INS INSR
17
Show member pathways
12.38 EGF IGF1 IGF1R
18 12.34 IGF1R INS INSR
19
Show member pathways
12.34 IGF1 IGF1R INS INSR
20
Show member pathways
12.33 IGF1R INS INSR
21
Show member pathways
12.3 EGF IGF1 IGF1R INS INSR
22
Show member pathways
12.28 IGF1 IGF1R INS INSR
23
Show member pathways
12.22 EGF INS INSR
24
Show member pathways
12.2 EGF IGF1 IGF1R INSR
25
Show member pathways
12.16 AURKA IGF1 IGF1R INS
26
Show member pathways
12.1 EGF IGF1 IGF1R INSR
27
Show member pathways
12.02 EGF IGF1 IGF1R
28 11.98 EGF IGF1R INSR
29
Show member pathways
11.97 EGF IGF1 IGF1R
30 11.92 EGF IGF1 INS
31
Show member pathways
11.88 IGF1R INS INSR
32
Show member pathways
11.85 IGF1 IGF1R INS INSR
33 11.82 EGF IGF1 IGF1R
34 11.79 IGF1 IGF1R INS
35 11.62 EGF IGF1
36 11.58 IGF1R INSR
37 11.58 EGF IGF1 IGF1R INSR
38 11.53 INS INSR
39 11.52 IGF1 IGF1R
40 11.5 EGF IGF1
41 11.49 IGF1 IGF1R
42
Show member pathways
11.49 EGF IGF1 IGF1R INS INSR
43 11.48 IGF1 IGF1R
44 11.43 INS INSR
45 11.43 EGF INS INSR
46 11.42 IGF1 INS
47 11.39 EGF IGF1 INS
48 11.37 AURKA IGF1 IGF1R
49 11.34 IGF1R INSR
50 11.32 INS INSR

GO Terms for Donohue Syndrome

Cellular components related to Donohue Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 9.33 EGF IGF1R INSR
2 platelet alpha granule lumen GO:0031093 9.26 EGF IGF1
3 insulin receptor complex GO:0005899 8.96 IGF1R INSR
4 alphav-beta3 integrin-IGF-1-IGF1R complex GO:0035867 8.62 IGF1 IGF1R

Biological processes related to Donohue Syndrome according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.87 AURKA IGF1 IGF1R INSR
2 positive regulation of gene expression GO:0010628 9.81 EGF IGF1 INS
3 peptidyl-tyrosine phosphorylation GO:0018108 9.77 EGF IGF1R INSR
4 protein autophosphorylation GO:0046777 9.77 AURKA IGF1R INSR
5 positive regulation of protein kinase B signaling GO:0051897 9.76 EGF INS INSR
6 positive regulation of MAPK cascade GO:0043410 9.72 IGF1 INS INSR
7 positive regulation of cell proliferation GO:0008284 9.72 EGF IGF1 IGF1R INS INSR
8 activation of MAPK activity GO:0000187 9.69 EGF IGF1 INSR
9 glucose homeostasis GO:0042593 9.67 IGF1R INS INSR
10 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.64 IGF1 INS
11 phosphatidylinositol-mediated signaling GO:0048015 9.63 IGF1 IGF1R
12 phosphatidylinositol 3-kinase signaling GO:0014065 9.63 IGF1 IGF1R
13 insulin receptor signaling pathway GO:0008286 9.63 IGF1R INS INSR
14 peptidyl-tyrosine autophosphorylation GO:0038083 9.62 IGF1R INSR
15 cellular response to amyloid-beta GO:1904646 9.62 IGF1 IGF1R
16 positive regulation of DNA binding GO:0043388 9.61 EGF IGF1
17 ERK1 and ERK2 cascade GO:0070371 9.61 EGF IGF1
18 insulin-like growth factor receptor signaling pathway GO:0048009 9.58 IGF1 IGF1R
19 activation of protein kinase B activity GO:0032148 9.58 IGF1 INS INSR
20 amyloid-beta clearance GO:0097242 9.56 IGF1R INSR
21 dendritic spine maintenance GO:0097062 9.54 IGF1R INSR
22 positive regulation of glucose import GO:0046326 9.54 IGF1 INS INSR
23 neuron projection maintenance GO:1990535 9.52 INS INSR
24 positive regulation of respiratory burst GO:0060267 9.48 INS INSR
25 positive regulation of protein complex disassembly GO:0043243 9.43 IGF1R INSR
26 positive regulation of glycolytic process GO:0045821 9.43 IGF1 INS INSR
27 positive regulation of cell migration GO:0030335 9.35 EGF IGF1 IGF1R INS INSR
28 positive regulation of glycogen biosynthetic process GO:0045725 9.33 IGF1 INS INSR
29 positive regulation of mitotic nuclear division GO:0045840 9.02 AURKA EGF IGF1 INS INSR

Molecular functions related to Donohue Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.58 EGF IGF1R INSR
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.46 IGF1R INSR
3 phosphatidylinositol 3-kinase binding GO:0043548 9.43 IGF1R INSR
4 insulin receptor substrate binding GO:0043560 9.37 IGF1R INSR
5 insulin-like growth factor I binding GO:0031994 9.32 IGF1R INSR
6 insulin binding GO:0043559 9.26 IGF1R INSR
7 insulin-activated receptor activity GO:0005009 9.16 IGF1R INSR
8 insulin receptor binding GO:0005158 9.13 IGF1 IGF1R INS
9 insulin-like growth factor receptor binding GO:0005159 8.8 IGF1 INS INSR

Sources for Donohue Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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