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MCID: DNH001
MIFTS: 59

Donohue Syndrome

Categories: Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Donohue Syndrome

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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:

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


Sources

Summaries for Donohue Syndrome

About this section
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 diabetes mellitus, noninsulin-dependent, 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 ovary, and related phenotypes are hypertelorism and inguinal hernia

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.

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.

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

Description from OMIM: 246200
Sources

Related Diseases for Donohue Syndrome

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

(show all 46)
# Related Disease Score Top Affiliating Genes
1 microvascular complications of diabetes 5 29.7 IGF1 INS
2 diabetes mellitus, noninsulin-dependent 28.5 IGF1 IGF1R INS INSR
3 patterson pseudoleprechaunism syndrome 11.0
4 insulin autoimmune syndrome 10.4 INS INSR
5 fasting hypoglycemia 10.3 IGF1 INSR
6 hyperinsulinemic hypoglycemia 10.3 INS INSR
7 secondary adrenal insufficiency 10.2 IGF1 INS
8 sheehan syndrome 10.2 IGF1 INS
9 hyperpituitarism 10.2 IGF1 INS
10 rubeosis iridis 10.2 IGF1 INS
11 endocrine pancreas disease 10.2 IGF1 INS
12 pancreas disease 10.2 IGF1 INS
13 anovulation 10.2 IGF1 INS
14 thyroid gland disease 10.2 IGF1 INS
15 spinal chordoma 10.1 IGF1R INSR
16 pituitary gland disease 10.1 IGF1 INS
17 gonadal disease 10.1 IGF1 INS
18 retinal vascular disease 10.1 IGF1 INS
19 cell type benign neoplasm 10.1 IGF1 INS
20 craniopharyngioma 10.1 IGF1 INS
21 hypopituitarism 10.0 IGF1 INS
22 sleep apnea 10.0 IGF1 INS
23 growth hormone deficiency 10.0
24 overnutrition 10.0 IGF1 INS
25 atypical teratoid rhabdoid tumor 10.0 AURKA IGF1R
26 glucose metabolism disease 9.9 IGF1 INS
27 patent ductus arteriosus 1 9.8
28 leptin deficiency or dysfunction 9.8
29 hypertrophic cardiomyopathy 9.8
30 pancreatitis 9.8
31 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 9.8 IGF1 INS INSR
32 fetal macrosomia 9.8 IGF1 INS INSR
33 hyperandrogenism 9.8 IGF1 INS INSR
34 glucose intolerance 9.8 IGF1 INS INSR
35 hyperinsulinism 9.8 IGF1 INS INSR
36 polycystic ovary syndrome 9.8 IGF1 INS INSR
37 hyperglycemia 9.8 IGF1 INS INSR
38 short bowel syndrome 9.7 EGF IGF1
39 acquired metabolic disease 9.7 IGF1 INS
40 body mass index quantitative trait locus 11 9.4 IGF1 INS INSR
41 acromegaly 9.4 IGF1 INS
42 acanthosis nigricans 9.1 IGF1 IGF1R INS INSR
43 glioblastoma multiforme 9.1 EGF IGF1 IGF1R
44 ewing sarcoma 9.0 IGF1 IGF1R INS
45 endometrial cancer 8.5 EGF IGF1 IGF1R INS
46 insulin-like growth factor i 8.1 EGF IGF1 IGF1R INS INSR

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



Diseases related to Donohue Syndrome
Sources

Symptoms & Phenotypes for Donohue Syndrome

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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

GenitourinaryInternal GenitaliaMale:
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 IGF1R AURKA INSR
3 Decreased viability GR00221-A-2 10.49 IGF1R AURKA 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 INSR IGF1R
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 INSR IGF1R
14 Increased cell death HMECs cells GR00103-A-0 9.46 AURKA INS INSR IGF1R
15 Increased cell viability after pRB stimulation GR00230-A-1 9.13 AURKA INSR IGF1R
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 9.62 IGF1 IGF1R INS INSR
2 digestive/alimentary MP:0005381 9.56 EGF IGF1R INS INSR
3 endocrine/exocrine gland MP:0005379 9.55 EGF IGF1 IGF1R INS INSR
4 growth/size/body region MP:0005378 9.43 AURKA EGF IGF1 IGF1R INS INSR
5 reproductive system MP:0005389 9.02 EGF IGF1 IGF1R INS INSR
Sources

Drugs & Therapeutics for Donohue Syndrome

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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

Sources

Genetic Tests for Donohue Syndrome

About this section

Genetic tests related to Donohue Syndrome:

# Genetic test Affiliating Genes
1 Leprechaunism Syndrome 29 INSR
Sources

Anatomical Context for Donohue Syndrome

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MalaCards organs/tissues related to Donohue Syndrome:

41
Skin, Breast, Ovary, Skeletal Muscle, Thymus, Pancreatic Islet, Tonsil
Sources

Publications for Donohue Syndrome

About this section

Articles related to Donohue Syndrome:

(show all 32)
# 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
Areolar sebaceous hyperplasia with underlying primary duct carcinoma of the breast in a woman with Donohue syndrome (leprechaunism). ( 22172957 )
2012
23
Sustained regression of florid diabetic retinopathy in a patient with Donohue syndrome (leprechaunism). ( 19882513 )
2010
24
Donohue syndrome in a neonate with homozygous deletion of exon 3 of the insulin receptor gene. ( 19774849 )
2009
25
Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome. ( 9703342 )
1998
26
Leprechaunism/Donohue syndrome/insulin receptor gene mutations: a syndrome delineation story from clinicopathological description to molecular understanding. ( 9128805 )
1997
27
Glomerulopathy in patient with Donohue syndrome (leprechaunism). ( 1711953 )
1991
28
Phenotypic expression in Donohue syndrome (leprechaunism): a role for epidermal growth factor. ( 3875706 )
1985
29
Diagnostic criteria in leprechaunism (Donohue syndrome). ( 7450836 )
1980
30
Leprechaunism (Donohue syndrome): a case with growth hormone deficiency. ( 546031 )
1979
31
Leprechaunism (Donohue syndrome). A case with growth hormone deficiency. ( 546030 )
1979
32
Leprechaunism (Donohue syndrome). ( 4131563 )
1973
Sources

Variations for Donohue Syndrome

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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 345)
# 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.164T> C (p.Val55Ala) single nucleotide variant Pathogenic rs121913152 GRCh37 Chromosome 19, 7267844: 7267844
16 INSR NM_000208.3(INSR): c.164T> C (p.Val55Ala) single nucleotide variant Pathogenic rs121913152 GRCh38 Chromosome 19, 7267833: 7267833
17 INSR NM_000208.3(INSR): c.338G> C (p.Arg113Pro) single nucleotide variant Pathogenic rs121913153 GRCh37 Chromosome 19, 7267670: 7267670
18 INSR NM_000208.3(INSR): c.338G> C (p.Arg113Pro) single nucleotide variant Pathogenic rs121913153 GRCh38 Chromosome 19, 7267659: 7267659
19 INSR NM_000208.3(INSR): c.442A> T (p.Lys148Ter) single nucleotide variant Pathogenic rs121913155 GRCh37 Chromosome 19, 7267566: 7267566
20 INSR NM_000208.3(INSR): c.442A> T (p.Lys148Ter) single nucleotide variant Pathogenic rs121913155 GRCh38 Chromosome 19, 7267555: 7267555
21 INSR NC_000019.10: g.(?_7112255)_(7249328_?)del deletion Pathogenic GRCh38 Chromosome 19, 7112255: 7249328
22 INSR NM_000208.3(INSR): c.1316G> C (p.Trp439Ser) single nucleotide variant Pathogenic rs121913158 GRCh37 Chromosome 19, 7170715: 7170715
23 INSR NM_000208.3(INSR): c.1316G> C (p.Trp439Ser) single nucleotide variant Pathogenic rs121913158 GRCh38 Chromosome 19, 7170704: 7170704
24 INSR NM_000208.3(INSR): c.438C> G (p.Ile146Met) single nucleotide variant Pathogenic rs121913159 GRCh37 Chromosome 19, 7267570: 7267570
25 INSR NM_000208.3(INSR): c.438C> G (p.Ile146Met) single nucleotide variant Pathogenic rs121913159 GRCh38 Chromosome 19, 7267559: 7267559
26 INSR NM_000208.3(INSR): c.1372A> G (p.Asn458Asp) single nucleotide variant Pathogenic rs121913160 GRCh37 Chromosome 19, 7170659: 7170659
27 INSR NM_000208.3(INSR): c.1372A> G (p.Asn458Asp) single nucleotide variant Pathogenic rs121913160 GRCh38 Chromosome 19, 7170648: 7170648
28 INSR NM_000208.3(INSR): c.5C> G (p.Ala2Gly) single nucleotide variant Benign rs7508518 GRCh37 Chromosome 19, 7293898: 7293898
29 INSR NM_000208.3(INSR): c.5C> G (p.Ala2Gly) single nucleotide variant Benign rs7508518 GRCh38 Chromosome 19, 7293887: 7293887
30 INSR NM_000208.3(INSR): c.2193G> A (p.Thr731=) single nucleotide variant Likely benign rs6413501 GRCh37 Chromosome 19, 7152775: 7152775
31 INSR NM_000208.3(INSR): c.2193G> A (p.Thr731=) single nucleotide variant Likely benign rs6413501 GRCh38 Chromosome 19, 7152764: 7152764
32 INSR NM_000208.3(INSR): c.3255C> T (p.His1085=) single nucleotide variant Benign rs1799817 GRCh37 Chromosome 19, 7125297: 7125297
33 INSR NM_000208.3(INSR): c.3255C> T (p.His1085=) single nucleotide variant Benign rs1799817 GRCh38 Chromosome 19, 7125286: 7125286
34 INSR NM_000208.3(INSR): c.3193C> G (p.Leu1065Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56395521 GRCh37 Chromosome 19, 7125359: 7125359
35 INSR NM_000208.3(INSR): c.3193C> G (p.Leu1065Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56395521 GRCh38 Chromosome 19, 7125348: 7125348
36 INSR NM_000208.3(INSR): c.190T> C (p.Leu64=) single nucleotide variant Conflicting interpretations of pathogenicity rs144836032 GRCh37 Chromosome 19, 7267818: 7267818
37 INSR NM_000208.3(INSR): c.190T> C (p.Leu64=) single nucleotide variant Conflicting interpretations of pathogenicity rs144836032 GRCh38 Chromosome 19, 7267807: 7267807
38 INSR NM_000208.3(INSR): c.1650G> A (p.Ala550=) single nucleotide variant Benign rs2059806 GRCh37 Chromosome 19, 7166376: 7166376
39 INSR NM_000208.3(INSR): c.1650G> A (p.Ala550=) single nucleotide variant Benign rs2059806 GRCh38 Chromosome 19, 7166365: 7166365
40 INSR NM_000208.3(INSR): c.2838C> G (p.Asp946Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146588336 GRCh38 Chromosome 19, 7132162: 7132162
41 INSR NM_000208.3(INSR): c.2838C> G (p.Asp946Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146588336 GRCh37 Chromosome 19, 7132173: 7132173
42 INSR NM_000208.3(INSR): c.2243C> T (p.Ser748Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs143523271 GRCh37 Chromosome 19, 7150532: 7150532
43 INSR NM_000208.3(INSR): c.2243C> T (p.Ser748Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs143523271 GRCh38 Chromosome 19, 7150521: 7150521
44 INSR NM_000208.3(INSR): c.1080C> T (p.Cys360=) single nucleotide variant Conflicting interpretations of pathogenicity rs56066516 GRCh38 Chromosome 19, 7174626: 7174626
45 INSR NM_000208.3(INSR): c.1080C> T (p.Cys360=) single nucleotide variant Conflicting interpretations of pathogenicity rs56066516 GRCh37 Chromosome 19, 7174637: 7174637
46 INSR NM_000208.3(INSR): c.687C> T (p.Thr229=) single nucleotide variant Likely benign rs150568177 GRCh38 Chromosome 19, 7184603: 7184603
47 INSR NM_000208.3(INSR): c.687C> T (p.Thr229=) single nucleotide variant Likely benign rs150568177 GRCh37 Chromosome 19, 7184614: 7184614
48 INSR NM_000208.3(INSR): c.653-5_653-4dupTC duplication Benign rs780601620 GRCh37 Chromosome 19, 7184652: 7184653
49 INSR NM_000208.3(INSR): c.653-5_653-4dupTC duplication Benign rs780601620 GRCh38 Chromosome 19, 7184641: 7184642
50 INSR NM_000208.3(INSR): c.41T> C (p.Leu14Pro) single nucleotide variant Uncertain significance rs745857330 GRCh37 Chromosome 19, 7293862: 7293862
Sources

Expression for Donohue Syndrome

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Search GEO for disease gene expression data for Donohue Syndrome.
Sources

Pathways for Donohue Syndrome

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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 56)
# Super pathways Score Top Affiliating Genes
1
Apoptotic Pathways in Synovial Fibroblasts 64
Show member pathways
 13.59 EGF IGF1 IGF1R INS INSR
2
ERK Signaling 64
Show member pathways
 13.57 AURKA EGF IGF1 IGF1R INSR
3
TGF-Beta Pathway 64
Show member pathways
 13.25 EGF IGF1 IGF1R INS INSR
4
Akt Signaling 64
Show member pathways
 13.16 EGF IGF1 IGF1R INSR
5
CREB Pathway 64
Show member pathways
 13.07 EGF IGF1 IGF1R INSR
6
Nanog in Mammalian ESC Pluripotency 64
Show member pathways
 13.02 EGF IGF1 IGF1R INSR
7
p70S6K Signaling 64
Show member pathways
 12.83 EGF IGF1 IGF1R INS INSR
8
PI3K-Akt signaling pathway 37
Show member pathways
 12.72 EGF IGF1 IGF1R INS INSR
9
Endometrial cancer 37
Show member pathways
 12.66 EGF IGF1 IGF1R INS
10
Regulation of lipid metabolism Insulin signaling-generic cascades 22
Show member pathways
 12.6 EGF IGF1 IGF1R INS INSR
11
ErbB4 Pathway 64
Show member pathways
 12.57 EGF IGF1 IGF1R
12
Glioma 37
Show member pathways
 12.56 EGF IGF1 IGF1R
13
Gastric cancer 37
Show member pathways
 12.55 EGF IGF1 IGF1R
14
Downstream signaling events of B Cell Receptor (BCR) 66
Show member pathways
 12.51 EGF INS INSR
15
MAPK signaling pathway 1 37
12.39 EGF IGF1 IGF1R INS INSR
16
Development Dopamine D2 receptor transactivation of EGFR 22
Show member pathways
 12.36 EGF IGF1 IGF1R
17
mTOR signaling pathway (KEGG) 65
Show member pathways
 12.34 IGF1 IGF1R INS INSR
18
Glucose / Energy Metabolism 4
12.32 IGF1R INS INSR
19
Angiopoietin Like Protein 8 Regulatory Pathway 1
Show member pathways
 12.31 IGF1R INS INSR
20
Ras signaling pathway 37
Show member pathways
 12.3 EGF IGF1 IGF1R INS INSR
21
AMP-activated Protein Kinase (AMPK) Signaling 1
Show member pathways
 12.28 IGF1 IGF1R INS INSR
22
Phospholipase D signaling pathway 37
Show member pathways
 12.21 EGF INS INSR
23
Oocyte meiosis 37
Show member pathways
 12.16 AURKA IGF1 IGF1R INS
24
Development Ligand-independent activation of ESR1 and ESR2 22
Show member pathways
 12.1 EGF IGF1 IGF1R INSR
25
MicroRNAs in cardiomyocyte hypertrophy 1
Show member pathways
 12.01 EGF IGF1 IGF1R
26
Tyrosine Kinases / Adaptors 4
11.97 EGF IGF1R INSR
27
Transcription Androgen Receptor nuclear signaling 22
Show member pathways
 11.96 EGF IGF1 IGF1R
28
MAPK Signaling: Mitogen Stimulation Pathway 65
Show member pathways
 11.9 IGF1R INSR
29
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.9 EGF IGF1 INS
30
Hepatic ABC Transporters 64
Show member pathways
 11.87 IGF1R INS INSR
31
Longevity regulating pathway 37
Show member pathways
 11.85 IGF1 IGF1R INS INSR
32
Glioblastoma Multiforme 64
11.81 EGF IGF1 IGF1R
33
Senescence and Autophagy in Cancer 1
11.79 IGF1 IGF1R INS
34
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.62 EGF IGF1
35
Adherens junction 37
11.57 IGF1R INSR
36
AGE/RAGE pathway 1
11.52 INS INSR
37
Endochondral Ossification 1
11.51 IGF1 IGF1R
38
Lung fibrosis 1
11.49 EGF IGF1
39
FoxO signaling pathway 37
Show member pathways
 11.49 EGF IGF1 IGF1R INS INSR
40
Cell adhesion_ECM remodeling 22
11.48 IGF1 IGF1R
41
Long-term depression 37
11.47 IGF1 IGF1R
42
Signaling events mediated by PTP1B 1
11.43 EGF INS INSR
43
Regulation of lipolysis in adipocytes 37
11.41 INS INSR
44
Cardiac Progenitor Differentiation 1
11.4 IGF1 INS
45
Differentiation Pathway 1
11.39 EGF IGF1 INS
46
Cytoskeleton remodeling_RalA regulation pathway 22
11.36 AURKA IGF1 IGF1R
47
Alzheimers Disease Pathway 64
11.33 IGF1R INSR
48
Signaling events mediated by TCPTP 1
Show member pathways
 11.32 EGF INS INSR
49
Insulin Pathway 1
11.3 INS INSR
50
Stabilization and expansion of the E-cadherin adherens junction 1
11.26 EGF IGF1R
Sources

GO Terms for Donohue Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 platelet alpha granule lumen GO:0031093 9.16 EGF IGF1
2 receptor complex GO:0043235 9.13 EGF IGF1R INSR
3 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 36)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.85 AURKA IGF1 IGF1R INS INSR
2 positive regulation of gene expression GO:0010628 9.83 EGF IGF1 INS
3 positive regulation of cell proliferation GO:0008284 9.83 EGF IGF1 IGF1R INS INSR
4 protein autophosphorylation GO:0046777 9.79 AURKA IGF1R INSR
5 peptidyl-tyrosine phosphorylation GO:0018108 9.78 EGF IGF1R INSR
6 positive regulation of protein kinase B signaling GO:0051897 9.77 EGF INS INSR
7 glucose homeostasis GO:0042593 9.74 IGF1 INS INSR
8 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.73 EGF IGF1 INS
9 positive regulation of MAPK cascade GO:0043410 9.71 IGF1 IGF1R INS INSR
10 insulin receptor signaling pathway GO:0008286 9.7 IGF1R INS INSR
11 response to glucose GO:0009749 9.67 IGF1 INS
12 response to insulin GO:0032868 9.67 IGF1 INS
13 activation of protein kinase B activity GO:0032148 9.67 IGF1 INS INSR
14 positive regulation of kinase activity GO:0033674 9.66 IGF1R INSR
15 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.66 IGF1 INS
16 response to nutrient levels GO:0031667 9.65 IGF1 INS
17 peptidyl-tyrosine autophosphorylation GO:0038083 9.65 IGF1R INSR
18 positive regulation of glucose import GO:0046326 9.65 IGF1 INS INSR
19 phosphatidylinositol-mediated signaling GO:0048015 9.64 IGF1 IGF1R
20 phosphatidylinositol 3-kinase signaling GO:0014065 9.64 IGF1 IGF1R
21 cellular response to amyloid-beta GO:1904646 9.63 IGF1 IGF1R
22 ERK1 and ERK2 cascade GO:0070371 9.63 EGF IGF1
23 positive regulation of DNA binding GO:0043388 9.62 EGF IGF1
24 positive regulation of insulin receptor signaling pathway GO:0046628 9.62 IGF1 INS
25 activation of MAPK activity GO:0000187 9.62 EGF IGF1 INS INSR
26 insulin-like growth factor receptor signaling pathway GO:0048009 9.59 IGF1 IGF1R
27 amyloid-beta clearance GO:0097242 9.58 IGF1R INSR
28 dendritic spine maintenance GO:0097062 9.58 IGF1R INSR
29 positive regulation of respiratory burst GO:0060267 9.55 INS INSR
30 positive regulation of cell migration GO:0030335 9.55 EGF IGF1 IGF1R INS INSR
31 neuron projection maintenance GO:1990535 9.54 INS INSR
32 positive regulation of glycolytic process GO:0045821 9.54 IGF1 INS INSR
33 positive regulation of protein complex disassembly GO:0043243 9.51 IGF1R INSR
34 positive regulation of glycogen biosynthetic process GO:0045725 9.43 IGF1 INS INSR
35 positive regulation of DNA replication GO:0045740 9.26 IGF1 IGF1R INS INSR
36 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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.58 EGF IGF1R INSR
2 MAP kinase kinase kinase activity GO:0004709 9.49 IGF1R INSR
3 mitogen-activated protein kinase kinase binding GO:0031434 9.48 IGF1R INSR
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.46 IGF1R INSR
5 phosphatidylinositol 3-kinase binding GO:0043548 9.43 IGF1R INSR
6 insulin-like growth factor I binding GO:0031994 9.37 IGF1R INSR
7 insulin receptor substrate binding GO:0043560 9.32 IGF1R INSR
8 receptor activator activity GO:0030546 9.26 IGF1 INS
9 insulin binding GO:0043559 9.16 IGF1R INSR
10 insulin receptor binding GO:0005158 9.13 IGF1 IGF1R INS
11 insulin-like growth factor receptor binding GO:0005159 8.8 IGF1 INS INSR
Sources

Sources for Donohue Syndrome

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