LEPRCH
MCID: DNH001
MIFTS: 61

Donohue Syndrome (LEPRCH)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Donohue Syndrome

MalaCards integrated aliases for Donohue Syndrome:

Name: Donohue Syndrome 57 11 19 42 58 73 43 14 71 75
Leprechaunism 57 11 19 42 58 75 73 12 53 38
Leprechaunism Syndrome 42 28 5
Donohue's Syndrome 42
Leprch 73

Characteristics:


Inheritance:

Donohue Syndrome: Autosomal recessive 57
Leprechaunism: Autosomal recessive 58

Prevelance:

Leprechaunism: <1/1000000 (Europe) 58

Age Of Onset:

Leprechaunism: Antenatal,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
death often in early infancy


Classifications:

Orphanet: 58  
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Donohue Syndrome

MedlinePlus Genetics: 42 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.Severe insulin resistance underlies the varied signs and symptoms of Donohue syndrome. Individuals with Donohue syndrome are unusually small starting before birth, and affected infants experience failure to thrive, which means they do not grow and gain weight at the expected rate. Additional features that become apparent soon after birth include a lack of fatty tissue under the skin (subcutaneous fat); wasting (atrophy) of muscles; 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 Donohue syndrome include bulging eyes, thick lips, upturned nostrils, and low-set ears. Affected individuals develop recurrent, life-threatening infections beginning in infancy.Donohue syndrome is one of a group of related conditions described as inherited severe insulin resistance syndromes. These disorders, which also include Rabson-Mendenhall syndrome and type A insulin resistance syndrome, are considered part of a spectrum. Donohue syndrome represents the most severe end of the spectrum; most children with this condition do not survive beyond age 2.

MalaCards based summary: Donohue Syndrome, also known as leprechaunism, is related to pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities and hypertrichosis, 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 ERK Signaling and Signal Transduction. Affiliated tissues include skin, heart and pancreatic islet, and related phenotypes are hyperkeratosis and postnatal growth retardation

GARD: 19 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 genetic changes in the insulin receptor gene (INSR) gene. It is inherited in an autosomal recessive manner.

Orphanet: 58 Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

Disease Ontology: 11 A syndrome 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.

UniProtKB/Swiss-Prot: 73 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: 75 Donohue syndrome (also known as leprechaunism) is an extremely rare and severe genetic disorder.... more...

More information 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 187)
# Related Disease Score Top Affiliating Genes
1 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 32.7 INSR INS IGF1
2 hypertrichosis 30.8 INSR INS BSCL2
3 hyperandrogenism 30.4 INSR INS IGF1
4 marasmus 29.8 LEP INS IGF1
5 hyperinsulinemic hypoglycemia 29.8 INSR INS GCK
6 acanthosis nigricans 29.5 TBC1D4 LEP INSR INS IGF1R IGF1
7 hypoglycemia 29.3 LEP INSR INS IGF1 GCK AKT2
8 leptin deficiency or dysfunction 29.3 LEP IRS2 IRS1 INS IGF1
9 polycystic ovary syndrome 29.2 LEP IRS2 IRS1 INSR INS IGF1
10 glucose intolerance 29.2 LEP IRS1 INSR INS IGF1 GCK
11 endometrial cancer 29.0 LEP INS IGF1R IGF1 EGF AKT2
12 insulin-like growth factor i 28.9 LEP IRS2 IRS1 INSR INS IGF1R
13 hyperinsulinism 28.7 TBC1D4 LEP IRS2 IRS1 INSR INS
14 hyperglycemia 28.5 LEP IRS2 IRS1 INSR INS IGF1R
15 maturity-onset diabetes of the young 28.2 LEP IRS2 IRS1 INSR INS GCK
16 breast cancer 27.6 LEP IRS2 IRS1 INSR INS IGF1R
17 type 2 diabetes mellitus 27.0 TBC1D4 LEP IRS2 IRS1 INSR INS
18 patterson pseudoleprechaunism syndrome 11.0
19 diabetes mellitus, insulin-resistant, with acanthosis nigricans 11.0
20 hypertrophic cardiomyopathy 10.4
21 cardiomyopathy, familial hypertrophic, 1 10.3
22 insr-related severe syndromic insulin resistance 10.3
23 retroperitoneal hemangiopericytoma 10.3 INS IGF1
24 acidophil adenoma 10.3 INS IGF1
25 ulcer of lower limbs 10.3 INS IGF1
26 pituitary infarct 10.3 INS IGF1
27 sheehan syndrome 10.3 INS IGF1
28 hypothalamic disease 10.3 INS IGF1
29 potter's syndrome 10.2 INS IGF1
30 berardinelli-seip congenital lipodystrophy 10.2 BSCL2 AGPAT2
31 cerebral meningioma 10.2 IGF1 EGF
32 adiposis dolorosa 10.2 BSCL2 AGPAT2
33 diffuse idiopathic skeletal hyperostosis 10.2 INS IGF1
34 lipodystrophy, congenital generalized, type 4 10.2 BSCL2 AGPAT2
35 lipodystrophy, congenital generalized, type 3 10.2 BSCL2 AGPAT2
36 lipodystrophy, congenital generalized, type 1 10.2 BSCL2 AGPAT2
37 decubitus ulcer 10.2 INS IGF1 EGF
38 diabetic encephalopathy 10.2 IRS1 INS
39 craniopharyngioma 10.2 INS IGF1R IGF1
40 estrogen-receptor positive breast cancer 10.2 IGF1R IGF1 EGF
41 diencephalic astrocytoma 10.1 LEP INS
42 pituitary apoplexy 10.1 INS IGF1
43 cutis laxa 10.1
44 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.1 INS BSCL2 AGPAT2
45 colonic benign neoplasm 10.1 INS IGF1 EGF
46 mixed cell adenoma 10.1 IRS1 IGF1 EGF
47 premature ovarian failure 19 10.1 INS AKT2
48 prolactinoma 10.1 INS IGF1 EGF
49 hernia, hiatus 10.1 LEP INS
50 microvascular complications of diabetes 5 10.1

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



Diseases related to Donohue Syndrome

Symptoms & Phenotypes for Donohue Syndrome

Human phenotypes related to Donohue Syndrome:

58 30 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000962
2 postnatal growth retardation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008897
3 insulin resistance 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000855
4 severe intrauterine growth retardation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008846
5 postprandial hyperglycemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011998
6 reduced subcutaneous adipose tissue 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003758
7 fasting hypoglycemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003162
8 intellectual disability 58 30 Frequent (33%) Frequent (79-30%)
HP:0001249
9 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
HP:0001508
10 hepatomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002240
11 skeletal muscle atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0003202
12 hyperinsulinemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000842
13 hypertrophic cardiomyopathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0001639
14 severe global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0011344
15 acanthosis nigricans 58 30 Frequent (33%) Frequent (79-30%)
HP:0000956
16 enlarged kidney 58 30 Frequent (33%) Frequent (79-30%)
HP:0000105
17 long penis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000040
18 abdominal distention 58 30 Frequent (33%) Frequent (79-30%)
HP:0003270
19 clitoral hypertrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0008665
20 labial hypertrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0000065
21 facial hypertrichosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002219
22 overgrowth of external genitalia 58 30 Frequent (33%) Frequent (79-30%)
HP:0003247
23 prominent nipples 58 30 Frequent (33%) Frequent (79-30%)
HP:0004405
24 recurrent infantile hypoglycemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0004914
25 hypertelorism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000316
26 thick vermilion border 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012471
27 microcephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000252
28 hypokalemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002900
29 low-set ears 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000369
30 rectal prolapse 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002035
31 nephrocalcinosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000121
32 protruding ear 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000411
33 hyperaldosteronism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000859
34 hypercalciuria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002150
35 pointed chin 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000307
36 hyperextensible skin 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000974
37 wide nose 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000445
38 large hands 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001176
39 central hypothyroidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011787
40 long foot 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001833
41 increased circulating renin level 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000848
42 enlarged ovaries 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100879
43 megarectum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025024
44 axial hypotonia 30 Occasional (7.5%) HP:0008936
45 hypertrichosis 58 30 Very frequent (99-80%)
HP:0000998
46 precocious puberty 30 HP:0000826
47 delayed skeletal maturation 30 HP:0002750
48 gingival overgrowth 30 HP:0000212
49 macrotia 30 HP:0000400
50 thick lower lip vermilion 30 HP:0000179

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Endocrine Features:
precocious puberty
hyperinsulinemia

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

Abdomen Liver:
hepatic fibrosis
cholestasis

Skeletal Hands:
large hands

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

Skeletal Feet:
large feet

Skeletal:
delayed bone age

Skin Nails Hair Nails:
dysplastic nails

Genitourinary Internal Genitalia Male:
leydig cell hyperplasia

Genitourinary External Genitalia Female:
large clitoris

Head And Neck Nose:
wide nostrils

Genitourinary Internal Genitalia Female:
cystic ovaries

Neoplasia:
juvenile ovarian granulosa cell tumor

Skin Nails Hair Skin:
hyperkeratosis
acanthosis nigricans
pachyderma

Head And Neck Ears:
low-set ears
large ears

Head And Neck Face:
elfin facies
small face

Abdomen External Features:
abdominal distention

Chest Breasts:
prominent nipples
breast hyperplasia (female)

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

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

Abdomen Pancreas:
islets of langerhans hyperplasia

Skin Nails Hair Hair:
hypertrichosis (body, face)

Clinical features from OMIM®:

246200 (Updated 08-Dec-2022)

UMLS symptoms related to Donohue Syndrome:


elfin facies; female breast hyperplasia

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

25 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.95 AURKA
2 Decreased viability GR00055-A-2 10.95 AURKA
3 Decreased viability GR00221-A-1 10.95 AKT2 AURKA GCK INSR IGF1R IRS1
4 Decreased viability GR00221-A-2 10.95 AURKA GCK INSR IGF1R IRS1
5 Decreased viability GR00221-A-3 10.95 AKT2 GCK INSR IGF1R
6 Decreased viability GR00221-A-4 10.95 AKT2 AURKA GCK INSR
7 Decreased viability GR00231-A 10.95 AURKA
8 Decreased viability GR00249-S 10.95 AURKA
9 Decreased viability GR00301-A 10.95 AKT2 IGF1R
10 Decreased viability GR00342-S-2 10.95 IGF1R IRS1
11 Decreased viability GR00342-S-3 10.95 AKT2 IRS1
12 Decreased viability GR00386-A-1 10.95 IRS1
13 Decreased viability GR00402-S-2 10.95 AURKA IGF1R
14 Decreased substrate adherent cell growth GR00193-A-1 9.5 AKT2 AURKA IGF1R
15 Decreased substrate adherent cell growth GR00193-A-2 9.5 AKT2 AURKA
16 Decreased substrate adherent cell growth GR00193-A-3 9.5 AKT2
17 Decreased substrate adherent cell growth GR00193-A-4 9.5 IGF1R
18 Increased cell migration GR00055-A-3 8.85 GCK
19 Increased cell viability after pRB stimulation GR00230-A-1 8.8 AKT2 AURKA IGF1R

MGI Mouse Phenotypes related to Donohue Syndrome:

45 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.39 AGPAT2 AKT2 AURKA BAIAP2L1 BSCL2 EGF
2 homeostasis/metabolism MP:0005376 10.34 AGPAT2 AKT2 BAIAP2L1 BSCL2 GCK IGF1
3 endocrine/exocrine gland MP:0005379 10.34 AGPAT2 AKT2 AURKA BSCL2 EGF GCK
4 adipose tissue MP:0005375 10.28 AGPAT2 AKT2 BSCL2 IGF1 IGF1R INS
5 cellular MP:0005384 10.27 AGPAT2 AKT2 AURKA BSCL2 GCK IGF1
6 liver/biliary system MP:0005370 10.26 AGPAT2 AKT2 BSCL2 GCK IGF1R INS
7 muscle MP:0005369 10.22 AKT2 IGF1 IGF1R INS INSR IRS1
8 immune system MP:0005387 10.22 AGPAT2 AKT2 AURKA BSCL2 EGF IGF1
9 renal/urinary system MP:0005367 10.18 AGPAT2 BSCL2 GCK IGF1 INS INSR
10 cardiovascular system MP:0005385 10.17 BAIAP2L1 BSCL2 GCK IGF1 IGF1R INS
11 reproductive system MP:0005389 10.11 AKT2 AURKA BSCL2 EGF IGF1 IGF1R
12 limbs/digits/tail MP:0005371 10.09 AGPAT2 BAIAP2L1 BSCL2 IGF1 IGF1R IRS1
13 digestive/alimentary MP:0005381 10.02 AGPAT2 BSCL2 EGF IGF1R INS INSR
14 skeleton MP:0005390 10.02 AGPAT2 AKT2 AURKA BAIAP2L1 BSCL2 IGF1
15 hematopoietic system MP:0005397 9.93 AGPAT2 AKT2 AURKA BSCL2 GCK IGF1
16 vision/eye MP:0005391 9.91 AURKA BSCL2 EGF INS INSR IRS1
17 mortality/aging MP:0010768 9.8 AGPAT2 AKT2 AURKA BAIAP2L1 BSCL2 GCK
18 integument MP:0010771 9.28 AGPAT2 AKT2 BSCL2 EGF IGF1 IGF1R

Drugs & Therapeutics for Donohue Syndrome

Search Clinical Trials, 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 28 INSR

Anatomical Context for Donohue Syndrome

Organs/tissues related to Donohue Syndrome:

MalaCards : Skin, Heart, Pancreatic Islet, Skeletal Muscle, Tonsil, Breast, Thymus

Publications for Donohue Syndrome

Articles related to Donohue Syndrome:

(show top 50) (show all 288)
# Title Authors PMID Year
1
Homozygosity for a new mutation (Ile119-->Met) in the insulin receptor gene in five sibs with familial insulin resistance. 53 62 57 5
7815442 1994
2
A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents. 53 62 57 5
8326490 1993
3
Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. 53 62 5
12970295 2003
4
Genotype-phenotype correlation in inherited severe insulin resistance. 53 62 5
12023989 2002
5
A mutation in the insulin receptor that impairs proreceptor processing but not insulin binding. 53 62 5
8188715 1994
6
Reduced mRNA and a nonsense mutation in the insulin-receptor gene produce heritable severe insulin resistance. 53 62 5
1315125 1992
7
An Arg for Gly substitution at position 31 in the insulin receptor, linked to insulin resistance, inhibits receptor processing and transport. 53 62 5
1730625 1992
8
Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. 53 62 5
2365819 1990
9
A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction. 53 62 5
2300553 1990
10
Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 62 5
28765322 2017
11
Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. 62 5
27896077 2014
12
Leprechaunism and homozygous nonsense mutation in the insulin receptor gene. 62 57
8105179 1993
13
Homozygous deletion of the human insulin receptor gene results in leprechaunism. 62 5
7693131 1993
14
Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism. 62 5
8101305 1993
15
Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis. 62 5
1607067 1992
16
Substitution of arginine for histidine at position 209 in the alpha-subunit of the human insulin receptor. A mutation that impairs receptor dimerization and transport of receptors to the cell surface. 62 5
1657953 1991
17
Epidermal growth factor receptor defects in leprechaunism. A multiple growth factor-resistant syndrome. 62 57
2808704 1989
18
A leucine-to-proline mutation in the insulin receptor in a family with insulin resistance. 62 5
2479553 1989
19
Molecular defects in the insulin receptor in patients with leprechaunism and in their parents. 62 57
2569023 1989
20
Insulin receptor function in fibroblasts from patients with leprechaunism. Differential alterations in binding, autophosphorylation, kinase activity, and receptor-mediated internalization. 62 57
3049675 1988
21
Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance. 62 5
2834824 1988
22
Improper expression of insulin receptors on fibroblasts from a leprechaun patient. 62 5
3280314 1988
23
Leprechaunism: in vitro insulin action despite genetic insulin resistance. 62 57
3309859 1987
24
Structural analysis of normal and mutant insulin receptors in fibroblasts cultured from families with leprechaunism. 62 57
3631076 1987
25
[A rare polydysmorphic syndrome: leprechaunism. Review of 49 cases reported in the literature]. 62 57
3322162 1987
26
Leprechaunism: an inherited defect in a high-affinity insulin receptor. 62 57
3883764 1985
27
Fibroblasts from a patient with leprechaunism are resistant to insulin, epidermal growth factor, and somatomedin C. 62 57
6286709 1982
28
Hepatic ultrastructure in leprechaunism. Hepatic ultrastructural evidence suggesting a syndrome with defective hepatic glucose release. 62 57
7179734 1982
29
Qualitative abnormalities in insulin binding in a patient with extreme insulin resistance: decreased sensitivity to alterations in temperature and pH. 62 57
7031672 1981
30
Glucose kinetics in leprechaunism: accelerated fasting due to insulin resistance. 62 57
6999010 1980
31
A case of leprechaunism with severe hyperinsulinemia. 62 57
6986080 1980
32
Primary defect of insulin receptors in skin fibroblasts cultured from an infant with leprechaunism and insulin resistance. 62 57
293690 1979
33
Insulin resistance due to a defect distal to the insulin receptor: demonstration in a patient with leprechaunism. 62 57
277948 1978
34
Leprechaunism. A report of two new cases. 62 57
5129536 1971
35
[Clinical picture of congenital dysendocrinic disease or leprechaunism]. 62 57
4991281 1970
36
Leprechaunism (Donohue's syndrome): a case report. 62 57
4886189 1969
37
Metabolic and chromosomal studies in leprechaunism. 62 57
5844952 1965
38
DYSTROPHIC CHANGES ASSOCIATED WITH LEPRECHAUNISM IN A MALE INFANT. 62 57
14065999 1963
39
[Leprechaunism (Donohue syndrome)]. 62 57
13928153 1963
40
Leprechaunism in a male infant. 62 57
14484402 1962
41
Leprechaunism. 62 57
13275976 1955
42
Leprechaunism: a euphemism for a rare familial disorder. 62 57
13212592 1954
43
Activation of glucose transport by a natural mutation in the human insulin receptor. 5
8419945 1993
44
Downregulation of Wnt-mediated ROS generation is causally implicated in leprechaunism. 53 62
20033851 2010
45
Sustained regression of florid diabetic retinopathy in a patient with Donohue syndrome (leprechaunism). 53 62
19882513 2010
46
Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome. 53 62
18411068 2008
47
Dental and craniofacial characteristics in a patient with leprechaunism treated with insulin-like growth factor-I. 53 62
18302477 2008
48
Insulin effect on serum potassium and auto-inhibition of insulin secretion is intact in a patient with leprechaunism despite severe impairment of substrates metabolism. 53 62
17968975 2008
49
Some effect of metformin on insulin resistance in an infant with leprechaunism. 53 62
17172088 2006
50
[Leprechaunism: an inherited insulin resistance syndrome caused by the defect of insulin receptor]. 53 62
17166446 2006

Variations for Donohue Syndrome

ClinVar genetic disease variations for Donohue Syndrome:

5 (show top 50) (show all 266)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 INSR NM_000208.4(INSR):c.442A>T (p.Lys148Ter) SNV Pathogenic
14705 rs121913155 GRCh37: 19:7267566-7267566
GRCh38: 19:7267555-7267555
2 INSR NC_000019.10:g.(?_7112255)_(7249328_?)del DEL Pathogenic
14706 GRCh37:
GRCh38: 19:7112255-7249328
3 INSR NM_000208.4(INSR):c.1316G>C (p.Trp439Ser) SNV Pathogenic
14710 rs121913158 GRCh37: 19:7170715-7170715
GRCh38: 19:7170704-7170704
4 INSR NM_000208.4(INSR):c.438C>G (p.Ile146Met) SNV Pathogenic
14711 rs121913159 GRCh37: 19:7267570-7267570
GRCh38: 19:7267559-7267559
5 INSR NM_000208.4(INSR):c.1372A>G (p.Asn458Asp) SNV Pathogenic
14714 rs121913160 GRCh37: 19:7170659-7170659
GRCh38: 19:7170648-7170648
6 INSR NM_000208.4(INSR):c.338G>C (p.Arg113Pro) SNV Pathogenic
14703 rs121913153 GRCh37: 19:7267670-7267670
GRCh38: 19:7267659-7267659
7 INSR NM_000208.4(INSR):c.164T>C (p.Val55Ala) SNV Pathogenic
14702 rs121913152 GRCh37: 19:7267844-7267844
GRCh38: 19:7267833-7267833
8 INSR NM_000208.4(INSR):c.1195C>T (p.Arg399Ter) SNV Pathogenic
14701 rs121913151 GRCh37: 19:7172374-7172374
GRCh38: 19:7172363-7172363
9 INSR NM_000208.4(INSR):c.172G>A (p.Gly58Arg) SNV Pathogenic
14699 rs52836744 GRCh37: 19:7267836-7267836
GRCh38: 19:7267825-7267825
10 INSR NM_000208.4(INSR):c.779T>C (p.Leu260Pro) SNV Pathogenic
14689 rs121913141 GRCh37: 19:7184522-7184522
GRCh38: 19:7184511-7184511
11 INSR NM_000208.4(INSR):c.2770C>T (p.Arg924Ter) SNV Pathogenic
14686 rs387906538 GRCh37: 19:7132241-7132241
GRCh38: 19:7132230-7132230
12 INSR NM_000208.4(INSR):c.2095C>T (p.Gln699Ter) SNV Pathogenic
14682 rs121913137 GRCh37: 19:7152873-7152873
GRCh38: 19:7152862-7152862
13 INSR NM_000208.4(INSR):c.1177G>A (p.Gly393Arg) SNV Pathogenic
14681 rs267607184 GRCh37: 19:7172392-7172392
GRCh38: 19:7172381-7172381
14 INSR NM_000208.4(INSR):c.1459A>G (p.Lys487Glu) SNV Pathogenic
14680 rs121913136 GRCh37: 19:7170572-7170572
GRCh38: 19:7170561-7170561
15 INSR NM_000208.4(INSR):c.707A>G (p.His236Arg) SNV Pathogenic
14693 rs121913145 GRCh37: 19:7184594-7184594
GRCh38: 19:7184583-7184583
16 INSR NM_000208.4(INSR):c.632C>T (p.Thr211Ile) SNV Pathogenic
916551 rs1967766760 GRCh37: 19:7267376-7267376
GRCh38: 19:7267365-7267365
17 INSR NM_000208.4(INSR):c.1969G>T (p.Val657Phe) SNV Pathogenic
377381 rs1135401737 GRCh37: 19:7163103-7163103
GRCh38: 19:7163092-7163092
18 INSR NM_000208.4(INSR):c.653-9T>C SNV Uncertain Significance
592488 rs868296217 GRCh37: 19:7184657-7184657
GRCh38: 19:7184646-7184646
19 INSR NM_000208.4(INSR):c.624A>G (p.Arg208=) SNV Uncertain Significance
742862 rs759705666 GRCh37: 19:7267384-7267384
GRCh38: 19:7267373-7267373
20 INSR NM_000208.4(INSR):c.2263C>T (p.Pro755Ser) SNV Uncertain Significance
796295 rs148838377 GRCh37: 19:7150512-7150512
GRCh38: 19:7150501-7150501
21 INSR NM_000208.4(INSR):c.575G>A (p.Gly192Asp) SNV Uncertain Significance
743458 rs143919163 GRCh37: 19:7267433-7267433
GRCh38: 19:7267422-7267422
22 INSR NM_000208.4(INSR):c.1810C>T (p.Arg604Trp) SNV Uncertain Significance
593363 rs777486535 GRCh37: 19:7166216-7166216
GRCh38: 19:7166205-7166205
23 INSR NM_000208.4(INSR):c.*4719dup DUP Uncertain Significance
330346 rs543556010 GRCh37: 19:7112347-7112348
GRCh38: 19:7112336-7112337
24 INSR NM_000208.4(INSR):c.*927_*928insG INSERT Uncertain Significance
330415 rs886054675 GRCh37: 19:7116139-7116140
GRCh38: 19:7116128-7116129
25 INSR NM_000208.4(INSR):c.*442G>T SNV Uncertain Significance
893809 rs1325974020 GRCh37: 19:7116625-7116625
GRCh38: 19:7116614-7116614
26 INSR NM_000208.4(INSR):c.*499G>T SNV Uncertain Significance
893808 rs1173572474 GRCh37: 19:7116568-7116568
GRCh38: 19:7116557-7116557
27 INSR NM_000208.4(INSR):c.*1067G>A SNV Uncertain Significance
893774 rs141647996 GRCh37: 19:7116000-7116000
GRCh38: 19:7115989-7115989
28 INSR NM_000208.4(INSR):c.3844A>G (p.Thr1282Ala) SNV Uncertain Significance
893573 rs55875349 GRCh37: 19:7117372-7117372
GRCh38: 19:7117361-7117361
29 INSR NM_000208.4(INSR):c.2573C>T (p.Thr858Met) SNV Uncertain Significance
330455 rs201466857 GRCh37: 19:7141797-7141797
GRCh38: 19:7141786-7141786
30 INSR NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) SNV Uncertain Significance
211190 rs143523271 GRCh37: 19:7150532-7150532
GRCh38: 19:7150521-7150521
31 INSR NM_000208.4(INSR):c.14G>A (p.Gly5Asp) SNV Uncertain Significance
330481 rs886054690 GRCh37: 19:7293889-7293889
GRCh38: 19:7293878-7293878
32 INSR NM_000208.4(INSR):c.190T>C (p.Leu64=) SNV Uncertain Significance
195041 rs144836032 GRCh37: 19:7267818-7267818
GRCh38: 19:7267807-7267807
33 INSR NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn) SNV Uncertain Significance
435517 rs369102740 GRCh37: 19:7119479-7119479
GRCh38: 19:7119468-7119468
34 INSR NM_000208.4(INSR):c.2117C>A (p.Ala706Asp) SNV Uncertain Significance
435518 rs142391704 GRCh37: 19:7152851-7152851
GRCh38: 19:7152840-7152840
35 INSR NM_000208.4(INSR):c.1084G>A (p.Val362Ile) SNV Uncertain Significance
211188 rs72549237 GRCh37: 19:7174633-7174633
GRCh38: 19:7174622-7174622
36 INSR NM_000208.4(INSR):c.*3654G>A SNV Uncertain Significance
330362 rs753611294 GRCh37: 19:7113413-7113413
GRCh38: 19:7113402-7113402
37 INSR NM_000208.4(INSR):c.*3390CAA[4] MICROSAT Uncertain Significance
330367 rs886054663 GRCh37: 19:7113663-7113665
GRCh38: 19:7113652-7113654
38 INSR NM_000208.4(INSR):c.2245G>A (p.Gly749Ser) SNV Uncertain Significance
330465 rs545885277 GRCh37: 19:7150530-7150530
GRCh38: 19:7150519-7150519
39 INSR NM_000208.4(INSR):c.3370-12T>G SNV Uncertain Significance
330444 rs200201955 GRCh37: 19:7122796-7122796
GRCh38: 19:7122785-7122785
40 INSR NM_000208.4(INSR):c.*1592G>A SNV Uncertain Significance
330402 rs886054673 GRCh37: 19:7115475-7115475
GRCh38: 19:7115464-7115464
41 INSR NM_000208.4(INSR):c.-62C>T SNV Uncertain Significance
894527 rs532052290 GRCh37: 19:7293964-7293964
GRCh38: 19:7293953-7293953
42 INSR NM_000208.4(INSR):c.*3101C>G SNV Uncertain Significance
894562 rs1474403993 GRCh37: 19:7113966-7113966
GRCh38: 19:7113955-7113955
43 INSR NM_000208.4(INSR):c.*2752C>T SNV Uncertain Significance
894593 rs577444458 GRCh37: 19:7114315-7114315
GRCh38: 19:7114304-7114304
44 INSR NM_000208.4(INSR):c.*2752C>G SNV Uncertain Significance
892569 rs577444458 GRCh37: 19:7114315-7114315
GRCh38: 19:7114304-7114304
45 INSR NM_000208.4(INSR):c.*2322G>A SNV Uncertain Significance
894620 rs561917859 GRCh37: 19:7114745-7114745
GRCh38: 19:7114734-7114734
46 INSR NM_000208.4(INSR):c.*1917G>C SNV Uncertain Significance
894248 rs186013503 GRCh37: 19:7115150-7115150
GRCh38: 19:7115139-7115139
47 INSR NM_000208.4(INSR):c.*1909A>G SNV Uncertain Significance
894644 rs989727643 GRCh37: 19:7115158-7115158
GRCh38: 19:7115147-7115147
48 INSR NM_000208.4(INSR):c.*1045C>T SNV Uncertain Significance
894697 rs756351376 GRCh37: 19:7116022-7116022
GRCh38: 19:7116011-7116011
49 INSR NM_000208.4(INSR):c.*1001A>G SNV Uncertain Significance
894698 rs766637171 GRCh37: 19:7116066-7116066
GRCh38: 19:7116055-7116055
50 INSR NM_000208.4(INSR):c.*959A>G SNV Uncertain Significance
892709 rs988651664 GRCh37: 19:7116108-7116108
GRCh38: 19:7116097-7116097

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

73 (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 rs1347473020
11 INSR p.Cys301Tyr VAR_015912
12 INSR p.Ser350Leu VAR_015914
13 INSR p.Ile925Thr VAR_015918 rs1599881881
14 INSR p.Arg926Trp VAR_015919 rs911929963
15 INSR p.Thr937Met VAR_015920
16 INSR p.Arg1119Trp VAR_015925 rs1229730671
17 INSR p.Arg1201Trp VAR_015930 rs1568426700
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 rs1555689937
22 INSR p.Cys286Tyr VAR_079537
23 INSR p.Val657Phe VAR_079540 rs1135401737
24 INSR p.Trp659Arg VAR_079541
25 INSR p.Tyr818Cys VAR_079542

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 GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.78 IRS2 IRS1 INSR IGF1R IGF1 EGF
2 13.74 LEP IRS2 IRS1 INSR INS IGF1R
3
Show member pathways
13.52 IRS2 IRS1 INSR INS IGF1R IGF1
4
Show member pathways
13.35 IRS1 INSR IGF1R IGF1 EGF AKT2
5
Show member pathways
13.06 IRS2 IRS1 INSR INS EGF AKT2
6
Show member pathways
13.04 IRS1 INSR INS IGF1R IGF1 EGF
7
Show member pathways
12.93 AKT2 EGF IGF1 IGF1R INS INSR
8
Show member pathways
12.88 IRS2 IRS1 INSR INS IGF1R AKT2
9
Show member pathways
12.87 IRS1 IGF1R IGF1 EGF AKT2
10
Show member pathways
12.86 IRS2 IRS1 INSR IGF1R IGF1 AKT2
11
Show member pathways
12.85 LEP IRS2 IRS1 INSR INS AKT2
12
Show member pathways
12.82 IRS2 IRS1 INSR INS AKT2
13 12.75 IRS2 IRS1 INSR INS IGF1R IGF1
14
Show member pathways
12.73 IRS2 IRS1 INSR INS IGF1R IGF1
15
Show member pathways
12.71 AKT2 EGF IGF1 IGF1R IRS1
16 12.71 INSR INS IGF1R IGF1 EGF AKT2
17
Show member pathways
12.69 IRS2 IRS1 INSR INS EGF AKT2
18
Show member pathways
12.57 IRS2 IRS1 INSR INS IGF1R IGF1
19
Show member pathways
12.53 TBC1D4 IRS2 IRS1 INSR IGF1R AKT2
20
Show member pathways
12.44 AKT2 EGF IGF1 IGF1R
21
Show member pathways
12.36 IRS1 INSR IGF1R IGF1 EGF AKT2
22
Show member pathways
12.35 IRS1 IGF1R IGF1 AKT2
23 12.29 IGF1R IGF1 EGF AKT2
24
Show member pathways
12.29 IRS2 IRS1 IGF1R IGF1 AKT2
25
Show member pathways
12.2 IRS1 IGF1R IGF1 EGF AKT2
26
Show member pathways
12.19 LEP IRS2 IRS1 INSR INS AKT2
27 12.15 IRS1 INSR IGF1R EGF
28
Show member pathways
12.15 AKT2 EGF IGF1 IGF1R IRS1
29
Show member pathways
12.14 IGF1R IGF1 EGF AKT2
30
Show member pathways
12.13 AKT2 INS INSR LEP
31 12.11 IRS1 INSR IGF1R AKT2
32
Show member pathways
12.08 INS GCK AKT2
33 12.05 IRS1 INSR IGF1
34
Show member pathways
12.05 INSR INS IGF1R GCK
35 12.02 INS IGF1 EGF
36
Show member pathways
12 IRS2 IRS1 EGF AKT2
37 11.91 INS IGF1R IGF1
38 11.91 EGF IGF1 INS LEP
39
Show member pathways
11.84 INS GCK AKT2
40
Show member pathways
11.78 INSR IGF1R AKT2
41 11.76 TBC1D4 IRS2 IRS1 INSR INS IGF1R
42 11.7 INSR IGF1R IGF1 EGF
43 11.62 LEP IRS2 IRS1 AKT2
44 11.62 LEP IRS2 IRS1 INS IGF1 BSCL2
45 11.61 IRS1 IGF1R EGF
46 11.55 INS IGF1 EGF
47 11.53 IRS1 INSR INS AKT2
48
Show member pathways
11.52 INSR INS EGF
49 11.46 INS INSR IRS1 IRS2 LEP
50 11.43 EGF INS INSR IRS1 LEP

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 caveola GO:0005901 9.63 IRS1 INSR IGF1R
2 alphav-beta3 integrin-IGF-1-IGF1R complex GO:0035867 9.26 IGF1R IGF1
3 insulin receptor complex GO:0005899 9.1 IRS1 INSR IGF1R

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell population proliferation GO:0008284 10.33 AKT2 EGF IGF1 IGF1R INS INSR
2 positive regulation of cell migration GO:0030335 10.29 INSR INS IGF1R IGF1 EGF AKT2
3 positive regulation of MAPK cascade GO:0043410 10.27 LEP INSR INS IGF1R IGF1 EGF
4 positive regulation of protein kinase B signaling GO:0051897 10.23 LEP INSR INS IGF1R IGF1 EGF
5 glucose homeostasis GO:0042593 10.21 LEP IRS1 INSR INS IGF1R GCK
6 glucose metabolic process GO:0006006 10.18 AKT2 GCK INS IRS2 LEP
7 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 10.15 LEP INSR INS IGF1R IGF1 EGF
8 phosphatidylinositol 3-kinase signaling GO:0014065 10.08 IRS1 IGF1R IGF1
9 activation of protein kinase B activity GO:0032148 10.05 IGF1 INS INSR
10 response to insulin GO:0032868 10.04 LEP IRS1 IGF1R
11 positive regulation of cytokine production GO:0001819 10.04 LEP INS AGPAT2
12 phosphorylation GO:0016310 10.04 INSR IGF1R GCK AURKA AKT2
13 insulin-like growth factor receptor signaling pathway GO:0048009 10.04 IRS1 IGF1R IGF1
14 positive regulation of insulin receptor signaling pathway GO:0046628 10.03 LEP IRS1 INS
15 insulin receptor signaling pathway GO:0008286 10.03 IRS2 IRS1 INSR INS IGF1R AKT2
16 carbohydrate metabolic process GO:0005975 10.02 AKT2 GCK INS INSR
17 positive regulation of glycolytic process GO:0045821 10.02 INSR INS IGF1
18 positive regulation of mitotic nuclear division GO:0045840 10.02 AURKA EGF IGF1 INS INSR
19 positive regulation of fatty acid beta-oxidation GO:0032000 10.01 IRS2 IRS1 AKT2
20 positive regulation of glucose metabolic process GO:0010907 10 AKT2 IRS1 IRS2
21 neuron projection maintenance GO:1990535 9.96 INSR INS
22 dendritic spine maintenance GO:0097062 9.95 INSR IGF1R
23 cellular response to leptin stimulus GO:0044320 9.93 LEP GCK
24 response to vitamin E GO:0033197 9.93 LEP IGF1R
25 positive regulation of glucose import GO:0046326 9.93 IRS2 IRS1 INSR INS IGF1 AKT2
26 positive regulation of respiratory burst GO:0060267 9.92 INSR INS
27 bone mineralization involved in bone maturation GO:0035630 9.91 LEP IGF1
28 positive regulation of protein-containing complex disassembly GO:0043243 9.9 INSR IGF1R
29 positive regulation of developmental growth GO:0048639 9.89 LEP INSR
30 negative regulation of long-chain fatty acid import across plasma membrane GO:0010748 9.88 IRS2 AKT2
31 cellular response to insulin stimulus GO:0032869 9.83 AKT2 GCK IGF1R INSR IRS1 IRS2
32 positive regulation of glycogen biosynthetic process GO:0045725 9.47 IRS2 IRS1 INSR INS IGF1 GCK

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

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.77 INSR IGF1R GCK AURKA AKT2
2 phosphatidylinositol 3-kinase binding GO:0043548 9.76 IRS2 IRS1 INSR IGF1R
3 insulin binding GO:0043559 9.62 INSR IGF1R
4 insulin receptor activity GO:0005009 9.56 INSR IGF1R
5 insulin-like growth factor receptor binding GO:0005159 9.56 IRS1 INSR INS IGF1
6 insulin receptor binding GO:0005158 9.32 IRS2 IRS1 INS IGF1R IGF1

Sources for Donohue Syndrome

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