LEPRCH
MCID: DNH001
MIFTS: 61

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 20 43 58 73 44 15 39 71
Leprechaunism 57 12 74 20 43 58 73 36 13 54
Leprechaunism Syndrome 43 29 6
Donohue's Syndrome 43
Leprch 73

Characteristics:

Orphanet epidemiological data:

58
leprechaunism
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
death often in early infancy


HPO:

31
donohue syndrome:
Inheritance autosomal recessive inheritance


Classifications:

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


Summaries for Donohue Syndrome

MedlinePlus Genetics : 43 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 acquired generalized lipodystrophy, 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. Affiliated tissues include skeletal muscle, breast and kidney, and related phenotypes are hyperkeratosis and postnatal growth retardation

Disease Ontology : 12 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.

GARD : 20 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.

KEGG : 36 Leprechaunism (Donohue syndrome) is an autosomal recessive disorder of insulin-resistance characterized by intrauterine and postnatal growth retardation, acanthosis nigricans, lipoatrophy, and genitomegaly. The disease is known as leprechaunism because infants with the disease show an elf-like face and short stature.

UniProtKB/Swiss-Prot : 73 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 : 74 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 152)
# Related Disease Score Top Affiliating Genes
1 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 31.8 INSR INS IGFBP3 IGF1
2 acquired generalized lipodystrophy 31.5 BSCL2 AGPAT2
3 fasting hypoglycemia 30.5 INSR IGF1
4 acanthosis nigricans 30.2 INSR INS IGF1R IGF1 BAIAP2L1
5 hyperandrogenism 29.9 INSR INS IGFBP3 IGF1
6 hypoglycemia 29.9 INSR INS IGFBP3 IGF1 GCK
7 glucose intolerance 29.7 IRS1 INSR INS IGF1 GCK
8 marasmus 29.7 INS IGFBP3 IGF1
9 hyperinsulinemic hypoglycemia 29.6 INSR INS IGF1R GCK
10 maturity-onset diabetes of the young 29.1 IRS2 IRS1 INS GCK
11 hyperglycemia 29.1 IRS2 IRS1 INSR INS IGF1R IGF1
12 endometrial cancer 29.1 INS IGFBP3 IGF1R IGF1 EGF AURKA
13 insulin-like growth factor i 28.8 IRS2 IRS1 INSR INS IGFBP3 IGF1R
14 hyperinsulinism 28.7 IRS2 IRS1 INSR INS IGFBP3 IGF1R
15 polycystic ovary syndrome 28.5 IRS2 IRS1 INSR INS IGFBP3 IGF1
16 type 2 diabetes mellitus 27.1 IRS2 IRS1 INSR INS IGFBP3 IGF1R
17 patterson pseudoleprechaunism syndrome 11.0
18 diabetes mellitus, insulin-resistant, with acanthosis nigricans 11.0
19 insulin-resistance type b 10.9
20 autosomal recessive disease 10.4
21 hypertrichosis 10.4
22 insr-related severe syndromic insulin resistance 10.3
23 hypothalamic obesity 10.3 INS IGF1
24 acidophil adenoma 10.3 INS IGF1
25 hypertrophic cardiomyopathy 10.3
26 pituitary infarct 10.3 INS IGF1
27 sheehan syndrome 10.3 INS IGF1
28 pituitary apoplexy 10.2 INS IGF1
29 cerebral meningioma 10.2 IGF1 EGF
30 islet cell tumor 10.2 INSR INS IGF1
31 factitious disorder 10.2 INS GCK
32 diabetic encephalopathy 10.1 IRS1 INS IGF1
33 slipped capital femoral epiphysis 10.1 IGFBP3 IGF1
34 berardinelli-seip congenital lipodystrophy 10.1 BSCL2 AGPAT2
35 lipodystrophy, familial partial, type 1 10.1 BSCL2 AGPAT2
36 adiposis dolorosa 10.1 BSCL2 AGPAT2
37 mixed cell adenoma 10.1 IRS1 IGF1 EGF
38 decubitus ulcer 10.1 INS IGF1
39 cutis laxa 10.1
40 lipodystrophy, congenital generalized, type 4 10.1 BSCL2 AGPAT2
41 lipodystrophy, congenital generalized, type 3 10.1 BSCL2 AGPAT2
42 lipodystrophy, congenital generalized, type 1 10.1 BSCL2 AGPAT2
43 mammographic density 10.1 IGFBP3 IGF1
44 non-alcoholic steatohepatitis 10.1 IRS1 INS IGF1
45 maturity-onset diabetes of the young, type 10 10.1 INS GCK
46 type 1 diabetes mellitus 20 10.1 INS IGF1
47 central precocious puberty 10.1 IGFBP3 IGF1
48 lipid metabolism disorder 10.1 IRS1 INSR INS
49 atrial standstill 1 10.1
50 muscular atrophy 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 31 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000962
2 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008897
3 insulin resistance 58 31 hallmark (90%) Very frequent (99-80%) HP:0000855
4 severe intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008846
5 postprandial hyperglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011998
6 reduced subcutaneous adipose tissue 58 31 hallmark (90%) Very frequent (99-80%) HP:0003758
7 fasting hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003162
8 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
9 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
10 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
11 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
12 hyperinsulinemia 58 31 frequent (33%) Frequent (79-30%) HP:0000842
13 hypertrophic cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001639
14 severe global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011344
15 acanthosis nigricans 58 31 frequent (33%) Frequent (79-30%) HP:0000956
16 enlarged kidney 58 31 frequent (33%) Frequent (79-30%) HP:0000105
17 long penis 58 31 frequent (33%) Frequent (79-30%) HP:0000040
18 abdominal distention 58 31 frequent (33%) Frequent (79-30%) HP:0003270
19 clitoral hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008665
20 labial hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000065
21 facial hypertrichosis 58 31 frequent (33%) Frequent (79-30%) HP:0002219
22 overgrowth of external genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0003247
23 prominent nipples 58 31 frequent (33%) Frequent (79-30%) HP:0004405
24 recurrent infantile hypoglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0004914
25 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
26 thick vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0012471
27 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
28 hypokalemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002900
29 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
30 nephrocalcinosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000121
31 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
32 hyperaldosteronism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000859
33 hypercalciuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002150
34 pointed chin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000307
35 rectal prolapse 58 31 occasional (7.5%) Occasional (29-5%) HP:0002035
36 hyperextensible skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000974
37 wide nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000445
38 large hands 58 31 occasional (7.5%) Occasional (29-5%) HP:0001176
39 muscular hypotonia of the trunk 58 31 occasional (7.5%) Occasional (29-5%) HP:0008936
40 long foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001833
41 enlarged ovaries 58 31 occasional (7.5%) Occasional (29-5%) HP:0100879
42 increased circulating renin level 58 31 occasional (7.5%) Occasional (29-5%) HP:0000848
43 central hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0011787
44 megarectum 58 31 occasional (7.5%) Occasional (29-5%) HP:0025024
45 hypertrichosis 58 31 Very frequent (99-80%) HP:0000998
46 precocious puberty 31 HP:0000826
47 delayed skeletal maturation 31 HP:0002750
48 gingival overgrowth 31 HP:0000212
49 macrotia 31 HP:0000400
50 thick lower lip vermilion 31 HP:0000179

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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

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

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

Head And Neck Nose:
wide nostrils

Genitourinary External Genitalia Female:
large clitoris

Skin Nails Hair Hair:
hypertrichosis (body, face)

Clinical features from OMIM®:

246200 (Updated 05-Mar-2021)

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 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.05 AURKA
2 Decreased viability GR00055-A-2 10.05 AURKA
3 Decreased viability GR00221-A-1 10.05 AURKA GCK IGF1R INSR IRS1
4 Decreased viability GR00221-A-2 10.05 AURKA GCK IGF1R INSR IRS1
5 Decreased viability GR00221-A-3 10.05 GCK IGF1R INSR
6 Decreased viability GR00221-A-4 10.05 AURKA GCK INSR
7 Decreased viability GR00231-A 10.05 AURKA
8 Decreased viability GR00249-S 10.05 AURKA
9 Decreased viability GR00301-A 10.05 IGF1R
10 Decreased viability GR00342-S-2 10.05 IGF1R IRS1
11 Decreased viability GR00342-S-3 10.05 IRS1
12 Decreased viability GR00386-A-1 10.05 IRS1
13 Decreased viability GR00402-S-2 10.05 AURKA IGF1R
14 Decreased cell migration GR00055-A-1 9.26 GCK IGF1R
15 Decreased cell migration GR00055-A-3 9.26 AURKA IRS2

MGI Mouse Phenotypes related to Donohue Syndrome:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.29 AGPAT2 AURKA BAIAP2L1 BSCL2 EGF GCK
2 cardiovascular system MP:0005385 10.28 AURKA BAIAP2L1 BSCL2 GCK IGF1 IGF1R
3 cellular MP:0005384 10.26 AGPAT2 AURKA BSCL2 GCK IGF1 IGF1R
4 endocrine/exocrine gland MP:0005379 10.24 AGPAT2 BSCL2 EGF GCK IGF1 IGF1R
5 adipose tissue MP:0005375 10.2 AGPAT2 BSCL2 IGF1 IGF1R IGFBP3 INS
6 homeostasis/metabolism MP:0005376 10.2 AGPAT2 BAIAP2L1 BSCL2 GCK IGF1 IGF1R
7 immune system MP:0005387 10.09 AGPAT2 BSCL2 EGF IGF1 IGF1R INS
8 integument MP:0010771 10.01 AGPAT2 BSCL2 EGF IGF1 IGF1R IGFBP3
9 mortality/aging MP:0010768 10 AGPAT2 AURKA BAIAP2L1 BSCL2 GCK IGF1
10 digestive/alimentary MP:0005381 9.99 AGPAT2 BSCL2 EGF IGF1R INS INSR
11 limbs/digits/tail MP:0005371 9.97 AGPAT2 AURKA BAIAP2L1 BSCL2 IGF1 IGF1R
12 liver/biliary system MP:0005370 9.97 AGPAT2 BSCL2 GCK IGF1R IGFBP3 INS
13 muscle MP:0005369 9.7 IGF1 IGF1R IGFBP3 INS INSR IRS1
14 renal/urinary system MP:0005367 9.5 AGPAT2 BSCL2 GCK IGF1 INS INSR
15 skeleton MP:0005390 9.23 AGPAT2 BAIAP2L1 BSCL2 IGF1 IGF1R IGFBP3

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 29 INSR

Anatomical Context for Donohue Syndrome

MalaCards organs/tissues related to Donohue Syndrome:

40
Skeletal Muscle, Breast, Kidney, Pancreatic Islet, Bone, Thymus, Tonsil

Publications for Donohue Syndrome

Articles related to Donohue Syndrome:

(show top 50) (show all 276)
# Title Authors PMID Year
1
Homozygosity for a new mutation (Ile119-->Met) in the insulin receptor gene in five sibs with familial insulin resistance. 61 57 6 54
7815442 1994
2
A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents. 57 6 54 61
8326490 1993
3
Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. 6 61 54
12970295 2003
4
Genotype-phenotype correlation in inherited severe insulin resistance. 61 54 6
12023989 2002
5
A mutation in the insulin receptor that impairs proreceptor processing but not insulin binding. 61 54 6
8188715 1994
6
Reduced mRNA and a nonsense mutation in the insulin-receptor gene produce heritable severe insulin resistance. 54 61 6
1315125 1992
7
An Arg for Gly substitution at position 31 in the insulin receptor, linked to insulin resistance, inhibits receptor processing and transport. 54 61 6
1730625 1992
8
Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. 6 54 61
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. 61 54 6
2300553 1990
10
Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. 61 6
27896077 2014
11
Leprechaunism and homozygous nonsense mutation in the insulin receptor gene. 61 57
8105179 1993
12
Homozygous deletion of the human insulin receptor gene results in leprechaunism. 61 6
7693131 1993
13
Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism. 6 61
8101305 1993
14
Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis. 61 6
1607067 1992
15
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. 6 61
1657953 1991
16
Epidermal growth factor receptor defects in leprechaunism. A multiple growth factor-resistant syndrome. 57 61
2808704 1989
17
A leucine-to-proline mutation in the insulin receptor in a family with insulin resistance. 61 6
2479553 1989
18
Molecular defects in the insulin receptor in patients with leprechaunism and in their parents. 57 61
2569023 1989
19
Insulin receptor function in fibroblasts from patients with leprechaunism. Differential alterations in binding, autophosphorylation, kinase activity, and receptor-mediated internalization. 57 61
3049675 1988
20
Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance. 61 6
2834824 1988
21
Improper expression of insulin receptors on fibroblasts from a leprechaun patient. 61 6
3280314 1988
22
Structural analysis of normal and mutant insulin receptors in fibroblasts cultured from families with leprechaunism. 57 61
3631076 1987
23
Leprechaunism: in vitro insulin action despite genetic insulin resistance. 57 61
3309859 1987
24
[A rare polydysmorphic syndrome: leprechaunism. Review of 49 cases reported in the literature]. 57 61
3322162 1987
25
Leprechaunism: an inherited defect in a high-affinity insulin receptor. 57 61
3883764 1985
26
Fibroblasts from a patient with leprechaunism are resistant to insulin, epidermal growth factor, and somatomedin C. 57 61
6286709 1982
27
Hepatic ultrastructure in leprechaunism. Hepatic ultrastructural evidence suggesting a syndrome with defective hepatic glucose release. 57 61
7179734 1982
28
Qualitative abnormalities in insulin binding in a patient with extreme insulin resistance: decreased sensitivity to alterations in temperature and pH. 57 61
7031672 1981
29
Glucose kinetics in leprechaunism: accelerated fasting due to insulin resistance. 61 57
6999010 1980
30
A case of leprechaunism with severe hyperinsulinemia. 61 57
6986080 1980
31
Primary defect of insulin receptors in skin fibroblasts cultured from an infant with leprechaunism and insulin resistance. 61 57
293690 1979
32
Insulin resistance due to a defect distal to the insulin receptor: demonstration in a patient with leprechaunism. 57 61
277948 1978
33
Leprechaunism. A report of two new cases. 61 57
5129536 1971
34
[Clinical picture of congenital dysendocrinic disease or leprechaunism]. 61 57
4991281 1970
35
Leprechaunism (Donohue's syndrome): a case report. 61 57
4886189 1969
36
Metabolic and chromosomal studies in leprechaunism. 61 57
5844952 1965
37
DYSTROPHIC CHANGES ASSOCIATED WITH LEPRECHAUNISM IN A MALE INFANT. 61 57
14065999 1963
38
[Leprechaunism (Donohue syndrome)]. 61 57
13928153 1963
39
Leprechaunism in a male infant. 57 61
14484402 1962
40
Leprechaunism. 57 61
13275976 1955
41
Leprechaunism: a euphemism for a rare familial disorder. 57 61
13212592 1954
42
Activation of glucose transport by a natural mutation in the human insulin receptor. 6
8419945 1993
43
Sustained regression of florid diabetic retinopathy in a patient with Donohue syndrome (leprechaunism). 54 61
19882513 2010
44
Downregulation of Wnt-mediated ROS generation is causally implicated in leprechaunism. 54 61
20033851 2010
45
Dental and craniofacial characteristics in a patient with leprechaunism treated with insulin-like growth factor-I. 61 54
18302477 2008
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. 54 61
18411068 2008
47
Insulin effect on serum potassium and auto-inhibition of insulin secretion is intact in a patient with leprechaunism despite severe impairment of substrates metabolism. 54 61
17968975 2008
48
Some effect of metformin on insulin resistance in an infant with leprechaunism. 54 61
17172088 2006
49
[Leprechaunism: an inherited insulin resistance syndrome caused by the defect of insulin receptor]. 61 54
17166446 2006
50
Impaired generation of reactive oxygen species in leprechaunism through downregulation of Nox4. 61 54
16249442 2005

Variations for Donohue Syndrome

ClinVar genetic disease variations for Donohue Syndrome:

6 (show top 50) (show all 264)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 INSR NM_000208.4(INSR):c.1372A>G (p.Asn458Asp) SNV Pathogenic 14714 rs121913160 19:7170659-7170659 19:7170648-7170648
2 INSR NM_000208.4(INSR):c.438C>G (p.Ile146Met) SNV Pathogenic 14711 rs121913159 19:7267570-7267570 19:7267559-7267559
3 INSR NM_000208.4(INSR):c.1316G>C (p.Trp439Ser) SNV Pathogenic 14710 rs121913158 19:7170715-7170715 19:7170704-7170704
4 INSR NC_000019.10:g.(?_7112255)_(7249328_?)del Deletion Pathogenic 14706 19:7112255-7249328
5 INSR NM_000208.4(INSR):c.442A>T (p.Lys148Ter) SNV Pathogenic 14705 rs121913155 19:7267566-7267566 19:7267555-7267555
6 INSR NM_000208.4(INSR):c.338G>C (p.Arg113Pro) SNV Pathogenic 14703 rs121913153 19:7267670-7267670 19:7267659-7267659
7 INSR NM_000208.4(INSR):c.164T>C (p.Val55Ala) SNV Pathogenic 14702 rs121913152 19:7267844-7267844 19:7267833-7267833
8 INSR NM_000208.4(INSR):c.1195C>T (p.Arg399Ter) SNV Pathogenic 14701 rs121913151 19:7172374-7172374 19:7172363-7172363
9 INSR NM_000208.4(INSR):c.172G>A (p.Gly58Arg) SNV Pathogenic 14699 rs52836744 19:7267836-7267836 19:7267825-7267825
10 INSR NM_000208.4(INSR):c.779T>C (p.Leu260Pro) SNV Pathogenic 14689 rs121913141 19:7184522-7184522 19:7184511-7184511
11 INSR NM_000208.4(INSR):c.2770C>T (p.Arg924Ter) SNV Pathogenic 14686 rs387906538 19:7132241-7132241 19:7132230-7132230
12 INSR NM_000208.4(INSR):c.2095C>T (p.Gln699Ter) SNV Pathogenic 14682 rs121913137 19:7152873-7152873 19:7152862-7152862
13 INSR NM_000208.4(INSR):c.1177G>A (p.Gly393Arg) SNV Pathogenic 14681 rs267607184 19:7172392-7172392 19:7172381-7172381
14 INSR NM_000208.4(INSR):c.1459A>G (p.Lys487Glu) SNV Pathogenic 14680 rs121913136 19:7170572-7170572 19:7170561-7170561
15 INSR NM_000208.4(INSR):c.632C>T (p.Thr211Ile) SNV Pathogenic 916551 19:7267376-7267376 19:7267365-7267365
16 INSR NM_000208.4(INSR):c.3003_3012delinsGGAAG (p.Ser1001fs) Indel Pathogenic 504475 rs1555735951 19:7126596-7126605 19:7126585-7126594
17 INSR NM_000208.4(INSR):c.707A>G (p.His236Arg) SNV Pathogenic 14693 rs121913145 19:7184594-7184594 19:7184583-7184583
18 INSR NM_000208.4(INSR):c.1969G>T (p.Val657Phe) SNV Pathogenic 377381 rs1135401737 19:7163103-7163103 19:7163092-7163092
19 INSR NM_000208.4(INSR):c.167T>C (p.Ile56Thr) SNV Pathogenic 504474 rs1555689937 19:7267841-7267841 19:7267830-7267830
20 INSR NM_000208.4(INSR):c.41T>C (p.Leu14Pro) SNV Uncertain significance 289211 rs745857330 19:7293862-7293862 19:7293851-7293851
21 INSR NM_000208.4(INSR):c.2838C>G (p.Asp946Glu) SNV Uncertain significance 211195 rs146588336 19:7132173-7132173 19:7132162-7132162
22 INSR NM_000208.4(INSR):c.2388G>C (p.Arg796Ser) SNV Uncertain significance 549552 rs78433961 19:7142981-7142981 19:7142970-7142970
23 INSR NM_000208.4(INSR):c.2388G>C (p.Arg796Ser) SNV Uncertain significance 549552 rs78433961 19:7142981-7142981 19:7142970-7142970
24 INSR NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) SNV Uncertain significance 211190 rs143523271 19:7150532-7150532 19:7150521-7150521
25 INSR NM_000208.4(INSR):c.1810C>T (p.Arg604Trp) SNV Uncertain significance 593363 rs777486535 19:7166216-7166216 19:7166205-7166205
26 INSR NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn) SNV Uncertain significance 435517 rs369102740 19:7119479-7119479 19:7119468-7119468
27 INSR NM_000208.4(INSR):c.2117C>A (p.Ala706Asp) SNV Uncertain significance 435518 rs142391704 19:7152851-7152851 19:7152840-7152840
28 INSR NM_000208.4(INSR):c.225C>T (p.Asp75=) SNV Uncertain significance 435514 rs41352749 19:7267783-7267783 19:7267772-7267772
29 INSR NM_000208.4(INSR):c.2263C>T (p.Pro755Ser) SNV Uncertain significance 796295 rs148838377 19:7150512-7150512 19:7150501-7150501
30 INSR NM_000208.4(INSR):c.2793G>A (p.Ala931=) SNV Uncertain significance 739582 rs111502197 19:7132218-7132218 19:7132207-7132207
31 INSR NM_000208.4(INSR):c.624A>G (p.Arg208=) SNV Uncertain significance 742862 rs759705666 19:7267384-7267384 19:7267373-7267373
32 INSR NM_000208.4(INSR):c.575G>A (p.Gly192Asp) SNV Uncertain significance 743458 rs143919163 19:7267433-7267433 19:7267422-7267422
33 INSR NM_000208.4(INSR):c.2295C>T (p.Gly765=) SNV Uncertain significance 330462 rs142654992 19:7143074-7143074 19:7143063-7143063
34 INSR NM_000208.4(INSR):c.3193C>G (p.Leu1065Val) SNV Uncertain significance 194702 rs56395521 19:7125359-7125359 19:7125348-7125348
35 INSR NM_000208.4(INSR):c.190T>C (p.Leu64=) SNV Uncertain significance 195041 rs144836032 19:7267818-7267818 19:7267807-7267807
36 INSR NM_000208.4(INSR):c.2665C>T (p.Arg889Trp) SNV Uncertain significance 282255 rs76077021 19:7141705-7141705 19:7141694-7141694
37 INSR NM_000208.4(INSR):c.2498G>A (p.Arg833Gln) SNV Uncertain significance 502299 rs777565396 19:7142871-7142871 19:7142860-7142860
38 INSR NM_000208.4(INSR):c.1084G>A (p.Val362Ile) SNV Uncertain significance 211188 rs72549237 19:7174633-7174633 19:7174622-7174622
39 INSR NM_000208.4(INSR):c.653-9T>C SNV Uncertain significance 592488 rs868296217 19:7184657-7184657 19:7184646-7184646
40 INSR NM_000208.4(INSR):c.*2145_*2146dup Duplication Uncertain significance 330394 rs57473640 19:7114920-7114921 19:7114909-7114910
41 INSR NM_000208.4(INSR):c.*1591C>T SNV Uncertain significance 893439 19:7115476-7115476 19:7115465-7115465
42 INSR NM_000208.4(INSR):c.*1137A>G SNV Uncertain significance 893473 19:7115930-7115930 19:7115919-7115919
43 INSR NM_000208.4(INSR):c.*743A>G SNV Uncertain significance 893504 19:7116324-7116324 19:7116313-7116313
44 INSR NM_000208.4(INSR):c.*214G>A SNV Uncertain significance 893531 19:7116853-7116853 19:7116842-7116842
45 INSR NM_000208.4(INSR):c.-62C>T SNV Uncertain significance 894527 19:7293964-7293964 19:7293953-7293953
46 INSR NM_000208.4(INSR):c.*3101C>G SNV Uncertain significance 894562 19:7113966-7113966 19:7113955-7113955
47 INSR NM_000208.4(INSR):c.*2752C>T SNV Uncertain significance 894593 19:7114315-7114315 19:7114304-7114304
48 INSR NM_000208.4(INSR):c.*2752C>G SNV Uncertain significance 892569 19:7114315-7114315 19:7114304-7114304
49 INSR NM_000208.4(INSR):c.*2322G>A SNV Uncertain significance 894620 19:7114745-7114745 19:7114734-7114734
50 INSR NM_000208.4(INSR):c.*1917G>C SNV Uncertain significance 894248 19:7115150-7115150 19:7115139-7115139

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 rs134747302
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 rs122973067
17 INSR p.Arg1201Trp VAR_015930 rs156842670
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 rs155568993
22 INSR p.Cys286Tyr VAR_079537
23 INSR p.Val657Phe VAR_079540 rs113540173
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 KEGG:

36
# Name Kegg Source Accession
1 Adherens junction hsa04520
2 Insulin signaling pathway hsa04910
3 Aldosterone-regulated sodium reabsorption hsa04960

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

(show top 50) (show all 57)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.47 IRS2 IRS1 INSR INS IGF1R IGF1
2
Show member pathways
13.04 IRS2 IRS1 INSR INS EGF
3
Show member pathways
13 IRS1 INSR INS IGF1R IGF1 EGF
4
Show member pathways
12.95 IRS1 INSR INS IGF1R IGF1 EGF
5
Show member pathways
12.83 IRS1 INS IGF1R IGF1 EGF
6
Show member pathways
12.82 IRS2 IRS1 INSR IGF1R IGF1
7
Show member pathways
12.71 INSR INS IGF1R IGF1 EGF
8
Show member pathways
12.7 IRS2 IRS1 INSR INS EGF
9 12.68 INSR INS IGF1R IGF1 GCK EGF
10
Show member pathways
12.61 IRS1 IGF1R IGF1 EGF
11
Show member pathways
12.6 IRS2 IRS1 IGFBP3 IGF1
12
Show member pathways
12.58 IRS2 IRS1 INSR INS IGFBP3 IGF1R
13
Show member pathways
12.52 IRS1 IGF1R IGF1 EGF
14
Show member pathways
12.5 IRS2 IRS1 INSR INS
15
Show member pathways
12.48 IRS2 IRS1 INSR INS IGF1R
16
Show member pathways
12.46 IRS1 INSR INS IGF1R IGF1
17
Show member pathways
12.44 IRS2 IRS1 INS GCK
18
Show member pathways
12.39 IRS2 IRS1 INSR INS IGF1R IGF1
19
Show member pathways
12.37 INSR INS EGF AGPAT2
20
Show member pathways
12.33 INS IGF1R IGF1 AURKA
21
Show member pathways
12.33 IRS2 IRS1 IGFBP3 IGF1R IGF1
22
Show member pathways
12.29 IRS1 IGF1R IGF1 EGF
23
Show member pathways
12.25 IRS1 INSR IGF1R IGF1 EGF
24
Show member pathways
12.19 IRS2 IRS1 INSR INS
25
Show member pathways
12.15 IRS1 IGF1R IGF1
26 12.11 IRS1 INSR IGF1R EGF
27
Show member pathways
12.1 IGF1R IGF1 EGF
28
Show member pathways
12.07 IRS2 IRS1 EGF
29 12.07 IRS2 IRS1 INS IGF1R
30 12.05 IRS2 IRS1 INSR INS IGFBP3 IGF1R
31 12.01 INS IGF1 EGF
32
Show member pathways
12.01 INSR INS IGF1R GCK
33
Show member pathways
11.98 IRS2 IRS1 INSR INS IGF1R IGF1
34
Show member pathways
11.93 IRS2 IRS1 INSR INS
35 11.92 IGF1R IGF1 EGF
36 11.9 INS IGFBP3 IGF1R IGF1
37 11.85 IRS2 IRS1 INS IGF1 BSCL2 AGPAT2
38 11.84 INS IGFBP3 IGF1 EGF
39 11.84 INSR INS IGF1R IGF1 EGF
40
Show member pathways
11.75 IRS2 IRS1 INSR INS GCK
41 11.68 INSR IGF1R IGF1 EGF
42 11.67 IRS1 INSR INS
43 11.57 IRS2 IRS1 INSR INS
44 11.52 INS IGF1 EGF
45 11.5 INSR INS IGF1R IGF1
46 11.48 IRS1 INSR INS EGF
47 11.46 IRS1 INSR INS
48
Show member pathways
11.45 INSR INS EGF
49 11.3 IRS1 INSR INS IGF1
50
Show member pathways
11.3 IRS2 IRS1 INSR INS IGF1R IGF1

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 insulin-like growth factor ternary complex GO:0042567 9.26 IGFBP3 IGF1
2 alphav-beta3 integrin-IGF-1-IGF1R complex GO:0035867 9.16 IGF1R IGF1
3 insulin-like growth factor binding protein complex GO:0016942 8.96 IGFBP3 IGF1
4 insulin receptor complex GO:0005899 8.8 IRS1 INSR IGF1R

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 10.02 IRS2 IRS1 INSR INS IGF1R IGF1
2 positive regulation of cell migration GO:0030335 9.91 IRS2 INSR INS IGF1R IGF1 EGF
3 glucose homeostasis GO:0042593 9.85 IRS1 INSR INS IGF1R GCK
4 positive regulation of protein kinase B signaling GO:0051897 9.85 IRS2 IRS1 INSR INS IGF1R EGF
5 cellular response to insulin stimulus GO:0032869 9.83 IRS2 IRS1 INSR GCK
6 peptidyl-tyrosine phosphorylation GO:0018108 9.82 INSR IGF1R EGF
7 activation of MAPK activity GO:0000187 9.8 INSR IGF1 EGF
8 phosphatidylinositol-mediated signaling GO:0048015 9.8 IRS2 IRS1 IGF1R IGF1
9 insulin receptor signaling pathway GO:0008286 9.8 IRS2 IRS1 INSR INS IGF1R
10 positive regulation of MAPK cascade GO:0043410 9.8 INSR INS IGFBP3 IGF1R IGF1 EGF
11 glucose metabolic process GO:0006006 9.75 IRS2 INS GCK
12 phosphatidylinositol 3-kinase signaling GO:0014065 9.73 IRS1 IGF1R IGF1
13 activation of protein kinase B activity GO:0032148 9.72 INSR INS IGF1
14 positive regulation of glycolytic process GO:0045821 9.71 INSR INS IGF1
15 insulin-like growth factor receptor signaling pathway GO:0048009 9.69 IRS1 IGF1R IGF1
16 positive regulation of receptor internalization GO:0002092 9.65 INSR EGF
17 positive regulation of insulin receptor signaling pathway GO:0046628 9.65 IRS1 INS
18 positive regulation of glucose import GO:0046326 9.65 IRS2 IRS1 INSR INS IGF1
19 negative regulation of lipid catabolic process GO:0050995 9.64 INS BSCL2
20 negative regulation of gluconeogenesis GO:0045721 9.63 INS GCK
21 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.63 IRS2 INSR INS IGF1R IGF1 EGF
22 amyloid-beta clearance GO:0097242 9.62 INSR IGF1R
23 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.62 IGFBP3 IGF1
24 neuron projection maintenance GO:1990535 9.61 INSR INS
25 dendritic spine maintenance GO:0097062 9.61 INSR IGF1R
26 positive regulation of fatty acid beta-oxidation GO:0032000 9.6 IRS2 IRS1
27 positive regulation of glucose metabolic process GO:0010907 9.59 IRS2 IRS1
28 positive regulation of respiratory burst GO:0060267 9.58 INSR INS
29 positive regulation of protein complex disassembly GO:0043243 9.57 INSR IGF1R
30 positive regulation of mitotic nuclear division GO:0045840 9.35 INSR INS IGF1 EGF AURKA
31 positive regulation of glycogen biosynthetic process GO:0045725 9.1 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 insulin-like growth factor binding GO:0005520 9.46 IGFBP3 IGF1R
2 phosphatidylinositol 3-kinase binding GO:0043548 9.46 IRS2 IRS1 INSR IGF1R
3 insulin receptor substrate binding GO:0043560 9.43 INSR IGF1R
4 insulin-like growth factor I binding GO:0031994 9.43 INSR IGFBP3 IGF1R
5 insulin-like growth factor II binding GO:0031995 9.4 INSR IGFBP3
6 insulin binding GO:0043559 9.37 INSR IGF1R
7 insulin-activated receptor activity GO:0005009 9.32 INSR IGF1R
8 insulin-like growth factor receptor binding GO:0005159 9.26 IRS1 INSR INS IGF1
9 insulin receptor binding GO:0005158 9.02 IRS2 IRS1 INS IGF1R IGF1

Sources for Donohue Syndrome

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