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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Diabetes Mellitus (D003920)
Parent Node: Genetic Diseases, Inborn (D030342)
..Starting node ..Donohue Syndrome (D056731)
Child Nodes:
........Insulin Receptor, Defect in (C562709)
Sister Nodes:
..ACTH Deficiency, Isolated (C562707)
..Adrenal Hyperplasia, Congenital (D000312) 12
..Adrenocortical Hypofunction, Chronic Primary Congenital (C562711)
..Alagille Syndrome (D016738)
..alpha 1-Antitrypsin Deficiency (D019896) 1
..Alpha-2-Deficient Collagen Disease (C565963)
..Anemia, Hemolytic, Congenital (D000745) 68
..Anemia, Hypoplastic, Congenital (D029502) 27
..Angioedemas, Hereditary (D054179) 2
..Ataxia Telangiectasia (D001260) 6
..Atrial Standstill (C563984)
..Autoimmune Lymphoproliferative Syndrome (D056735) 5
..Blood Coagulation Disorders, Inherited (D025861) 70
..Brugada Syndrome (D053840) 9
..CADASIL (D046589) 1
..Camurati-Engelmann Syndrome (D003966) 4
..Cardiomyopathy, Hypertrophic, Familial (D024741) 15
..Cerebral Palsy, Ataxic, Autosomal Recessive (C562856)
..CHARGE Syndrome (D058747)
..Cherubism (D002636) 2
..Chromosome Disorders (D025063) 160
..Cirrhosis, Familial (C566123)
..Complement Factor I Deficiency (C572568)
..Corticosteroid-Binding Globulin Deficiency (C565152)
..Costello Syndrome (D056685)
..Cryoglobulinemia, Familial Mixed (C565141)
..Cystic Fibrosis (D003550) 4
..Donohue Syndrome (D056731) 1
..Dwarfism (D004392) 155
..Epistaxis, Hereditary (C562751)
..Eye Diseases, Hereditary (D015785) 373
..Frasier Syndrome (D052159)
..Genetic Diseases, X-Linked (D040181) 412
..Genetic Diseases, Y-Linked (D050174) 5
..Hajdu-Cheney Syndrome (D031845) 1
..Hemoglobinopathies (D006453) 23
..Hepatic Fibrosis, Congenital (C562378)
..Hereditary Autoinflammatory Diseases (D056660) 10
..Hereditary Myopathy with Early Respiratory Failure (C566343)
..Heredodegenerative Disorders, Nervous System (D020271) 543
..Histiocytosis, Familial Lipochrome (C562738)
..Hyper-IgM Immunodeficiency Syndrome (D053306) 3
..Hyperthyroxinemia, Familial Dysalbuminemic (D050010) 1
..Interstitial Pneumonitis, Desquamative, Familial (C562470)
..Kallmann Syndrome (D017436) 9
..Kartagener Syndrome (D007619) 6
..Lennox Gastaut Syndrome (D065768) 1
..Loeys-Dietz Syndrome (D055947) 5
..Marfan Syndrome (D008382) 9
..Metabolism, Inborn Errors (D008661) 886
..Muscular Dystrophies (D009136) 117
..Myasthenic Syndromes, Congenital (D020294) 15
..Nail-Patella Syndrome (D009261) 1
..Neoplastic Syndromes, Hereditary (D009386) 111
..Neutropenia, Nonimmune Chronic Idiopathic, Adult (C564320)
..Osteoarthropathy, Primary Hypertrophic (D010004) 2
..Osteogenesis Imperfecta (D010013) 27
..Pain Insensitivity, Congenital (D000699) 2
..Parotidomegaly, Hereditary Bilateral (C566821)
..Pelger-Huet Anomaly (D010381)
..Platelet Glycoprotein IV Deficiency (C564245)
..Polycystic Kidney, Autosomal Recessive (D017044) 3
..Prolactin Deficiency, Isolated (C562708)
..Pulmonary Alveolar Microlithiasis (C562405)
..Pycnodysostosis (D058631)
..Rh Deficiency Syndrome (C562717)
..Skin Diseases, Genetic (D012873) 462
..Weill-Marchesani Syndrome (D056846)
..Werner Syndrome (D014898) 1
..Yellow Nail Syndrome (D056684) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3443

Name:

Donohue Syndrome

Definition:

Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of INSULIN RECEPTOR. Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic FACIES; HIRSUTISM; VIRILIZATION; multiple endocrine abnormalities, and early death.

Alternative IDs:

OMIM:246200|OMIM:262190

ParentIDs:

MESH:D000015|MESH:D003920|MESH:D019465|MESH:D030342

TreeNumbers:

C05.660.207.325 |C16.131.077.313 |C16.320.215 |C18.452.394.750.654 |C19.246.537

Synonyms:

Slim Mappings:

Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease

Reference:

MedGen: D056731
MeSH: D056731
OMIM: 262190;

Genes: INSR;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000956	Acanthosis nigricans
3	HP:0006288	Advanced eruption of teeth
4	HP:0008665	Clitoral hypertrophy
5	HP:0000280	Coarse facial features
6	HP:0001953	Diabetic ketoacidosis
7	HP:0000958	Dry skin
8	HP:0003162	Fasting hypoglycemia
9	HP:0001263	Global developmental delay
10	HP:0000218	High palate
11	HP:0003074	Hyperglycemia
12	HP:0000842	Hyperinsulinemia
13	HP:0000998	Hypertrichosis
14	HP:0001943	Hypoglycemia
15	HP:0000831	Insulin-resistant diabetes mellitus
16	HP:0000040	Long penis
17	HP:0000303	Mandibular prognathia
18	HP:0012542	Onychauxis
19	HP:0011998	Postprandial hyperglycemia
20	HP:0000826	Precocious puberty
21	HP:0004322	Short stature
22	HP:0001518	Small for gestational age

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000208.3(INSR):c.3079C>T (p.Arg1027Ter)	3643	INSR	Pathogenic	121913144	RCV000128412; RCV000015807;	N	MedGen:C0271690,OMIM:610549,SNOMED CT:9859006; MedGen:C0271695,OMIM:262190,ORPHA:769,SNOMED CT:33559001	19	7125473	7125473	NM_000208.3:c.3079C>T	NP_000199.2:p.Arg1027Ter		OMIM Allelic Variant:147670.0013,OMIM Allelic Variant:147670.0019	C0271690 610549 Insulin-resistant diabetes mellitus AND acanthosis nigricans; C0271695 262190 Pineal hyperplasia AND diabetes mellitus syndrome
NM_000208.3(INSR):c.2480_2487delAGGACACC (p.Gln827Profs)	3643	INSR	Pathogenic	587776820	RCV000015828;	N	MedGen:C0271695,OMIM:262190,ORPHA:769,SNOMED CT:33559001	19	7142882	7142889	NM_000208.3:c.2480_2487delAGGACACC	NP_000199.2:p.Gln827Profs		OMIM Allelic Variant:147670.0035	C0271695 262190 Pineal hyperplasia AND diabetes mellitus syndrome
NM_000208.3(INSR):c.1124-2A>G	3643	INSR	Pathogenic	587776819	RCV000015827;	N	MedGen:C0271695,OMIM:262190,ORPHA:769,SNOMED CT:33559001	19	7172447	7172447	NM_000208.3:c.1124-2A>G			OMIM Allelic Variant:147670.0034	C0271695 262190 Pineal hyperplasia AND diabetes mellitus syndrome
NM_000208.3(INSR):c.126C>A (p.Asn42Lys)	3643	INSR	Pathogenic	121913143	RCV000015806;	N	MedGen:C0271695,OMIM:262190,ORPHA:769,SNOMED CT:33559001	19	7267882	7267882	NM_000208.3:c.126C>A	NP_000199.2:p.Asn42Lys	NC_000019.9:g.7267882G>T	OMIM Allelic Variant:147670.0012	C0271695 262190 Pineal hyperplasia AND diabetes mellitus syndrome