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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: Growth Disorders (D006130)
..Starting node ..Insulin-Like Growth Factor I, Resistance To (C564816)
Child Nodes:
Sister Nodes:
..Acrocapitofemoral Dysplasia (C564334)
..Acrocephalopolydactylous Dysplasia (C573722)
..Acromegaloid features, overgrowth, cleft palate, and hernia (C535656)
..Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations (C563429)
..Al Gazali Khidr Prem Chandran syndrome (C535616)
..Aphalangia syndactyly microcephaly (C537787)
..Auriculoosteodysplasia (C538271)
..Bellini Chiumello Rimoldi syndrome (C535652)
..Berk-Tabatznik syndrome (C535432)
..Bhaskar Jagannathan syndrome (C535437)
..Blepharophimosis with ptosis, syndactyly, and short stature (C536235)
..Borjeson-Forssman-Lehmann syndrome (C536575)
..Boudhina Yedes Khiari syndrome (C537939)
..BRACHYDACTYLY, TYPE E2 (OMIM:613382)
..Brooks-Wisniewski-Brown Syndrome (C563154)
..Cantalamessa Baldini Ambrosi syndrome (C537981)
..Cantu Sanchez-Corona Fragoso syndrome (C535571)
..Cataracts, ataxia, short stature, and mental retardation (C535345)
..Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation (C563390)
..Chitty Hall Baraitser syndrome (C535928)
..Chromosome 15q26-Qter Deletion Syndrome (C567232)
..Chromosome 18 Pericentric Inversion (C563734)
..CHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
..Clark-Baraitser syndrome (C536208)
..CODAS syndrome (C536434)
..Coffin syndrome 1 (C536435)
..Contractures ectodermal dysplasia cleft lip palate (C535465)
..Cote Katsantoni syndrome (C536449)
..COUSIN SYNDROME (OMIM:260660)
..Coxoauricular Syndrome (C565148)
..Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age (C566543)
..Crumpled helices and small mouth (C536217)
..Curatolo Cilio Pessagno syndrome (C536701)
..Daish Hardman Lamont syndrome (C535770)
..Dermoids of cornea (C535376)
..Devriendt syndrome (C535947)
..Dubowitz syndrome (C535718)
..Dyschondrosteosis and Nephritis (C565080)
..Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract (C565584)
..Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly (C565032)
..Fallot complex with severe mental and growth retardation (C536608)
..Fetal Growth Retardation (D005317) 25
..Filippi syndrome (C538152)
..Floating-harbor syndrome (C537062)
..FORSYTHE-WAKELING SYNDROME (OMIM:613606)
..Frias syndrome (C535639)
..Game Friedman Paradice syndrome (C535406)
..Gay Feinmesser Cohen syndrome (C537676)
..GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
..GEMSS syndrome (C537679)
..GOMBO syndrome (C537284)
..Gomez Lopez Hernandez syndrome (C537285)
..Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis (C565295)
..Goniodysgenesis-Mental Retardation-Short Stature Syndrome (C564214)
..Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia (C565755)
..Growth Deficiency and Mental Retardation with Facial Dysmorphism (C565358)
..Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..Growth mental deficiency syndrome of Myhre (C537620)
..Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy (C535642)
..Growth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528)
..Hairy elbows (C535618)
..Heme Oxygenase 1 Deficiency (C564200)
..Hersh Podruch Weisskopk syndrome (C538114)
..Hooft disease (C535329)
..Hunter-McAlpine syndrome (C536072)
..Hutterite cerebroosteonephrodysplasia syndrome (C536074)
..Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..Insulin-Like Growth Factor I Deficiency (C563867)
..Insulin-Like Growth Factor I, Resistance To (C564816)
..Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein (C564817)
..Johanson Blizzard syndrome (C535880)
..Jorgenson Lenz syndrome (C536292)
..Kozlowski Rafinski Klicharska syndrome (C537509)
..Krause-Kivlin syndrome (C537617)
..Kuster Majewski Hammerstein syndrome (C538125)
..Ladda Zonana Ramer syndrome (C538135)
..Langer mesomelic dysplasia (C537267)
..Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy (C566379)
..Leri-Weil syndrome (C537119)
..Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..LIG4 Syndrome (C564694)
..Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones (C564283)
..Lowry Maclean syndrome (C537037)
..Lowry Wood syndrome (C537038)
..Macrosomia Adiposa Congenita (C565425)
..Madelung Deformity (C562398)
..Malocclusion and Short Stature (C565421)
..Megarbane syndrome (C536145)
..Meier-Gorlin syndrome (C538012)
..Mental and Growth Retardation with Amblyopia (C563591)
..Mental retardation Mietens Weber type (C537444)
..Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature (C563810)
..Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism (C565246)
..Mental Retardation, X-Linked, with Short Stature (C564527)
..MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
..Mental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
..Microcephaly cervical spine fusion anomalies (C537325)
..Microdontia hypodontia short stature (C537553)
..Milner Khallouf Gibson syndrome (C537473)
..Mitochondrial myopathy with lactic acidosis (C537476)
..Mollica Pavone Antener syndrome (C535809)
..Morillo-Cucci Passarge syndrome (C536983)
..Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..Nathalie syndrome (C538342)
..Neurofaciodigitorenal syndrome (C537388)
..Nijmegen Breakage Syndrome-Like Disorder (C567767)
..Omodysplasia type 1 (C537746)
..Onat syndrome (C537749)
..OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS (OMIM:165800)
..Osteolysis syndrome recessive (C536052)
..Partington Anderson syndrome (C536299)
..Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails (C563941)
..Petty Laxova Wiedemann syndrome (C537886)
..Pfeiffer Kapferer syndrome (C537887)
..Pfeiffer Mayer syndrome (C537888)
..Pfeiffer Palm Teller syndrome (C537889)
..Pili torti developmental delay neurological abnormalities (C537398)
..Pilotto syndrome (C537400)
..Polydysspondyly (C565150)
..Premature aging, Okamoto type (C535270)
..Progeria short stature pigmented nevi (C536422)
..Progeroid Syndrome, Congenital, Petty Type (C567360)
..Qazi Markouizos syndrome (C536259)
..Radioulnar synostosis retinal pigment abnormalities (C536270)
..RAJAB SYNDROME (OMIM:613658)
..Ramon Syndrome (C535285)
..Reardon Wilson Cavanagh syndrome (C535295)
..Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies (C566918)
..Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
..Rodrigues blindness (C535865)
..Rommen Mueller Sybert syndrome (C535871)
..Rowley-Rosenberg syndrome (C535874)
..Say Meyer syndrome (C536620)
..Say syndrome (C536621)
..Schaap Taylor Baraitser syndrome (C536626)
..Schimke X-linked mental retardation syndrome (C536630)
..Seemanova Lesny syndrome (C537536)
..Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation (C566970)
..Short stature syndrome, Brussels type (C537121)
..Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly (C567093)
..Short Stature, Idiopathic, X-Linked (C564479)
..SHORT syndrome (C537327)
..Slavotinek Pike Mills Hurst syndrome (C536672)
..Sonoda syndrome (C536680)
..Spastic paraplegia 9, autosomal dominant (C536868)
..Spondyloepimetaphyseal Dysplasia, Pakistani Type (C567551)
..Spondylometaphyseal dysplasia, 'corner fracture' type (C535793)
..Stern Lubinsky Durrie syndrome (C537488)
..Synostosis of Talus and Calcaneus with Short Stature (C566089)
..Theodor Hertz Goodman syndrome (C536509)
..Thrombocytopenia Robin sequence (C536898)
..Thumb Agenesis, Short Stature, And Immunodeficiency (C564770)
..Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness (C564769)
..Tonoki syndrome (C536967)
..Tsukahara Syndrome (C566376)
..Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency (C564244)
..Vertebral body fusion overgrowth (C536543)
..Viljoen Kallis Voges syndrome (C536349)
..Volcke Soekarman syndrome (C537718)
..Wellesley Carmen French syndrome (C536691)
..Wiedemann Grosse Dibbern syndrome (C536704)
..Winchester syndrome (C536709)
..Wittwer syndrome (C536737)
..Young Hughes syndrome (C536715)
..Zerres Rietschel Majewski syndrome (C536724)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5838

Name:

Insulin-Like Growth Factor I, Resistance To

Definition:

Alternative IDs:

OMIM:270450

ParentIDs:

MESH:D000015|MESH:D006130

TreeNumbers:

C16.131.077/C564816 |C23.550.393/C564816

Synonyms:

IGF-I Resistance |IGF-I RESISTANCE INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DUE TO INCREASED BINDING PROTEIN, INCLUDED |Somatomedin C, Resistance To |SOMATOMEDIN-C, RESISTANCE TO |Somatomedin, End-Organ Insensitivity To

Slim Mappings:

Congenital abnormality|Pathology (process)

Reference:

MedGen: C564816
MeSH: C564816
OMIM: 270450;

Genes: IGF1R;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0003577	Congenital onset
4	HP:0001999	Abnormal facial shape
5	HP:0001547	Abnormal rib cage morphology
6	HP:0000713	Agitation
7	HP:0000739	Anxiety
8	HP:0030084	Clinodactyly
9	HP:0004325	Decreased body weight
10	HP:0002750	Delayed skeletal maturation
11	HP:0000750	Delayed speech and language development
12	HP:0030269	Increased serum insulin-like growth factor 1
13	HP:0001511	Intrauterine growth retardation
14	HP:0000343	Long philtrum
15	HP:0000252	Microcephaly
16	HP:0001270	Motor delay
17	HP:0000767	Pectus excavatum
18	HP:0009466	Radial deviation of finger
19	HP:0004322	Short stature
20	HP:0000319	Smooth philtrum
21	HP:0000219	Thin upper lip vermilion
22	HP:0000431	Wide nasal bridge

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_000875.4(IGF1R):c.265C>T (p.Arg89Ter)	3480	IGF1R	protective	121912428	RCV000015915;	N	MedGen:C1849157,OMIM:270450,ORPHA:73273	15	99250961	99250961	NM_000875.4:c.265C>T	NP_000866.1:p.Arg89Ter	NC_000015.9:g.99250961C>T	OMIM Allelic Variant:147370.0003	C1849157 270450 Insulin-like growth factor 1 resistance to
NM_000875.4(IGF1R):c.413G>A (p.Arg138Gln)	3480	IGF1R	protective	121912426	RCV000015913;	N	MedGen:C1849157,OMIM:270450,ORPHA:73273	15	99251109	99251109	NM_000875.4:c.413G>A	NP_000866.1:p.Arg138Gln	NC_000015.9:g.99251109G>A	OMIM Allelic Variant:147370.0001	C1849157 270450 Insulin-like growth factor 1 resistance to
NM_000875.4(IGF1R):c.435A>C (p.Lys145Asn)	3480	IGF1R	protective	121912427	RCV000015914;	N	MedGen:C1849157,OMIM:270450,ORPHA:73273	15	99251131	99251131	NM_000875.4:c.435A>C	NP_000866.1:p.Lys145Asn	NC_000015.9:g.99251131A>C	OMIM Allelic Variant:147370.0002	C1849157 270450 Insulin-like growth factor 1 resistance to
NM_000875.4(IGF1R):c.1532G>A (p.Arg511Gln)	3480	IGF1R	protective	33958176	RCV000015917;	N	MedGen:C1849157,OMIM:270450,ORPHA:73273	15	99454613	99454613	NM_000875.4:c.1532G>A	NP_000866.1:p.Arg511Gln	NC_000015.9:g.99454613G>A	OMIM Allelic Variant:147370.0005	C1849157 270450 Insulin-like growth factor 1 resistance to
NM_000875.4(IGF1R):c.2216G>A (p.Arg739Gln)	3480	IGF1R	protective	121912429	RCV000015916;	N	MedGen:C1849157,OMIM:270450,ORPHA:73273	15	99465391	99465391	NM_000875.4:c.2216G>A	NP_000866.1:p.Arg739Gln	NC_000015.9:g.99465391G>A	OMIM Allelic Variant:147370.0004	C1849157 270450 Insulin-like growth factor 1 resistance to