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Growth delay due to insulin-like growth factor I resistance(IGF1RES)

MedGen UID:
338622
Concept ID:
C1849157
Disease or Syndrome
Synonyms: IGF-1 resistance; IGF-I RESISTANCE; Insulin-like growth factor 1 resistance to; Insulin-Like Growth Factor I Resistance; Insulin-Like Growth Factor I, Resistance to; Somatomedin end-organ insensitivity to; Somatomedin-c resistance to
SNOMED CT: Growth delay due to insulin-like growth factor I resistance (715625007); Growth delay due to insulin-like growth factor 1 resistance (715625007); IGF-1 (insulin-like growth factor 1) resistance (715625007); Somatomedin C resistance (715625007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): IGF1R (15q26.3)
 
Monarch Initiative: MONDO:0010038
OMIM®: 270450
Orphanet: ORPHA73273

Definition

Patients with mutations in the receptor for insulin-like growth factor I show intrauterine growth retardation and postnatal growth failure, resulting in short stature and microcephaly. Other features may include delayed bone age, developmental delay, and dysmorphic features. [from OMIM]

Clinical features

From HPO
Small hand
MedGen UID:
108279
Concept ID:
C0575802
Finding
Disproportionately small hand.
Radial deviation of finger
MedGen UID:
322852
Concept ID:
C1836189
Finding
Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Sandal gap
MedGen UID:
374376
Concept ID:
C1840069
Finding
A widely spaced gap between the first toe (the great toe) and the second toe.
Short finger
MedGen UID:
334977
Concept ID:
C1844548
Anatomical Abnormality
Abnormally short finger associated with developmental hypoplasia.
Short foot
MedGen UID:
376415
Concept ID:
C1848673
Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Clinodactyly
MedGen UID:
1644094
Concept ID:
C4551485
Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Patent foramen ovale
MedGen UID:
8891
Concept ID:
C0016522
Congenital Abnormality
Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Severe short stature
MedGen UID:
3931
Concept ID:
C0013336
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Truncal obesity
MedGen UID:
1637490
Concept ID:
C4551560
Finding
Obesity located preferentially in the trunk of the body as opposed to the extremities.
Decreased body weight
MedGen UID:
1806755
Concept ID:
C5574742
Finding
Abnormally low body weight.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
Agitation
MedGen UID:
88447
Concept ID:
C0085631
Sign or Symptom
A state of extreme restlessness and excessive motor activity is associated with mental distress or a feeling of inner tension.
High pitched voice
MedGen UID:
66836
Concept ID:
C0241703
Finding
An abnormal increase in the pitch (frequency) of the voice.
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Underdevelopment of the corpus callosum.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Lipodystrophy
MedGen UID:
6111
Concept ID:
C0023787
Disease or Syndrome
Degenerative changes of the fat tissue.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Retrognathia
MedGen UID:
19766
Concept ID:
C0035353
Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
Delayed skeletal maturation
MedGen UID:
108148
Concept ID:
C0541764
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Reduced subcutaneous adipose tissue
MedGen UID:
387876
Concept ID:
C1857657
Finding
A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Abnormal rib cage morphology
MedGen UID:
871275
Concept ID:
C4025763
Anatomical Abnormality
A morphological anomaly of the rib cage.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Diabetes mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Narrow mouth
MedGen UID:
44435
Concept ID:
C0026034
Congenital Abnormality
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
Webbed neck
MedGen UID:
113154
Concept ID:
C0221217
Congenital Abnormality
Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Upslanted palpebral fissure
MedGen UID:
98390
Concept ID:
C0423109
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Abnormal facial shape
MedGen UID:
98409
Concept ID:
C0424503
Finding
An abnormal morphology (form) of the face or its components.
Smooth philtrum
MedGen UID:
222980
Concept ID:
C1142533
Finding
Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.
Triangular face
MedGen UID:
324383
Concept ID:
C1835884
Finding
Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Thick eyebrow
MedGen UID:
377914
Concept ID:
C1853487
Finding
Increased density/number and/or increased diameter of eyebrow hairs.
Sparse scalp hair
MedGen UID:
346499
Concept ID:
C1857042
Finding
Decreased number of hairs per unit area of skin of the scalp.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Thin upper lip vermilion
MedGen UID:
355352
Concept ID:
C1865017
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Highly arched eyebrow
MedGen UID:
358357
Concept ID:
C1868571
Finding
Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
Synophrys
MedGen UID:
98132
Concept ID:
C0431447
Congenital Abnormality
Meeting of the medial eyebrows in the midline.
Increased circulating insulin-like growth factor 1 concentration
MedGen UID:
390982
Concept ID:
C2676198
Finding
An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation.
Wide intermamillary distance
MedGen UID:
473489
Concept ID:
C1827524
Finding
A larger than usual distance between the left and right nipple.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Rieger anomaly
MedGen UID:
78558
Concept ID:
C0265341
Disease or Syndrome
Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed. The iris normally has a single central hole, called the pupil, through which light enters the eye. People with Axenfeld-Rieger syndrome often have a pupil that is off-center (corectopia) or extra holes in the iris that can look like multiple pupils (polycoria). This condition can also cause abnormalities of the cornea, which is the clear front covering of the eye.\n\nAbout half of affected individuals develop glaucoma, a serious condition that increases pressure inside the eye. When glaucoma occurs with Axenfeld-Rieger syndrome, it most often develops in late childhood or adolescence, although it can occur as early as infancy. Glaucoma can cause vision loss or blindness.\n\nThe signs and symptoms of Axenfeld-Rieger syndrome can also affect other parts of the body. Many affected individuals have distinctive facial features such as widely spaced eyes (hypertelorism); a flattened mid-face with a broad, flat nasal bridge; and a prominent forehead. The condition is also associated with dental abnormalities including unusually small teeth (microdontia) or fewer than normal teeth (oligodontia). Some people with Axenfeld-Rieger syndrome have extra folds of skin around their belly button (redundant periumbilical skin). Other, less common features can include heart defects, the opening of the urethra on the underside of the penis (hypospadias), narrowing of the anus (anal stenosis), and abnormalities of the pituitary gland that can result in slow growth.\n\nResearchers have described at least three types of Axenfeld-Rieger syndrome. The types, which are numbered 1 through 3, are distinguished by their genetic cause.
Deeply set eye
MedGen UID:
473112
Concept ID:
C0423224
Finding
An eye that is more deeply recessed into the plane of the face than is typical.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGrowth delay due to insulin-like growth factor I resistance
Follow this link to review classifications for Growth delay due to insulin-like growth factor I resistance in Orphanet.

Professional guidelines

PubMed

Puig-Domingo M, Bernabéu I, Picó A, Biagetti B, Gil J, Alvarez-Escolá C, Jordà M, Marques-Pamies M, Soldevila B, Gálvez MA, Cámara R, Aller J, Lamas C, Marazuela M
Front Endocrinol (Lausanne) 2021;12:648411. Epub 2021 Mar 16 doi: 10.3389/fendo.2021.648411. PMID: 33796079Free PMC Article
Yuen KC, Dunger DB
Growth Horm IGF Res 2006 Jul;16 Suppl A:S55-61. Epub 2006 Apr 18 doi: 10.1016/j.ghir.2006.03.001. PMID: 16624605
Laron Z, Avitzur Y, Klinger B
Metabolism 1995 Oct;44(10 Suppl 4):113-8. doi: 10.1016/0026-0495(95)90231-7. PMID: 7476303

Recent clinical studies

Etiology

Wang X, Ding S
Pathol Res Pract 2021 Nov;227:153641. Epub 2021 Sep 29 doi: 10.1016/j.prp.2021.153641. PMID: 34619575
Bartke A
Rev Endocr Metab Disord 2021 Mar;22(1):71-80. Epub 2020 Oct 1 doi: 10.1007/s11154-020-09593-2. PMID: 33001358
Domené S, Domené HM
Mol Cell Endocrinol 2020 Dec 1;518:111006. Epub 2020 Aug 27 doi: 10.1016/j.mce.2020.111006. PMID: 32861700
Lee WS, Kim J
Biochim Biophys Acta Mol Basis Dis 2018 May;1864(5 Pt B):1931-1938. Epub 2017 Aug 25 doi: 10.1016/j.bbadis.2017.08.029. PMID: 28847512
Bartke A, List EO, Kopchick JJ
Growth Horm IGF Res 2016 Apr;27:41-45. Epub 2016 Feb 16 doi: 10.1016/j.ghir.2016.02.002. PMID: 26925766Free PMC Article

Diagnosis

Janssen JAMJL
Int J Mol Sci 2021 Jul 21;22(15) doi: 10.3390/ijms22157797. PMID: 34360563Free PMC Article
Dong Z, Sinha R, Richie JP Jr
Ann N Y Acad Sci 2018 Apr;1418(1):44-55. Epub 2018 Feb 5 doi: 10.1111/nyas.13584. PMID: 29399808
Bartke A, Darcy J
Best Pract Res Clin Endocrinol Metab 2017 Feb;31(1):113-125. Epub 2017 Feb 24 doi: 10.1016/j.beem.2017.02.005. PMID: 28477727Free PMC Article
Ertorer ME, Bakiner O, Anaforoglu I, Bozkirli E, Tutuncu NB, Demirag NG
Neuro Endocrinol Lett 2007 Dec;28(6):727-33. PMID: 18063933
Bartke A, Chandrashekar V, Dominici F, Turyn D, Kinney B, Steger R, Kopchick JJ
Biogerontology 2003;4(1):1-8. doi: 10.1023/a:1022448532248. PMID: 12652183

Therapy

Wang X, Ding S
Pathol Res Pract 2021 Nov;227:153641. Epub 2021 Sep 29 doi: 10.1016/j.prp.2021.153641. PMID: 34619575
Puig-Domingo M, Bernabéu I, Picó A, Biagetti B, Gil J, Alvarez-Escolá C, Jordà M, Marques-Pamies M, Soldevila B, Gálvez MA, Cámara R, Aller J, Lamas C, Marazuela M
Front Endocrinol (Lausanne) 2021;12:648411. Epub 2021 Mar 16 doi: 10.3389/fendo.2021.648411. PMID: 33796079Free PMC Article
Dong Z, Sinha R, Richie JP Jr
Ann N Y Acad Sci 2018 Apr;1418(1):44-55. Epub 2018 Feb 5 doi: 10.1111/nyas.13584. PMID: 29399808
Bartke A, Darcy J
Best Pract Res Clin Endocrinol Metab 2017 Feb;31(1):113-125. Epub 2017 Feb 24 doi: 10.1016/j.beem.2017.02.005. PMID: 28477727Free PMC Article
Cappa M, Caruso M, Saggese G, Salerno MC, Tonini G
Minerva Endocrinol 2015 Mar;40(1):23-35. PMID: 25660320

Prognosis

Coutinho LA, Leão LL, Cassilhas RC, de Paula AMB, Deslandes AC, Monteiro-Junior RS
Exp Gerontol 2022 Oct 15;168:111948. Epub 2022 Sep 7 doi: 10.1016/j.exger.2022.111948. PMID: 36087875
Wang X, Ding S
Pathol Res Pract 2021 Nov;227:153641. Epub 2021 Sep 29 doi: 10.1016/j.prp.2021.153641. PMID: 34619575
Jensen RB, Bytoft B, Lohse Z, Johnsen SK, Nielsen MF, Oturai PS, Højlund K, Damm P, Clausen TD, Jensen DM
J Clin Endocrinol Metab 2021 Jan 23;106(2):e772-e781. doi: 10.1210/clinem/dgaa861. PMID: 33236084
Zhang DL, Du Q, Djemli A, Julien P, Fraser WD, Luo ZC
Diabet Med 2018 Oct;35(10):1412-1419. Epub 2018 May 31 doi: 10.1111/dme.13671. PMID: 29766568
Ertorer ME, Bakiner O, Anaforoglu I, Bozkirli E, Tutuncu NB, Demirag NG
Neuro Endocrinol Lett 2007 Dec;28(6):727-33. PMID: 18063933

Clinical prediction guides

Coutinho LA, Leão LL, Cassilhas RC, de Paula AMB, Deslandes AC, Monteiro-Junior RS
Exp Gerontol 2022 Oct 15;168:111948. Epub 2022 Sep 7 doi: 10.1016/j.exger.2022.111948. PMID: 36087875
Pierce JR, Martin BJ, Rarick KR, Alemany JA, Staab JS, Kraemer WJ, Hymer WC, Nindl BC
Front Endocrinol (Lausanne) 2020;11:571. Epub 2020 Aug 21 doi: 10.3389/fendo.2020.00571. PMID: 32973684Free PMC Article
Domené S, Domené HM
Mol Cell Endocrinol 2020 Dec 1;518:111006. Epub 2020 Aug 27 doi: 10.1016/j.mce.2020.111006. PMID: 32861700
Dong Z, Sinha R, Richie JP Jr
Ann N Y Acad Sci 2018 Apr;1418(1):44-55. Epub 2018 Feb 5 doi: 10.1111/nyas.13584. PMID: 29399808
Soliman AT, Ramadan MA, Sherif A, Aziz Bedair ES, Rizk MM
Metabolism 2001 Aug;50(8):905-11. doi: 10.1053/meta.2001.24924. PMID: 11474477

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