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Disease Profile
Insulin-like growth factor 1 resistance to
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Infancy
ICD-10
E34.3
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Somatomedin end-organ insensitivity to; Somatomedin-c resistance to; IGF-1 resistance
Categories
Congenital and Genetic Diseases; Endocrine Diseases
Summary
Orpha Number: 73273
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Decreased body height
Small stature
[ more ] |
0004322 | |
30%-79% of people have these symptoms | ||
Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ] |
0000455 |
Clinodactyly |
Permanent curving of the finger
|
0030084 |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Motor delay | 0001270 | |
Pectus excavatum |
Funnel chest
|
0000767 |
Short palm | 0004279 | |
Smooth philtrum | 0000319 | |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ] |
0000233 |
Wide intermamillary distance |
Widely spaced nipples
Wide-spaced nipples
Widely-spaced nipples
[ more ] |
0006610 |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal rib cage morphology |
Abnormality of the rib cage
|
0001547 |
Agitation | 0000713 | |
Anxiety |
Excessive, persistent worry and fear
|
0000739 |
0000006 | ||
0000007 | ||
Symptoms present at birth
|
0003577 | |
Decreased body weight |
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile
[ more ] |
0004325 |
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ] |
0000490 |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
0000819 | ||
Global |
0001263 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
High pitched voice | 0001620 | |
Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ] |
0002553 |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Increased serum insulin-like growth factor 1 | 0030269 | |
Lipodystrophy |
Inability to make and keep healthy fat tissue
|
0009125 |
Long philtrum | 0000343 | |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Narrow mouth |
Small mouth
|
0000160 |
Patent foramen ovale | 0001655 | |
Radial deviation of finger | 0009466 | |
Reduced subcutaneous adipose |
Reduced fat tissue below the skin
|
0003758 |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
0000278 |
Rieger anomaly | 0000558 | |
Sandal gap |
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ] |
0001852 |
Short foot |
Short feet
Small feet
[ more ] |
0001773 |
Small hand |
Disproportionately small hands
|
0200055 |
Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ] |
0002209 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Synophrys |
Monobrow
Unibrow
[ more ] |
0000664 |
Triangular face |
Face with broad temples and narrow chin
Triangular facial shape
[ more ] |
0000325
DiagnosisMaking a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. In-Depth Information
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