Growth delay due to insulin-like growth factor I resistance

General Information (adopted from Orphanet):

Synonyms, Signs: SOMATOMEDIN-C, RESISTANCE TO
IGF-I RESISTANCE INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DUE TO INCREASED BINDING PROTEIN, INCLUDED
SOMATOMEDIN, END-ORGAN INSENSITIVITY TO
Resistance to IGF-1
Number of Symptoms 39
OrphanetNr: 73273
OMIM Id: 270450
ICD-10: E34.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Growth hormone insensitivity syndrome
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000232) Everted lower lip vermilion Frequent [Orphanet] 90 / 7739
2
 (HPO:0000233) Thin vermilion border Frequent [Orphanet] 124 / 7739
3
 (HPO:0000343) Long philtrum 262 / 7739
4
 (HPO:0000271) Abnormality of the face 108 / 7739
5
 (HPO:0000288) Abnormality of the philtrum Frequent [Orphanet] 54 / 7739
6
 (HPO:0000319) Smooth philtrum 72 / 7739
7
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
8
 (HPO:0001999) Abnormal facial shape 169 / 7739
9
 (HPO:0000431) Wide nasal bridge Frequent [Orphanet] 290 / 7739
10
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
11
 (HPO:0000713) Agitation 18 / 7739
12
 (HPO:0001270) Motor delay 322 / 7739
13
 (HPO:0000750) Delayed speech and language development 197 / 7739
14
 (HPO:0000739) Anxiety 67 / 7739
15
 (HPO:0004404) Abnormality of the nipple Frequent [Orphanet] 54 / 7739
16
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
17
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
18
 (HPO:0001547) Abnormality of the rib cage 25 / 7739
19
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
20
 (HPO:0009466) Radial deviation of finger 101 / 7739
21
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
22
 (HPO:0004325) Decreased body weight 492 / 7739
23
 (HPO:0001510) Growth delay 295 / 7739
24
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
25
 (HPO:0030084) Clinodactyly 90 / 7739
26
 (MedDRA:10058668) Clinodactyly 91 / 7739
27
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
28
 (OMIM) Fleshy lower lip 1 / 7739
29
 (OMIM) Increased or normal serum growth hormone (GH, 139250) 1 / 7739
30
 (HPO:0030269) Increased serum insulin-like growth factor 1 {comment="HPO:probinson"} 2 / 7739
31
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
32
 (OMIM) Obsessive tendencies 1 / 7739
33
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
34
 (OMIM) Long smooth philtrum 9 / 7739
35
 (OMIM) Receding hairline 1 / 7739
36
 (OMIM) Anxious affect 1 / 7739
37
 (OMIM) Increased serum insulin-like growth factor-1 (IGF1, 147740) 1 / 7739
38
 (OMIM) Wide-set nipples 1 / 7739
39
 (HPO:0003577) Congenital onset 133 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lanes et al. (1980) described a 10-year-old white boy with growth deficiency. Growth hormone (GH; 139250) stimulation tests yielded normal results. Somatomedin-C levels (IGF1; 147440), measured by three methods, were very high, suggesting end-organ insensitivity to somatomedin-C. An ...
Molecular genetics OMIM Among 50 children with short stature and elevated serum IGF1, Abuzzahab et al. (2003) identified a boy with a heterozygous nonsense mutation in the IGF1R gene (147370.0003) that reduced the number of IGF1 receptors on fibroblasts. His mother ...