MCID: GRW004
MIFTS: 21

Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency malady

Genetic diseases, Rare diseases, Endocrine diseases, Neuronal diseases, Ear diseases, Mental diseases categories

Aliases & Classifications for Growth Retardation with Deafness and Mental Retardation Due to...

About this section
Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 22GTR, 60UMLS, 47Orphanet, 43Novoseek, 26ICD10 via Orphanet
See all sources

Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency, Aliases & Descriptions:

Name: Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency 45 10
Insulin-Like Growth Factor I Deficiency 45 41 20 22 60
Growth Delay Due to Insulin-Like Growth Factor Type 1 Deficiency 41 47
Growth Delay - Deafness- Intellectual Disability 41 47
 
Primary Insulin-Like Growth Factor Deficiency 41 47
Igf-1 Deficiency 41 47
Igf1 Deficiency 41 43
Growth Retardation with Sensorineural Deafness and Mental Retardation 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
growth delay due to insulin-like growth factor type 1 deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 608747
Orphanet47 73272
ICD10 via Orphanet26 E34.3

Summaries for Growth Retardation with Deafness and Mental Retardation Due to...

About this section


MalaCards based summary: Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency, also known as insulin-like growth factor i deficiency, is related to insulin-like growth factor i and amyloidosis, and has symptoms including autosomal recessive inheritance, microcephaly and micrognathia. An important gene associated with Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency is IGF1 (insulin-like growth factor 1 (somatomedin C)).

Description from OMIM:45 608747

Related Diseases for Growth Retardation with Deafness and Mental Retardation Due to...

About this section

Diseases related to Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1insulin-like growth factor i11.0
2amyloidosis10.4

Symptoms for Growth Retardation with Deafness and Mental Retardation Due to...

About this section

Symptoms by clinical synopsis from OMIM:

608747

Clinical features from OMIM:

608747

HPO human phenotypes related to Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency:

(show all 18)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 microcephaly HP:0000252
3 micrognathia HP:0000347
4 sensorineural hearing impairment HP:0000407
5 ptosis HP:0000508
6 short attention span HP:0000736
7 hyperactivity HP:0000752
8 osteopenia HP:0000938
9 intellectual disability HP:0001249
10 motor delay HP:0001270
11 intrauterine growth retardation HP:0001511
12 abnormality of metabolism/homeostasis HP:0001939
13 delayed skeletal maturation HP:0002750
14 congenital onset HP:0003577
15 short stature HP:0004322
16 decreased body weight HP:0004325
17 radial deviation of finger HP:0009466
18 clinodactyly HP:0030084

Drugs & Therapeutics for Growth Retardation with Deafness and Mental Retardation Due to...

About this section

Drug clinical trials:

Search ClinicalTrials for Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency

Search NIH Clinical Center for Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency

Genetic Tests for Growth Retardation with Deafness and Mental Retardation Due to...

About this section

Genetic tests related to Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency:

id Genetic test Affiliating Genes
1 Insulin-Like Growth Factor I Deficiency20 22 IGF1

Anatomical Context for Growth Retardation with Deafness and Mental Retardation Due to...

About this section

Animal Models for Growth Retardation with Deafness and Mental Retardation Due to... or affiliated genes

About this section

Publications for Growth Retardation with Deafness and Mental Retardation Due to...

About this section

Variations for Growth Retardation with Deafness and Mental Retardation Due to...

About this section

Clinvar genetic disease variations for Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1IGF1NM_001111283.1(IGF1): c.292C> T (p.Arg98Trp)single nucleotide variantPathogenicGRCh37Chr 12, 102813397: 102813397
2IGF1IGF1, EX4,5 DELdeletionPathogenic
3IGF1IGF1, MUTATION IN POLYADENYLATION SIGNAL, T-Asingle nucleotide variantPathogenic
4IGF1NM_001111283.1(IGF1): c.274G> A (p.Val92Met)single nucleotide variantPathogenicrs121912430GRCh37Chr 12, 102813415: 102813415

Expression for genes affiliated with Growth Retardation with Deafness and Mental Retardation Due to...

About this section
Search GEO for disease gene expression data for Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency.

Pathways for genes affiliated with Growth Retardation with Deafness and Mental Retardation Due to...

About this section

Compounds for genes affiliated with Growth Retardation with Deafness and Mental Retardation Due to...

About this section

GO Terms for genes affiliated with Growth Retardation with Deafness and Mental Retardation Due to...

About this section

Products for genes affiliated with Growth Retardation with Deafness and Mental Retardation Due to...

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Growth Retardation with Deafness and Mental Retardation Due to...

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet