Phenotype: Decreased serum insulin-like growth factor 1 (HP:0030353)
Associated genes and diseases:
gene_symbol: MED12
disease_id: OMIM:301068
disease_name: HARDIKAR SYNDROME
gene_symbol: GALT
disease_id: ORPHA:79239
disease_name: Classic galactosemia
GALT deficiency
Galactose-1-phosphate uridyltransferase deficiency
Galactosemia type 1
gene_symbol: SIK3
disease_id: OMIM:618162
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE
gene_symbol: RBM28
disease_id: ORPHA:157954
disease_name: ANE syndrome
Alopecia-progressive neurological defect-endocrinopathy syndrome
gene_symbol: NFKB2
disease_id: ORPHA:293978
disease_name: Deficiency in anterior pituitary function-variable immunodeficiency syndrome
DAVID syndrome
gene_symbol: SMPD1
disease_id: ORPHA:77293
disease_name: Chronic visceral acid sphingomyelinase deficiency
Chronic visceral ASMD
NPD-B
Niemann-Pick disease type B
gene_symbol: KIAA0753
disease_id: OMIM:619476
disease_name: JOUBERT SYNDROME 38
gene_symbol: DNA2
disease_id: OMIM:620819
disease_name: ROTHMUND-THOMSON SYNDROME, TYPE 4
gene_symbol: IGFALS
disease_id: ORPHA:140941
disease_name: Short stature due to primary acid-labile subunit deficiency
gene_symbol: IGFALS
disease_id: OMIM:615961
disease_name: ACID-LABILE SUBUNIT DEFICIENCY
gene_symbol: STAT5B
disease_id: OMIM:618985
disease_name: GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT
gene_symbol: PGM1
disease_id: OMIM:614921
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It
gene_symbol: GH1
disease_id: OMIM:173100
disease_name: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II
gene_symbol: GH1
disease_id: OMIM:262400
disease_name: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA
gene_symbol: ROBO1
disease_id: OMIM:620303
disease_name: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 8
gene_symbol: GHR
disease_id: ORPHA:314802
disease_name: Short stature due to partial GHR deficiency
Short stature due to partial growth hormone receptor deficiency
gene_symbol: GHR
disease_id: OMIM:604271
disease_name: GROWTH HORMONE INSENSITIVITY, PARTIAL
gene_symbol: GHR
disease_id: OMIM:262500
disease_name: LARON SYNDROME
gene_symbol: MPDU1
disease_id: ORPHA:79323
disease_name: MPDU1-CDG
CDG syndrome type If
CDG-If
CDG1F
Carbohydrate deficient glycoprotein syndrome type If
Congenital disorder of glycosylation type 1f
Congenital disorder of glycosylation type If
gene_symbol: ALG12
disease_id: ORPHA:79324
disease_name: ALG12-CDG
CDG syndrome type Ig
CDG-Ig
CDG1G
Carbohydrate deficient glycoprotein syndrome type Ig
Congenital disorder of glycosylation type 1g
Congenital disorder of glycosylation type Ig
Mannosyltransferase 8 deficiency
gene_symbol: CTSK
disease_id: ORPHA:763
disease_name: Pycnodysostosis
Pyknodysostosis
gene_symbol: IGF1
disease_id: OMIM:608747
disease_name: INSULIN-LIKE GROWTH FACTOR I DEFICIENCY
gene_symbol: DCAF17
disease_id: OMIM:241080
disease_name: WOODHOUSE-SAKATI SYNDROME
gene_symbol: GHRHR
disease_id: OMIM:618157
disease_name: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV
gene_symbol: SOX3
disease_id: ORPHA:67045
disease_name: X-linked intellectual disability with isolated growth hormone deficiency
MRGH
gene_symbol: ADAT3
disease_id: ORPHA:363528
disease_name: Intellectual disability-strabismus syndrome
gene_symbol: MCTP2
disease_id: ORPHA:1596
disease_name: Distal deletion 15q syndrome
15q26 deletion syndrome
Distal monosomy 15q
Monosomy 15q26
Telomeric 15q deletion syndrome
gene_symbol: GHSR
disease_id: ORPHA:314811
disease_name: Short stature due to GHSR deficiency
Ghrelin receptor deficiency
Short stature due to growth hormone secretagogue receptor deficiency