IGHD1B
MCID: ISL015
MIFTS: 45

Isolated Growth Hormone Deficiency, Type Ib (IGHD1B)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Isolated Growth Hormone Deficiency, Type Ib

MalaCards integrated aliases for Isolated Growth Hormone Deficiency, Type Ib:

Name: Isolated Growth Hormone Deficiency, Type Ib 57 73
Isolated Growth Hormone Deficiency Type Ib 12 59 75 15
Growth Hormone Deficiency, Isolated, Type Ib 57 13 40
Isolated Growth Hormone Deficiency Type 1b 53 29 6
Dwarfism of Sindh 12 53 75
Ighd Ib 57 12 75
Ighd1b 57 53 75
Congenital Isolated Growth Hormone Deficiency Type Ib 12 59
Congenital Isolated Gh Deficiency Type Ib 12 59
Congenital Ighd Type Ib 12 59
Pituitary Dwarfism I 75 73
Growth Hormone Deficiency, Isolated, 1b 75
Ighd 1b 53

Characteristics:

Orphanet epidemiological data:

59
isolated growth hormone deficiency type ib
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

32
isolated growth hormone deficiency, type ib:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

OMIM 57 612781
Disease Ontology 12 DOID:0060874
ICD10 33 E23.0
Orphanet 59 ORPHA231671
UMLS via Orphanet 74 C2748571
ICD10 via Orphanet 34 E23.0
MedGen 42 C2748571
MeSH 44 D004393

Summaries for Isolated Growth Hormone Deficiency, Type Ib

OMIM : 57 IGHD type IB is an autosomal recessive disorder characterized by low but detectable levels of GH, short stature (more than 2 SD below the mean for age and sex), delayed bone age, and a good response to rhGH treatment without antibody formation (summary by Alatzoglou et al., 2014). For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see 262400. (612781)

MalaCards based summary : Isolated Growth Hormone Deficiency, Type Ib, also known as isolated growth hormone deficiency type ib, is related to isolated growth hormone deficiency and laron syndrome. An important gene associated with Isolated Growth Hormone Deficiency, Type Ib is GHRHR (Growth Hormone Releasing Hormone Receptor), and among its related pathways/superpathways are NF-KappaB Family Pathway and Regulation of lipid metabolism Insulin signaling-generic cascades. The drug Hormones has been mentioned in the context of this disorder. Affiliated tissues include bone, pituitary and brain, and related phenotypes are delayed skeletal maturation and short stature

Disease Ontology : 12 An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.

UniProtKB/Swiss-Prot : 75 Growth hormone deficiency, isolated, 1B: An autosomal recessive deficiency of growth hormone leading to short stature. Patients have low but detectable levels of growth hormone, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy.

Related Diseases for Isolated Growth Hormone Deficiency, Type Ib

Diseases related to Isolated Growth Hormone Deficiency, Type Ib via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency 31.9 GH1 GHR GHRH GHRHR IGF1
2 laron syndrome 31.5 GH1 GHR IGF1 IGFBP3
3 dwarfism 29.7 GH1 GHR GHRH GHRHR
4 growth hormone deficiency 29.6 GH1 GHRH GHRHR IGF1 IGFBP3
5 isolated growth hormone deficiency, type iv 11.6
6 isolated growth hormone deficiency, type ia 11.6
7 pituitary stalk interruption syndrome 10.1 GH1 GHRHR
8 non-functioning pituitary adenoma 10.1 GH1 GHR
9 functioning pituitary adenoma 10.1 GH1 GHR
10 hypothalamic disease 10.1 GH1 GHRH
11 gigantism 10.1 GH1 GHRH
12 tsh producing pituitary tumor 10.1 GH1 GHRH
13 chromophobe adenoma 10.1 GH1 GHRH
14 pseudohypoparathyroidism, type ia 10.0 GH1 IGF1
15 empty sella syndrome 10.0 GH1 IGF1
16 cone-rod dystrophy 12 10.0 GH1 IGF1
17 pituitary-dependent cushing's disease 10.0 GHR GHRH
18 traumatic brain injury 10.0 GH1 IGF1
19 hypothyroidism, congenital, nongoitrous, 4 10.0 GH1 IGF1
20 pituitary tumors 10.0 GH1 IGF1
21 carcinoid syndrome 10.0 GHRH IGF1
22 mccune-albright syndrome 10.0 GH1 IGF1
23 acromesomelic dysplasia, maroteaux type 10.0 GHR IGF1
24 fibrous dysplasia 10.0 GH1 IGF1
25 hyperprolactinemia 10.0 GH1 IGF1
26 craniopharyngioma 10.0 GH1 IGF1
27 pituitary adenoma, prolactin-secreting 10.0 GH1 IGF1
28 cell type benign neoplasm 9.9 GHRH IGF1
29 slipped capital femoral epiphysis 9.9 IGF1 IGFBP3
30 secondary adrenal insufficiency 9.9 IGF1 IGFBP3
31 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 9.9 IGF1 IGFBP3
32 diffuse idiopathic skeletal hyperostosis 9.9 IGF1 IGFBP3
33 mammographic density 9.9 IGF1 IGFBP3
34 acid-labile subunit deficiency 9.9 IGF1 IGFBP3
35 gonadal disease 9.9 GH1 IGF1
36 fetal macrosomia 9.9 IGF1 IGFBP3
37 osteoporosis, juvenile 9.9 IGF1 IGFBP3
38 pituitary hormone deficiency, combined, 2 9.9 GH1 GHR IGF1
39 pituitary gland disease 9.9 GH1 GHRH IGF1
40 osteogenesis imperfecta, type i 9.9 IGF1 IGFBP3
41 exudative vitreoretinopathy 1 9.8 IGF1 IGFBP3
42 colorectal adenoma 9.8 IGF1 IGFBP3
43 nutritional deficiency disease 9.8 IGF1 IGFBP3
44 male reproductive organ cancer 9.8 IGF1 IGFBP3
45 male reproductive system disease 9.8 IGF1 IGFBP3
46 marasmus 9.8 GH1 IGF1 IGFBP3
47 pituitary adenoma 1, multiple types 9.8 GH1 IGF1 IGFBP3
48 silver-russell syndrome 9.7 GH1 IGF1 IGFBP3
49 hyperinsulinism 9.7 GH1 IGF1 IGFBP3
50 hypothyroidism 9.7 GH1 IGF1 IGFBP3

Graphical network of the top 20 diseases related to Isolated Growth Hormone Deficiency, Type Ib:



Diseases related to Isolated Growth Hormone Deficiency, Type Ib

Symptoms & Phenotypes for Isolated Growth Hormone Deficiency, Type Ib

Clinical features from OMIM:

612781

Human phenotypes related to Isolated Growth Hormone Deficiency, Type Ib:

32
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 32 HP:0002750
2 short stature 32 HP:0004322
3 growth hormone deficiency 32 HP:0000824

MGI Mouse Phenotypes related to Isolated Growth Hormone Deficiency, Type Ib:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.46 GHR GHRHR IGF1 IGFBP3
2 endocrine/exocrine gland MP:0005379 9.35 GHR GHRH GHRHR IGF1 IGFBP3
3 limbs/digits/tail MP:0005371 8.92 GHR GHRHR IGF1 IGFBP3

Drugs & Therapeutics for Isolated Growth Hormone Deficiency, Type Ib

Drugs for Isolated Growth Hormone Deficiency, Type Ib (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Pituitary Size and Function in Familial Dwarfism of Sindh Completed NCT00004365

Search NIH Clinical Center for Isolated Growth Hormone Deficiency, Type Ib

Genetic Tests for Isolated Growth Hormone Deficiency, Type Ib

Genetic tests related to Isolated Growth Hormone Deficiency, Type Ib:

# Genetic test Affiliating Genes
1 Isolated Growth Hormone Deficiency Type 1b 29 GH1 GHRHR

Anatomical Context for Isolated Growth Hormone Deficiency, Type Ib

MalaCards organs/tissues related to Isolated Growth Hormone Deficiency, Type Ib:

41
Bone, Pituitary, Brain, Pineal

Publications for Isolated Growth Hormone Deficiency, Type Ib

Articles related to Isolated Growth Hormone Deficiency, Type Ib:

# Title Authors Year
1
A Novel Variant c.97C>T of the Growth Hormone Releasing Hormone Receptor Gene Causes Isolated Growth Hormone Deficiency Type Ib ( 29537382 )
2018
2
A surprising treatment response in a patient with rare isolated growth hormone deficiency, type IB. ( 29147571 )
2017
3
Mutation analysis of the muscarinic cholinergic receptor genes in isolated growth hormone deficiency type IB. ( 19417035 )
2009

Variations for Isolated Growth Hormone Deficiency, Type Ib

UniProtKB/Swiss-Prot genetic disease variations for Isolated Growth Hormone Deficiency, Type Ib:

75 (show all 17)
# Symbol AA change Variation ID SNP ID
1 GH1 p.Leu16Pro VAR_015801
2 GH1 p.Asp37Asn VAR_015802
3 GH1 p.Arg42Cys VAR_015803 rs71640273
4 GH1 p.Thr53Ile VAR_015804
5 GH1 p.Lys67Arg VAR_015805
6 GH1 p.Asn73Asp VAR_015806 rs71640276
7 GH1 p.Ser97Phe VAR_015807
8 GH1 p.Glu100Lys VAR_015808
9 GH1 p.Gln117Leu VAR_015810
10 GH1 p.Ser134Cys VAR_015811
11 GH1 p.Ser134Arg VAR_015812
12 GH1 p.Thr201Ala VAR_015814
13 GHRHR p.Leu144His VAR_015796 rs121918118
14 GHRHR p.Ala176Val VAR_015797 rs774281185
15 GHRHR p.Ala222Glu VAR_015798 rs121918120
16 GHRHR p.Phe242Cys VAR_015799 rs121918119
17 GHRHR p.Lys329Glu VAR_015800 rs121918121

ClinVar genetic disease variations for Isolated Growth Hormone Deficiency, Type Ib:

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 GH1 NM_000515.4(GH1): c.456+1G> C single nucleotide variant Pathogenic rs797044449 GRCh37 Chromosome 17, 61995119: 61995119
2 GH1 NM_000515.4(GH1): c.456+1G> C single nucleotide variant Pathogenic rs797044449 GRCh38 Chromosome 17, 63917759: 63917759
3 GH1 NM_000515.4(GH1): c.456+1G> T single nucleotide variant Pathogenic rs797044449 GRCh38 Chromosome 17, 63917759: 63917759
4 GH1 NM_000515.4(GH1): c.456+1G> T single nucleotide variant Pathogenic rs797044449 GRCh37 Chromosome 17, 61995119: 61995119
5 GH1 NM_000515.4(GH1): c.456+5G> C single nucleotide variant Pathogenic rs863223308 GRCh38 Chromosome 17, 63917755: 63917755
6 GH1 NM_000515.4(GH1): c.456+5G> C single nucleotide variant Pathogenic rs863223308 GRCh37 Chromosome 17, 61995115: 61995115
7 GHRHR NM_000823.3(GHRHR): c.214G> T (p.Glu72Ter) single nucleotide variant Pathogenic rs121918117 GRCh37 Chromosome 7, 31008731: 31008731
8 GHRHR NM_000823.3(GHRHR): c.214G> T (p.Glu72Ter) single nucleotide variant Pathogenic rs121918117 GRCh38 Chromosome 7, 30969116: 30969116
9 GHRHR GHRHR, IVS1, G-A, +1 single nucleotide variant Pathogenic
10 GHRHR NM_000823.3(GHRHR): c.431T> A (p.Leu144His) single nucleotide variant Pathogenic rs121918118 GRCh37 Chromosome 7, 31010798: 31010798
11 GHRHR NM_000823.3(GHRHR): c.431T> A (p.Leu144His) single nucleotide variant Pathogenic rs121918118 GRCh38 Chromosome 7, 30971183: 30971183
12 GHRHR NM_000823.3(GHRHR): c.725T> G (p.Phe242Cys) single nucleotide variant Pathogenic rs121918119 GRCh37 Chromosome 7, 31013727: 31013727
13 GHRHR NM_000823.3(GHRHR): c.725T> G (p.Phe242Cys) single nucleotide variant Pathogenic rs121918119 GRCh38 Chromosome 7, 30974112: 30974112
14 GHRHR NM_000823.3(GHRHR): c.665C> A (p.Ala222Glu) single nucleotide variant Pathogenic rs121918120 GRCh37 Chromosome 7, 31013667: 31013667
15 GHRHR NM_000823.3(GHRHR): c.665C> A (p.Ala222Glu) single nucleotide variant Pathogenic rs121918120 GRCh38 Chromosome 7, 30974052: 30974052
16 GHRHR NM_000823.3(GHRHR): c.985A> G (p.Lys329Glu) single nucleotide variant Pathogenic rs121918121 GRCh37 Chromosome 7, 31016054: 31016054
17 GHRHR NM_000823.3(GHRHR): c.985A> G (p.Lys329Glu) single nucleotide variant Pathogenic rs121918121 GRCh38 Chromosome 7, 30976439: 30976439
18 GHRHR GHRHR, -124A-C, PROMOTER single nucleotide variant Pathogenic
19 GHRHR NG_021416.1: g.615_8308del7694insAGAGATCCA indel Pathogenic GRCh37 Chromosome 7, 30999250: 31006943
20 GHRHR NG_021416.1: g.615_8308del7694insAGAGATCCA indel Pathogenic GRCh38 Chromosome 7, 30959635: 30967328
21 GHRHR NM_000823.3(GHRHR): c.281G> A (p.Arg94Gln) single nucleotide variant Likely pathogenic rs200848306 GRCh38 Chromosome 7, 30969879: 30969879
22 GHRHR NM_000823.3(GHRHR): c.281G> A (p.Arg94Gln) single nucleotide variant Likely pathogenic rs200848306 GRCh37 Chromosome 7, 31009494: 31009494
23 GHRHR NM_000823.3(GHRHR): c.418T> C (p.Ser140Pro) single nucleotide variant Likely pathogenic rs606231412 GRCh37 Chromosome 7, 31010785: 31010785
24 GHRHR NM_000823.3(GHRHR): c.418T> C (p.Ser140Pro) single nucleotide variant Likely pathogenic rs606231412 GRCh38 Chromosome 7, 30971170: 30971170
25 GHRHR NM_000823.3(GHRHR): c.495C> A (p.His165Gln) single nucleotide variant Likely pathogenic rs606231413 GRCh37 Chromosome 7, 31011608: 31011608
26 GHRHR NM_000823.3(GHRHR): c.495C> A (p.His165Gln) single nucleotide variant Likely pathogenic rs606231413 GRCh38 Chromosome 7, 30971993: 30971993
27 GH1 NM_000515.4(GH1): c.7A> G (p.Thr3Ala) single nucleotide variant Benign rs2001345 GRCh37 Chromosome 17, 61996130: 61996130
28 GH1 NM_000515.4(GH1): c.7A> G (p.Thr3Ala) single nucleotide variant Benign rs2001345 GRCh38 Chromosome 17, 63918770: 63918770
29 GH1 NM_000515.4(GH1): c.-4T> G single nucleotide variant Benign/Likely benign rs6173 GRCh38 Chromosome 17, 63918780: 63918780
30 GH1 NM_000515.4(GH1): c.-4T> G single nucleotide variant Benign/Likely benign rs6173 GRCh37 Chromosome 17, 61996140: 61996140

Expression for Isolated Growth Hormone Deficiency, Type Ib

Search GEO for disease gene expression data for Isolated Growth Hormone Deficiency, Type Ib.

Pathways for Isolated Growth Hormone Deficiency, Type Ib

Pathways related to Isolated Growth Hormone Deficiency, Type Ib according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.23 GH1 GHRH IGF1
2
Show member pathways
12.03 GH1 GHR IGF1 IGFBP3
3
Show member pathways
11.93 GH1 GHRH IGF1
4
Show member pathways
11.75 GH1 GHRH IGF1
5
Show member pathways
11.59 GH1 GHRH IGF1
6 11.52 IGF1 IGFBP3
7 11.12 GH1 GHRH IGF1
8
Show member pathways
10.93 GH1 GHR
9 10.61 GH1 GHR IGF1
10 10.56 GH1 GHRH IGF1
11 10.48 IGF1 IGFBP3

GO Terms for Isolated Growth Hormone Deficiency, Type Ib

Cellular components related to Isolated Growth Hormone Deficiency, Type Ib according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.72 GH1 GHR GHRH IGF1 IGFBP3
2 extracellular space GO:0005615 9.65 GH1 GHR GHRH IGF1 IGFBP3
3 insulin-like growth factor ternary complex GO:0042567 9.16 IGF1 IGFBP3
4 insulin-like growth factor binding protein complex GO:0016942 8.96 IGF1 IGFBP3
5 growth hormone receptor complex GO:0070195 8.62 GH1 GHR

Biological processes related to Isolated Growth Hormone Deficiency, Type Ib according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.77 GHRH GHRHR IGF1
2 regulation of signaling receptor activity GO:0010469 9.75 GH1 GHRH IGF1
3 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.61 GHRH GHRHR
4 cellular response to insulin stimulus GO:0032869 9.6 GHR GHRHR
5 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.58 GH1 IGF1
6 response to glucocorticoid GO:0051384 9.57 GHR GHRHR
7 regulation of multicellular organism growth GO:0040014 9.56 GHR IGF1
8 positive regulation of JAK-STAT cascade GO:0046427 9.55 GH1 GHR
9 response to food GO:0032094 9.54 GHR GHRH
10 hormone metabolic process GO:0042445 9.52 GHR GHRHR
11 insulin-like growth factor receptor signaling pathway GO:0048009 9.51 GHR IGF1
12 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.5 GH1 GHR IGF1
13 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.49 GH1 GHR
14 growth hormone receptor signaling pathway GO:0060396 9.48 GH1 GHR
15 positive regulation of hormone secretion GO:0046887 9.46 GHRH GHRHR
16 adenohypophysis development GO:0021984 9.43 GHRH GHRHR
17 positive regulation of growth hormone secretion GO:0060124 9.4 GHRH GHRHR
18 growth hormone secretion GO:0030252 9.37 GHRH GHRHR
19 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.33 GH1 GHR IGF1
20 positive regulation of circadian sleep/wake cycle, non-REM sleep GO:0046010 9.26 GHRH GHRHR
21 positive regulation of multicellular organism growth GO:0040018 9.26 GH1 GHR GHRH GHRHR
22 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.02 GH1 GHRH GHRHR IGF1 IGFBP3

Molecular functions related to Isolated Growth Hormone Deficiency, Type Ib according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptide hormone binding GO:0017046 9.16 GHR GHRHR
2 hormone activity GO:0005179 9.13 GH1 GHRH IGF1
3 growth factor binding GO:0019838 8.8 GHR GHRHR IGFBP3

Sources for Isolated Growth Hormone Deficiency, Type Ib

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....