MCID: ISL015
MIFTS: 42

Isolated Growth Hormone Deficiency, Type Ib

Categories: Genetic diseases, Rare diseases, Endocrine 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
Dwarfism of Sindh 57 12 53 75
Growth Hormone Deficiency, Isolated, Type Ib 57 13 40
Isolated Growth Hormone Deficiency Type 1b 53 29 6
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

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.

MalaCards based summary : Isolated Growth Hormone Deficiency, Type Ib, also known as isolated growth hormone deficiency type ib, is related to laron syndrome and isolated growth hormone deficiency. 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 Phospholipase-C Pathway and p70S6K Signaling. The drug Hormones has been mentioned in the context of this disorder. Affiliated tissues include bone and pituitary, and related phenotypes are growth hormone deficiency and delayed skeletal maturation

OMIM : 57 Patients with IGHD type IB are characterized by low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to GH therapy. See entry 262400 for a summary of the different types of IGHD. (612781)

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 55)
# Related Disease Score Top Affiliating Genes
1 laron syndrome 30.8 GH1 IGF1 IGFBP3
2 isolated growth hormone deficiency 30.3 GH1 GHRH GHRHR IGF1
3 dwarfism 29.3 GH1 GHRH GHRHR
4 growth hormone deficiency 27.3 GH1 GHRH GHRHR IGF1 IGFBP3
5 isolated growth hormone deficiency, type ia 11.4
6 pituitary stalk interruption syndrome 10.2 GH1 GHRHR
7 marasmus 10.2 GH1 IGFBP3
8 hypothalamic disease 10.1 GH1 GHRH
9 gigantism 10.1 GH1 GHRH
10 chromophobe adenoma 10.0 GH1 GHRH
11 adrenal gland hyperfunction 9.9 GH1 GHRH
12 slipped capital femoral epiphysis 9.9 IGF1 IGFBP3
13 secondary adrenal insufficiency 9.8 IGF1 IGFBP3
14 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 9.8 IGF1 IGFBP3
15 pseudohypoparathyroidism, type ia 9.8 GH1 IGF1
16 diffuse idiopathic skeletal hyperostosis 9.8 IGF1 IGFBP3
17 central precocious puberty 9.8 IGF1 IGFBP3
18 empty sella syndrome 9.8 GH1 IGF1
19 mammographic density 9.8 IGF1 IGFBP3
20 hypothyroidism, congenital, nongoitrous, 4 9.8 GH1 IGF1
21 acid-labile subunit deficiency 9.8 IGF1 IGFBP3
22 fetal macrosomia 9.8 IGF1 IGFBP3
23 pituitary tumors 9.7 GH1 IGF1
24 mccune-albright syndrome 9.7 GH1 IGF1
25 pituitary hormone deficiency, combined, 2 9.7 GH1 IGF1
26 fibrous dysplasia 9.7 GH1 IGF1
27 gonadal disease 9.7 GH1 IGF1
28 osteogenesis imperfecta, type i 9.7 IGF1 IGFBP3
29 carcinoid syndrome 9.7 GHRH IGF1
30 hyperprolactinemia 9.6 GH1 IGF1
31 endocrine pancreas disease 9.6 GHRH IGF1
32 craniopharyngioma 9.6 GH1 IGF1
33 endocrine organ benign neoplasm 9.6 GHRH IGF1
34 exudative vitreoretinopathy 1 9.6 IGF1 IGFBP3
35 pituitary adenoma, prolactin-secreting 9.6 GH1 IGF1
36 colorectal adenoma 9.6 IGF1 IGFBP3
37 male reproductive organ cancer 9.5 IGF1 IGFBP3
38 breast disease 9.4 IGF1 IGFBP3
39 silver-russell syndrome 9.3 IGF1 IGFBP3
40 pituitary adenoma 1, multiple types 9.3 GH1 IGF1 IGFBP3
41 turner syndrome 9.2 GH1 IGF1 IGFBP3
42 hyperinsulinism 9.2 GH1 IGF1 IGFBP3
43 prader-willi syndrome 9.2 GH1 IGF1 IGFBP3
44 hypothyroidism 9.2 GH1 IGF1 IGFBP3
45 pituitary gland disease 9.1 GH1 GHRH IGF1
46 noonan syndrome 1 9.0 IGF1 IGFBP3
47 osteoporosis 8.9 GH1 IGF1 IGFBP3
48 isolated growth hormone deficiency, type ii 8.6 GH1 GHRH GHRHR IGF1
49 diabetes mellitus, noninsulin-dependent 8.6 GH1 IGF1 IGFBP3
50 hyperpituitarism 8.5 GH1 GHRH 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 growth hormone deficiency 32 HP:0000824
2 delayed skeletal maturation 32 HP:0002750
3 short stature 32 HP:0004322

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 8.92 GHRH 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

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 32)
# 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 NC_000007.14: g.62535490A> G single nucleotide variant Pathogenic rs483352872 GRCh37 Chromosome 7, 61995868: 61995868
22 NC_000007.14: g.62535490A> G single nucleotide variant Pathogenic rs483352872 GRCh38 Chromosome 7, 62535490: 62535490
23 GHRHR NM_000823.3(GHRHR): c.281G> A (p.Arg94Gln) single nucleotide variant Likely pathogenic rs200848306 GRCh38 Chromosome 7, 30969879: 30969879
24 GHRHR NM_000823.3(GHRHR): c.281G> A (p.Arg94Gln) single nucleotide variant Likely pathogenic rs200848306 GRCh37 Chromosome 7, 31009494: 31009494
25 GHRHR NM_000823.3(GHRHR): c.418T> C (p.Ser140Pro) single nucleotide variant Likely pathogenic rs606231412 GRCh37 Chromosome 7, 31010785: 31010785
26 GHRHR NM_000823.3(GHRHR): c.418T> C (p.Ser140Pro) single nucleotide variant Likely pathogenic rs606231412 GRCh38 Chromosome 7, 30971170: 30971170
27 GHRHR NM_000823.3(GHRHR): c.495C> A (p.His165Gln) single nucleotide variant Likely pathogenic rs606231413 GRCh37 Chromosome 7, 31011608: 31011608
28 GHRHR NM_000823.3(GHRHR): c.495C> A (p.His165Gln) single nucleotide variant Likely pathogenic rs606231413 GRCh38 Chromosome 7, 30971993: 30971993
29 GH1 NM_000515.4(GH1): c.7A> G (p.Thr3Ala) single nucleotide variant Benign rs2001345 GRCh37 Chromosome 17, 61996130: 61996130
30 GH1 NM_000515.4(GH1): c.7A> G (p.Thr3Ala) single nucleotide variant Benign rs2001345 GRCh38 Chromosome 17, 63918770: 63918770
31 GH1 NM_000515.4(GH1): c.-4T> G single nucleotide variant Benign/Likely benign rs6173 GRCh38 Chromosome 17, 63918780: 63918780
32 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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 GH1 GHRH IGF1
2
Show member pathways
12.51 GH1 GHRH IGF1
3
Show member pathways
12.45 GH1 GHRH GHRHR
4
Show member pathways
12.27 GH1 IGF1 IGFBP3
5
Show member pathways
11.95 GH1 GHRH IGF1
6 11.67 GHRH GHRHR
7 11.6 GH1 IGF1
8
Show member pathways
11.53 IGF1 IGFBP3
9 11.39 IGF1 IGFBP3
10
Show member pathways
11.14 GH1 GHRH IGF1
11 11.07 GH1 IGF1
12 9.95 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 space GO:0005615 9.46 GH1 GHRH IGF1 IGFBP3
2 insulin-like growth factor ternary complex GO:0042567 8.96 IGF1 IGFBP3
3 insulin-like growth factor binding protein complex GO:0016942 8.62 IGF1 IGFBP3

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.71 GHRH GHRHR IGF1
2 regulation of signaling receptor activity GO:0010469 9.61 GH1 GHRH IGF1
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.55 GH1 IGF1
4 response to insulin GO:0032868 9.52 GHRHR IGF1
5 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.51 GHRH GHRHR
6 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.49 GH1 IGF1
7 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.48 GH1 IGF1
8 response to nutrient levels GO:0031667 9.46 GH1 IGF1
9 positive regulation of hormone secretion GO:0046887 9.4 GHRH GHRHR
10 positive regulation of growth hormone secretion GO:0060124 9.37 GHRH GHRHR
11 adenohypophysis development GO:0021984 9.32 GHRH GHRHR
12 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.26 GHRHR IGFBP3
13 growth hormone secretion GO:0030252 9.16 GHRH GHRHR
14 positive regulation of multicellular organism growth GO:0040018 9.13 GH1 GHRH GHRHR
15 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 hormone activity GO:0005179 8.96 GH1 IGF1
2 growth factor binding GO:0019838 8.62 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
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