MCID: GRW016
MIFTS: 41

Growth Hormone Deficiency, Isolated, Type Ib

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Growth Hormone Deficiency, Isolated, Type Ib

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

Name: Growth Hormone Deficiency, Isolated, Type Ib 54 13
Isolated Growth Hormone Deficiency Type Ib 12 56 71 14
Dwarfism of Sindh 12 50 71
Congenital Isolated Growth Hormone Deficiency Type Ib 12 56
Isolated Growth Hormone Deficiency Type 1b 50 29
Congenital Isolated Gh Deficiency Type Ib 12 56
Congenital Ighd Type Ib 12 56
Pituitary Dwarfism I 71 69
Ighd Ib 12 71
Ighd1b 50 71
Isolated Growth Hormone Deficiency, Type Ib 69
Growth Hormone Deficiency, Isolated, 1b 71
Ighd 1b 50

Characteristics:

Orphanet epidemiological data:

56
isolated growth hormone deficiency type ib
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

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


Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

OMIM 54 612781
Disease Ontology 12 DOID:0060874
ICD10 33 E23.0
Orphanet 56 ORPHA231671
UMLS via Orphanet 70 C2748571
ICD10 via Orphanet 34 E23.0
MedGen 40 C2748571
MeSH 42 D004393

Summaries for Growth Hormone Deficiency, Isolated, 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 : Growth Hormone Deficiency, Isolated, Type Ib, also known as isolated growth hormone deficiency type ib, is related to isolated growth hormone deficiency, type ib, gh1-related and isolated growth hormone deficiency, type ib, ghrhr-related, and has symptoms including growth hormone deficiency, delayed skeletal maturation and short stature. An important gene associated with Growth Hormone Deficiency, Isolated, Type Ib is GHRHR (Growth Hormone Releasing Hormone Receptor), and among its related pathways/superpathways are G-Beta Gamma Signaling and NF-KappaB Family Pathway. Affiliated tissues include bone and pituitary, and related phenotypes are adipose tissue and endocrine/exocrine gland

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on isolated growth hormone deficiency.

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
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)

Related Diseases for Growth Hormone Deficiency, Isolated, Type Ib

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

(show top 50) (show all 67)
id Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency, type ib, gh1-related 12.2
2 isolated growth hormone deficiency, type ib, ghrhr-related 12.2
3 isolated growth hormone deficiency 11.5
4 growth hormone deficiency, isolated, type ia 11.2
5 laron dwarfism 11.1
6 pityriasis rotunda 10.4 GH1 GHRHR
7 simple cryoglobulinemia 10.3 GH1 GHR
8 intermittent squint 10.3 GH1 GHRH
9 glassy cell carcinoma of the cervix 10.3 GH1 GHRH
10 strabismus 10.3 GH1 GHR
11 diencephalic neoplasm 10.2 GH1 GHRH
12 male genital organ stricture 10.2 GH1 IGFBP3
13 adrenal cortex disease 10.2 GH1 GHRH
14 acute myocarditis 10.1 GHR GHRH
15 pediatric osteosarcoma 10.1 GHR IGFBP3
16 hypothyroidism, congenital, nongoitrous 4 10.0 GH1 IGF1
17 osseous heteroplasia, progressive 10.0 GH1 IGF1
18 acyl-coa dehydrogenase, short-chain, deficiency of 9.9 GHR IGF1
19 growth hormone deficiency 9.9
20 carcinoma of unknown primary site, childhood 9.9 GHRH IGF1
21 psychogenic movement 9.9 GH1 IGF1
22 worth's syndrome 9.9 GH1 IGF1
23 epiphyseal chondrodysplasia, miura type 9.9 GHR IGF1
24 dwarfism 9.9
25 small cell lung cancer, childhood 9.8 IGF1 IGFBP3
26 cardiovascular organ benign neoplasm 9.8 GHRH IGF1
27 selenium poisoning 9.8 IGF1 IGFBP3
28 neurogenic arthropathy 9.8 GHRH IGF1
29 pulmonary large cell neuroendocrine carcinoma 9.8 IGF1 IGFBP3
30 capillary lymphangioma 9.8 GH1 IGF1
31 hyperlipoproteinemia, type ib 9.8 IGF1 IGFBP3
32 alpha-methylacyl-coa racemase deficiency 9.8 GH1 IGF1
33 glomerulosclerosis, focal segmental, 1 9.8 IGF1 IGFBP3
34 phacolytic glaucoma 9.8 IGF1 IGFBP3
35 fetal parvovirus syndrome 9.8 IGF1 IGFBP3
36 pituitary adenoma, acth-secreting 9.8 GH1 IGF1
37 pericardial tuberculosis 9.7 IGF1 IGFBP3
38 caffey disease 9.7 IGF1 IGFBP3
39 congenital hypomyelination neuropathy 9.6 IGF1 IGFBP3
40 albinism, oculocutaneous, type ia 9.6 IGF1 IGFBP3
41 medullomyoblastoma 9.5 IGF1 IGFBP3
42 molybdenum cofactor deficiency b 9.5 GH1 GHR IGF1
43 uterine ligament clear cell adenocarcinoma 9.5 GH1 GHRH IGF1
44 usher syndrome, type 1f 9.5 GH1 GHRH IGF1
45 plague 9.5 IGF1 IGFBP3
46 bardet-biedl syndrome 9.4 IGF1 IGFBP3
47 exostosis 9.4 IGF1 IGFBP3
48 lipase deficiency, combined 9.4 GH1 IGF1 IGFBP3
49 dwarfism familial with muscle spasms 9.4 GH1 GHR GHRH GHRHR
50 pituitary adenoma, prolactin-secreting 9.4 GH1 IGF1 IGFBP3

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



Diseases related to Growth Hormone Deficiency, Isolated, Type Ib

Symptoms & Phenotypes for Growth Hormone Deficiency, Isolated, Type Ib

Clinical features from OMIM:

612781

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

32
id 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 Growth Hormone Deficiency, Isolated, Type Ib:

44
id 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 GHRHR IGF1 IGFBP3 GHR GHRH
3 limbs/digits/tail MP:0005371 8.8 GHR GHRHR IGF1

Drugs & Therapeutics for Growth Hormone Deficiency, Isolated, Type Ib

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

Genetic Tests for Growth Hormone Deficiency, Isolated, Type Ib

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

id Genetic test Affiliating Genes
1 Isolated Growth Hormone Deficiency Type 1b 29

Anatomical Context for Growth Hormone Deficiency, Isolated, Type Ib

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

39
Bone, Pituitary

Publications for Growth Hormone Deficiency, Isolated, Type Ib

Variations for Growth Hormone Deficiency, Isolated, Type Ib

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

71 (show all 17)
id 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 Growth Hormone Deficiency, Isolated, Type Ib:

6 (show all 15)
id 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> T single nucleotide variant Pathogenic rs797044449 GRCh38 Chromosome 17, 63917759: 63917759
3 GH1 NM_000515.4(GH1): c.456+5G> C single nucleotide variant Pathogenic rs863223308 GRCh38 Chromosome 17, 63917755: 63917755
4 GHRHR NM_000823.3(GHRHR): c.214G> T (p.Glu72Ter) single nucleotide variant Pathogenic rs121918117 GRCh37 Chromosome 7, 31008731: 31008731
5 GHRHR GHRHR, IVS1, G-A, +1 single nucleotide variant Pathogenic
6 GHRHR NM_000823.3(GHRHR): c.431T> A (p.Leu144His) single nucleotide variant Pathogenic rs121918118 GRCh37 Chromosome 7, 31010798: 31010798
7 GHRHR NM_000823.3(GHRHR): c.725T> G (p.Phe242Cys) single nucleotide variant Pathogenic rs121918119 GRCh37 Chromosome 7, 31013727: 31013727
8 GHRHR NM_000823.3(GHRHR): c.665C> A (p.Ala222Glu) single nucleotide variant Pathogenic rs121918120 GRCh37 Chromosome 7, 31013667: 31013667
9 GHRHR NM_000823.3(GHRHR): c.985A> G (p.Lys329Glu) single nucleotide variant Pathogenic rs121918121 GRCh37 Chromosome 7, 31016054: 31016054
10 GHRHR GHRHR, -124A-C single nucleotide variant Pathogenic
11 GHRHR NG_021416.1: g.615_8308del7694insAGAGATCCA indel Pathogenic GRCh37 Chromosome 7, 30999250: 31006943
12 NC_000007.14: g.62535490A> G single nucleotide variant Pathogenic rs483352872 GRCh37 Chromosome 7, 61995868: 61995868
13 GHRHR NM_000823.3(GHRHR): c.281G> A (p.Arg94Gln) single nucleotide variant Likely pathogenic rs200848306 GRCh38 Chromosome 7, 30969879: 30969879
14 GHRHR NM_000823.3(GHRHR): c.418T> C (p.Ser140Pro) single nucleotide variant Likely pathogenic rs606231412 GRCh37 Chromosome 7, 31010785: 31010785
15 GHRHR NM_000823.3(GHRHR): c.495C> A (p.His165Gln) single nucleotide variant Likely pathogenic rs606231413 GRCh37 Chromosome 7, 31011608: 31011608

Expression for Growth Hormone Deficiency, Isolated, Type Ib

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

Pathways for Growth Hormone Deficiency, Isolated, Type Ib

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.37 GH1 GHRH GHRHR
2
Show member pathways
12.16 GH1 GHRH IGF1
3
Show member pathways
12.03 GH1 GHR IGF1 IGFBP3
4 11.39 IGF1 IGFBP3
5 11.19 GH1 GHRH IGF1
6
Show member pathways
10.87 GH1 GHR
7 10.61 GH1 GHR IGF1
8 10.48 IGF1 IGFBP3

GO Terms for Growth Hormone Deficiency, Isolated, Type Ib

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

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

(show all 24)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.79 GHRH GHRHR IGF1
2 positive regulation of MAPK cascade GO:0043410 9.61 IGF1 IGFBP3
3 cellular response to insulin stimulus GO:0032869 9.61 GHR GHRHR
4 response to glucocorticoid GO:0051384 9.6 GHR GHRHR
5 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.59 GH1 IGF1
6 positive regulation of cAMP biosynthetic process GO:0030819 9.58 GHRH GHRHR
7 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.58 GHRH GHRHR
8 JAK-STAT cascade GO:0007259 9.57 GH1 GHR
9 cAMP-mediated signaling GO:0019933 9.56 GHRH GHRHR
10 regulation of multicellular organism growth GO:0040014 9.55 GHR IGF1
11 response to food GO:0032094 9.54 GHR GHRH
12 positive regulation of JAK-STAT cascade GO:0046427 9.52 GH1 GHR
13 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.51 GH1 GHR
14 insulin-like growth factor receptor signaling pathway GO:0048009 9.49 GHR IGF1
15 positive regulation of hormone secretion GO:0046887 9.48 GHRH GHRHR
16 positive regulation of growth hormone secretion GO:0060124 9.46 GHRH GHRHR
17 adenohypophysis development GO:0021984 9.43 GHRH GHRHR
18 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.43 GH1 GHR IGF1
19 growth hormone receptor signaling pathway GO:0060396 9.4 GH1 GHR
20 growth hormone secretion GO:0030252 9.37 GHRH GHRHR
21 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.33 GH1 GHR IGF1
22 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.32 GHRHR IGFBP3
23 positive regulation of multicellular organism growth GO:0040018 9.26 GH1 GHR GHRH GHRHR
24 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.02 GH1 GHRH GHRHR IGF1 IGFBP3

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

id Name GO ID Score Top Affiliating Genes
1 growth factor binding GO:0019838 8.96 GHRHR IGFBP3
2 peptide hormone binding GO:0017046 8.62 GHR GHRHR

Sources for Growth Hormone Deficiency, Isolated, Type Ib

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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