IGHD2
MCID: ISL114
MIFTS: 49

Isolated Growth Hormone Deficiency, Type Ii (IGHD2)

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Isolated Growth Hormone Deficiency, Type Ii

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

Name: Isolated Growth Hormone Deficiency, Type Ii 57 73
Isolated Growth Hormone Deficiency Type Ii 12 53 59 75 15
Ighd Ii 57 12 53 75 55
Growth Hormone Deficiency, Isolated, Type Ii 57 13 40
Ighd2 57 53 75
Pituitary Dwarfism Due to Isolated Growth Hormone Deficiency Autosomal Dominant 53 75
Congenital Isolated Growth Hormone Deficiency Type Ii 12 59
Congenital Isolated Gh Deficiency Type Ii 12 59
Congenital Ighd Type Ii 12 59
Pituitary Dwarfism Due to Isolated Growth Hormone Deficiency, Autosomal Dominant 57
Autosomal Dominant Pituitary Dwarfism Due to Isolated Growth Hormone Deficiency 12
Growth Hormone Deficiency, Isolated, Autosomal Dominant 57
Growth Hormone Deficiency, Isolated Autosomal Dominant 53
Autosomal Dominant Isolated Growth Hormone Deficiency 12
Growth Hormone Deficiency Isolated Autosomal Dominant 75
Isolated Growth Hormone Deficiency Type 2 53
Growth Hormone Deficiency, Isolated, 2 75

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal dominant form


HPO:

32
isolated growth hormone deficiency, type ii:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

OMIM 57 173100
Disease Ontology 12 DOID:0060872
ICD10 33 E23.0
Orphanet 59 ORPHA231679
ICD10 via Orphanet 34 E23.0
UMLS via Orphanet 74 C0271567
MedGen 42 C0271567
MeSH 44 D004393
UMLS 73 C0271567

Summaries for Isolated Growth Hormone Deficiency, Type Ii

OMIM : 57 Type II IGHD is an autosomal dominant disorder characterized by low but detectable levels of growth hormone (GH), variable height deficit and age at presentation, and good response to rhGH. Patients may show anterior pituitary hypoplasia on MRI (summary by Phillips and Cogan, 1994; Alatzoglou and Dattani, 2012). (173100)

MalaCards based summary : Isolated Growth Hormone Deficiency, Type Ii, also known as isolated growth hormone deficiency type ii, is related to isolated growth hormone deficiency and growth hormone deficiency. An important gene associated with Isolated Growth Hormone Deficiency, Type Ii is GH1 (Growth Hormone 1), and among its related pathways/superpathways are Pathways in cancer and Influenza A. Affiliated tissues include pituitary, bone and brain, and related phenotypes are severe short stature and growth hormone deficiency

Disease Ontology : 12 An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has material basis in dominant negative mutations in the GH1 gene on chromosome 17q23.3.

UniProtKB/Swiss-Prot : 75 Growth hormone deficiency, isolated, 2: An autosomal dominant deficiency of growth hormone leading to short stature. Clinical severity is variable. Patients have a positive response and immunologic tolerance to growth hormone therapy.

Related Diseases for Isolated Growth Hormone Deficiency, Type Ii

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

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency 32.3 POU1F1 IGF1 HESX1 GHRHR GHRH GHR
2 growth hormone deficiency 30.7 IGF1 HESX1 GHRHR GHRH GH1
3 hypothyroidism due to deficient transcription factors involved in pituitary development or function 10.2 POU1F1 HESX1
4 pseudohypoparathyroidism, type ia 10.2 IGF1 GH1
5 hypothalamic disease 10.2 GHRH GH1
6 combined pituitary hormone deficiencies, genetic forms 10.2 POU1F1 HESX1
7 hypothyroidism, congenital, nongoitrous, 4 10.2 POU1F1 IGF1 GH1
8 acidophil adenoma 10.2 SST IGF1
9 craniopharyngioma 10.2 POU1F1 IGF1 GH1
10 pituitary hypoplasia 10.2 POU1F1 HESX1 GHRHR
11 pituitary infarct 10.2 SST IGF1
12 turner syndrome 10.2 IGF1 GHR GH1
13 pituitary adenoma 1, multiple types 10.2 SST IGF1 GH1
14 pituitary hormone deficiency, combined, 1 10.1 POU1F1 HESX1
15 tsh producing pituitary tumor 10.1 SST GHRH GH1
16 mccune-albright syndrome 10.1 SST IGF1 GH1
17 non-functioning pituitary adenoma 10.1 SST GHR GH1
18 functioning pituitary adenoma 10.1 SST GHR GH1
19 fibrous dysplasia 10.1 SST IGF1 GH1
20 carcinoid syndrome 10.1 SST IGF1 GHRH
21 hyperprolactinemia 10.1 SST IGF1 GH1
22 hormone producing pituitary cancer 10.1 SST IGF1
23 pituitary adenoma, prolactin-secreting 10.1 SST IGF1 GH1
24 pituitary stalk interruption syndrome 10.1 POU1F1 HESX1 GHRHR GH1
25 dwarfism 10.1 GHRHR GHRH GHR GH1
26 pituitary-dependent cushing's disease 10.1 SST GHRH GHR
27 cell type benign neoplasm 10.1 SST IGF1 GHRH
28 hypothyroidism 10.1 POU1F1 IGF1 HESX1 GH1
29 anorexia nervosa 10.1 IGF1 GHRH GHR GH1
30 laron syndrome 10.1 STAT5B IGF1 GHR GH1
31 gigantism 10.1 GHRH GH1
32 pituitary tumors 10.1 SST POU1F1 IGF1 GH1
33 isolated growth hormone deficiency type iii 10.1 HESX1 ESX1
34 hyperinsulinism 10.1 SST IGF1 GH1
35 glucagonoma 10.1 SST GHRH
36 isolated growth hormone deficiency, type ib 10.0 IGF1 GHRHR GHRH GHR GH1
37 hypopituitarism 10.0 POU1F1 IGF1 HESX1 GHRH GH1
38 empty sella syndrome 10.0 IGF1 GH1
39 pituitary hormone deficiency, combined, 2 10.0 POU1F1 IGF1 HESX1 GHR GH1
40 hyperpituitarism 10.0 SST IGF1 GHRH GHR GH1
41 acromegaly 10.0 SST IGF1 GHRH GHR GH1
42 insulin-like growth factor i 10.0 SST IGF1 GHRH GHR GH1
43 b cell linker protein deficiency 10.0 STAT5B STAT5A
44 cellular congenital mesoblastic nephroma 9.9 STAT5B STAT5A
45 body mass index quantitative trait locus 11 9.9 JAK2 IGF1 GHRH GHR GH1
46 erythrocytosis, familial, 1 9.9 STAT5B STAT5A JAK2
47 jak3-deficient severe combined immunodeficiency 9.9 STAT5B STAT5A
48 pituitary gland disease 9.9 SST POU1F1 IGF1 HESX1 GHRH GH1
49 chronic leukemia 9.8 STAT5B STAT5A SRSF2 JAK2
50 myelofibrosis 9.8 STAT5B STAT5A SRSF2 JAK2

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



Diseases related to Isolated Growth Hormone Deficiency, Type Ii

Symptoms & Phenotypes for Isolated Growth Hormone Deficiency, Type Ii

Symptoms via clinical synopsis from OMIM:

57
Growth:
dwarfism

Lab:
insulin responses to glucose and to arginine usually greater than normal
no insulinopenia

Endocrine:
isolated growth hormone deficiency


Clinical features from OMIM:

173100

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

32
# Description HPO Frequency HPO Source Accession
1 severe short stature 32 HP:0003510
2 growth hormone deficiency 32 HP:0000824
3 pituitary dwarfism 32 HP:0000839

GenomeRNAi Phenotypes related to Isolated Growth Hormone Deficiency, Type Ii according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.03 SRSF1
2 Decreased viability GR00221-A-2 10.03 JAK2
3 Decreased viability GR00240-S-1 10.03 SST
4 Decreased viability GR00381-A-1 10.03 SRSF1
5 Decreased viability GR00402-S-2 10.03 ANXA5 ELF3 ELF5 ESX1 GH1 GHR
6 no effect GR00402-S-1 9.62 ANXA5 ELF3 ELF5 ESX1 GH1 GHR

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.13 ELF3 GHR GHRH GHRHR HESX1 HSP90B1
2 endocrine/exocrine gland MP:0005379 10.07 GHR GHRH GHRHR HESX1 IGF1 JAK2
3 hematopoietic system MP:0005397 9.96 ANXA5 GHR GHRHR HSP90B1 IGF1 JAK2
4 immune system MP:0005387 9.93 ANXA5 GHR GHRH GHRHR HSP90B1 IGF1
5 mortality/aging MP:0010768 9.8 ELF3 GHR GOSR2 HESX1 HSP90B1 IGF1
6 normal MP:0002873 9.23 ANXA5 HESX1 IGF1 JAK2 RAB3A SST

Drugs & Therapeutics for Isolated Growth Hormone Deficiency, Type Ii

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

Genetic Tests for Isolated Growth Hormone Deficiency, Type Ii

Anatomical Context for Isolated Growth Hormone Deficiency, Type Ii

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

41
Pituitary, Bone, Brain, Pancreas, B Cells, Myeloid, Bone Marrow

Publications for Isolated Growth Hormone Deficiency, Type Ii

Articles related to Isolated Growth Hormone Deficiency, Type Ii:

# Title Authors Year
1
Rescue of Isolated Growth Hormone Deficiency Type II (IGHD II) via Pharmacologic Modulation of GH-1 Splicing. ( 27253996 )
2016
2
Splice Site Mutations in GH1 Detected in Previously (Genetically) Undiagnosed Families with Congenital Isolated Growth Hormone Deficiency Type II. ( 24280736 )
2013
3
A novel GH1 mutation in a family with isolated growth hormone deficiency type II. ( 22188748 )
2012
4
A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II. ( 19837935 )
2009
5
Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function. ( 18554279 )
2008
6
Rescue of pituitary function in a mouse model of isolated growth hormone deficiency type II by RNA interference. ( 18006625 )
2008
7
Mutant and misfolded human growth hormone is rapidly degraded through the proteasomal degradation pathway in a cellular model for isolated growth hormone deficiency type II. ( 17927666 )
2007
8
A novel IVS2 -2A>T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian population. ( 12574219 )
2003
9
An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II. ( 12000366 )
2002
10
Isolated growth hormone deficiency, type II (sexual ateleiosis, type II). ( 5173170 )
1971

Variations for Isolated Growth Hormone Deficiency, Type Ii

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

75
# Symbol AA change Variation ID SNP ID
1 GH1 p.Arg209His VAR_015815 rs137853223

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

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 GH1 NM_000515.4(GH1): c.291+6T> C single nucleotide variant Pathogenic rs797044450 GRCh37 Chromosome 17, 61995371: 61995371
2 GH1 NM_000515.4(GH1): c.291+6T> C single nucleotide variant Pathogenic rs797044450 GRCh38 Chromosome 17, 63918011: 63918011
3 GH1 NM_000515.4(GH1): c.291+1G> A single nucleotide variant Pathogenic rs71640277 GRCh38 Chromosome 17, 63918016: 63918016
4 GH1 NM_000515.4(GH1): c.291+1G> A single nucleotide variant Pathogenic rs71640277 GRCh37 Chromosome 17, 61995376: 61995376
5 GH1 NM_000515.4(GH1): c.291+1G> C single nucleotide variant Pathogenic rs71640277 GRCh37 Chromosome 17, 61995376: 61995376
6 GH1 NM_000515.4(GH1): c.291+1G> C single nucleotide variant Pathogenic rs71640277 GRCh38 Chromosome 17, 63918016: 63918016
7 GH1 NM_000515.4(GH1): c.291+28G> A single nucleotide variant Pathogenic rs863223306 GRCh37 Chromosome 17, 61995349: 61995349
8 GH1 NM_000515.4(GH1): c.291+28G> A single nucleotide variant Pathogenic rs863223306 GRCh38 Chromosome 17, 63917989: 63917989
9 GH1 GH1, IVS3, 18-BP DEL, +28-45 deletion Pathogenic
10 GH1 NM_000515.4(GH1): c.291+5G> A single nucleotide variant Pathogenic rs863223307 GRCh38 Chromosome 17, 63918012: 63918012
11 GH1 NM_000515.4(GH1): c.291+5G> A single nucleotide variant Pathogenic rs863223307 GRCh37 Chromosome 17, 61995372: 61995372
12 GH1 GH1, EX3, A-G, +5 single nucleotide variant Pathogenic
13 GH1 GH1, EX3DEL deletion Pathogenic
14 GH1 NM_000515.4(GH1): c.172-2A> T single nucleotide variant Pathogenic rs863223309 GRCh37 Chromosome 17, 61995498: 61995498
15 GH1 NM_000515.4(GH1): c.172-2A> T single nucleotide variant Pathogenic rs863223309 GRCh38 Chromosome 17, 63918138: 63918138
16 GH1 NM_000515.4(GH1): c.291+2T> C single nucleotide variant Pathogenic rs863223310 GRCh37 Chromosome 17, 61995375: 61995375
17 GH1 NM_000515.4(GH1): c.291+2T> C single nucleotide variant Pathogenic rs863223310 GRCh38 Chromosome 17, 63918015: 63918015
18 GH1 GH1, IVS3, 22-BP DEL deletion Pathogenic
19 GH1 NM_000515.4(GH1): c.626G> A (p.Arg209His) single nucleotide variant Pathogenic rs137853223 GRCh37 Chromosome 17, 61994697: 61994697
20 GH1 NM_000515.4(GH1): c.626G> A (p.Arg209His) single nucleotide variant Pathogenic rs137853223 GRCh38 Chromosome 17, 63917337: 63917337
21 GH1 GH1, EX3, A-C, +2 single nucleotide variant Pathogenic
22 GH1 GH1, EX3, G-A, +1 single nucleotide variant Pathogenic
23 GH1 NM_000515.4(GH1): c.7A> G (p.Thr3Ala) single nucleotide variant Benign rs2001345 GRCh37 Chromosome 17, 61996130: 61996130
24 GH1 NM_000515.4(GH1): c.7A> G (p.Thr3Ala) single nucleotide variant Benign rs2001345 GRCh38 Chromosome 17, 63918770: 63918770
25 GH1 NM_000515.4(GH1): c.-4T> G single nucleotide variant Benign/Likely benign rs6173 GRCh38 Chromosome 17, 63918780: 63918780
26 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 Ii

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

Pathways for Isolated Growth Hormone Deficiency, Type Ii

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

(show all 26)
# Super pathways Score Top Affiliating Genes
1 12.72 HSP90B1 IGF1 JAK2 STAT5A STAT5B
2
Show member pathways
12.67 JAK2 SRSF1 SRSF2 STAT5A STAT5B
3
Show member pathways
12.22 ELF5 GH1 JAK2 STAT5A STAT5B
4
Show member pathways
12.17 GH1 GHR JAK2 STAT5A STAT5B
5
Show member pathways
12.04 HSP90B1 IGF1 JAK2 STAT5A STAT5B
6 11.97 JAK2 RAB3A STAT5A STAT5B
7 11.9 ESX1 HESX1 IGF1 JAK2
8 11.85 GH1 IGF1 STAT5A STAT5B
9
Show member pathways
11.83 JAK2 STAT5A STAT5B
10 11.78 JAK2 STAT5A STAT5B
11 11.77 JAK2 STAT5A STAT5B
12
Show member pathways
11.77 JAK2 STAT5A STAT5B
13 11.68 POU1F1 STAT5A STAT5B
14 11.63 JAK2 STAT5A STAT5B
15 11.56 JAK2 STAT5A STAT5B
16 11.53 JAK2 STAT5A STAT5B
17 11.42 JAK2 STAT5A STAT5B
18 11.38 JAK2 STAT5A STAT5B
19 11.31 HSP90B1 STAT5A STAT5B
20 11.27 JAK2 STAT5A STAT5B
21
Show member pathways
11.24 JAK2 STAT5A STAT5B
22 11.17 JAK2 STAT5A STAT5B
23 11.07 GH1 GHR IGF1 STAT5B
24
Show member pathways
10.96 JAK2 STAT5A STAT5B
25
Show member pathways
10.63 GH1 GHR JAK2 STAT5A STAT5B
26 10.61 JAK2 STAT5A STAT5B

GO Terms for Isolated Growth Hormone Deficiency, Type Ii

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

# Name GO ID Score Top Affiliating Genes
1 endosome lumen GO:0031904 8.96 GH1 JAK2
2 growth hormone receptor complex GO:0070195 8.62 GH1 GHR

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

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.88 GH1 GHR IGF1 JAK2
2 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.87 GH1 GHR IGF1 JAK2
3 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.82 GH1 IGF1 JAK2
4 lactation GO:0007595 9.79 GHRHR STAT5A STAT5B
5 2-oxoglutarate metabolic process GO:0006103 9.75 GHR STAT5A STAT5B
6 growth hormone receptor signaling pathway GO:0060396 9.73 GH1 GHR JAK2
7 regulation of multicellular organism growth GO:0040014 9.73 GHR IGF1 STAT5A STAT5B
8 creatine metabolic process GO:0006600 9.72 GHR STAT5A STAT5B
9 oxaloacetate metabolic process GO:0006107 9.71 GHR STAT5A STAT5B
10 JAK-STAT cascade GO:0007259 9.71 GHR JAK2 STAT5A STAT5B
11 succinate metabolic process GO:0006105 9.7 GHR STAT5A STAT5B
12 adenohypophysis development GO:0021984 9.69 GHRH GHRHR POU1F1
13 determination of adult lifespan GO:0008340 9.67 GHRHR POU1F1
14 hormone metabolic process GO:0042445 9.67 GHR GHRHR
15 insulin-like growth factor receptor signaling pathway GO:0048009 9.67 GHR IGF1
16 citrate metabolic process GO:0006101 9.67 GHR STAT5A STAT5B
17 interleukin-15-mediated signaling pathway GO:0035723 9.66 STAT5A STAT5B
18 positive regulation of protein import into nucleus, translocation GO:0033160 9.66 IGF1 JAK2
19 interleukin-2-mediated signaling pathway GO:0038110 9.65 STAT5A STAT5B
20 positive regulation of hormone secretion GO:0046887 9.65 GHRH GHRHR
21 taurine metabolic process GO:0019530 9.65 GHR STAT5A STAT5B
22 interleukin-9-mediated signaling pathway GO:0038113 9.64 STAT5A STAT5B
23 positive regulation of growth hormone secretion GO:0060124 9.64 GHRH GHRHR
24 growth hormone secretion GO:0030252 9.63 GHRH GHRHR
25 activation of Janus kinase activity GO:0042976 9.63 GHR JAK2
26 valine metabolic process GO:0006573 9.63 GHR STAT5A STAT5B
27 positive regulation of circadian sleep/wake cycle, non-REM sleep GO:0046010 9.62 GHRH GHRHR
28 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.61 GHRHR POU1F1
29 somatotropin secreting cell development GO:0060133 9.59 GHRHR POU1F1
30 creatinine metabolic process GO:0046449 9.54 GHR STAT5A STAT5B
31 isoleucine metabolic process GO:0006549 9.5 GHR STAT5A STAT5B
32 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.46 GH1 GHRH GHRHR IGF1
33 allantoin metabolic process GO:0000255 9.43 GHR STAT5A STAT5B
34 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.35 GH1 GHR JAK2 STAT5A STAT5B
35 positive regulation of multicellular organism growth GO:0040018 9.1 GH1 GHR GHRH GHRHR POU1F1 STAT5B
36 positive regulation of cell proliferation GO:0008284 10.08 GHRH GHRHR IGF1 JAK2 POU1F1 STAT5B
37 cytokine-mediated signaling pathway GO:0019221 10 GHR HSP90B1 JAK2 STAT5A STAT5B

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

# Name GO ID Score Top Affiliating Genes
1 peptide hormone receptor binding GO:0051428 9.26 GHRH JAK2
2 growth hormone receptor binding GO:0005131 9.16 GH1 JAK2
3 peptide hormone binding GO:0017046 9.13 ANXA5 GHR GHRHR
4 hormone activity GO:0005179 8.92 GH1 GHRH IGF1 SST

Sources for Isolated Growth Hormone Deficiency, Type Ii

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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