Isolated Growth Hormone Deficiency, Type Ii disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ISL114 MIFTS: 45	Isolated Growth Hormone Deficiency, Type Ii Categories: Genetic diseases, Rare diseases, Endocrine diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Download Expand all tables

Sources

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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Endocrine, nutritional and metabolic diseases

Disorders of other endocrine glands

Hypofunction and other disorders of pituitary gland

Hypopituitarism

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

SNOMED-CT via HPO ⁶⁹ 263681008 2109003 367460001 more

UMLS ⁷³ C0271567

Sources

Summaries for Isolated Growth Hormone Deficiency, Type Ii

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.

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 TGF-Beta Pathway and PI3K-Akt signaling pathway. Affiliated tissues include pituitary, and related phenotypes are growth hormone deficiency and pituitary dwarfism

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.

Description from OMIM: 173100

Sources

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 all 38)

#	Related Disease	Score	Top Affiliating Genes
1	isolated growth hormone deficiency	31.4	GH1 GHR GHRH GHRHR HESX1 IGF1
2	growth hormone deficiency	30.5	GH1 GHRH GHRHR HESX1 IGF1
3	hypothyroidism due to deficient transcription factors involved in pituitary development or function	10.7	HESX1 POU1F1
4	pseudohypoparathyroidism, type ia	10.7	GH1 IGF1
5	non-functioning pituitary adenoma	10.7	GH1 GHR
6	combined pituitary hormone deficiencies, genetic forms	10.7	HESX1 POU1F1
7	hypothalamic disease	10.7	GH1 GHRH
8	pituitary adenoma 1, multiple types	10.6	GH1 IGF1
9	hypothyroidism, congenital, nongoitrous, 4	10.6	GH1 IGF1 POU1F1
10	pituitary tumors	10.6	GH1 IGF1 POU1F1
11	craniopharyngioma	10.6	GH1 IGF1 POU1F1
12	pituitary hypoplasia	10.5	GHRHR HESX1 POU1F1
13	gigantism	10.5	GH1 GHRH
14	turner syndrome	10.5	GH1 GHR IGF1
15	pituitary hormone deficiency, combined, 1	10.5	HESX1 POU1F1
16	isolated growth hormone deficiency, type ib	10.4	GH1 GHRH GHRHR IGF1
17	empty sella syndrome	10.3	GH1 IGF1
18	pituitary stalk interruption syndrome	10.3	GH1 GHRHR HESX1 POU1F1
19	hyperpituitarism	10.3	GH1 GHR GHRH IGF1
20	dwarfism	10.3	GH1 GHR GHRH GHRHR
21	acromegaly	10.3	GH1 GHR GHRH IGF1
22	insulin-like growth factor i	10.3	GH1 GHR GHRH IGF1
23	anorexia nervosa	10.2	GH1 GHR GHRH IGF1
24	laron syndrome	10.2	GH1 GHR IGF1 STAT5B
25	hypothyroidism	10.1	GH1 HESX1 IGF1 POU1F1
26	isolated growth hormone deficiency, type iii	10.1	ESX1 HESX1
27	pituitary gland disease	10.0	GH1 GHRH HESX1 IGF1 POU1F1
28	hypopituitarism	10.0	GH1 GHRH HESX1 IGF1 POU1F1
29	pituitary hormone deficiency, combined, 2	10.0	GH1 GHR HESX1 IGF1 POU1F1
30	b cell linker protein deficiency	9.9	STAT5A STAT5B
31	cellular congenital mesoblastic nephroma	9.8	STAT5A STAT5B
32	body mass index quantitative trait locus 11	9.7	GH1 GHR GHRH IGF1 JAK2
33	erythrocytosis, familial, 1	9.6	JAK2 STAT5A STAT5B
34	jak3-deficient severe combined immunodeficiency	9.6	STAT5A STAT5B
35	myelofibrosis	9.3	JAK2 SRSF2 STAT5A STAT5B
36	leukemia, chronic myeloid	9.1	ANXA5 JAK2 STAT5A STAT5B
37	leukemia, acute myeloid	8.9	ANXA5 JAK2 SRSF2 STAT5A STAT5B
38	bone marrow cancer	8.8	JAK2 STAT5A STAT5B

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

Sources

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

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	10.1	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	IGF1 JAK2 POU1F1 SRSF2 STAT5A STAT5B
4	immune system	MP:0005387	9.9	ANXA5 GHR GHRH GHRHR HSP90B1 IGF1
5	mortality/aging	MP:0010768	9.77	STAT5B ELF3 GHR GOSR2 HESX1 HSP90B1
6	reproductive system	MP:0005389	9.23	GHR GHRH GHRHR IGF1 JAK2 POU1F1

Sources

Drugs & Therapeutics for Isolated Growth Hormone Deficiency, Type Ii

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

Sources

Genetic Tests for Isolated Growth Hormone Deficiency, Type Ii

Sources

Anatomical Context for Isolated Growth Hormone Deficiency, Type Ii

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

⁴¹

Pituitary

Sources

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 )	Miletta M.C....Mullis P.E.	2016
2	Splice Site Mutations in GH1 Detected in Previously (Genetically) Undiagnosed Families with Congenital Isolated Growth Hormone Deficiency Type II. ( 24280736 )	Kempers M.J....Wit J.M.	2013
3	A novel GH1 mutation in a family with isolated growth hormone deficiency type II. ( 22188748 )	Gucev Z....PfAoffle R.	2012
4	A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II. ( 19837935 )	Hamid R....Patton J.G.	2009
5	Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function. ( 18554279 )	Shariat N....Patton J.G.	2008
6	Rescue of pituitary function in a mouse model of isolated growth hormone deficiency type II by RNA interference. ( 18006625 )	Shariat N....Patton J.G.	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 )	Kannenberg K....Binder G.	2007
8	A novel IVS2 -2A&gt;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 )	Fofanova O.V....Dedov I.I.	2003
9	An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II. ( 12000366 )	Takahashi I....Takada G.	2002
10	Isolated growth hormone deficiency, type II (sexual ateleiosis, type II). ( 5173170 )	Tyson J.E.	1971

Sources

Genes for Isolated Growth Hormone Deficiency, Type Ii

Genes related to Isolated Growth Hormone Deficiency, Type Ii (2 elite genes):

(show all 19)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GH1	Growth Hormone 1	Protein Coding	1579.13	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	9175738 9700205 11836331 (more) 12000366 16368751 17726075 18554279 8530604 10372722 10445339 7567462 10469016 12574219 9554464 17785368 7714096 8923859 12720086 17073157 17726075 20351314 12574219 16368751 11836331 7962317 8530604 17178704 18554279 17785368 12000366 17927666 19952226 15591149 18006625
2	POU1F1	POU Class 1 Homeobox 1	Protein Coding	350	Causative germline mutation (gain of function) ⁵⁹
3	GOSR2	Golgi SNAP Receptor Complex Member 2	Protein Coding	16.56	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	GHRHR	Growth Hormone Releasing Hormone Receptor	Protein Coding	15.8	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	IGF1	Insulin Like Growth Factor 1	Protein Coding	15.03	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	SRSF2	Serine And Arginine Rich Splicing Factor 2	Protein Coding	14.88	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	GHRH	Growth Hormone Releasing Hormone	Protein Coding	14.62	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	HSP90B1	Heat Shock Protein 90 Beta Family Member 1	Protein Coding	14.57	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	GHR	Growth Hormone Receptor	Protein Coding	14.41	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	STAT5B	Signal Transducer And Activator Of Transcription 5B	Protein Coding	13.88	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	HESX1	HESX Homeobox 1	Protein Coding	13.59	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
12	JAK2	Janus Kinase 2	Protein Coding	13.3	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
13	ANXA5	Annexin A5	Protein Coding	13.18	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
14	ELF5	E74 Like ETS Transcription Factor 5	Protein Coding	5.94	DISEASES inferred ¹⁵
15	RAB3A	RAB3A, Member RAS Oncogene Family	Protein Coding	5.67	DISEASES inferred ¹⁵
16	ELF3	E74 Like ETS Transcription Factor 3	Protein Coding	5.38	DISEASES inferred ¹⁵
17	SRSF1	Serine And Arginine Rich Splicing Factor 1	Protein Coding	5.16	DISEASES inferred ¹⁵
18	STAT5A	Signal Transducer And Activator Of Transcription 5A	Protein Coding	3.88	DISEASES inferred ¹⁵
19	ESX1	ESX Homeobox 1	Protein Coding	3.8	DISEASES inferred ¹⁵

Sources

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

Sources

Expression for Isolated Growth Hormone Deficiency, Type Ii

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

Sources

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 29)

#	Super pathways	Score	Top Affiliating Genes
1	TGF-Beta Pathway ⁶⁴ Show member pathways JAK-STAT Pathway ⁶⁴ JNK Pathway ⁶⁴ MAPK Family Pathway ⁶⁴ Regulation of eIF4 and p70S6K ⁶⁴ SOCS Pathway ⁶⁴	13.4	GH1 GHR GHRH IGF1 JAK2 STAT5A
2	PI3K-Akt signaling pathway ³⁷ Show member pathways Human papillomavirus infection ³⁷	12.87	GH1 GHR HSP90B1 IGF1 JAK2
3	Pathways in cancer ³⁷	12.72	HSP90B1 IGF1 JAK2 STAT5A STAT5B
4	Influenza A ³⁷ Show member pathways Herpes simplex infection ³⁷ Measles ³⁷	12.66	JAK2 SRSF1 SRSF2 STAT5A STAT5B
5	ErbB4 Pathway ⁶⁴ Show member pathways ErbB Family Pathway ⁶⁴ ErbB2-ErbB3 Heterodimers ⁶⁴ Growth Hormone Signaling ⁶⁴ IL-4 Pathway ⁶⁴ Prolactin Signaling ⁶⁴ Thrombopoietin Pathway ⁶⁴ UVC-Induced MAPK Signaling ⁶⁴	12.43	GH1 GHR IGF1 JAK2 STAT5A STAT5B
6	Regulation of IFNA signaling ⁶⁶ Show member pathways Cytokine Network ⁶⁴ Immune response IFN alpha/beta signaling pathway ²² Interferon alpha/beta signaling ⁶⁶ Interleukin-19, 20, 22, 24 ⁶⁶ Jak/STAT Signaling Pathway ⁶⁵ Jak-STAT signaling pathway ³⁷	12.4	GH1 GHR JAK2 STAT5A STAT5B
7	Prolactin Signaling Pathway ¹ ³⁷ Show member pathways Development Prolactin receptor signaling ²² Leptin signaling pathway ¹	12.22	ELF5 GH1 JAK2 STAT5A STAT5B
8	Immune response Antigen presentation by MHC class II ²² Show member pathways G-protein signaling N-RAS regulation pathway ²² IL-22 Pathway ⁶⁴ Immune response IL-22 signaling pathway ²²	12.04	JAK2 STAT5A STAT5B
9	Brain-Derived Neurotrophic Factor (BDNF) signaling pathway ¹	11.97	JAK2 RAB3A STAT5A STAT5B
10	Signaling pathways regulating pluripotency of stem cells ³⁷	11.9	ESX1 HESX1 IGF1 JAK2
11	Adipogenesis ¹	11.85	GH1 IGF1 STAT5A STAT5B
12	Immune response IL-2 activation and signaling pathway ²² Show member pathways Immune response IL-3 activation and signaling pathway ²²	11.84	JAK2 STAT5A STAT5B
13	Signaling by ERBB4 ⁶⁶ Show member pathways Downregulation of ERBB4 signaling ⁶⁶ ErbB4 signaling events ¹ Nuclear signaling by ERBB4 ⁶⁶	11.83	JAK2 STAT5A STAT5B
14	Visual Cycle in Retinal Rods ⁶⁴	11.78	JAK2 STAT5A STAT5B
15	AGE-RAGE signaling pathway in diabetic complications ³⁷	11.78	JAK2 STAT5A STAT5B
16	Development EPO-induced Jak-STAT pathway ²² Show member pathways EPO Receptor Signaling ¹ EPO signaling pathway ¹	11.77	JAK2 STAT5A STAT5B
17	Glucocorticoid receptor regulatory network ¹	11.68	POU1F1 STAT5A STAT5B
18	CXCR4-mediated signaling events ¹	11.64	JAK2 STAT5A STAT5B
19	AGE/RAGE pathway ¹	11.56	JAK2 STAT5A STAT5B
20	IL4-mediated signaling events ¹	11.53	JAK2 STAT5A STAT5B
21	Signaling events mediated by PTP1B ¹	11.42	JAK2 STAT5A STAT5B
22	Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway ¹	11.38	JAK2 STAT5A STAT5B
23	Development_Glucocorticoid receptor signaling ²²	11.31	HSP90B1 STAT5A STAT5B
24	Jak/STAT Signaling Pathway Intracellular Regulation ⁶⁵	11.27	JAK2 STAT5A STAT5B
25	Type III Interferon Signaling Pathways ⁶⁵ Show member pathways Type III interferon signaling ¹	11.24	JAK2 STAT5A STAT5B
26	Endochondral Ossification ¹	11.07	GH1 GHR IGF1 STAT5B
27	Immune response_IL-12 signaling pathway ²² Show member pathways Interleukin-12 signaling ⁶⁶	10.96	JAK2 STAT5A STAT5B
28	Growth hormone receptor signaling ⁶⁶ Show member pathways Prolactin receptor signaling ⁶⁶	10.63	GH1 GHR JAK2 STAT5A STAT5B
29	Immune response_Oncostatin M signaling via JAK-Stat in human cells ²²	10.61	JAK2 STAT5A STAT5B

Sources

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 35)

#	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	9.81	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	oxaloacetate metabolic process	GO:0006107	9.73	GHR STAT5A STAT5B
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	growth hormone receptor signaling pathway	GO:0060396	9.71	GH1 GHR JAK2
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	hormone metabolic process	GO:0042445	9.67	GHR GHRHR
14	citrate metabolic process	GO:0006101	9.67	GHR STAT5A STAT5B
15	insulin-like growth factor receptor signaling pathway	GO:0048009	9.66	GHR IGF1
16	determination of adult lifespan	GO:0008340	9.66	GHRHR POU1F1
17	interleukin-15-mediated signaling pathway	GO:0035723	9.65	STAT5A STAT5B
18	positive regulation of protein import into nucleus, translocation	GO:0033160	9.65	IGF1 JAK2
19	interleukin-2-mediated signaling pathway	GO:0038110	9.65	STAT5A STAT5B
20	valine metabolic process	GO:0006573	9.65	GHR STAT5A STAT5B
21	positive regulation of hormone secretion	GO:0046887	9.64	GHRH GHRHR
22	positive regulation of growth hormone secretion	GO:0060124	9.64	GHRH GHRHR
23	regulation of insulin-like growth factor receptor signaling pathway	GO:0043567	9.63	GHRHR POU1F1
24	taurine metabolic process	GO:0019530	9.63	GHR STAT5A STAT5B
25	growth hormone secretion	GO:0030252	9.62	GHRH GHRHR
26	activation of Janus kinase activity	GO:0042976	9.62	GHR JAK2
27	somatotropin secreting cell development	GO:0060133	9.59	GHRHR POU1F1
28	creatinine metabolic process	GO:0046449	9.54	GHR STAT5A STAT5B
29	isoleucine metabolic process	GO:0006549	9.5	GHR STAT5A STAT5B
30	positive regulation of insulin-like growth factor receptor signaling pathway	GO:0043568	9.46	GH1 GHRH GHRHR IGF1
31	allantoin metabolic process	GO:0000255	9.43	GHR STAT5A STAT5B
32	JAK-STAT cascade involved in growth hormone signaling pathway	GO:0060397	9.35	GH1 GHR JAK2 STAT5A STAT5B
33	positive regulation of multicellular organism growth	GO:0040018	9.1	GH1 GHR GHRH GHRHR POU1F1 STAT5B
34	positive regulation of cell proliferation	GO:0008284	10.08	GHRH GHRHR IGF1 JAK2 POU1F1 STAT5B
35	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	RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	9.5	ELF3 ELF5 ESX1 HESX1 POU1F1 STAT5A
2	growth hormone receptor binding	GO:0005131	8.62	GH1 JAK2

Sources

Sources for Isolated Growth Hormone Deficiency, Type Ii

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia