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

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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

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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.

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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:

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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	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

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Drugs & Therapeutics for Isolated Growth Hormone Deficiency, Type Ii

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

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Genetic Tests for Isolated Growth Hormone Deficiency, Type Ii

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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

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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 )	Hamid R...Patton JG	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 )		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&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 )		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

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Genes for Isolated Growth Hormone Deficiency, Type Ii

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

(show all 20)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GH1	Growth Hormone 1	Protein Coding	1579.06	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	8530604 10372722 10445339 (more) 7714096 8923859 7567462 9175738 9700205 10469016 11836331 12000366 12574219 16368751 9554464 17785368 17726075 18554279 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	16.5	DISEASES inferred ¹⁵
4	GHRHR	Growth Hormone Releasing Hormone Receptor	Protein Coding	15.76	DISEASES inferred ¹⁵
5	IGF1	Insulin Like Growth Factor 1	Protein Coding	14.97	DISEASES inferred ¹⁵
6	SRSF2	Serine And Arginine Rich Splicing Factor 2	Protein Coding	14.8	DISEASES inferred ¹⁵
7	GHRH	Growth Hormone Releasing Hormone	Protein Coding	14.59	DISEASES inferred ¹⁵
8	HSP90B1	Heat Shock Protein 90 Beta Family Member 1	Protein Coding	14.46	DISEASES inferred ¹⁵
9	GHR	Growth Hormone Receptor	Protein Coding	14.39	DISEASES inferred ¹⁵
10	STAT5B	Signal Transducer And Activator Of Transcription 5B	Protein Coding	13.8	DISEASES inferred ¹⁵
11	HESX1	HESX Homeobox 1	Protein Coding	13.55	DISEASES inferred ¹⁵
12	JAK2	Janus Kinase 2	Protein Coding	13.21	DISEASES inferred ¹⁵
13	ANXA5	Annexin A5	Protein Coding	13.03	DISEASES inferred ¹⁵
14	SST	Somatostatin	Protein Coding	12.96	DISEASES inferred ¹⁵
15	ELF5	E74 Like ETS Transcription Factor 5	Protein Coding	5.82	DISEASES inferred ¹⁵
16	RAB3A	RAB3A, Member RAS Oncogene Family	Protein Coding	5.6	DISEASES inferred ¹⁵
17	ELF3	E74 Like ETS Transcription Factor 3	Protein Coding	5.25	DISEASES inferred ¹⁵
18	SRSF1	Serine And Arginine Rich Splicing Factor 1	Protein Coding	5.03	DISEASES inferred ¹⁵
19	STAT5A	Signal Transducer And Activator Of Transcription 5A	Protein Coding	3.8	DISEASES inferred ¹⁵
20	ESX1	ESX Homeobox 1	Protein Coding	3.77	DISEASES inferred ¹⁵

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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

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Expression for Isolated Growth Hormone Deficiency, Type Ii

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

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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	Pathways in cancer ³⁷	12.72	HSP90B1 IGF1 JAK2 STAT5A STAT5B
2	Influenza A ³⁷ Show member pathways Herpes simplex infection ³⁷ Measles ³⁷	12.67	JAK2 SRSF1 SRSF2 STAT5A STAT5B
3	Prolactin Signaling Pathway ¹ ³⁷ Show member pathways Development Prolactin receptor signaling ²² Leptin signaling pathway ¹	12.22	ELF5 GH1 JAK2 STAT5A STAT5B
4	JAK-STAT signaling pathway (KEGG) ³⁷ Show member pathways Interleukin-19, 20, 22, 24 ⁶⁶ Jak/STAT Signaling Pathway ⁶⁵	12.17	GH1 GHR JAK2 STAT5A STAT5B
5	Development IGF-1 receptor signaling ²² Show member pathways IL-4 Signaling Pathway ¹ Immune response IL-4 signaling pathway ²² Signal transduction AKT signaling ²²	12.04	HSP90B1 IGF1 JAK2 STAT5A STAT5B
6	Brain-Derived Neurotrophic Factor (BDNF) signaling pathway ¹	11.97	JAK2 RAB3A STAT5A STAT5B
7	Signaling pathways regulating pluripotency of stem cells ³⁷	11.9	ESX1 HESX1 IGF1 JAK2
8	Adipogenesis ¹	11.85	GH1 IGF1 STAT5A STAT5B
9	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
10	AGE-RAGE signaling pathway in diabetic complications ³⁷	11.78	JAK2 STAT5A STAT5B
11	Visual Cycle in Retinal Rods ⁶⁴	11.77	JAK2 STAT5A STAT5B
12	Development EPO-induced Jak-STAT pathway ²² Show member pathways EPO Receptor Signaling ¹ EPO signaling pathway ¹	11.77	JAK2 STAT5A STAT5B
13	Glucocorticoid receptor regulatory network ¹	11.68	POU1F1 STAT5A STAT5B
14	CXCR4-mediated signaling events ¹	11.63	JAK2 STAT5A STAT5B
15	AGE/RAGE pathway ¹	11.56	JAK2 STAT5A STAT5B
16	IL4-mediated signaling events ¹	11.53	JAK2 STAT5A STAT5B
17	Signaling events mediated by PTP1B ¹	11.42	JAK2 STAT5A STAT5B
18	Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway ¹	11.38	JAK2 STAT5A STAT5B
19	Development_Glucocorticoid receptor signaling ²²	11.31	HSP90B1 STAT5A STAT5B
20	Jak/STAT Signaling Pathway Intracellular Regulation ⁶⁵	11.27	JAK2 STAT5A STAT5B
21	Type III Interferon Signaling Pathways ⁶⁵ Show member pathways Type III interferon signaling ¹	11.24	JAK2 STAT5A STAT5B
22	Development_Thrombopoetin signaling via JAK-STAT pathway ²²	11.17	JAK2 STAT5A STAT5B
23	Endochondral Ossification ¹	11.07	GH1 GHR IGF1 STAT5B
24	Immune response_IL-12 signaling pathway ²² Show member pathways Interleukin-12 signaling ⁶⁶	10.96	JAK2 STAT5A STAT5B
25	Growth hormone receptor signaling ⁶⁶ Show member pathways Prolactin receptor signaling ⁶⁶	10.63	GH1 GHR JAK2 STAT5A STAT5B
26	Immune response_Oncostatin M signaling via JAK-Stat in human cells ²²	10.61	JAK2 STAT5A STAT5B

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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

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

Isolated Growth Hormone Deficiency, Type Ii (IGHD2)

Aliases & Classifications for Isolated Growth Hormone Deficiency, Type Ii

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

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Isolated Growth Hormone Deficiency, Type Ii

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:

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

Symptoms & Phenotypes for Isolated Growth Hormone Deficiency, Type Ii

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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

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

Drugs & Therapeutics for Isolated Growth Hormone Deficiency, Type Ii

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

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

Variations for Isolated Growth Hormone Deficiency, Type Ii

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

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

Expression 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:

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:

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

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

Sources for Isolated Growth Hormone Deficiency, Type Ii