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

IGHD2 MCID: ISL114 MIFTS: 40	Isolated Growth Hormone Deficiency, Type Ii (IGHD2) Categories: Endocrine diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes 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 ⁵⁶ ⁷¹

Isolated Growth Hormone Deficiency Type Ii ¹² ⁵² ⁵⁸ ⁷³ ¹⁵

Ighd Ii ⁵⁶ ¹² ⁵² ⁷³ ⁵⁴

Growth Hormone Deficiency, Isolated, Type Ii ⁵⁶ ¹³ ³⁹

Ighd2 ⁵⁶ ⁵² ⁷³

Pituitary Dwarfism Due to Isolated Growth Hormone Deficiency Autosomal Dominant ⁵² ⁷³

Congenital Isolated Growth Hormone Deficiency Type Ii ¹² ⁵⁸

Congenital Isolated Gh Deficiency Type Ii ¹² ⁵⁸

Congenital Ighd Type Ii ¹² ⁵⁸

Pituitary Dwarfism Due to Isolated Growth Hormone Deficiency, Autosomal Dominant ⁵⁶

Autosomal Dominant Pituitary Dwarfism Due to Isolated Growth Hormone Deficiency ¹²

Growth Hormone Deficiency, Isolated, Autosomal Dominant ⁵⁶

Growth Hormone Deficiency, Isolated Autosomal Dominant ⁵²

Autosomal Dominant Isolated Growth Hormone Deficiency ¹²

Growth Hormone Deficiency Isolated Autosomal Dominant ⁷³

Isolated Growth Hormone Deficiency Type 2 ⁵²

Growth Hormone Deficiency, Isolated, 2 ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

Inheritance:
autosomal dominant form

HPO:

³¹

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: ³² ³³

Endocrine, nutritional and metabolic diseases

Disorders of other endocrine glands

Hypofunction and other disorders of pituitary gland

Hypopituitarism

Orphanet: ⁵⁸

Rare endocrine diseases

External Ids:

Disease Ontology ¹² DOID:0060872

OMIM ⁵⁶ 173100

OMIM Phenotypic Series ⁵⁶ PS262400

MeSH ⁴³ D004393

ICD10 ³² E23.0

ICD10 via Orphanet ³³ E23.0

UMLS via Orphanet ⁷² C0271567

Orphanet ⁵⁸ ORPHA231679

MedGen ⁴¹ C0271567

SNOMED-CT via HPO ⁶⁸ 2109003 237836003 237837007 more

UMLS ⁷¹ C0271567

Sources

Summaries for Isolated Growth Hormone Deficiency, Type Ii

OMIM : ⁵⁶ 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 is Relaxin signaling pathway. Affiliated tissues include pituitary, 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 : ⁷³ 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.

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 top 50) (show all 63)

#	Related Disease	Score	Top Affiliating Genes
1	isolated growth hormone deficiency	31.6	PROP1 POU1F1 IGF1 HESX1 GHRHR GHRH
2	growth hormone deficiency	30.8	HESX1 GHRHR GH1
3	acid-labile subunit deficiency	30.4	IGF1 GH1
4	pituitary hypoplasia	30.0	POU1F1 HESX1 GHRHR GH1
5	central precocious puberty	10.3	IGF1 GH1
6	hypothyroidism, central, with testicular enlargement	10.3	PROP1 POU1F1
7	mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes	10.3	GHRH GH1
8	traumatic brain injury	10.3	IGF1 GH1
9	marasmus	10.3	IGF1 GH1
10	gigantism	10.3	GHRH GH1
11	pituitary apoplexy	10.3	IGF1 GH1
12	pituitary-dependent cushing's disease	10.2	GHRH GH1
13	hypothyroidism, congenital, nongoitrous, 4	10.2	PROP1 POU1F1 GH1
14	hypothalamic disease	10.2	GHRH GH1
15	hypothalamic obesity	10.2	IGF1 GHRH
16	sheehan syndrome	10.2	PROP1 IGF1
17	intracranial hypertension, idiopathic	10.2	IGF1 GH1
18	isolated growth hormone deficiency, type ia	10.2
19	pituitary infarct	10.2	IGF1 GHRH
20	carcinoid syndrome	10.2	IGF1 GHRH
21	pituitary hormone deficiency, combined, 1	10.2	POU1F1 HESX1
22	hormone producing pituitary cancer	10.2	IGF1 GHRH
23	empty sella syndrome	10.2	PROP1 IGF1 GH1
24	pituitary tumors	10.2	PROP1 IGF1 GH1
25	congenital hypothyroidism	10.1	POU1F1 IGF1 GH1
26	isolated growth hormone deficiency, type ib	10.1	GHRHR GHRH GH1
27	dwarfism	10.1	GHRHR GHRH GH1
28	hyperpituitarism	10.1	IGF1 GHRH GH1
29	pseudohypoparathyroidism, type ia	10.1	IGF1 GHRH GH1
30	functioning pituitary adenoma	10.1	IGF1 GHRH GH1
31	fibrous dysplasia	10.1	IGF1 GHRH GH1
32	islet cell tumor	10.0	IGF1 GHRH GH1
33	growth hormone secreting pituitary adenoma	10.0	IGF1 GHRHR GHRH
34	vipoma	10.0	GHRH GH1
35	hyperprolactinemia	10.0	IGF1 GHRH GH1
36	insulin-like growth factor i	10.0	IGF1 GHRH GH1
37	nerve compression syndrome	10.0	IGF1 GHRH
38	turner syndrome	10.0	IGF1 GHRH GH1
39	hypothyroidism due to deficient transcription factors involved in pituitary development or function	10.0	PROP1 POU1F1 HESX1
40	pituitary adenoma, prolactin-secreting	10.0	POU1F1 IGF1 GHRHR GH1
41	combined pituitary hormone deficiencies, genetic forms	10.0	PROP1 POU1F1 HESX1
42	adamantinous craniopharyngioma	10.0	PROP1 POU1F1 HESX1
43	pituitary adenoma 1, multiple types	10.0	IGF1 GH1
44	laron syndrome	10.0	PROP1 IGF1 GHRHR GH1
45	craniopharyngioma	10.0	PROP1 POU1F1 IGF1 GH1
46	borjeson-forssman-lehmann syndrome	10.0	PROP1 POU1F1 HESX1
47	anorexia nervosa	9.9	IGF1 GHRH GH1
48	peho syndrome	9.9	IGF1 HESX1
49	adenoma	9.9	POU1F1 IGF1 GHRH GH1
50	congenital hypopituitarism	9.9	PROP1 HESX1 GHRH

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

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

³¹

#	Description	HPO Source Accession
1	severe short stature ³¹	HP:0003510
2	growth hormone deficiency ³¹	HP:0000824
3	pituitary dwarfism ³¹	HP:0000839

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

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

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	9.73	CREB3L2 ELF3 GHRH GHRHR HESX1 HTRA2
2	mortality/aging	MP:0010768	9.36	CREB3L2 ELF3 GOSR2 HESX1 HTRA2 IGF1

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:

⁴⁰

Pituitary

Sources

Publications for Isolated Growth Hormone Deficiency, Type Ii

Articles related to Isolated Growth Hormone Deficiency, Type Ii:

(show top 50) (show all 54)

#	Title	Authors	PMID	Year
1	Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function. ⁶ ⁵⁶ ⁶¹ ⁵⁴	Shariat N...Patton JG	18554279	2008
2	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. ⁶ ⁶¹ ⁵⁴	Fofanova OV...Dedov II	12574219	2003
3	An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II. ⁶ ⁶¹ ⁵⁴	Takahashi I...Takada G	12000366	2002
4	Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 gene. ⁶ ⁵⁴	Hess O...Tenenbaum-Rakover Y	17785368	2007
5	Exon splice enhancer mutation (GH-E32A) causes autosomal dominant growth hormone deficiency. ⁵⁴ ⁶	Petkovic V...Mullis PE	17726075	2007
6	A novel deletion in the GH1 gene including the IVS3 branch site responsible for autosomal dominant isolated growth hormone deficiency. ⁵⁴ ⁶	Vivenza D...Giordano M	16368751	2006
7	An exon splice enhancer mutation causes autosomal dominant GH deficiency. ⁶ ⁵⁴	Moseley CT...Phillips JA	11836331	2002
8	A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency--a clinical research center study. ⁵⁴ ⁶	Cogan JD...Groop L	8530604	1995
9	Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD). ⁵⁶	Alatzoglou KS...Dattani MT	22139958	2012
10	Genetic screening of a Dutch population with isolated GH deficiency (IGHD). ⁶	de Graaff LC...Hokken-Koelega AC	18785993	2009
11	Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study. ⁵⁶	Mullis PE...Binder G	15671105	2005
12	Mutations in intron 3 of GH-1 gene associated with isolated GH deficiency type II in three Japanese families. ⁶	Kamijo T...Seo H	10469016	1999
13	A Japanese family with autosomal dominant growth hormone deficiency. ⁶	Saitoh H...Seo H	10445339	1999
14	Inhibition of growth hormone (GH) secretion by a mutant GH-I gene product in neuroendocrine cells containing secretory granules: an implication for isolated GH deficiency inherited in an autosomal dominant manner. ⁶	Hayashi Y...Seo H	10372722	1999
15	Familial growth hormone deficiency associated with MRI abnormalities. ⁵⁶	Hamilton J...Daneman D	9805128	1998
16	Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA. ⁶	McCarthy EM...Phillips JA	9700205	1998
17	De novo mutations of the growth hormone gene: an important cause of congenital isolated growth hormone deficiency? ⁶	Massa GG...Wit JM	9578959	1998
18	Genetic defects in the control of growth hormone secretion. ⁶	Gertner JM...Leibel RL	9554464	1998
19	A novel mechanism of aberrant pre-mRNA splicing in humans. ⁶	Cogan JD...Phillips JA	9175738	1997
20	Mechanisms responsible for dominant expression of human growth hormone gene mutations. ⁶	Binder G...Parks JS	8923859	1996
21	An intronic (A/U)GGG repeat enhances the splicing of an alternative intron of the chicken beta-tropomyosin pre-mRNA. ⁶	Sirand-Pugnet P...Marie J	7567462	1995
22	18p monosomy with GH-deficiency and empty sella: good response to GH-treatment. ⁵⁶	Schober E...Frisch H	7554351	1995
23	Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis. ⁶	Binder G...Ranke MB	7714096	1995
24	Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency. ⁵⁶	Phillips JA...Cogan JD	8288694	1994
25	18p- syndrome and hypopituitarism. ⁵⁶	Artman HG...Stock AD	1404301	1992
26	A family case with autosomal-dominantly inherited pituitary dwarfism. ⁵⁶	Tani N...Kumahara Y	3660403	1987
27	Familial isolated growth hormone deficiency. ⁵⁶	van Gelderen HH...van der Hoog CE	7307312	1981
28	Aetiology of idiopathic growth hormone deficiency in England and Wales. ⁵⁶	Rona RJ...Tanner JM	848998	1977
29	Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome). ⁵⁶	Sadeghi-Nejad A...Senior B	4214375	1974
30	Isolated growth hormone deficiency. Two families with autosomal dominant inheritance. ⁵⁶	Poskitt EM...Rayner PH	4361890	1974
31	Studies in high-deficient dwarfs: the type II anomaly. ⁵⁶	Merimee TJ	5050736	1972
32	Hereditary isolated somatotropin deficiency: effects of human growth hormone administration. ⁵⁶	Sheikholislam BM...Stempfel RS	5010465	1972
33	[Familial hypopituitarism]. ⁵⁶	Butenandt O...Knorr D	5511839	1970
34	A metabolic and hormonal basis for classifying ateliotic dwarfs. ⁵⁶	Merimee TJ...McKusick VA	4180815	1969
35	Growth-hormone deficiency in man: an isolated, recessively inherited defect. ⁵⁶	Rimoin DL...Mc Kusick VA	4287048	1966
36	Intrauterine growth retardation. ⁵⁶	WARKANY J...SUTHERLAND BS	13783175	1961
37	Rescue of pituitary function in a mouse model of isolated growth hormone deficiency type II by RNA interference. ⁶¹ ⁵⁴	Shariat N...Patton JG	18006625	2008
38	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. ⁶¹ ⁵⁴	Kannenberg K...Binder G	17927666	2007
39	GH-1 gene splicing mutations: molecular basis of hereditary isolated growth hormone deficiency in children. ⁵⁴ ⁶¹	Fofanova OV...Dedov II	17073157	2006
40	Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II. ⁵⁴ ⁶¹	Ryther RC...Patton JG	12720086	2003
41	Decreased Activity of the Ghrhr and Gh Promoters Causes Dominantly Inherited GH Deficiency in Humanized GH1 Mouse Models. ⁶¹	Ariyasu D...Araki K	31436800	2019
42	Endoplasmic Reticulum (ER) Stress and Endocrine Disorders. ⁶¹	Ariyasu D...Hasegawa Y	28208663	2017
43	Targeting GH-1 splicing as a novel pharmacological strategy for growth hormone deficiency type II. ⁶¹	Miletta MC...Mullis PE	27457999	2017
44	Splice site mutations in GH1 detected in previously (Genetically) undiagnosed families with congenital isolated growth hormone deficiency type II. ⁶¹	Kempers MJ...Wit JM	24280736	2013
45	A novel GH1 mutation in a family with isolated growth hormone deficiency type II. ⁶¹	Gucev Z...Pfaffle R	22188748	2012
46	Pharmacologic correction of dominant-negative GH1 deficiency causing mutations. ⁶¹	Poling JS...Hamid R	21707947	2011
47	Growth hormone (GH)-releasing hormone increases the expression of the dominant-negative GH isoform in cases of isolated GH deficiency due to GH splice-site mutations. ⁵⁴	Petkovic V...Mullis PE	20351314	2010
48	Growth hormone (GH) deficiency type II: a novel GH-1 gene mutation (GH-R178H) affecting secretion and action. ⁵⁴	Petkovic V...Mullis PE	19952226	2010
49	A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II. ⁶¹	Hamid R...Patton JG	19837935	2009
50	Growth hormone deficiency and splicing fidelity: two serine/arginine-rich proteins, ASF/SF2 and SC35, act antagonistically. ⁶¹	Solis AS...Patton JG	18586677	2008

Sources

Genes for Isolated Growth Hormone Deficiency, Type Ii

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

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GH1	Growth Hormone 1	Protein Coding	1573.77	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	10445339 9700205 10372722 (more) 17726075 7567462 8530604 18785993 9175738 10469016 18554279 17785368 9578959 12574219 11836331 7714096 12000366 9554464 8923859 16368751 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	354.83	Causative germline mutation (gain of function) ⁵⁸ DISEASES inferred ¹⁵
3	GHRHR	Growth Hormone Releasing Hormone Receptor	Protein Coding	7.32	DISEASES inferred ¹⁵
4	GOSR2	Golgi SNAP Receptor Complex Member 2	Protein Coding	5.83	DISEASES inferred ¹⁵
5	CREB3L2	CAMP Responsive Element Binding Protein 3 Like 2	Protein Coding	5.78	DISEASES inferred ¹⁵
6	PROP1	PROP Paired-Like Homeobox 1	Protein Coding	5.49	DISEASES inferred ¹⁵
7	IGF1	Insulin Like Growth Factor 1	Protein Coding	5.4	DISEASES inferred ¹⁵
8	HTRA2	HtrA Serine Peptidase 2	Protein Coding	5.36	DISEASES inferred ¹⁵
9	RESP18	Regulated Endocrine Specific Protein 18	Protein Coding	5.34	DISEASES inferred ¹⁵
10	GHRH	Growth Hormone Releasing Hormone	Protein Coding	5.32	DISEASES inferred ¹⁵
11	ELF5	E74 Like ETS Transcription Factor 5	Protein Coding	5.3	DISEASES inferred ¹⁵
12	ELF3	E74 Like ETS Transcription Factor 3	Protein Coding	5.25	DISEASES inferred ¹⁵
13	RAB3A	RAB3A, Member RAS Oncogene Family	Protein Coding	5.24	DISEASES inferred ¹⁵
14	RASSF9	Ras Association Domain Family Member 9	Protein Coding	5.22	DISEASES inferred ¹⁵
15	HESX1	HESX Homeobox 1	Protein Coding	5.13	DISEASES inferred ¹⁵

Sources

Variations for Isolated Growth Hormone Deficiency, Type Ii

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

⁶ (show all 17) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	GH1	NM_000515.5(GH1):c.291+6T>C	SNV	Pathogenic	15968	rs797044450	17:61995371-61995371	17:63918011-63918011
2	GH1	NM_000515.5(GH1):c.291+1G>A	SNV	Pathogenic	15970	rs71640277	17:61995376-61995376	17:63918016-63918016
3	GH1	NM_000515.5(GH1):c.291+1G>C	SNV	Pathogenic	15971	rs71640277	17:61995376-61995376	17:63918016-63918016
4	GH1	NM_000515.5(GH1):c.291+28G>A	SNV	Pathogenic	15972	rs863223306	17:61995349-61995349	17:63917989-63917989
5	GH1	GH1, IVS3DS, 18-BP DEL, +28-45	deletion	Pathogenic	15973
6	GH1	NM_000515.5(GH1):c.291+5G>A	SNV	Pathogenic	15975	rs863223307	17:61995372-61995372	17:63918012-63918012
7	GH1	GH1, EX3, A-G, +5	SNV	Pathogenic	15977
8	GH1	GH1, EX3DEL	deletion	Pathogenic	15978
9	GH1	NM_000515.5(GH1):c.172-2A>T	SNV	Pathogenic	15979	rs863223309	17:61995498-61995498	17:63918138-63918138
10	GH1	NM_000515.5(GH1):c.291+2T>C	SNV	Pathogenic	15980	rs863223310	17:61995375-61995375	17:63918015-63918015
11	GH1	GH1, IVS3, 22-BP DEL	deletion	Pathogenic	15982
12	GH1	NM_000515.5(GH1):c.626G>A (p.Arg209His)	SNV	Pathogenic	15983	rs137853223	17:61994697-61994697	17:63917337-63917337
13	GH1	GH1, EX3, A-C, +2	SNV	Pathogenic	15984
14	GH1	GH1, EX3, G-A, +1	SNV	Pathogenic	15985
15	GH1	NM_000515.5(GH1):c.152T>A (p.Phe51Tyr)	SNV	Benign/Likely benign	195080	rs61735357	17:61995725-61995725	17:63918365-63918365
16	GH1	NM_000515.5(GH1):c.7A>G (p.Thr3Ala)	SNV	Benign/Likely benign	289503	rs2001345	17:61996130-61996130	17:63918770-63918770
17	GH1	NM_000515.5(GH1):c.-4T>G	SNV	Benign/Likely benign	324460	rs6173	17:61996140-61996140	17:63918780-63918780

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

⁷³

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

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:

#	Super pathways	Score	Top Affiliating Genes
1	Relaxin signaling pathway ³⁶ Show member pathways Estrogen signaling pathway ³⁶ Growth hormone synthesis, secretion and action ³⁶ Relaxin receptors ⁶⁵	11.7	POU1F1 IGF1 GHRHR GHRH GH1 CREB3L2

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	chromatin	GO:0000785	9.13	POU1F1 HTRA2 CREB3L2
2	nuclear chromatin	GO:0000790	9.1	PROP1 POU1F1 HESX1 ELF5 ELF3 CREB3L2

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

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of transcription, DNA-templated	GO:0006355	10	PROP1 POU1F1 HESX1 ELF5 ELF3 CREB3L2
2	positive regulation of transcription by RNA polymerase II	GO:0045944	9.95	PROP1 POU1F1 IGF1 ELF5 ELF3 CREB3L2
3	regulation of multicellular organism growth	GO:0040014	9.51	IGF1 HTRA2
4	pituitary gland development	GO:0021983	9.5	PROP1 POU1F1 HESX1
5	determination of adult lifespan	GO:0008340	9.49	POU1F1 GHRHR
6	positive regulation of growth hormone secretion	GO:0060124	9.46	GHRHR GHRH
7	positive regulation of multicellular organism growth	GO:0040018	9.46	POU1F1 GHRHR GHRH GH1
8	positive regulation of hormone secretion	GO:0046887	9.43	GHRHR GHRH
9	regulation of insulin-like growth factor receptor signaling pathway	GO:0043567	9.4	POU1F1 GHRHR
10	somatotropin secreting cell differentiation	GO:0060126	9.37	PROP1 POU1F1
11	somatotropin secreting cell development	GO:0060133	9.26	POU1F1 GHRHR
12	positive regulation of insulin-like growth factor receptor signaling pathway	GO:0043568	9.26	IGF1 GHRHR GHRH GH1
13	adenohypophysis development	GO:0021984	8.92	PROP1 POU1F1 GHRHR GHRH

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

#	Name	GO ID	Score	Top Affiliating Genes
1	sequence-specific DNA binding	GO:0043565	9.65	PROP1 POU1F1 HESX1 ELF5 ELF3
2	RNA polymerase II proximal promoter sequence-specific DNA binding	GO:0000978	9.55	PROP1 POU1F1 HESX1 ELF3 CREB3L2
3	protein C-terminus binding	GO:0008022	9.54	RAB3A PROP1 HESX1
4	hormone activity	GO:0005179	9.5	IGF1 GHRH GH1
5	DNA-binding transcription factor activity, RNA polymerase II-specific	GO:0000981	9.43	PROP1 POU1F1 HESX1 ELF5 ELF3 CREB3L2
6	DNA-binding transcription activator activity, RNA polymerase II-specific	GO:0001228	9.02	PROP1 POU1F1 ELF5 ELF3 CREB3L2

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 EFO

¹⁸ ExPASy

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 HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Drugs & Therapeutics 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:

Publications for Isolated Growth Hormone Deficiency, Type Ii

Articles related to Isolated Growth Hormone Deficiency, Type Ii:

Genes for Isolated Growth Hormone Deficiency, Type Ii

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

Variations for Isolated Growth Hormone Deficiency, Type Ii

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

UniProtKB/Swiss-Prot 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