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 ⁴³ ⁷¹

Ighd Ii ⁵⁷ ¹¹ ¹⁹ ⁷³ ⁵³ ⁵

Isolated Growth Hormone Deficiency Type Ii ¹¹ ¹⁹ ⁵⁸ ⁷³ ¹⁴

Growth Hormone Deficiency, Isolated, Type Ii ⁵⁷ ¹² ³⁸

Ighd2 ⁵⁷ ¹⁹ ⁷³

Pituitary Dwarfism Due to Isolated Growth Hormone Deficiency Autosomal Dominant ¹⁹ ⁷³

Congenital Isolated Growth Hormone Deficiency Type Ii ¹¹ ⁵⁸

Congenital Isolated Gh Deficiency Type Ii ¹¹ ⁵⁸

Congenital Ighd Type Ii ¹¹ ⁵⁸

Pituitary Dwarfism Due to Isolated Growth Hormone Deficiency, Autosomal Dominant ⁵⁷

Autosomal Dominant Pituitary Dwarfism Due to Isolated Growth Hormone Deficiency ¹¹

Growth Hormone Deficiency, Isolated, Autosomal Dominant ⁵⁷

Growth Hormone Deficiency, Isolated Autosomal Dominant ¹⁹

Autosomal Dominant Isolated Growth Hormone Deficiency ¹¹

Growth Hormone Deficiency Isolated Autosomal Dominant ⁷³

Isolated Growth Hormone Deficiency Type 2 ¹⁹

Growth Hormone Deficiency, Isolated, 2 ⁷³

Characteristics:

Inheritance:

Isolated Growth Hormone Deficiency, Type Ii: Autosomal dominant form ⁵⁷

Isolated Growth Hormone Deficiency Type Ii: Autosomal dominant ⁵⁸

Age Of Onset:

Isolated Growth Hormone Deficiency Type Ii: Infancy,Neonatal ⁵⁸

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

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 ¹¹ DOID:0060872

OMIM® ⁵⁷ 173100

OMIM Phenotypic Series ⁵⁷ PS262400

MeSH ⁴³ C562704 D004393

ICD10 ³¹ E23.0

ICD10 via Orphanet ³² E23.0

UMLS via Orphanet ⁷² C0271567

Orphanet ⁵⁸ ORPHA231679

MedGen ⁴⁰ C0271567

SNOMED-CT via HPO ⁶⁹ 2109003 237836003 237837007 more

UMLS ⁷¹ C0271567

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Summaries for Isolated Growth Hormone Deficiency, Type Ii

GARD: ¹⁹ 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).

MalaCards based summary: Isolated Growth Hormone Deficiency, Type Ii, also known as ighd 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 NF-KappaB Family Pathway and G-Beta Gamma Signaling. Affiliated tissues include pituitary and b cells, and related phenotypes are severe short stature and pituitary dwarfism

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) (Updated 08-Dec-2022)

Disease Ontology: ¹¹ 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 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 61)

#	Related Disease	Score	Top Affiliating Genes
1	isolated growth hormone deficiency	31.3	SOX3 PROP1 POU1F1 IGF1 HESX1 GHRHR
2	growth hormone deficiency	31.0	SOX3 HESX1 GHRHR GH1
3	isolated growth hormone deficiency, type ia	29.7	PROP1 IGF1 GHRHR GHRH GH1 GH-LCR
4	pituitary hypoplasia	29.7	SOX3 PROP1 POU1F1 IGF1 HESX1 GHRHR
5	kowarski syndrome	10.3	GH1 GH-LCR
6	pituitary hormone deficiency, combined or isolated, 1	10.3	POU1F1 HESX1
7	non-acquired panhypopituitarism	10.2	SOX3 PROP1
8	protein-deficiency anemia	10.2	GH2 GH1
9	hypothyroidism, central, with testicular enlargement	10.2	PROP1 POU1F1
10	diencephalic astrocytoma	10.2	GH2 GH1
11	marasmus	10.2	IGF1 GH1
12	hypothyroidism due to deficient transcription factors involved in pituitary development or function	10.2	PROP1 POU1F1 HESX1
13	combined pituitary hormone deficiencies, genetic forms	10.2	PROP1 POU1F1 HESX1
14	acth deficiency, isolated	10.1	PROP1 POU1F1 HESX1
15	pituitary-dependent cushing's disease	10.1	GHRH GH1
16	pituitary adenoma 1, multiple types	10.1	IGF1 GH1
17	isolated growth hormone deficiency type iii	10.1	SOX3 HESX1 GHRHR
18	acid-labile subunit deficiency	10.1
19	adamantinous craniopharyngioma	10.1	PROP1 HESX1
20	laron syndrome	10.1	IGF1 GHRHR GH1
21	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.1
22	pituitary tumors	10.1	PROP1 IGF1 GH1
23	carcinoid syndrome	10.1	IGF1 GHRH
24	pituitary infarct	10.1	IGF1 GHRH
25	adermatoglyphia	10.1	IGF1 GH2 GH1
26	hypothalamic disease	10.0	IGF1 GHRH GH1
27	pituitary apoplexy	10.0	IGF1 GH1
28	46,xy sex reversal	10.0	SOX3 PROP1 HESX1
29	growth hormone secreting pituitary adenoma	10.0	IGF1 GHRH GH1
30	prolactinoma	10.0	POU1F1 IGF1 GHRHR GH1
31	fibrous dysplasia	10.0	IGF1 GHRH GH1
32	sheehan syndrome	10.0	PROP1 POU1F1 IGF1 GH1
33	lissencephaly, x-linked, 2	10.0	IGF1 GHRHR GHRH
34	hypothyroidism, congenital, nongoitrous, 4	10.0	PROP1 POU1F1 IGF1 GH1
35	isolated growth hormone deficiency, type ib	10.0	GHRHR GHRH GH1 GH-LCR
36	mccune-albright syndrome	10.0	IGF1 GHRH GH1
37	empty sella syndrome	10.0	PROP1 POU1F1 IGF1 GH1
38	hyperprolactinemia	10.0	IGF1 GHRH GH1
39	craniopharyngioma	10.0	PROP1 POU1F1 IGF1 GH1
40	hormone producing pituitary cancer	10.0	IGF1 GHRH
41	insulin-like growth factor i	10.0	IGF1 GHRH GH1
42	disorder of sexual development	10.0	SOX3 IGF1 GH1
43	holoprosencephaly	10.0	SOX3 PROP1 POU1F1 HESX1
44	kallmann syndrome	9.9	SOX3 PROP1 POU1F1 HESX1
45	functioning pituitary adenoma	9.9	POU1F1 IGF1 GHRH GH1
46	adenoma	9.9	POU1F1 IGF1 GHRH GH1
47	acromegaly	9.9	IGF1 GHRHR GHRH GH1
48	cryptorchidism, unilateral or bilateral	9.9	SOX3 PROP1 IGF1 HESX1
49	hypogonadotropic hypogonadism	9.9	SOX3 PROP1 IGF1 HESX1
50	nerve compression syndrome	9.9	IGF1 GHRH

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

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

³⁰

#	Description	HPO Source Accession
1	severe short stature ³⁰	HP:0003510
2	pituitary dwarfism ³⁰	HP:0000839
3	decreased response to growth hormone stimulation test ³⁰	HP:0000824

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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 (Updated 08-Dec-2022)

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

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.24	CSHL1 ELF3 GALNS GH1 GH2 GHRH
2	growth/size/body region	MP:0005378	10.2	CREB3L2 CSHL1 ELF3 ELF5 GH1 GH2
3	nervous system	MP:0003631	10.14	CSHL1 GH1 GH2 GHRH GHRHR HESX1
4	endocrine/exocrine gland	MP:0005379	10	CSHL1 ELF5 GH1 GH2 GHRH GHRHR
5	respiratory system	MP:0005388	9.7	CSHL1 GH1 GH2 HESX1 IGF1 PROP1
6	reproductive system	MP:0005389	9.65	CSHL1 ELF5 GH1 GH2 GHRH GHRHR
7	mortality/aging	MP:0010768	9.47	CREB3L2 CSHL1 ELF3 ELF5 GH1 GH2

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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

Cochrane evidence based reviews: 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

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

MalaCards : Pituitary, B Cells

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Publications for Isolated Growth Hormone Deficiency, Type Ii

Articles related to Isolated Growth Hormone Deficiency, Type Ii:

(show top 50) (show all 97)

#	Title	Authors	PMID	Year
1	Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study. ⁵⁷ ⁵	Mullis PE...Binder G	15671105	2005
2	Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function. ⁵³ ⁶² ⁵⁷	Shariat N...Patton JG	18554279	2008
3	Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 gene. ⁵³ ⁶² ⁵	Hess O...Tenenbaum-Rakover Y	17785368	2007
4	Exon splice enhancer mutation (GH-E32A) causes autosomal dominant growth hormone deficiency. ⁵³ ⁶² ⁵	Petkovic V...Mullis PE	17726075	2007
5	A novel splicing mutation in exon 4 (456G>A) of the GH1 gene in a patient with congenital isolated growth hormone deficiency. ⁵³ ⁶² ⁵	Fofanova OV...Dedov II	17178704	2006
6	A novel deletion in the GH1 gene including the IVS3 branch site responsible for autosomal dominant isolated growth hormone deficiency. ⁵³ ⁶² ⁵	Vivenza D...Giordano M	16368751	2006
7	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. ⁵³ ⁶² ⁵	Fofanova OV...Dedov II	12574219	2003
8	An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II. ⁵³ ⁶² ⁵	Takahashi I...Takada G	12000366	2002
9	An exon splice enhancer mutation causes autosomal dominant GH deficiency. ⁵³ ⁶² ⁵	Moseley CT...Phillips JA	11836331	2002
10	A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency--a clinical research center study. ⁵³ ⁶² ⁵	Cogan JD...Groop L	8530604	1995
11	A novel GH-1 gene mutation (GH-P59L) causes partial GH deficiency type II combined with bioinactive GH syndrome. ⁶² ⁵	Petkovic V...Mullis PE	21546299	2011
12	Catch-up growth in autosomal dominant isolated growth hormone deficiency (IGHD type II). ⁶² ⁵	Binder G...Ranke MB	17360215	2007
13	Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA. ⁶² ⁵	McCarthy EM...Phillips JA	9700205	1998
14	Mechanisms responsible for dominant expression of human growth hormone gene mutations. ⁶² ⁵	Binder G...Parks JS	8923859	1996
15	Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis. ⁶² ⁵	Binder G...Ranke MB	7714096	1995
16	Short stature in two siblings heterozygous for a novel bioinactive GH mutant (GH-P59S) suggesting that the mutant also affects secretion of the wild-type GH. ⁵	Petkovic V...Mullis PE	23417163	2013
17	Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD). ⁵⁷	Alatzoglou KS...Dattani MT	22139958	2012
18	Genetic screening of a Dutch population with isolated GH deficiency (IGHD). ⁵	de Graaff LC...Hokken-Koelega AC	18785993	2009
19	Genetics of growth hormone deficiency. ⁵	Mullis PE	17336732	2007
20	New GH-1 gene mutations: expanding the spectrum of causes of isolated growth hormone deficiency. ⁵	Mullis PE...Dannies PS	12510984	2002
21	Prolonged retention after aggregation into secretory granules of human R183H-growth hormone (GH), a mutant that causes autosomal dominant GH deficiency type II. ⁵	Zhu YL...Dannies PS	12399418	2002
22	A novel and de novo splice-donor site mutation in intron 3 of the GH-1 gene in a patient with isolated growth hormone deficiency. ⁵	Katsumata N...Tanaka T	11914025	2001
23	Isolated GH deficiency with dominant inheritance: new mutations, new insights. ⁵	Binder G...Ranke MB	11502827	2001
24	Autosomal dominant growth hormone (GH) deficiency type II: the Del32-71-GH deletion mutant suppresses secretion of wild-type GH. ⁵	Lee MS...Dannies PS	10698162	2000
25	A novel mutation at the donor splice site of intron 3 of the GH-I gene in a patient with isolated growth hormone deficiency. ⁵	Hayashi Y...Seo H	10629163	1999
26	Mutations in intron 3 of GH-1 gene associated with isolated GH deficiency type II in three Japanese families. ⁵	Kamijo T...Seo H	10469016	1999
27	A Japanese family with autosomal dominant growth hormone deficiency. ⁵	Saitoh H...Seo H	10445339	1999
28	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. ⁵	Hayashi Y...Seo H	10372722	1999
29	Hereditary isolated growth hormone deficiency caused by GH1 gene mutations in Japanese patients. ⁵	Kamijo T...Ogawa M	10549303	1999
30	Familial growth hormone deficiency associated with MRI abnormalities. ⁵⁷	Hamilton J...Daneman D	9805128	1998
31	The molecular genetics of growth hormone deficiency. ⁵	Procter AM...Cooper DN	9799079	1998
32	De novo mutations of the growth hormone gene: an important cause of congenital isolated growth hormone deficiency? ⁵	Massa GG...Wit JM	9578959	1998
33	Genetic defects in the control of growth hormone secretion. ⁵	Gertner JM...Leibel RL	9554464	1998
34	Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency. ⁵	Wagner JK...Mullis PE	9432120	1998
35	A novel mechanism of aberrant pre-mRNA splicing in humans. ⁵	Cogan JD...Phillips JA	9175738	1997
36	Detection of growth hormone gene defects by dideoxy fingerprinting (ddF). ⁵	Miyata I...Phillips JA	9152628	1997
37	An intronic (A/U)GGG repeat enhances the splicing of an alternative intron of the chicken beta-tropomyosin pre-mRNA. ⁵	Sirand-Pugnet P...Marie J	7567462	1995
38	18p monosomy with GH-deficiency and empty sella: good response to GH-treatment. ⁵⁷	Schober E...Frisch H	7554351	1995
39	Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency. ⁵⁷	Phillips JA...Cogan JD	8288694	1994
40	18p- syndrome and hypopituitarism. ⁵⁷	Artman HG...Stock AD	1404301	1992
41	A family case with autosomal-dominantly inherited pituitary dwarfism. ⁵⁷	Tani N...Kumahara Y	3660403	1987
42	Familial isolated growth hormone deficiency. ⁵⁷	van Gelderen HH...van der Hoog CE	7307312	1981
43	Aetiology of idiopathic growth hormone deficiency in England and Wales. ⁵⁷	Rona RJ...Tanner JM	848998	1977
44	Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome). ⁵⁷	Sadeghi-Nejad A...Senior B	4214375	1974
45	Isolated growth hormone deficiency. Two families with autosomal dominant inheritance. ⁵⁷	Poskitt EM...Rayner PH	4361890	1974
46	Studies in high-deficient dwarfs: the type II anomaly. ⁵⁷	Merimee TJ	5050736	1972
47	Hereditary isolated somatotropin deficiency: effects of human growth hormone administration. ⁵⁷	Sheikholislam BM...Stempfel RS	5010465	1972
48	[Familial hypopituitarism]. ⁵⁷	Butenandt O...Knorr D	5511839	1970
49	A metabolic and hormonal basis for classifying ateliotic dwarfs. ⁵⁷	Merimee TJ...McKusick VA	4180815	1969
50	Growth-hormone deficiency in man: an isolated, recessively inherited defect. ⁵⁷	Rimoin DL...Mc Kusick VA	4287048	1966

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Genes for Isolated Growth Hormone Deficiency, Type Ii

Genes related to Isolated Growth Hormone Deficiency, Type Ii (3 elite genes):

(show all 19)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GH1	Growth Hormone 1	Protein Coding	1599.32	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	7567462 7714096 8530604 (more) 8923859 9152628 9175738 9432120 9554464 9578959 9700205 9799079 10372722 10445339 10469016 10549303 10629163 10698162 11502827 11836331 11914025 12000366 12399418 12510984 12574219 15671105 16368751 17178704 17336732 17360215 17726075 17785368 18785993 21546299 23417163 19762173 22139958 12720086 17073157 20351314 7962317 18554279 17927666 19952226 15591149 18006625
2	GH-LCR	Growth Hormone Locus Control Region	Functional Element	425	Pathogenic ⁵ Likely pathogenic ⁵	7567462 7714096 8530604 (more) 8923859 9152628 9175738 9432120 9554464 9578959 9700205 9799079 10372722 10445339 10469016 10549303 10629163 10698162 11502827 11836331 11914025 12000366 12399418 12510984 12574219 15671105 16368751 17178704 17336732 17360215 17726075 17785368 18785993 21546299 23417163
3	POU1F1	POU Class 1 Homeobox 1	Protein Coding	354.26	Causative germline mutation (gain of function) ⁵⁸ DISEASES inferred ¹⁴	26612202
4	GHRHR	Growth Hormone Releasing Hormone Receptor	Protein Coding	7	DISEASES inferred ¹⁴
5	GOSR2	Golgi SNAP Receptor Complex Member 2	Protein Coding	5.29	DISEASES inferred ¹⁴
6	CREB3L2	CAMP Responsive Element Binding Protein 3 Like 2	Protein Coding	5.27	DISEASES inferred ¹⁴
7	HESX1	HESX Homeobox 1	Protein Coding	5.09	DISEASES inferred ¹⁴
8	CSHL1	Chorionic Somatomammotropin Hormone Like 1	Protein Coding	5.08	DISEASES inferred ¹⁴
9	PROP1	PROP Paired-Like Homeobox 1	Protein Coding	5.04	DISEASES inferred ¹⁴
10	SOX3	SRY-Box Transcription Factor 3	Protein Coding	4.94	DISEASES inferred ¹⁴
11	RESP18	Regulated Endocrine Specific Protein 18	Protein Coding	4.93	DISEASES inferred ¹⁴
12	IGF1	Insulin Like Growth Factor 1	Protein Coding	4.92	DISEASES inferred ¹⁴
13	GH2	Growth Hormone 2	Protein Coding	4.83	DISEASES inferred ¹⁴
14	GHRH	Growth Hormone Releasing Hormone	Protein Coding	4.79	DISEASES inferred ¹⁴
15	ELF3	E74 Like ETS Transcription Factor 3	Protein Coding	4.76	DISEASES inferred ¹⁴
16	RAB3A	RAB3A, Member RAS Oncogene Family	Protein Coding	4.75	DISEASES inferred ¹⁴
17	ELF5	E74 Like ETS Transcription Factor 5	Protein Coding	4.74	DISEASES inferred ¹⁴
18	GALNS	Galactosamine (N-Acetyl)-6-Sulfatase	Protein Coding	4.72	DISEASES inferred ¹⁴
19	PALM	Paralemmin	Protein Coding	4.68	DISEASES inferred ¹⁴

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Variations for Isolated Growth Hormone Deficiency, Type Ii

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

⁵ (show all 20)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	GH1, GH-LCR	NM_000515.5(GH1):c.291+6T>C	SNV	Pathogenic	15968	rs797044450	GRCh37: 17:61995371-61995371 GRCh38: 17:63918011-63918011
2	GH1, GH-LCR	NM_000515.5(GH1):c.291+1G>C	SNV	Pathogenic	15971	rs71640277	GRCh37: 17:61995376-61995376 GRCh38: 17:63918016-63918016
3	GH1, GH-LCR	NM_000515.5(GH1):c.291+28G>A	SNV	Pathogenic	15972	rs863223306	GRCh37: 17:61995349-61995349 GRCh38: 17:63917989-63917989
4	GH1, GH-LCR	NM_000515.5(GH1):c.291+5G>A	SNV	Pathogenic	15975	rs863223307	GRCh37: 17:61995372-61995372 GRCh38: 17:63918012-63918012
5	GH1, GH-LCR	NM_000515.5(GH1):c.176A>G (p.Glu59Gly)	SNV	Pathogenic	15977		GRCh37: 17:61995492-61995492 GRCh38: 17:63918132-63918132
6	GH1, GH-LCR	NM_000515.5(GH1):c.172-2A>T	SNV	Pathogenic	15979	rs863223309	GRCh37: 17:61995498-61995498 GRCh38: 17:63918138-63918138
7	GH1, GH-LCR	NM_000515.5(GH1):c.291+2T>C	SNV	Pathogenic	15980	rs863223310	GRCh37: 17:61995375-61995375 GRCh38: 17:63918015-63918015
8	GH1, GH-LCR	NM_000515.5(GH1):c.173A>C (p.Glu58Ala)	SNV	Pathogenic	15984		GRCh37: 17:61995495-61995495 GRCh38: 17:63918135-63918135
9	GH1, GH-LCR	NM_000515.5(GH1):c.291+1G>A	SNV	Pathogenic	15970	rs71640277	GRCh37: 17:61995376-61995376 GRCh38: 17:63918016-63918016
10	GH1, GH-LCR	NM_000515.5(GH1):c.172G>A (p.Glu58Lys)	SNV	Pathogenic	15985		GRCh37: 17:61995496-61995496 GRCh38: 17:63918136-63918136
11	GH1, GH-LCR	NM_000515.5(GH1):c.292-37_292-16del	DEL	Pathogenic	15982		GRCh37: 17:61995300-61995321 GRCh38: 17:63917940-63917961
12	GH1, GH-LCR	NM_000515.5(GH1):c.291+29_291+46del	DEL	Pathogenic	15973		GRCh37: 17:61995331-61995348 GRCh38: 17:63917971-63917988
13	GH1, GH-LCR	NM_000515.5(GH1):c.626G>A (p.Arg209His)	SNV	Pathogenic/Likely Pathogenic	15983	rs137853223	GRCh37: 17:61994697-61994697 GRCh38: 17:63917337-63917337
14	GH1, GH-LCR	NM_000515.5(GH1):c.131A>C (p.His44Pro)	SNV	Likely Pathogenic	998049	rs754126557	GRCh37: 17:61995746-61995746 GRCh38: 17:63918386-63918386
15	GH1, GH-LCR	NM_000515.5(GH1):c.254C>T (p.Pro85Leu)	SNV	Likely Pathogenic	1702861		GRCh37: 17:61995414-61995414 GRCh38: 17:63918054-63918054
16	GH1, GH-LCR	NM_000515.5(GH1):c.302T>C (p.Leu101Pro)	SNV	Uncertain Significance	1030835	rs1907452711	GRCh37: 17:61995274-61995274 GRCh38: 17:63917914-63917914
17	GH1, GH-LCR	NM_000515.5(GH1):c.452T>C (p.Met151Thr)	SNV	Uncertain Significance	1679136		GRCh37: 17:61995124-61995124 GRCh38: 17:63917764-63917764
18	GH1, GH-LCR	NM_000515.5(GH1):c.-4T>G	SNV	Benign	324460	rs6173	GRCh37: 17:61996140-61996140 GRCh38: 17:63918780-63918780
19	GH1, GH-LCR	NM_000515.5(GH1):c.7A>G (p.Thr3Ala)	SNV	Benign	289503	rs2001345	GRCh37: 17:61996130-61996130 GRCh38: 17:63918770-63918770
20	GH1, GH-LCR	NM_000515.5(GH1):c.152T>A (p.Phe51Tyr)	SNV	Benign	195080	rs61735357	GRCh37: 17:61995725-61995725 GRCh38: 17:63918365-63918365

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

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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:

#	Super pathways	Score	Top Affiliating Genes
1	NF-KappaB Family Pathway ⁶⁴ Show member pathways NF-KappaB (p50-p65) Pathway ⁶⁴	12.08	IGF1 GHRH GH2 GH1
2	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴	11.84	GHRHR GHRH GH2 GH1
3	G-protein signaling_RhoA regulation pathway ²²	10.61	IGF1 GHRH GH2 GH1

Sources

GO Terms for Isolated Growth Hormone Deficiency, Type Ii

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

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	response to nutrient levels	GO:0031667	9.99	GH2 GH1 CSHL1
2	positive regulation of receptor signaling pathway via JAK-STAT	GO:0046427	9.93	GH2 GH1 CSHL1
3	positive regulation of tyrosine phosphorylation of STAT protein	GO:0042531	9.92	IGF1 GH2 GH1 CSHL1
4	positive regulation of multicellular organism growth	GO:0040018	9.91	GHRHR GHRH GH1
5	animal organ development	GO:0048513	9.88	GH2 GH1 CSHL1
6	positive regulation of growth hormone secretion	GO:0060124	9.84	GHRHR GHRH
7	growth hormone secretion	GO:0030252	9.78	GHRHR GHRH
8	pituitary gland development	GO:0021983	9.77	HESX1 PROP1 SOX3
9	growth hormone receptor signaling pathway	GO:0060396	9.73	GH2 GH1 CSHL1
10	positive regulation of growth	GO:0045927	9.63	GH2 GH1 CSHL1
11	positive regulation of insulin-like growth factor receptor signaling pathway	GO:0043568	9.56	IGF1 GHRHR GHRH GH1
12	positive regulation of hormone secretion	GO:0046887	9.52	GHRHR GHRH
13	hormone secretion	GO:0046879	9.49	GHRHR GHRH
14	adenohypophysis development	GO:0021984	9.1	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 double-stranded DNA binding	GO:1990837	10.03	SOX3 PROP1 POU1F1 HESX1 ELF5 ELF3
2	growth factor activity	GO:0008083	9.76	IGF1 GH2 GH1 CSHL1
3	growth hormone receptor binding	GO:0005131	9.43	GH2 GH1 CSHL1
4	hormone activity	GO:0005179	9.28	IGF1 GHRH GH2 GH1 CSHL1

Sources

Sources for Isolated Growth Hormone Deficiency, Type Ii

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

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 NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

IGHD2 MCID: ISL114 MIFTS: 44	Isolated Growth Hormone Deficiency, Type Ii (IGHD2) Categories: Endocrine diseases, Genetic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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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:

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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

Cochrane evidence based reviews: isolated growth hormone deficiency, type ii

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Genes related to Isolated Growth Hormone Deficiency, Type Ii (3 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

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