IGHD3
MCID: ISL125
MIFTS: 28

Isolated Growth Hormone Deficiency Type Iii (IGHD3)

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Isolated Growth Hormone Deficiency Type Iii

MalaCards integrated aliases for Isolated Growth Hormone Deficiency Type Iii:

Name: Isolated Growth Hormone Deficiency Type Iii 12 58 15
Congenital Isolated Growth Hormone Deficiency Type Iii 12 58
Growth Hormone Deficiency with Hypogammaglobulinemia 12 52
X-Linked Isolated Growth Hormone Deficiency 12 58
Congenital Isolated Gh Deficiency Type Iii 12 58
Congenital Ighd Type Iii 12 58
Fleisher Syndrome 12 52
X-Linked Ighd 12 58
Ighd Iii 12 52
Hypogammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked 52
X-Linked Hypogammaglobulinemia and Isolated Growth Hormone Deficiency 12
Agammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked 52
X-Linked Agammaglobulinemia and Isolated Growth Hormone Deficiency 12
Growth Hormone Deficiency, Isolated, Type Iii ) 39
Isolated Growth Hormone Deficiency Type 3 52
Ighd3 52

Characteristics:

Orphanet epidemiological data:

58
isolated growth hormone deficiency type iii
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0060875
ICD10 32 E23.0
ICD10 via Orphanet 33 E23.0
Orphanet 58 ORPHA231692

Summaries for Isolated Growth Hormone Deficiency Type Iii

Disease Ontology : 12 An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has material basis in mutation in the BTK gene on chromosome Xq22.1.

MalaCards based summary : Isolated Growth Hormone Deficiency Type Iii, also known as congenital isolated growth hormone deficiency type iii, is related to isolated growth hormone deficiency and growth hormone deficiency. An important gene associated with Isolated Growth Hormone Deficiency Type Iii is SOX3 (SRY-Box Transcription Factor 3), and among its related pathways/superpathways are PAK Pathway and Deactivation of the beta-catenin transactivating complex. Affiliated tissues include pituitary, and related phenotypes are adipose tissue and endocrine/exocrine gland

Related Diseases for Isolated Growth Hormone Deficiency Type Iii

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

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency 31.1 SOX3 HESX1 GHRHR GHRH GH1 BTK
2 growth hormone deficiency 30.0 SOX3 HESX1 GHRHR GH1 BTK
3 isolated growth hormone deficiency, type iii, with agammaglobulinemia 12.7
4 agammaglobulinemia, x-linked 10.5
5 agammaglobulinemia 10.5
6 isolated growth hormone deficiency, type ia 10.2
7 dermatomyositis 10.2
8 meningoencephalitis 10.2
9 macular dystrophy, patterned, 2 10.2 HESX1 ESX1
10 borjeson-forssman-lehmann syndrome 10.2 SOX3 HESX1
11 macular dystrophy, patterned, 1 10.2 HESX1 ESX1
12 adamantinous craniopharyngioma 10.2 HESX1 ESX1
13 corneal staphyloma 10.1 KMT2D KMT2B
14 chondrodysplasia, blomstrand type 10.0 SOX3 GHRH
15 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 10.0 GHRH GH1
16 gigantism 10.0 GHRH GH1
17 growth hormone secreting pituitary adenoma 10.0 GHRHR GHRH
18 laron syndrome 10.0 GHRHR GH1
19 hypothalamic disease 10.0 GHRH GH1
20 congenital hypogammaglobulinemia 10.0 CD40LG BTK
21 pituitary-dependent cushing's disease 10.0 GHRH GH1
22 transient hypogammaglobulinemia of infancy 10.0 CD40LG BTK
23 transient hypogammaglobulinemia 10.0 CD40LG BTK
24 hyperpituitarism 9.9 GHRH GH1
25 waldenstroem's macroglobulinemia 9.9 CD40LG BTK
26 holoprosencephaly 9.9 SOX3 HESX1 ESX1
27 pseudohypoparathyroidism, type ia 9.9 GHRH GH1
28 immunodeficiency with hyper-igm, type 1 9.9 CD40LG BTK
29 immunoglobulin a deficiency 1 9.9 CD40LG BTK
30 congenital hypopituitarism 9.9 SOX3 HESX1 GHRH
31 vipoma 9.9 GHRH GH1
32 immunoglobulin alpha deficiency 9.8 CD40LG BTK
33 functioning pituitary adenoma 9.8 GHRH GH1
34 plasma protein metabolism disease 9.8 CD40LG BTK
35 pituitary stalk interruption syndrome 9.8 SOX3 HESX1 GHRHR GH1
36 pituitary hypoplasia 9.8 SOX3 HESX1 GHRHR GH1
37 isolated growth hormone deficiency, type ib 9.8 GHRHR GHRH GH1
38 dwarfism 9.8 GHRHR GHRH GH1
39 poliomyelitis 9.8 CD40LG BTK
40 acromegaly 9.7 GHRHR GHRH GH1
41 kallmann syndrome 9.7 SOX3 HESX1 ESX1
42 cd40 ligand deficiency 9.7 CD40LG BTK
43 pituitary adenoma 9.7 GHRHR GHRH GH1
44 x-linked monogenic disease 9.7 PHEX CD40LG BTK
45 hypothyroidism 9.5 SOX3 HESX1 GHRH GH1
46 isolated growth hormone deficiency, type ii 9.5 HESX1 GHRHR GHRH GH1
47 kleefstra syndrome 1 9.5 KMT2D KMT2B
48 aseptic meningitis 9.4 CD40LG CD2
49 multiple endocrine neoplasia, type i 9.4 KMT2D KMT2B GHRHR GHRH
50 hypopituitarism 9.3 SOX3 HESX1 GHRHR GHRH GH1

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



Diseases related to Isolated Growth Hormone Deficiency Type Iii

Symptoms & Phenotypes for Isolated Growth Hormone Deficiency Type Iii

MGI Mouse Phenotypes related to Isolated Growth Hormone Deficiency Type Iii:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.55 GHRH GHRHR KMT2B KMT2D PHEX
2 endocrine/exocrine gland MP:0005379 9.5 CD40LG GHRH GHRHR HESX1 KMT2B PHEX
3 nervous system MP:0003631 9.23 CD40LG GHRH GHRHR HESX1 KMT2B KMT2D

Drugs & Therapeutics for Isolated Growth Hormone Deficiency Type Iii

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

Genetic Tests for Isolated Growth Hormone Deficiency Type Iii

Anatomical Context for Isolated Growth Hormone Deficiency Type Iii

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

40
Pituitary

Publications for Isolated Growth Hormone Deficiency Type Iii

Articles related to Isolated Growth Hormone Deficiency Type Iii:

# Title Authors PMID Year
1
A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3. 61
24346842 2014
2
X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions. 61
19654509 2009

Variations for Isolated Growth Hormone Deficiency Type Iii

Expression for Isolated Growth Hormone Deficiency Type Iii

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

Pathways for Isolated Growth Hormone Deficiency Type Iii

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.42 GHRH GH1 CD40LG CD2 BTK
2 10.89 SOX3 KMT2D
3 10.74 CD40LG BTK
4 9.92 GHRH GH1 CD40LG CD2 BTK

GO Terms for Isolated Growth Hormone Deficiency Type Iii

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

# Name GO ID Score Top Affiliating Genes
1 histone methyltransferase complex GO:0035097 8.62 KMT2D KMT2B

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

# Name GO ID Score Top Affiliating Genes
1 cell maturation GO:0048469 9.46 GHRHR BTK
2 histone lysine methylation GO:0034968 9.43 KMT2D KMT2B
3 pituitary gland development GO:0021983 9.4 SOX3 HESX1
4 histone H3-K4 methylation GO:0051568 9.37 KMT2D KMT2B
5 positive regulation of growth hormone secretion GO:0060124 9.32 GHRHR GHRH
6 positive regulation of hormone secretion GO:0046887 9.26 GHRHR GHRH
7 adenohypophysis development GO:0021984 9.16 GHRHR GHRH
8 positive regulation of multicellular organism growth GO:0040018 9.13 GHRHR GHRH GH1
9 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 8.8 GHRHR GHRH GH1

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

# Name GO ID Score Top Affiliating Genes
1 histone-lysine N-methyltransferase activity GO:0018024 8.96 KMT2D KMT2B
2 histone methyltransferase activity (H3-K4 specific) GO:0042800 8.62 KMT2D KMT2B

Sources for Isolated Growth Hormone Deficiency Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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