IGHD1B
MCID: ISL015
MIFTS: 39

Isolated Growth Hormone Deficiency, Type Ib (IGHD1B)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Isolated Growth Hormone Deficiency, Type Ib

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

Name: Isolated Growth Hormone Deficiency, Type Ib 57 70
Isolated Growth Hormone Deficiency Type Ib 12 58 72 29 6 15
Growth Hormone Deficiency, Isolated, Type Ib 57 13 39
Ighd Ib 57 12 72
Ighd1b 57 20 72
Congenital Isolated Growth Hormone Deficiency Type Ib 12 58
Congenital Isolated Gh Deficiency Type Ib 12 58
Congenital Ighd Type Ib 12 58
Pituitary Dwarfism I 72 70
Dwarfism of Sindh 12 20
Isolated Growth Hormone Deficiency Type 1b 20
Growth Hormone Deficiency, Isolated, 1b 72
Ighd 1b 20

Characteristics:

Orphanet epidemiological data:

58
isolated growth hormone deficiency type ib
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

31
isolated growth hormone deficiency, type ib:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0060874
OMIM® 57 612781
OMIM Phenotypic Series 57 PS262400
MeSH 44 D004393
ICD10 32 E23.0
ICD10 via Orphanet 33 E23.0
UMLS via Orphanet 71 C2748571
Orphanet 58 ORPHA231671
MedGen 41 C2748571
UMLS 70 C0342573 C2748571

Summaries for Isolated Growth Hormone Deficiency, Type Ib

OMIM® : 57 IGHD type IB is an autosomal recessive disorder characterized by low but detectable levels of GH, short stature (more than 2 SD below the mean for age and sex), delayed bone age, and a good response to rhGH treatment without antibody formation (summary by Alatzoglou et al., 2014). For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see 262400. (612781) (Updated 05-Apr-2021)

MalaCards based summary : Isolated Growth Hormone Deficiency, Type Ib, also known as isolated growth hormone deficiency type ib, is related to isolated growth hormone deficiency, type iv and isolated growth hormone deficiency. An important gene associated with Isolated Growth Hormone Deficiency, Type Ib is GH1 (Growth Hormone 1), and among its related pathways/superpathways is G-protein signaling_RhoA regulation pathway. The drug Hormones has been mentioned in the context of this disorder. Affiliated tissues include pituitary, and related phenotypes are delayed skeletal maturation and short stature

Disease Ontology : 12 An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.

UniProtKB/Swiss-Prot : 72 Growth hormone deficiency, isolated, 1B: An autosomal recessive deficiency of growth hormone leading to short stature. Patients have low but detectable levels of growth hormone, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy.

Related Diseases for Isolated Growth Hormone Deficiency, Type Ib

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



Diseases related to Isolated Growth Hormone Deficiency, Type Ib

Symptoms & Phenotypes for Isolated Growth Hormone Deficiency, Type Ib

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

31
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 31 HP:0002750
2 short stature 31 HP:0004322
3 decreased response to growth hormone stimuation test 31 HP:0000824

Clinical features from OMIM®:

612781 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.36 CACNG7 GHRH GHRHR GPR137 GPR139 GPR149

Drugs & Therapeutics for Isolated Growth Hormone Deficiency, Type Ib

Drugs for Isolated Growth Hormone Deficiency, Type Ib (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Pituitary Size and Function in Familial Dwarfism of Sindh Completed NCT00004365

Search NIH Clinical Center for Isolated Growth Hormone Deficiency, Type Ib

Genetic Tests for Isolated Growth Hormone Deficiency, Type Ib

Genetic tests related to Isolated Growth Hormone Deficiency, Type Ib:

# Genetic test Affiliating Genes
1 Isolated Growth Hormone Deficiency Type Ib 29 GH1

Anatomical Context for Isolated Growth Hormone Deficiency, Type Ib

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

40
Pituitary

Publications for Isolated Growth Hormone Deficiency, Type Ib

Articles related to Isolated Growth Hormone Deficiency, Type Ib:

# Title Authors PMID Year
1
Growth hormone deficiency type IB caused by cryptic splicing of the GH-1 gene. 6 57 61
10689634 2000
2
Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency. 6 57
10678654 2000
3
Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency. 57 6
8496314 1993
4
Isolated growth hormone deficiency (GHD) in childhood and adolescence: recent advances. 57
24450934 2014
5
Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency. 57
8288694 1994
6
Growth-hormone-releasing factor in growth hormone deficiency: demonstration of a hypothalamic defect in growth hormone release. 57
6134983 1983
7
Effects of human pancreatic tumour growth hormone releasing factor on growth hormone and somatomedin C levels in patients with idiopathic growth hormone deficiency. 57
6134978 1983
8
A Novel Variant c.97C>T of the Growth Hormone Releasing Hormone Receptor Gene Causes Isolated Growth Hormone Deficiency Type Ib 61
29537382 2018
9
A surprising treatment response in a patient with rare isolated growth hormone deficiency, type IB. 61
29147571 2017
10
Mutation analysis of the muscarinic cholinergic receptor genes in isolated growth hormone deficiency type IB. 61
19417035 2009

Variations for Isolated Growth Hormone Deficiency, Type Ib

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

6 (show top 50) (show all 65)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GH1 , GH-LCR NM_000515.5(GH1):c.456+1G>C SNV Pathogenic 15966 rs797044449 GRCh37: 17:61995119-61995119
GRCh38: 17:63917759-63917759
2 GH1 , GH-LCR NM_000515.5(GH1):c.456+1G>T SNV Pathogenic 15967 rs797044449 GRCh37: 17:61995119-61995119
GRCh38: 17:63917759-63917759
3 GH1 , GH-LCR NM_000515.5(GH1):c.456+5G>C SNV Pathogenic 15976 rs863223308 GRCh37: 17:61995115-61995115
GRCh38: 17:63917755-63917755
4 GHRHR Indel Pathogenic 56966 GRCh37: 7:30999250-31006943
GRCh38: 7:30959635-30967328
5 GHRHR NC_000007.14:g.31008681G>T SNV Pathogenic 626257 rs1562606449 GRCh37: 7:31048296-31048296
GRCh38: 7:31008681-31008681
6 GHRHR NM_000823.4(GHRHR):c.1089_1093del (p.Leu364fs) Deletion Pathogenic 265396 rs748432685 GRCh37: 7:31016156-31016160
GRCh38: 7:30976541-30976545
7 GHRHR NM_000823.4(GHRHR):c.418T>C (p.Ser140Pro) SNV Likely pathogenic 161435 rs606231412 GRCh37: 7:31010785-31010785
GRCh38: 7:30971170-30971170
8 GHRHR NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln) SNV Likely pathogenic 161436 rs200848306 GRCh37: 7:31009494-31009494
GRCh38: 7:30969879-30969879
9 GHRHR NM_000823.4(GHRHR):c.495C>A (p.His165Gln) SNV Likely pathogenic 161437 rs606231413 GRCh37: 7:31011608-31011608
GRCh38: 7:30971993-30971993
10 GHRHR NM_000823.4(GHRHR):c.1250del (p.Lys417fs) Deletion Conflicting interpretations of pathogenicity 632503 rs771060895 GRCh37: 7:31018835-31018835
GRCh38: 7:30979220-30979220
11 GHRHR NM_000823.4(GHRHR):c.975-6C>A SNV Uncertain significance 729746 rs117572522 GRCh37: 7:31016038-31016038
GRCh38: 7:30976423-30976423
12 GHRHR NM_000823.4(GHRHR):c.93C>T (p.Ile31=) SNV Uncertain significance 749584 rs143429066 GRCh37: 7:31008484-31008484
GRCh38: 7:30968869-30968869
13 GHRHR NM_000823.4(GHRHR):c.47C>T (p.Pro16Leu) SNV Uncertain significance 909042 GRCh37: 7:31003730-31003730
GRCh38: 7:30964115-30964115
14 GHRHR NM_000823.4(GHRHR):c.10C>T (p.Arg4Trp) SNV Uncertain significance 909041 GRCh37: 7:31003693-31003693
GRCh38: 7:30964078-30964078
15 GHRHR NM_000823.4(GHRHR):c.489C>G (p.Tyr163Ter) SNV Uncertain significance 632502 rs147098353 GRCh37: 7:31011602-31011602
GRCh38: 7:30971987-30971987
16 GH1 , GH-LCR NM_000515.5(GH1):c.246G>C (p.Glu82Asp) SNV Uncertain significance 889155 GRCh37: 17:61995422-61995422
GRCh38: 17:63918062-63918062
17 GHRHR NM_000823.4(GHRHR):c.489C>T (p.Tyr163=) SNV Uncertain significance 198104 rs147098353 GRCh37: 7:31011602-31011602
GRCh38: 7:30971987-30971987
18 GHRHR NM_000823.4(GHRHR):c.6C>T (p.Asp2=) SNV Uncertain significance 911972 GRCh37: 7:31003689-31003689
GRCh38: 7:30964074-30964074
19 GHRHR NM_000823.4(GHRHR):c.660G>A (p.Leu220=) SNV Uncertain significance 597235 rs145466944 GRCh37: 7:31013662-31013662
GRCh38: 7:30974047-30974047
20 GHRHR NM_000823.4(GHRHR):c.580C>T (p.His194Tyr) SNV Uncertain significance 910807 GRCh37: 7:31011693-31011693
GRCh38: 7:30972078-30972078
21 GHRHR NM_000823.4(GHRHR):c.507C>G (p.Phe169Leu) SNV Uncertain significance 910806 GRCh37: 7:31011620-31011620
GRCh38: 7:30972005-30972005
22 GHRHR NM_000823.4(GHRHR):c.490G>A (p.Val164Ile) SNV Uncertain significance 910805 GRCh37: 7:31011603-31011603
GRCh38: 7:30971988-30971988
23 GHRHR NM_000823.4(GHRHR):c.*88T>A SNV Uncertain significance 909959 GRCh37: 7:31018947-31018947
GRCh38: 7:30979332-30979332
24 GHRHR NM_000823.4(GHRHR):c.447C>T (p.Thr149=) SNV Uncertain significance 909906 GRCh37: 7:31010814-31010814
GRCh38: 7:30971199-30971199
25 GHRHR NM_000823.4(GHRHR):c.359C>T (p.Ala120Val) SNV Uncertain significance 909905 GRCh37: 7:31009572-31009572
GRCh38: 7:30969957-30969957
26 GHRHR NM_000823.4(GHRHR):c.279A>G (p.Lys93=) SNV Uncertain significance 909904 GRCh37: 7:31009492-31009492
GRCh38: 7:30969877-30969877
27 GHRHR NM_000823.4(GHRHR):c.237G>A (p.Pro79=) SNV Uncertain significance 909902 GRCh37: 7:31008754-31008754
GRCh38: 7:30969139-30969139
28 GHRHR NM_000823.4(GHRHR):c.*29A>G SNV Uncertain significance 909107 GRCh37: 7:31018888-31018888
GRCh38: 7:30979273-30979273
29 GHRHR NM_000823.4(GHRHR):c.1242G>A (p.Ser414=) SNV Uncertain significance 909106 GRCh37: 7:31018829-31018829
GRCh38: 7:30979214-30979214
30 GHRHR NM_000823.4(GHRHR):c.1165C>T (p.Arg389Trp) SNV Uncertain significance 909105 GRCh37: 7:31018752-31018752
GRCh38: 7:30979137-30979137
31 GHRHR NM_000823.4(GHRHR):c.1105-14C>G SNV Uncertain significance 909104 GRCh37: 7:31016882-31016882
GRCh38: 7:30977267-30977267
32 GHRHR NM_000823.4(GHRHR):c.974+15T>G SNV Uncertain significance 909103 GRCh37: 7:31015498-31015498
GRCh38: 7:30975883-30975883
33 GHRHR NM_000823.4(GHRHR):c.200C>T (p.Thr67Met) SNV Uncertain significance 909045 GRCh37: 7:31008717-31008717
GRCh38: 7:30969102-30969102
34 GHRHR NM_000823.4(GHRHR):c.174C>A (p.Thr58=) SNV Uncertain significance 909044 GRCh37: 7:31008691-31008691
GRCh38: 7:30969076-30969076
35 GHRHR NM_000823.4(GHRHR):c.914G>A (p.Arg305His) SNV Uncertain significance 360036 rs200472991 GRCh37: 7:31015423-31015423
GRCh38: 7:30975808-30975808
36 GHRHR NM_000823.4(GHRHR):c.57+1G>T SNV Uncertain significance 360028 rs2302022 GRCh37: 7:31003741-31003741
GRCh38: 7:30964126-30964126
37 GHRHR NM_000823.4(GHRHR):c.640A>G (p.Met214Val) SNV Uncertain significance 360032 rs535947130 GRCh37: 7:31013642-31013642
GRCh38: 7:30974027-30974027
38 GHRHR NM_000823.4(GHRHR):c.812+12C>T SNV Uncertain significance 360034 rs151020002 GRCh37: 7:31014116-31014116
GRCh38: 7:30974501-30974501
39 GHRHR NM_000823.4(GHRHR):c.*198C>A SNV Uncertain significance 360040 rs886062276 GRCh37: 7:31019057-31019057
GRCh38: 7:30979442-30979442
40 GHRHR NM_000823.4(GHRHR):c.53C>T (p.Pro18Leu) SNV Uncertain significance 1031665 GRCh37: 7:31003736-31003736
GRCh38: 7:30964121-30964121
41 GHRHR NM_000823.4(GHRHR):c.882+11G>A SNV Uncertain significance 912023 GRCh37: 7:31014666-31014666
GRCh38: 7:30975051-30975051
42 GHRHR NM_000823.4(GHRHR):c.760G>A (p.Val254Met) SNV Uncertain significance 912022 GRCh37: 7:31014052-31014052
GRCh38: 7:30974437-30974437
43 GHRHR NM_000823.4(GHRHR):c.751+12G>A SNV Uncertain significance 912020 GRCh37: 7:31013765-31013765
GRCh38: 7:30974150-30974150
44 GHRHR NM_000823.4(GHRHR):c.512C>G (p.Thr171Ser) SNV Uncertain significance 287138 rs10227922 GRCh37: 7:31011625-31011625
GRCh38: 7:30972010-30972010
45 GHRHR NM_000823.4(GHRHR):c.741C>T (p.Leu247=) SNV Uncertain significance 284569 rs151019928 GRCh37: 7:31013743-31013743
GRCh38: 7:30974128-30974128
46 GHRHR NM_000823.4(GHRHR):c.875C>G (p.Ser292Trp) SNV Uncertain significance 360035 rs527387367 GRCh37: 7:31014648-31014648
GRCh38: 7:30975033-30975033
47 GHRHR NM_000823.4(GHRHR):c.*51C>T SNV Uncertain significance 360038 rs185262577 GRCh37: 7:31018910-31018910
GRCh38: 7:30979295-30979295
48 GHRHR NM_000823.4(GHRHR):c.29T>G (p.Val10Gly) SNV Uncertain significance 360027 rs139599160 GRCh37: 7:31003712-31003712
GRCh38: 7:30964097-30964097
49 GHRHR NM_000823.4(GHRHR):c.208T>G (p.Ser70Ala) SNV Uncertain significance 360029 rs775025721 GRCh37: 7:31008725-31008725
GRCh38: 7:30969110-30969110
50 GHRHR NM_000823.4(GHRHR):c.812C>T (p.Ala271Val) SNV Uncertain significance 360033 rs547906129 GRCh37: 7:31014104-31014104
GRCh38: 7:30974489-30974489

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

72 (show all 12)
# Symbol AA change Variation ID SNP ID
1 GH1 p.Leu16Pro VAR_015801
2 GH1 p.Asp37Asn VAR_015802
3 GH1 p.Arg42Cys VAR_015803 rs71640273
4 GH1 p.Thr53Ile VAR_015804
5 GH1 p.Lys67Arg VAR_015805
6 GH1 p.Asn73Asp VAR_015806 rs71640276
7 GH1 p.Ser97Phe VAR_015807
8 GH1 p.Glu100Lys VAR_015808
9 GH1 p.Gln117Leu VAR_015810
10 GH1 p.Ser134Cys VAR_015811
11 GH1 p.Ser134Arg VAR_015812
12 GH1 p.Thr201Ala VAR_015814

Expression for Isolated Growth Hormone Deficiency, Type Ib

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

Pathways for Isolated Growth Hormone Deficiency, Type Ib

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

# Super pathways Score Top Affiliating Genes
1 10.61 GRAP2 GHRH GH1 CACNG7

GO Terms for Isolated Growth Hormone Deficiency, Type Ib

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.03 TMEM181 PIRT PAQR6 PAQR4 MRGPRX1 MRGPRF
2 plasma membrane GO:0005886 9.73 PIRT PAQR6 MRGPRX1 MRGPRF MRGPRE GRB10
3 integral component of membrane GO:0016021 9.5 TMEM181 PIRT PAQR6 PAQR4 MRGPRX1 MRGPRF

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

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.91 MRGPRX1 MRGPRF MRGPRE GRB10 GPRC5C GPR149
2 G protein-coupled receptor signaling pathway GO:0007186 9.56 MRGPRX1 MRGPRF MRGPRE GPRC5C GPR149 GPR139
3 negative regulation of osteoclast differentiation GO:0045671 9.48 GPR137B GPR137
4 positive regulation of TORC1 signaling GO:1904263 9.46 GPR137B GPR137
5 negative regulation of bone resorption GO:0045779 9.43 GPR137B GPR137
6 positive regulation of hormone secretion GO:0046887 9.4 GHRHR GHRH
7 positive regulation of growth hormone secretion GO:0060124 9.37 GHRHR GHRH
8 positive regulation of multicellular organism growth GO:0040018 9.33 GHRHR GHRH GH1
9 adenohypophysis development GO:0021984 9.32 GHRHR GHRH
10 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 Ib according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor activity GO:0004930 9.17 MRGPRX1 MRGPRF MRGPRE GPRC5C GPR149 GPR139

Sources for Isolated Growth Hormone Deficiency, Type Ib

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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