IGHD3
MCID: ISL122
MIFTS: 34

Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia (IGHD3)

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

Aliases & Classifications for Isolated Growth Hormone Deficiency, Type Iii, with...

MalaCards integrated aliases for Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia:

Name: Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia 56 73
Fleisher Syndrome 56 73
Ighd3 56 73
Short Stature Due to Isolated Growth Hormone Deficiency with X-Linked Hypogammaglobulinemia 58
Hypogammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked 56
X-Linked Hypogammaglobulinemia and Isolated Growth Hormone Deficiency 73
Agammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked 56
Growth Hormone Deficiency, Isolated, 3, with Agammaglobulinemia 73
Growth Hormone Deficiency with Hypogammaglobulinemia, X-Linked 56
Agammaglobulinemia and Isolated Growth Hormone Deficiency 73
Isolated Growth Hormone Deficiency Type 3 73
Ighd Iii 56

Characteristics:

Orphanet epidemiological data:

58
short stature due to isolated growth hormone deficiency with x-linked hypogammaglobulinemia
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
x-linked recessive

Miscellaneous:
susceptibility to infections starts in the first week of life


HPO:

31
isolated growth hormone deficiency, type iii, with agammaglobulinemia:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare endocrine diseases
Rare immunological diseases


Summaries for Isolated Growth Hormone Deficiency, Type Iii, with...

OMIM : 56 IGHD3 is characterized by agammaglobulinemia and markedly reduced numbers of B cells, short stature, delayed bone age, and good response to treatment with growth hormone (summary by Conley et al., 1991). For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see 262400. (307200)

MalaCards based summary : Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia, also known as fleisher syndrome, is related to isolated growth hormone deficiency type iii and agammaglobulinemia. An important gene associated with Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia is BTK (Bruton Tyrosine Kinase). Affiliated tissues include bone, b cells and t cells, and related phenotypes are encephalitis and hearing impairment

UniProtKB/Swiss-Prot : 73 Growth hormone deficiency, isolated, 3, with agammaglobulinemia: A X-linked recessive disorder characterized by growth hormone deficiency, short stature, delayed bone age, agammaglobulinemia with markedly reduced numbers of B cells, and good response to treatment with growth hormone.

Related Diseases for Isolated Growth Hormone Deficiency, Type Iii, with...

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

# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency type iii 11.3
2 agammaglobulinemia 10.6
3 agammaglobulinemia, x-linked 10.4
4 growth hormone deficiency 10.4
5 isolated growth hormone deficiency 10.2
6 isolated growth hormone deficiency, type ia 10.1
7 dermatomyositis 10.1
8 meningoencephalitis 10.1

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



Diseases related to Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia

Symptoms & Phenotypes for Isolated Growth Hormone Deficiency, Type Iii, with...

Human phenotypes related to Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 encephalitis 31 HP:0002383
2 hearing impairment 31 HP:0000365
3 delayed skeletal maturation 31 HP:0002750
4 chronic otitis media 31 HP:0000389
5 short stature 31 HP:0004322
6 sinusitis 31 HP:0000246
7 recurrent urinary tract infections 31 HP:0000010
8 diarrhea 31 HP:0002014
9 growth hormone deficiency 31 HP:0000824
10 conjunctivitis 31 HP:0000509
11 meningitis 31 HP:0001287
12 pneumonia 31 HP:0002090
13 recurrent bacterial infections 31 HP:0002718
14 prostatitis 31 HP:0000024
15 panhypogammaglobulinemia 31 HP:0003139
16 recurrent enteroviral infections 31 HP:0002743
17 septic arthritis 31 HP:0003095
18 epididymitis 31 HP:0000031
19 pyoderma 31 HP:0000999
20 enteroviral hepatitis 31 HP:0001412
21 enteroviral dermatomyositis syndrome 31 HP:0003729

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
encephalitis
meningitis

Growth Height:
short stature

Abdomen Gastrointestinal:
diarrhea

Head And Neck Eyes:
conjunctivitis

Genitourinary Internal Genitalia Male:
prostatitis
epididymitis

Skeletal Limbs:
septic arthritis
retarded bone age

Abdomen Liver:
enteroviral hepatitis

Genitourinary Kidneys:
urinary tract infections

Head And Neck Ears:
chronic otitis media
hearing loss

Head And Neck Head:
sinusitis

Endocrine Features:
growth hormone deficiency
delayed onset of puberty
deficient growth hormone response to insulin, arginine, or levodopa

Respiratory Lung:
pneumonia

Laboratory Abnormalities:
panhypogammaglobulinemia

Skin Nails Hair Skin:
pyoderma

Muscle Soft Tissue:
enteroviral dermatomyositis syndrome

Immunology:
frequent bacterial infections
severe enteroviral infections
absent b lymphocytes in all organs
absent antibody production
present but small tonsils
more

Clinical features from OMIM:

307200

Drugs & Therapeutics for Isolated Growth Hormone Deficiency, Type Iii, with...

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

Genetic Tests for Isolated Growth Hormone Deficiency, Type Iii, with...

Anatomical Context for Isolated Growth Hormone Deficiency, Type Iii, with...

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

40
Bone, B Cells, T Cells, Prostate, Tonsil, Pituitary

Publications for Isolated Growth Hormone Deficiency, Type Iii, with...

Articles related to Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia:

(show all 28)
# Title Authors PMID Year
1
Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. 56 6
7849697 1994
2
An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency. 56 6
8013627 1994
3
Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency. 56
1880652 1991
4
X-linked agammaglobulinemia and isolated growth hormone deficiency. 56
1872183 1991
5
Confirmation of X-linked hypogammaglobulinemia with isolated growth hormone deficiency as a disease entity. 56
2299506 1990
6
X-linked hypogammaglobulinemia and isolated growth hormone deficiency. 56
7189577 1980
7
Molecular profiling of immunoglobulin heavy-chain gene rearrangements unveils new potential prognostic markers for multiple myeloma patients. 61
32029700 2020
8
Blood signatures for second stage human African trypanosomiasis: a transcriptomic approach. 61
32000760 2020
9
In-Depth Analysis of Human Neonatal and Adult IgM Antibody Repertoires. 61
29459861 2018
10
Preferential Usage of Specific Immunoglobulin Heavy Chain Variable Region Genes With Unmutated Profile and Advanced Stage at Presentation Are Common Features in Patients With Chronic Lymphocytic Leukemia From Senegal. 61
29165569 2017
11
Dynamic gene expression response to altered gravity in human T cells. 61
28701719 2017
12
Deciphering antigen-responding antibody repertoires by using next-generation sequencing and confirming them through antibody-gene synthesis. 61
28412367 2017
13
Characterization of clonal immunoglobulin heavy (IGH) V-D-J gene rearrangements and the complementarity-determining region in South Indian patients with precursor B-cell acute lymphoblastic leukemia. 61
28401103 2017
14
The analysis of VH and VL genes repertoires of Fab library built from peripheral B cells of human rabies virus vaccinated donors. 61
24862931 2014
15
IGHV1-69 B cell chronic lymphocytic leukemia antibodies cross-react with HIV-1 and hepatitis C virus antigens as well as intestinal commensal bacteria. 61
24614505 2014
16
IGHV1-69-encoded antibodies expressed in chronic lymphocytic leukemia react with malondialdehyde-acetaldehyde adduct, an immunodominant oxidation-specific epitope. 61
23840319 2013
17
Mutational status and gene repertoire of IGHV-IGHD-IGHJ rearrangements in Serbian patients with chronic lymphocytic leukemia. 61
22560084 2012
18
Immune thrombocytopenia in patients with chronic lymphocytic leukemia is associated with stereotyped B-cell receptors. 61
22322667 2012
19
The IGHV1-69/IGHJ3 recombinations of unmutated CLL are distinct from those of normal B cells. 61
22234701 2012
20
Partial versus productive immunoglobulin heavy locus rearrangements in chronic lymphocytic leukemia: implications for B-cell receptor stereotypy. 61
21968789 2012
21
Clinical significance of productive immunoglobulin heavy chain gene rearrangements in childhood acute lymphoblastic leukemia. 61
21649543 2011
22
Individual variation in the germline Ig gene repertoire inferred from variable region gene rearrangements. 61
20495067 2010
23
IGHD3-3 fails to behave as unfavourable prognostic marker in chronic lymphocytic leukaemia. 61
20064162 2010
24
Chronic lymphocytic leukemia antibodies with a common stereotypic rearrangement recognize nonmuscle myosin heavy chain IIA. 61
18812466 2008
25
Nonstochastic pairing of immunoglobulin heavy and light chains expressed by chronic lymphocytic leukemia B cells is predicated on the heavy chain CDR3. 61
17675554 2008
26
Immunoglobulin diversity gene usage predicts unfavorable outcome in a subset of chronic lymphocytic leukemia patients. 61
18064298 2008
27
Reconsidering the human immunoglobulin heavy-chain locus: 1. An evaluation of the expressed human IGHD gene repertoire. 61
16402215 2006
28
The IgH locus of the channel catfish, Ictalurus punctatus, contains multiple constant region gene sequences: different genes encode heavy chains of membrane and secreted IgD. 61
12193718 2002

Variations for Isolated Growth Hormone Deficiency, Type Iii, with...

ClinVar genetic disease variations for Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia:

6 (show top 50) (show all 59) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BTK NM_000061.2(BTK):c.1750+5G>ASNV Pathogenic 11347 rs864321659 X:100608853-100608853 X:101353865-101353865
2 BTK NM_000061.2(BTK):c.83G>A (p.Arg28His)SNV Pathogenic 11348 rs128620185 X:100630190-100630190 X:101375202-101375202
3 BTK NM_000061.2(BTK):c.557dup (p.Pro187fs)duplication Pathogenic 11358 rs864321665 X:100617191-100617192 X:101362203-101362204
4 BTK NM_001287345.1(BTK):c.1038+813T>GSNV Pathogenic 11371 rs128621197 X:100612549-100612549 X:101357561-101357561
5 BTK NM_000061.2(BTK):c.1559G>A (p.Arg520Gln)SNV Pathogenic 11378 rs128621202 X:100611047-100611047 X:101356059-101356059
6 BTK NM_000061.2(BTK):c.1625T>C (p.Leu542Pro)SNV Pathogenic 11381 rs128621203 X:100609624-100609624 X:101354636-101354636
7 BTK NM_000061.2(BTK):c.1684C>T (p.Arg562Trp)SNV Pathogenic 11383 rs128621204 X:100608924-100608924 X:101353936-101353936
8 BTK NM_000061.2(BTK):c.119A>G (p.Tyr40Cys)SNV Pathogenic 449226 rs1555980875 X:100630154-100630154 X:101375166-101375166
9 BTK NM_000061.2(BTK):c.1581_1584del (p.Cys527fs)deletion Pathogenic 492818 rs1555977592 X:100609665-100609668 X:101354677-101354680
10 BTK NM_000061.2(BTK):c.863G>A (p.Arg288Gln)SNV Pathogenic 492813 rs1555978277 X:100614312-100614312 X:101359324-101359324
11 BTK NM_000061.2(BTK):c.215dup (p.Asn72fs)duplication Pathogenic 279713 rs886041148 X:100629548-100629549 X:101374560-101374561
12 BTK NM_000061.2(BTK):c.278C>A (p.Ser93Ter)SNV Pathogenic 580394 rs1569295678 X:100626652-100626652 X:101371664-101371664
13 BTK NM_000061.2(BTK):c.1688G>A (p.Trp563Ter)SNV Pathogenic 579604 rs1555977474 X:100608920-100608920 X:101353932-101353932
14 BTK NM_000061.2(BTK):c.1526T>C (p.Met509Thr)SNV Pathogenic 571649 rs1569291644 X:100611080-100611080 X:101356092-101356092
15 BTK NM_001287344.1(BTK):c.1813_1814TA[3] (p.Ser606fs)short repeat Pathogenic 647370 X:100608893-100608894 X:101353905-101353906
16 BTK NM_000061.2(BTK):c.1697C>G (p.Pro566Arg)SNV Pathogenic 646878 X:100608911-100608911 X:101353923-101353923
17 BTK NM_000061.2(BTK):c.1763G>A (p.Trp588Ter)SNV Pathogenic 645226 X:100608327-100608327 X:101353339-101353339
18 BTK NM_000061.2(BTK):c.1546C>T (p.Gln516Ter)SNV Pathogenic 645829 X:100611060-100611060 X:101356072-101356072
19 BTK NM_000061.2(BTK):c.1321G>T (p.Glu441Ter)SNV Pathogenic 656715 X:100611800-100611800 X:101356812-101356812
20 BTK NM_000061.2(BTK):c.1262G>A (p.Trp421Ter)SNV Pathogenic 659167 X:100611859-100611859 X:101356871-101356871
21 BTK NM_000061.2(BTK):c.756G>A (p.Trp252Ter)SNV Pathogenic 645498 X:100615576-100615576 X:101360588-101360588
22 BTK NM_000061.3(BTK):c.680del (p.Pro227fs)deletion Pathogenic 651001 X:100615652-100615652 X:101360664-101360664
23 BTK NM_000061.3(BTK):c.564del (p.Pro190fs)deletion Pathogenic 666035 X:100617185-100617185 X:101362197-101362197
24 BTK NM_000061.3(BTK):c.270del (p.Glu90fs)deletion Pathogenic 642455 X:100626660-100626660 X:101371672-101371672
25 BTK NM_000061.2(BTK):c.232C>T (p.Gln78Ter)SNV Pathogenic 658193 X:100629532-100629532 X:101374544-101374544
26 BTK NM_000061.2(BTK):c.1751-1G>CSNV Pathogenic 644461 X:100608340-100608340 X:101353352-101353352
27 BTK NM_000061.2(BTK):c.777-1G>ASNV Pathogenic 647326 X:100615139-100615139 X:101360151-101360151
28 BTK NM_000061.2(BTK):c.472_475del (p.Thr158fs)deletion Pathogenic/Likely pathogenic 35761 rs193922128 X:100617594-100617597 X:101362606-101362609
29 BTK NM_000061.2(BTK):c.862C>T (p.Arg288Trp)SNV Likely pathogenic 11366 rs128621194 X:100614313-100614313 X:101359325-101359325
30 BTK NM_000061.2(BTK):c.1696C>T (p.Pro566Ser)SNV Likely pathogenic 665916 X:100608912-100608912 X:101353924-101353924
31 BTK NM_000061.2(BTK):c.1558C>G (p.Arg520Gly)SNV Likely pathogenic 530948 rs128621201 X:100611048-100611048 X:101356060-101356060
32 BTK NM_000061.2(BTK):c.1697C>T (p.Pro566Leu)SNV Conflicting interpretations of pathogenicity 384005 rs1057521814 X:100608911-100608911 X:101353923-101353923
33 BTK NM_001287344.1(BTK):c.278_280AGA[1] (p.Lys94del)short repeat Conflicting interpretations of pathogenicity 632728 X:100629583-100629585 X:101374595-101374597
34 BTK NM_000061.2(BTK):c.141+11C>TSNV Conflicting interpretations of pathogenicity 235712 rs138411530 X:100630121-100630121 X:101375133-101375133
35 BTK NM_000061.2(BTK):c.1492C>G (p.Leu498Val)SNV Uncertain significance 530950 rs1555977807 X:100611114-100611114 X:101356126-101356126
36 BTK NM_000061.2(BTK):c.1069G>A (p.Glu357Lys)SNV Uncertain significance 461816 rs1555978130 X:100613331-100613331 X:101358343-101358343
37 BTK NM_000061.2(BTK):c.720A>C (p.Glu240Asp)SNV Uncertain significance 461818 rs141590686 X:100615612-100615612 X:101360624-101360624
38 BTK NM_000061.2(BTK):c.941A>G (p.Lys314Arg)SNV Uncertain significance 461819 rs1386621585 X:100613638-100613638 X:101358650-101358650
39 BTK NM_000061.2(BTK):c.707G>A (p.Arg236Gln)SNV Uncertain significance 461817 rs147036606 X:100615625-100615625 X:101360637-101360637
40 BTK NM_000061.2(BTK):c.1843C>T (p.Arg615Cys)SNV Uncertain significance 636806 X:100608247-100608247 X:101353259-101353259
41 BTK NM_000061.2(BTK):c.1774T>C (p.Ser592Pro)SNV Uncertain significance 662054 X:100608316-100608316 X:101353328-101353328
42 BTK NM_000061.2(BTK):c.580G>A (p.Glu194Lys)SNV Uncertain significance 574300 rs1555978779 X:100617169-100617169 X:101362181-101362181
43 BTK NM_000061.2(BTK):c.1606A>G (p.Lys536Glu)SNV Uncertain significance 650738 X:100609643-100609643 X:101354655-101354655
44 BTK NM_000061.2(BTK):c.1573C>G (p.Arg525Gly)SNV Uncertain significance 663091 X:100609676-100609676 X:101354688-101354688
45 BTK NM_000061.2(BTK):c.390C>T (p.Asn130=)SNV Uncertain significance 573075 rs150917517 X:100624987-100624987 X:101369999-101369999
46 BTK NM_000061.2(BTK):c.736G>C (p.Glu246Gln)SNV Uncertain significance 573307 rs1468544899 X:100615596-100615596 X:101360608-101360608
47 BTK NM_000061.2(BTK):c.1578C>A (p.Asn526Lys)SNV Uncertain significance 577526 rs1569291237 X:100609671-100609671 X:101354683-101354683
48 BTK NM_000061.2(BTK):c.1567-12_1567-9deldeletion Uncertain significance 566647 rs1569291244 X:100609691-100609694 X:101354703-101354706
49 BTK NM_000061.2(BTK):c.163T>C (p.Ser55Pro)SNV Uncertain significance 653309 X:100629601-100629601 X:101374613-101374613
50 BTK NM_000061.2(BTK):c.41C>T (p.Ser14Phe)SNV Uncertain significance 641792 X:100630232-100630232 X:101375244-101375244

Expression for Isolated Growth Hormone Deficiency, Type Iii, with...

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

Pathways for Isolated Growth Hormone Deficiency, Type Iii, with...

GO Terms for Isolated Growth Hormone Deficiency, Type Iii, with...

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

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 8.62 ELF4 BTK

Sources for Isolated Growth Hormone Deficiency, Type Iii, with...

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