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 57 74
Fleisher Syndrome 57 74
Ighd3 57 74
Short Stature Due to Isolated Growth Hormone Deficiency with X-Linked Hypogammaglobulinemia 59
Hypogammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked 57
X-Linked Hypogammaglobulinemia and Isolated Growth Hormone Deficiency 74
Agammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked 57
Growth Hormone Deficiency, Isolated, 3, with Agammaglobulinemia 74
Growth Hormone Deficiency with Hypogammaglobulinemia, X-Linked 57
Agammaglobulinemia and Isolated Growth Hormone Deficiency 74
Isolated Growth Hormone Deficiency Type 3 74
Ighd Iii 57

Characteristics:

Orphanet epidemiological data:

59
short stature due to isolated growth hormone deficiency with x-linked hypogammaglobulinemia
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
x-linked recessive

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


HPO:

32
isolated growth hormone deficiency, type iii, with agammaglobulinemia:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

ICD10 via Orphanet 34 E23.0
UMLS via Orphanet 73 C0472813
Orphanet 59 ORPHA632
MedGen 42 C0472813

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

OMIM : 57 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 b cells, bone and t cells, and related phenotypes are encephalitis and hearing impairment

UniProtKB/Swiss-Prot : 74 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:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 encephalitis 32 HP:0002383
2 hearing impairment 32 HP:0000365
3 chronic otitis media 32 HP:0000389
4 delayed skeletal maturation 32 HP:0002750
5 short stature 32 HP:0004322
6 sinusitis 32 HP:0000246
7 recurrent urinary tract infections 32 HP:0000010
8 diarrhea 32 HP:0002014
9 conjunctivitis 32 HP:0000509
10 meningitis 32 HP:0001287
11 pneumonia 32 HP:0002090
12 recurrent bacterial infections 32 HP:0002718
13 prostatitis 32 HP:0000024
14 growth hormone deficiency 32 HP:0000824
15 panhypogammaglobulinemia 32 HP:0003139
16 septic arthritis 32 HP:0003095
17 recurrent enteroviral infections 32 HP:0002743
18 epididymitis 32 HP:0000031
19 pyoderma 32 HP:0000999
20 enteroviral hepatitis 32 HP:0001412
21 enteroviral dermatomyositis syndrome 32 HP:0003729

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
encephalitis
meningitis

Growth Height:
short stature

Abdomen Gastrointestinal:
diarrhea

Respiratory Lung:
pneumonia

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

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

Head And Neck Eyes:
conjunctivitis

Genitourinary Internal Genitalia Male:
prostatitis
epididymitis

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:

41
B Cells, Bone, T Cells, Prostate, Pituitary, Tonsil

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

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

(show all 26)
# Title Authors PMID Year
1
Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. 8 71
7849697 1994
2
An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency. 8 71
8013627 1994
3
Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency. 8
1880652 1991
4
X-linked agammaglobulinemia and isolated growth hormone deficiency. 8
1872183 1991
5
Confirmation of X-linked hypogammaglobulinemia with isolated growth hormone deficiency as a disease entity. 8
2299506 1990
6
X-linked hypogammaglobulinemia and isolated growth hormone deficiency. 8
7189577 1980
7
In-Depth Analysis of Human Neonatal and Adult IgM Antibody Repertoires. 38
29459861 2018
8
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. 38
29165569 2017
9
Dynamic gene expression response to altered gravity in human T cells. 38
28701719 2017
10
Deciphering antigen-responding antibody repertoires by using next-generation sequencing and confirming them through antibody-gene synthesis. 38
28412367 2017
11
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. 38
28401103 2017
12
The analysis of VH and VL genes repertoires of Fab library built from peripheral B cells of human rabies virus vaccinated donors. 38
24862931 2014
13
IGHV1-69 B cell chronic lymphocytic leukemia antibodies cross-react with HIV-1 and hepatitis C virus antigens as well as intestinal commensal bacteria. 38
24614505 2014
14
IGHV1-69-encoded antibodies expressed in chronic lymphocytic leukemia react with malondialdehyde-acetaldehyde adduct, an immunodominant oxidation-specific epitope. 38
23840319 2013
15
Mutational status and gene repertoire of IGHV-IGHD-IGHJ rearrangements in Serbian patients with chronic lymphocytic leukemia. 38
22560084 2012
16
Immune thrombocytopenia in patients with chronic lymphocytic leukemia is associated with stereotyped B-cell receptors. 38
22322667 2012
17
The IGHV1-69/IGHJ3 recombinations of unmutated CLL are distinct from those of normal B cells. 38
22234701 2012
18
Partial versus productive immunoglobulin heavy locus rearrangements in chronic lymphocytic leukemia: implications for B-cell receptor stereotypy. 38
21968789 2012
19
Clinical significance of productive immunoglobulin heavy chain gene rearrangements in childhood acute lymphoblastic leukemia. 38
21649543 2011
20
Individual variation in the germline Ig gene repertoire inferred from variable region gene rearrangements. 38
20495067 2010
21
IGHD3-3 fails to behave as unfavourable prognostic marker in chronic lymphocytic leukaemia. 38
20064162 2010
22
Chronic lymphocytic leukemia antibodies with a common stereotypic rearrangement recognize nonmuscle myosin heavy chain IIA. 38
18812466 2008
23
Nonstochastic pairing of immunoglobulin heavy and light chains expressed by chronic lymphocytic leukemia B cells is predicated on the heavy chain CDR3. 38
17675554 2008
24
Immunoglobulin diversity gene usage predicts unfavorable outcome in a subset of chronic lymphocytic leukemia patients. 38
18064298 2008
25
Reconsidering the human immunoglobulin heavy-chain locus: 1. An evaluation of the expressed human IGHD gene repertoire. 38
16402215 2006
26
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. 38
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 63)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BTK NM_000061.2(BTK): c.119A> G (p.Tyr40Cys) single nucleotide variant Pathogenic rs1555980875 X:100630154-100630154 X:101375166-101375166
2 BTK NM_000061.2(BTK): c.1581_1584del (p.Cys527fs) deletion Pathogenic rs1555977592 X:100609665-100609668 X:101354677-101354680
3 BTK NM_000061.2(BTK): c.863G> A (p.Arg288Gln) single nucleotide variant Pathogenic rs1555978277 X:100614312-100614312 X:101359324-101359324
4 BTK NM_000061.2(BTK): c.1750+5G> A single nucleotide variant Pathogenic rs864321659 X:100608853-100608853 X:101353865-101353865
5 BTK NM_000061.2(BTK): c.83G> A (p.Arg28His) single nucleotide variant Pathogenic rs128620185 X:100630190-100630190 X:101375202-101375202
6 BTK NM_000061.2(BTK): c.557dup (p.Pro187fs) duplication Pathogenic rs864321665 X:100617192-100617192 X:101362204-101362204
7 BTK NM_000061.2(BTK): c.1125T> G (p.Tyr375Ter) single nucleotide variant Pathogenic rs128621197 X:100612549-100612549 X:101357561-101357561
8 BTK NM_000061.2(BTK): c.1559G> A (p.Arg520Gln) single nucleotide variant Pathogenic rs128621202 X:100611047-100611047 X:101356059-101356059
9 BTK NM_000061.2(BTK): c.1625T> C (p.Leu542Pro) single nucleotide variant Pathogenic rs128621203 X:100609624-100609624 X:101354636-101354636
10 BTK NM_000061.2(BTK): c.1684C> T (p.Arg562Trp) single nucleotide variant Pathogenic rs128621204 X:100608924-100608924 X:101353936-101353936
11 BTK NM_000061.2(BTK): c.215dup (p.Asn72fs) duplication Pathogenic rs886041148 X:100629549-100629549 X:101374561-101374561
12 BTK NM_000061.2(BTK): c.278C> A (p.Ser93Ter) single nucleotide variant Pathogenic X:100626652-100626652 X:101371664-101371664
13 BTK NM_000061.2(BTK): c.1688G> A (p.Trp563Ter) single nucleotide variant Pathogenic X:100608920-100608920 X:101353932-101353932
14 BTK NM_000061.2(BTK): c.1526T> C (p.Met509Thr) single nucleotide variant Pathogenic X:100611080-100611080 X:101356092-101356092
15 BTK NM_000061.2(BTK): c.1711_1712TA[3] (p.Ser572fs) short repeat Pathogenic X:100608893-100608894 X:101353906-101353907
16 BTK NM_000061.2(BTK): c.1697C> G (p.Pro566Arg) single nucleotide variant Pathogenic X:100608911-100608911 X:101353923-101353923
17 BTK NM_000061.2(BTK): c.1763G> A (p.Trp588Ter) single nucleotide variant Pathogenic X:100608327-100608327 X:101353339-101353339
18 BTK NM_000061.2(BTK): c.1546C> T (p.Gln516Ter) single nucleotide variant Pathogenic X:100611060-100611060 X:101356072-101356072
19 BTK NM_000061.2(BTK): c.1321G> T (p.Glu441Ter) single nucleotide variant Pathogenic X:100611800-100611800 X:101356812-101356812
20 BTK NM_000061.2(BTK): c.1262G> A (p.Trp421Ter) single nucleotide variant Pathogenic X:100611859-100611859 X:101356871-101356871
21 BTK NM_000061.2(BTK): c.756G> A (p.Trp252Ter) single nucleotide variant Pathogenic X:100615576-100615576 X:101360588-101360588
22 BTK NM_000061.2(BTK): c.680del (p.Pro227fs) deletion Pathogenic X:100615652-100615652 X:101360665-101360665
23 BTK NM_000061.2(BTK): c.564del (p.Pro190fs) deletion Pathogenic X:100617185-100617185 X:101362198-101362198
24 BTK NM_000061.2(BTK): c.270del (p.Glu90fs) deletion Pathogenic X:100626660-100626660 X:101371672-101371672
25 BTK NM_000061.2(BTK): c.232C> T (p.Gln78Ter) single nucleotide variant Pathogenic X:100629532-100629532 X:101374544-101374544
26 BTK NM_000061.2(BTK): c.1751-1G> C single nucleotide variant Pathogenic X:100608340-100608340 X:101353352-101353352
27 BTK NM_000061.2(BTK): c.777-1G> A single nucleotide variant Pathogenic X:100615139-100615139 X:101360151-101360151
28 BTK NM_000061.2(BTK): c.472_475del (p.Thr158fs) deletion Pathogenic/Likely pathogenic rs193922128 X:100617594-100617597 X:101362606-101362609
29 BTK NM_000061.2(BTK): c.862C> T (p.Arg288Trp) single nucleotide variant Likely pathogenic rs128621194 X:100614313-100614313 X:101359325-101359325
30 BTK NM_000061.2(BTK): c.1558C> G (p.Arg520Gly) single nucleotide variant Likely pathogenic rs128621201 X:100611048-100611048 X:101356060-101356060
31 BTK NM_000061.2(BTK): c.1696C> T (p.Pro566Ser) single nucleotide variant Likely pathogenic X:100608912-100608912 X:101353924-101353924
32 BTK NM_000061.2(BTK): c.141+11C> T single nucleotide variant Conflicting interpretations of pathogenicity rs138411530 X:100630121-100630121 X:101375133-101375133
33 BTK NM_000061.2(BTK): c.1697C> T (p.Pro566Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs1057521814 X:100608911-100608911 X:101353923-101353923
34 BTK NM_000061.2(BTK): c.176_178AGA[1] (p.Lys60del) short repeat Conflicting interpretations of pathogenicity X:100629583-100629585 X:101374595-101374597
35 BTK NM_000061.2(BTK): c.1843C> T (p.Arg615Cys) single nucleotide variant Uncertain significance X:100608247-100608247 X:101353259-101353259
36 BTK NM_000061.2(BTK): c.1774T> C (p.Ser592Pro) single nucleotide variant Uncertain significance X:100608316-100608316 X:101353328-101353328
37 BTK NM_000061.2(BTK): c.580G> A (p.Glu194Lys) single nucleotide variant Uncertain significance X:100617169-100617169 X:101362181-101362181
38 BTK NM_000061.2(BTK): c.1578C> A (p.Asn526Lys) single nucleotide variant Uncertain significance X:100609671-100609671 X:101354683-101354683
39 BTK NM_000061.2(BTK): c.1567-12_1567-9delTTTG deletion Uncertain significance X:100609691-100609694 X:101354703-101354706
40 BTK NM_000061.2(BTK): c.390C> T (p.Asn130=) single nucleotide variant Uncertain significance X:100624987-100624987 X:101369999-101369999
41 BTK NM_000061.2(BTK): c.736G> C (p.Glu246Gln) single nucleotide variant Uncertain significance X:100615596-100615596 X:101360608-101360608
42 BTK NM_000061.2(BTK): c.1492C> G (p.Leu498Val) single nucleotide variant Uncertain significance rs1555977807 X:100611114-100611114 X:101356126-101356126
43 BTK NM_000061.2(BTK): c.1069G> A (p.Glu357Lys) single nucleotide variant Uncertain significance rs1555978130 X:100613331-100613331 X:101358343-101358343
44 BTK NM_000061.2(BTK): c.720A> C (p.Glu240Asp) single nucleotide variant Uncertain significance rs141590686 X:100615612-100615612 X:101360624-101360624
45 BTK NM_000061.2(BTK): c.941A> G (p.Lys314Arg) single nucleotide variant Uncertain significance rs1386621585 X:100613638-100613638 X:101358650-101358650
46 BTK NM_000061.2(BTK): c.707G> A (p.Arg236Gln) single nucleotide variant Uncertain significance rs147036606 X:100615625-100615625 X:101360637-101360637
47 BTK NM_000061.2(BTK): c.1606A> G (p.Lys536Glu) single nucleotide variant Uncertain significance X:100609643-100609643 X:101354655-101354655
48 BTK NM_000061.2(BTK): c.1573C> G (p.Arg525Gly) single nucleotide variant Uncertain significance X:100609676-100609676 X:101354688-101354688
49 BTK NM_000061.2(BTK): c.1513G> T (p.Val505Phe) single nucleotide variant Uncertain significance X:100611093-100611093 X:101356105-101356105
50 BTK NM_000061.2(BTK): c.1759A> C (p.Met587Leu) single nucleotide variant Uncertain significance X:100608331-100608331 X:101353343-101353343

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....