XLA-IGHD
MCID: ISL122
MIFTS: 31

Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia (XLA-IGHD)

Categories: Blood 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
Agammaglobulinemia and Isolated Hormone Deficiency 57 13
Fleisher Syndrome 57 75
Ighd3 57 75
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 75
Agammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked 57
Growth Hormone Deficiency with Hypogammaglobulinemia, X-Linked 57
Agammaglobulinemia and Isolated Growth Hormone Deficiency 75
Isolated Growth Hormone Deficiency Type 3 75
Ighd Iii 57
Xla-Ighd 75

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:



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 agammaglobulinemia and isolated hormone deficiency, is related to isolated growth hormone deficiency type iii and isolated growth hormone deficiency. 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 tonsil, and related phenotypes are encephalitis and hearing impairment

UniProtKB/Swiss-Prot : 75 X-linked hypogammaglobulinemia and isolated growth hormone deficiency: In rare cases XLA is inherited together with isolated growth hormone deficiency (IGHD).

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 11.1
2 isolated growth hormone deficiency 10.5
3 growth hormone deficiency 10.5
4 agammaglobulinemia, x-linked 10.2
5 agammaglobulinemia 10.2
6 dermatomyositis 10.1
7 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...

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

Genitourinary Kidneys:
urinary tract infections

Muscle Soft Tissue:
enteroviral dermatomyositis syndrome

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

Abdomen Liver:
enteroviral hepatitis

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

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 diarrhea 32 HP:0002014
8 conjunctivitis 32 HP:0000509
9 meningitis 32 HP:0001287
10 recurrent urinary tract infections 32 HP:0000010
11 recurrent bacterial infections 32 HP:0002718
12 pneumonia 32 HP:0002090
13 prostatitis 32 HP:0000024
14 growth hormone deficiency 32 HP:0000824
15 panhypogammaglobulinemia 32 HP:0003139
16 septic arthritis 32 HP:0003095
17 epididymitis 32 HP:0000031
18 pyoderma 32 HP:0000999
19 enteroviral hepatitis 32 HP:0001412
20 enteroviral dermatomyositis syndrome 32 HP:0003729
21 recurrent enteroviral infections 32 HP:0002743

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
Bone, B Cells, Tonsil, Prostate, T Cells

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

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

# Title Authors Year
1
X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update. ( 18180883 )
2008
2
Myofibroblastic tumor of the lower lip in a patient with X-linked hypogammaglobulinemia and isolated growth hormone deficiency: a case report. ( 17517309 )
2007
3
X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update. ( 17917049 )
2007
4
Molecular genetic analysis of X-linked hypogammaglobulinemia and isolated growth hormone deficiency. ( 7650402 )
1995
5
X-linked hypogammaglobulinemia and isolated growth hormone deficiency. ( 7189577 )
1980

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 58)
# Gene Variation Type Significance SNP ID Assembly Location
1 BTK NM_000061.2(BTK): c.1750+5G> A single nucleotide variant Pathogenic rs864321659 GRCh37 Chromosome X, 100608853: 100608853
2 BTK NM_000061.2(BTK): c.1750+5G> A single nucleotide variant Pathogenic rs864321659 GRCh38 Chromosome X, 101353865: 101353865
3 BTK NM_000061.2(BTK): c.557dupA (p.Pro187Alafs) duplication Pathogenic rs864321665 GRCh37 Chromosome X, 100617192: 100617192
4 BTK NM_000061.2(BTK): c.557dupA (p.Pro187Alafs) duplication Pathogenic rs864321665 GRCh38 Chromosome X, 101362204: 101362204
5 BTK NM_000061.2(BTK): c.1125T> G (p.Tyr375Ter) single nucleotide variant Pathogenic rs128621197 GRCh37 Chromosome X, 100612549: 100612549
6 BTK NM_000061.2(BTK): c.1125T> G (p.Tyr375Ter) single nucleotide variant Pathogenic rs128621197 GRCh38 Chromosome X, 101357561: 101357561
7 BTK NM_000061.2(BTK): c.1559G> A (p.Arg520Gln) single nucleotide variant Pathogenic rs128621202 GRCh37 Chromosome X, 100611047: 100611047
8 BTK NM_000061.2(BTK): c.1559G> A (p.Arg520Gln) single nucleotide variant Pathogenic rs128621202 GRCh38 Chromosome X, 101356059: 101356059
9 BTK NM_000061.2(BTK): c.1625T> C (p.Leu542Pro) single nucleotide variant Pathogenic rs128621203 GRCh37 Chromosome X, 100609624: 100609624
10 BTK NM_000061.2(BTK): c.1625T> C (p.Leu542Pro) single nucleotide variant Pathogenic rs128621203 GRCh38 Chromosome X, 101354636: 101354636
11 BTK NM_000061.2(BTK): c.472_475delACAG (p.Thr158Profs) deletion Pathogenic/Likely pathogenic rs193922128 GRCh37 Chromosome X, 100617594: 100617597
12 BTK NM_000061.2(BTK): c.472_475delACAG (p.Thr158Profs) deletion Pathogenic/Likely pathogenic rs193922128 GRCh38 Chromosome X, 101362606: 101362609
13 BTK NM_000061.2(BTK): c.1909-9T> C single nucleotide variant Benign/Likely benign rs782702231 GRCh37 Chromosome X, 100604953: 100604953
14 BTK NM_000061.2(BTK): c.1909-9T> C single nucleotide variant Benign/Likely benign rs782702231 GRCh38 Chromosome X, 101349965: 101349965
15 BTK NM_000061.2(BTK): c.141+11C> T single nucleotide variant Conflicting interpretations of pathogenicity rs138411530 GRCh37 Chromosome X, 100630121: 100630121
16 BTK NM_000061.2(BTK): c.141+11C> T single nucleotide variant Conflicting interpretations of pathogenicity rs138411530 GRCh38 Chromosome X, 101375133: 101375133
17 BTK NM_000061.2(BTK): c.615G> T (p.Glu205Asp) single nucleotide variant Benign/Likely benign rs35877704 GRCh37 Chromosome X, 100615717: 100615717
18 BTK NM_000061.2(BTK): c.615G> T (p.Glu205Asp) single nucleotide variant Benign/Likely benign rs35877704 GRCh38 Chromosome X, 101360729: 101360729
19 BTK NM_000061.2(BTK): c.954T> C (p.Ser318=) single nucleotide variant Benign rs5991926 GRCh38 Chromosome X, 101358637: 101358637
20 BTK NM_000061.2(BTK): c.954T> C (p.Ser318=) single nucleotide variant Benign rs5991926 GRCh37 Chromosome X, 100613625: 100613625
21 BTK NM_000061.2(BTK): c.119A> G (p.Tyr40Cys) single nucleotide variant Pathogenic GRCh37 Chromosome X, 100630154: 100630154
22 BTK NM_000061.2(BTK): c.119A> G (p.Tyr40Cys) single nucleotide variant Pathogenic GRCh38 Chromosome X, 101375166: 101375166
23 BTK NM_000061.2(BTK): c.1069G> A (p.Glu357Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 101358343: 101358343
24 BTK NM_000061.2(BTK): c.1069G> A (p.Glu357Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 100613331: 100613331
25 BTK NM_000061.2(BTK): c.720A> C (p.Glu240Asp) single nucleotide variant Uncertain significance rs141590686 GRCh38 Chromosome X, 101360624: 101360624
26 BTK NM_000061.2(BTK): c.720A> C (p.Glu240Asp) single nucleotide variant Uncertain significance rs141590686 GRCh37 Chromosome X, 100615612: 100615612
27 BTK NM_000061.2(BTK): c.941A> G (p.Lys314Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 101358650: 101358650
28 BTK NM_000061.2(BTK): c.941A> G (p.Lys314Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 100613638: 100613638
29 BTK NM_000061.2(BTK): c.707G> A (p.Arg236Gln) single nucleotide variant Uncertain significance rs147036606 GRCh38 Chromosome X, 101360637: 101360637
30 BTK NM_000061.2(BTK): c.707G> A (p.Arg236Gln) single nucleotide variant Uncertain significance rs147036606 GRCh37 Chromosome X, 100615625: 100615625
31 BTK NM_000061.2(BTK): c.1581_1584delTTTG (p.Cys527Trpfs) deletion Pathogenic GRCh37 Chromosome X, 100609665: 100609668
32 BTK NM_000061.2(BTK): c.1581_1584delTTTG (p.Cys527Trpfs) deletion Pathogenic GRCh38 Chromosome X, 101354677: 101354680
33 BTK NM_000061.2(BTK): c.863G> A (p.Arg288Gln) single nucleotide variant Pathogenic GRCh38 Chromosome X, 101359324: 101359324
34 BTK NM_000061.2(BTK): c.863G> A (p.Arg288Gln) single nucleotide variant Pathogenic GRCh37 Chromosome X, 100614312: 100614312
35 BTK NM_000061.2(BTK): c.1492C> G (p.Leu498Val) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 100611114: 100611114
36 BTK NM_000061.2(BTK): c.1492C> G (p.Leu498Val) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 101356126: 101356126
37 BTK NM_000061.2(BTK): c.531T> C (p.Pro177=) single nucleotide variant Benign rs148358153 GRCh37 Chromosome X, 100617218: 100617218
38 BTK NM_000061.2(BTK): c.531T> C (p.Pro177=) single nucleotide variant Benign rs148358153 GRCh38 Chromosome X, 101362230: 101362230
39 BTK NM_000061.2(BTK): c.240+7A> C single nucleotide variant Benign rs782299012 GRCh37 Chromosome X, 100629517: 100629517
40 BTK NM_000061.2(BTK): c.240+7A> C single nucleotide variant Benign rs782299012 GRCh38 Chromosome X, 101374529: 101374529
41 BTK NM_000061.2(BTK): c.1558C> G (p.Arg520Gly) single nucleotide variant Likely pathogenic rs128621201 GRCh38 Chromosome X, 101356060: 101356060
42 BTK NM_000061.2(BTK): c.1558C> G (p.Arg520Gly) single nucleotide variant Likely pathogenic rs128621201 GRCh37 Chromosome X, 100611048: 100611048
43 BTK NM_000061.2(BTK): c.390C> T (p.Asn130=) single nucleotide variant Uncertain significance rs150917517 GRCh37 Chromosome X, 100624987: 100624987
44 BTK NM_000061.2(BTK): c.390C> T (p.Asn130=) single nucleotide variant Uncertain significance rs150917517 GRCh38 Chromosome X, 101369999: 101369999
45 BTK NM_000061.2(BTK): c.736G> C (p.Glu246Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 101360608: 101360608
46 BTK NM_000061.2(BTK): c.736G> C (p.Glu246Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 100615596: 100615596
47 BTK NM_000061.2(BTK): c.278C> A (p.Ser93Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 101371664: 101371664
48 BTK NM_000061.2(BTK): c.278C> A (p.Ser93Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 100626652: 100626652
49 BTK NM_000061.2(BTK): c.1688G> A (p.Trp563Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 100608920: 100608920
50 BTK NM_000061.2(BTK): c.1688G> A (p.Trp563Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 101353932: 101353932

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 BTK ELF4

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

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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