MCID: ISL115
MIFTS: 41

Isolated Growth Hormone Deficiency, Type Iii

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Blood 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 57
Fleisher Syndrome 57 12 53 75
Growth Hormone Deficiency with Hypogammaglobulinemia 57 12 53
Isolated Growth Hormone Deficiency Type Iii 12 59 15
Ighd Iii 57 12 53
Ighd3 57 53 75
Hypogammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked 57 53
X-Linked Hypogammaglobulinemia and Isolated Growth Hormone Deficiency 12 75
Agammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked 57 53
Congenital Isolated Growth Hormone Deficiency Type Iii 12 59
Agammaglobulinemia and Isolated Hormone Deficiency 57 13
X-Linked Isolated Growth Hormone Deficiency 12 59
Congenital Isolated Gh Deficiency Type Iii 12 59
Isolated Growth Hormone Deficiency Type 3 53 75
Congenital Ighd Type Iii 12 59
X-Linked Ighd 12 59
Short Stature Due to Isolated Growth Hormone Deficiency with X-Linked Hypogammaglobulinemia 59
X-Linked Agammaglobulinemia and Isolated Growth Hormone Deficiency 12
X-Linked Agammaglobulinemia with Growth Hormone Deficiency 73
Agammaglobulinemia and Isolated Growth Hormone Deficiency 75
Growth Hormone Deficiency, Isolated, Type Iii ) 40
Xla-Ighd 75

Characteristics:

Orphanet epidemiological data:

59
isolated growth hormone deficiency type iii
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;
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:
Inheritance x-linked recessive inheritance


Classifications:



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 fleisher syndrome, is related to isolated growth hormone deficiency and pituitary hypoplasia, and has symptoms including diarrhea An important gene associated with Isolated Growth Hormone Deficiency, Type Iii is BTK (Bruton Tyrosine Kinase), and among its related pathways/superpathways are Lysine degradation and Deactivation of the beta-catenin transactivating complex. Affiliated tissues include bone, prostate and t cells, 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).

Description from OMIM: 307200

Related Diseases for Isolated Growth Hormone Deficiency, Type Iii

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

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

GenitourinaryInternal GenitaliaMale:
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:

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

UMLS symptoms related to Isolated Growth Hormone Deficiency, Type Iii:


diarrhea

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.26 HESX1 KMT2D PHEX SOX3
2 growth/size/body region MP:0005378 9.1 BTK HESX1 KMT2B KMT2D PHEX SOX3

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:

41
Bone, Prostate, T Cells, Tonsil

Publications for Isolated Growth Hormone Deficiency, Type Iii

Articles related to Isolated Growth Hormone Deficiency, Type Iii:

# 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

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

6
(show all 32)
# 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.1125T> G (p.Tyr375Ter) single nucleotide variant Pathogenic rs128621197 GRCh37 Chromosome X, 100612549: 100612549
4 BTK NM_000061.2(BTK): c.1125T> G (p.Tyr375Ter) single nucleotide variant Pathogenic rs128621197 GRCh38 Chromosome X, 101357561: 101357561
5 BTK NM_000061.2(BTK): c.1559G> A (p.Arg520Gln) single nucleotide variant Pathogenic rs128621202 GRCh37 Chromosome X, 100611047: 100611047
6 BTK NM_000061.2(BTK): c.1559G> A (p.Arg520Gln) single nucleotide variant Pathogenic rs128621202 GRCh38 Chromosome X, 101356059: 101356059
7 BTK NM_000061.2(BTK): c.1625T> C (p.Leu542Pro) single nucleotide variant Pathogenic rs128621203 GRCh37 Chromosome X, 100609624: 100609624
8 BTK NM_000061.2(BTK): c.1625T> C (p.Leu542Pro) single nucleotide variant Pathogenic rs128621203 GRCh38 Chromosome X, 101354636: 101354636
9 BTK NM_000061.2(BTK): c.1909-9T> C single nucleotide variant Benign/Likely benign rs782702231 GRCh37 Chromosome X, 100604953: 100604953
10 BTK NM_000061.2(BTK): c.1909-9T> C single nucleotide variant Benign/Likely benign rs782702231 GRCh38 Chromosome X, 101349965: 101349965
11 BTK NM_000061.2(BTK): c.615G> T (p.Glu205Asp) single nucleotide variant Benign/Likely benign rs35877704 GRCh37 Chromosome X, 100615717: 100615717
12 BTK NM_000061.2(BTK): c.615G> T (p.Glu205Asp) single nucleotide variant Benign/Likely benign rs35877704 GRCh38 Chromosome X, 101360729: 101360729
13 BTK NM_000061.2(BTK): c.954T> C (p.Ser318=) single nucleotide variant Benign rs5991926 GRCh38 Chromosome X, 101358637: 101358637
14 BTK NM_000061.2(BTK): c.954T> C (p.Ser318=) single nucleotide variant Benign rs5991926 GRCh37 Chromosome X, 100613625: 100613625
15 BTK NM_000061.2(BTK): c.1069G> A (p.Glu357Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 101358343: 101358343
16 BTK NM_000061.2(BTK): c.1069G> A (p.Glu357Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 100613331: 100613331
17 BTK NM_000061.2(BTK): c.720A> C (p.Glu240Asp) single nucleotide variant Uncertain significance rs141590686 GRCh38 Chromosome X, 101360624: 101360624
18 BTK NM_000061.2(BTK): c.720A> C (p.Glu240Asp) single nucleotide variant Uncertain significance rs141590686 GRCh37 Chromosome X, 100615612: 100615612
19 BTK NM_000061.2(BTK): c.941A> G (p.Lys314Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 101358650: 101358650
20 BTK NM_000061.2(BTK): c.941A> G (p.Lys314Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 100613638: 100613638
21 BTK NM_000061.2(BTK): c.707G> A (p.Arg236Gln) single nucleotide variant Uncertain significance rs147036606 GRCh38 Chromosome X, 101360637: 101360637
22 BTK NM_000061.2(BTK): c.707G> A (p.Arg236Gln) single nucleotide variant Uncertain significance rs147036606 GRCh37 Chromosome X, 100615625: 100615625
23 BTK NM_000061.2(BTK): c.1581_1584delTTTG (p.Cys527Trpfs) deletion Pathogenic GRCh37 Chromosome X, 100609665: 100609668
24 BTK NM_000061.2(BTK): c.1581_1584delTTTG (p.Cys527Trpfs) deletion Pathogenic GRCh38 Chromosome X, 101354677: 101354680
25 BTK NM_000061.2(BTK): c.1492C> G (p.Leu498Val) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 100611114: 100611114
26 BTK NM_000061.2(BTK): c.1492C> G (p.Leu498Val) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 101356126: 101356126
27 BTK NM_000061.2(BTK): c.531T> C (p.Pro177=) single nucleotide variant Benign rs148358153 GRCh37 Chromosome X, 100617218: 100617218
28 BTK NM_000061.2(BTK): c.531T> C (p.Pro177=) single nucleotide variant Benign rs148358153 GRCh38 Chromosome X, 101362230: 101362230
29 BTK NM_000061.2(BTK): c.240+7A> C single nucleotide variant Benign rs782299012 GRCh37 Chromosome X, 100629517: 100629517
30 BTK NM_000061.2(BTK): c.240+7A> C single nucleotide variant Benign rs782299012 GRCh38 Chromosome X, 101374529: 101374529
31 BTK NM_000061.2(BTK): c.1558C> G (p.Arg520Gly) single nucleotide variant Uncertain significance rs128621201 GRCh38 Chromosome X, 101356060: 101356060
32 BTK NM_000061.2(BTK): c.1558C> G (p.Arg520Gly) single nucleotide variant Uncertain significance rs128621201 GRCh37 Chromosome X, 100611048: 100611048

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 10.73 KMT2B KMT2D
2 10.26 KMT2D SOX3

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 nucleus GO:0005634 9.5 BTK ELF4 ESX1 HESX1 KMT2B KMT2D
2 histone methyltransferase complex GO:0035097 8.62 KMT2B KMT2D

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

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.5 BTK ELF4 ESX1 HESX1 KMT2B KMT2D
2 regulation of megakaryocyte differentiation GO:0045652 9.32 KMT2B KMT2D
3 pituitary gland development GO:0021983 9.26 HESX1 SOX3
4 transcription, DNA-templated GO:0006351 9.17 BTK ELF4 ESX1 HESX1 KMT2B KMT2D
5 histone H3-K4 methylation GO:0051568 9.16 KMT2B KMT2D

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.63 ELF4 ESX1 HESX1 KMT2B KMT2D SOX3
2 histone-lysine N-methyltransferase activity GO:0018024 9.26 KMT2B KMT2D
3 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.1 ELF4 ESX1 HESX1 KMT2B KMT2D SOX3
4 histone methyltransferase activity (H3-K4 specific) GO:0042800 8.96 KMT2B KMT2D

Sources for Isolated Growth Hormone Deficiency, Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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