MCID: GRW003
MIFTS: 16

Growth Hormone Insensitivity with Immunodeficiency

Categories: Endocrine diseases, Immune diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Growth Hormone Insensitivity with Immunodeficiency

MalaCards integrated aliases for Growth Hormone Insensitivity with Immunodeficiency:

Name: Growth Hormone Insensitivity with Immunodeficiency 20 36 6 39
Growth Hormone Insensitivity Due to Postreceptor Defect 20
Laron Syndrome Due to Postreceptor Defect 20

Classifications:



External Ids:

KEGG 36 H00931

Summaries for Growth Hormone Insensitivity with Immunodeficiency

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 181393 Definition Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency (see these terms). Epidemiology A few cases of IGF-1 deficiency, IGF-1 resistance, STAT5B and ALS deficiencies, and more than 250 cases of Laron syndrome have been reported in the literature so far. Males and females are equally affected. Clinical description Intrauterine growth and birth size are usually subnormal. Postnatal growth is slowed. Facial dysmorphism is common and includes microcephaly, thin upper and everted lower lips and small chin. Disproportional growth, delayed motor development and delayed puberty have been described in some cases and relative obesity may occur in young adults. Intellectual development varies from normal intelligence to intellectual deficiency. Despite sharing short stature and the classical biochemical features of GH insensitivity, affected individuals present heterogeneous clinical features depending on the genetic condition. Immune deficiency has been described in some cases of STAT5b deficiency. Hearing loss has been described in some cases of IGF-1 deficiency. Etiology GHIS is due to mutations in the growth hormone receptor ( GHR ) gene (Laron syndrome) or to post receptor defects due to mutations in the IGF-1 (IGF-1 deficiency and IGF-1 resistance), IGFALS (short stature due to primary ALS deficiency) or STAT5B genes (STAT5b deficiency). Transmission is autosomal recessive. Diagnostic methods The diagnosis is based on clinical and biological findings. Hormonal tests reveal normal or high serum concentrations of GH. IGF-1 and growth hormone binding protein (GHBP) levels depend on the disease-causing mutations. IGF-1 levels are low in cases ofGHR defects, STAT5b, IGF-1 and ALS deficiencies, and high in cases of IGF-1 resistance. GHBP levels are low in cases of mutations in the extracellular domain of GHR and normal in cases of mutations in the intracellular domain of GHR or post receptor defects. IGF-BP 3 levels are low in cases of GHR, STAT5b, and ALS deficiencies, normal in cases of IGF-1 deficiency. ALS levels are low in cases of ALS deficiencies. Genetic tests should be performed to make a precise etiological diagnosis. Differential diagnosis The differential diagnosis should include secondary IGF-1 deficiency due to nutritional problems or chronic pediatric diseases. Genetic counseling Genetic counseling should be proposed to parents of an affected individual before any further pregnancy, informing them of the risks and the available diagnostic methods. Management and treatment Management aims at improving growth and, except for IGF-1 resistance, includes treatment with daily subcutaneous injections of mecasermin, a recombinant human IGF-1, and diet with adequate caloric intake. In August 2005, mecasermin was granted EC orphan drug designation. Growth hormone treatment may partially improve growth in cases of IGF-1 resistance. There is no treatment that cures or prevents the disease. Prognosis With age, osteoporosis can become apparent. Patients may develop obesity, hypercholesterolemia, insulin resistance, glucose intolerance and even type II diabetes.

MalaCards based summary : Growth Hormone Insensitivity with Immunodeficiency, also known as growth hormone insensitivity due to postreceptor defect, is related to growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive. An important gene associated with Growth Hormone Insensitivity with Immunodeficiency is STAT5B (Signal Transducer And Activator Of Transcription 5B), and among its related pathways/superpathways are ErbB signaling pathway and Chemokine signaling pathway.

KEGG : 36 Growth hormone insensitivity with immunodeficiency is a combined phenotype of growth hormone insensitivity that resembles Laron syndrome and immunodeficiency. Homozygous inactivating mutation in the STAT5b, a component of the GH signaling pathway, leads to a complete absence of protein expression.

Related Diseases for Growth Hormone Insensitivity with Immunodeficiency

Diseases related to Growth Hormone Insensitivity with Immunodeficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive 11.7

Symptoms & Phenotypes for Growth Hormone Insensitivity with Immunodeficiency

Drugs & Therapeutics for Growth Hormone Insensitivity with Immunodeficiency

Search Clinical Trials , NIH Clinical Center for Growth Hormone Insensitivity with Immunodeficiency

Genetic Tests for Growth Hormone Insensitivity with Immunodeficiency

Anatomical Context for Growth Hormone Insensitivity with Immunodeficiency

Publications for Growth Hormone Insensitivity with Immunodeficiency

Articles related to Growth Hormone Insensitivity with Immunodeficiency:

(showing 6, show less)
# Title Authors PMID Year
1
STAT5B deficiency: Impacts on human growth and immunity. 6
26703237 2016
2
Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation. 6
17030597 2006
3
Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation. 6
16787985 2006
4
A mutant signal transducer and activator of transcription 5b, associated with growth hormone insensitivity and insulin-like growth factor-I deficiency, cannot function as a signal transducer or transcription factor. 6
16464942 2006
5
Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b. 6
15827093 2005
6
Growth hormone insensitivity associated with a STAT5b mutation. 6
13679528 2003

Variations for Growth Hormone Insensitivity with Immunodeficiency

ClinVar genetic disease variations for Growth Hormone Insensitivity with Immunodeficiency:

6 (showing 112, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STAT5B NM_012448.3(STAT5B):c.1888G>C (p.Ala630Pro) SNV Pathogenic 5694 rs121908501 GRCh37: 17:40362207-40362207
GRCh38: 17:42210189-42210189
2 STAT5B STAT5B, 1-BP INS, 1191G Insertion Pathogenic 5695 GRCh37:
GRCh38:
3 STAT5B NM_012448.3(STAT5B):c.454C>T (p.Arg152Ter) SNV Pathogenic 5697 rs121908502 GRCh37: 17:40375496-40375496
GRCh38: 17:42223478-42223478
4 STAT5B STAT5B, 1-BP DEL, EXON 13/INTRON 13 JUNCTION Deletion Pathogenic 5698 GRCh37:
GRCh38:
5 STAT5B NM_012448.3(STAT5B):c.1421A>G (p.Gln474Arg) SNV Pathogenic 492931 rs1555548680 GRCh37: 17:40368084-40368084
GRCh38: 17:42216066-42216066
6 STAT5B NM_012448.3(STAT5B):c.1433C>T (p.Ala478Val) SNV Pathogenic 517661 rs1555548678 GRCh37: 17:40368072-40368072
GRCh38: 17:42216054-42216054
7 STAT5B NM_012448.3(STAT5B):c.1102dup (p.Gln368fs) Duplication Pathogenic 579749 rs761761205 GRCh37: 17:40370235-40370236
GRCh38: 17:42218217-42218218
8 STAT5B NM_012448.4(STAT5B):c.1102del (p.Gln368fs) Deletion Pathogenic 840661 GRCh37: 17:40370236-40370236
GRCh38: 17:42218218-42218218
9 STAT5B NM_012448.3(STAT5B):c.530A>C (p.Gln177Pro) SNV Pathogenic 522611 rs1555549674 GRCh37: 17:40375420-40375420
GRCh38: 17:42223402-42223402
10 STAT5B NM_012448.3(STAT5B):c.551-5T>C SNV Conflicting interpretations of pathogenicity 534583 rs200299299 GRCh37: 17:40371865-40371865
GRCh38: 17:42219847-42219847
11 STAT5B NM_012448.3(STAT5B):c.1924A>C (p.Asn642His) SNV Conflicting interpretations of pathogenicity 657518 rs938448224 GRCh37: 17:40359729-40359729
GRCh38: 17:42207711-42207711
12 STAT5B NM_012448.3(STAT5B):c.2098G>T (p.Val700Leu) SNV Uncertain significance 657964 rs1567653213 GRCh37: 17:40354806-40354806
GRCh38: 17:42202788-42202788
13 STAT5B NM_012448.3(STAT5B):c.440C>T (p.Thr147Met) SNV Uncertain significance 658036 rs768919211 GRCh37: 17:40375510-40375510
GRCh38: 17:42223492-42223492
14 STAT5B NM_012448.3(STAT5B):c.650G>A (p.Arg217His) SNV Uncertain significance 658399 rs200900246 GRCh37: 17:40371761-40371761
GRCh38: 17:42219743-42219743
15 STAT5B NM_012448.3(STAT5B):c.1084G>A (p.Val362Met) SNV Uncertain significance 660268 rs750053820 GRCh37: 17:40370254-40370254
GRCh38: 17:42218236-42218236
16 STAT5B NM_012448.3(STAT5B):c.2167G>A (p.Ala723Thr) SNV Uncertain significance 665889 rs929910807 GRCh37: 17:40354428-40354428
GRCh38: 17:42202410-42202410
17 STAT5B NM_012448.3(STAT5B):c.2065G>A (p.Glu689Lys) SNV Uncertain significance 570083 rs778995803 GRCh37: 17:40359588-40359588
GRCh38: 17:42207570-42207570
18 STAT5B NM_012448.3(STAT5B):c.2018G>A (p.Arg673Gln) SNV Uncertain significance 575338 rs776285574 GRCh37: 17:40359635-40359635
GRCh38: 17:42207617-42207617
19 STAT5B NM_012448.3(STAT5B):c.773G>A (p.Arg258Gln) SNV Uncertain significance 578442 rs1314726288 GRCh37: 17:40371390-40371390
GRCh38: 17:42219372-42219372
20 STAT5B NM_012448.3(STAT5B):c.1596C>A (p.Phe532Leu) SNV Uncertain significance 466222 rs1555548243 GRCh37: 17:40364086-40364086
GRCh38: 17:42212068-42212068
21 STAT5B NM_012448.3(STAT5B):c.1591G>A (p.Val531Met) SNV Uncertain significance 534575 rs142918872 GRCh37: 17:40364091-40364091
GRCh38: 17:42212073-42212073
22 STAT5B NM_012448.3(STAT5B):c.319C>T (p.Arg107Cys) SNV Uncertain significance 534576 rs1177773526 GRCh37: 17:40376853-40376853
GRCh38: 17:42224835-42224835
23 STAT5B NM_012448.3(STAT5B):c.1408G>A (p.Val470Ile) SNV Uncertain significance 534577 rs1555548681 GRCh37: 17:40368097-40368097
GRCh38: 17:42216079-42216079
24 STAT5B NM_012448.3(STAT5B):c.691G>A (p.Glu231Lys) SNV Uncertain significance 534578 rs917567542 GRCh37: 17:40371472-40371472
GRCh38: 17:42219454-42219454
25 STAT5B NM_012448.4(STAT5B):c.13A>T (p.Ile5Leu) SNV Uncertain significance 934489 GRCh37: 17:40384133-40384133
GRCh38: 17:42232115-42232115
26 STAT5B NM_012448.4(STAT5B):c.1307C>T (p.Thr436Ile) SNV Uncertain significance 936221 GRCh37: 17:40369251-40369251
GRCh38: 17:42217233-42217233
27 STAT5B NM_012448.4(STAT5B):c.178C>T (p.Leu60Phe) SNV Uncertain significance 936890 GRCh37: 17:40379654-40379654
GRCh38: 17:42227636-42227636
28 STAT5B NM_012448.4(STAT5B):c.1462T>G (p.Phe488Val) SNV Uncertain significance 937998 GRCh37: 17:40368043-40368043
GRCh38: 17:42216025-42216025
29 STAT5B NM_012448.3(STAT5B):c.799C>T (p.Pro267Ser) SNV Uncertain significance 636867 rs760893128 GRCh37: 17:40371364-40371364
GRCh38: 17:42219346-42219346
30 STAT5B NM_012448.4(STAT5B):c.1030A>C (p.Thr344Pro) SNV Uncertain significance 947193 GRCh37: 17:40370308-40370308
GRCh38: 17:42218290-42218290
31 STAT5B NM_012448.4(STAT5B):c.1845C>G (p.Phe615Leu) SNV Uncertain significance 952309 GRCh37: 17:40362250-40362250
GRCh38: 17:42210232-42210232
32 STAT5B NM_012448.4(STAT5B):c.1166G>A (p.Arg389His) SNV Uncertain significance 953139 GRCh37: 17:40370172-40370172
GRCh38: 17:42218154-42218154
33 STAT5B NM_012448.4(STAT5B):c.1666T>A (p.Ser556Thr) SNV Uncertain significance 955195 GRCh37: 17:40364016-40364016
GRCh38: 17:42211998-42211998
34 STAT5B NM_012448.4(STAT5B):c.2185G>A (p.Ala729Thr) SNV Uncertain significance 961422 GRCh37: 17:40354410-40354410
GRCh38: 17:42202392-42202392
35 STAT5B NM_012448.4(STAT5B):c.1619A>G (p.Asn540Ser) SNV Uncertain significance 970790 GRCh37: 17:40364063-40364063
GRCh38: 17:42212045-42212045
36 STAT5B NM_012448.4(STAT5B):c.91C>T (p.Arg31Trp) SNV Uncertain significance 975961 GRCh37: 17:40384055-40384055
GRCh38: 17:42232037-42232037
37 STAT5B NM_012448.4(STAT5B):c.2353G>A (p.Ala785Thr) SNV Uncertain significance 992531 GRCh37: 17:40353767-40353767
GRCh38: 17:42201749-42201749
38 STAT5B NM_012448.4(STAT5B):c.2293G>A (p.Val765Ile) SNV Uncertain significance 998972 GRCh37: 17:40353827-40353827
GRCh38: 17:42201809-42201809
39 STAT5B NM_012448.4(STAT5B):c.1775+3G>A SNV Uncertain significance 1000937 GRCh37: 17:40362418-40362418
GRCh38: 17:42210400-42210400
40 STAT5B NM_012448.4(STAT5B):c.354G>T (p.Arg118Ser) SNV Uncertain significance 1006767 GRCh37: 17:40376818-40376818
GRCh38: 17:42224800-42224800
41 STAT5B NM_012448.4(STAT5B):c.2272G>A (p.Asp758Asn) SNV Uncertain significance 1017370 GRCh37: 17:40353848-40353848
GRCh38: 17:42201830-42201830
42 STAT5B NM_012448.4(STAT5B):c.644T>C (p.Leu215Ser) SNV Uncertain significance 1022013 GRCh37: 17:40371767-40371767
GRCh38: 17:42219749-42219749
43 STAT5B NM_012448.4(STAT5B):c.834-9C>G SNV Uncertain significance 1024460 GRCh37: 17:40370905-40370905
GRCh38: 17:42218887-42218887
44 STAT5B NM_012448.4(STAT5B):c.2353G>A (p.Ala785Thr) SNV Uncertain significance 992531 GRCh37: 17:40353767-40353767
GRCh38: 17:42201749-42201749
45 STAT5B NM_012448.4(STAT5B):c.703A>C (p.Lys235Gln) SNV Uncertain significance 1034435 GRCh37: 17:40371460-40371460
GRCh38: 17:42219442-42219442
46 STAT5B NM_012448.4(STAT5B):c.2359T>C (p.Ser787Pro) SNV Uncertain significance 1037184 GRCh37: 17:40353761-40353761
GRCh38: 17:42201743-42201743
47 STAT5B NM_012448.4(STAT5B):c.638C>G (p.Ala213Gly) SNV Uncertain significance 1039656 GRCh37: 17:40371773-40371773
GRCh38: 17:42219755-42219755
48 STAT5B NM_012448.4(STAT5B):c.7G>A (p.Val3Met) SNV Uncertain significance 1040866 GRCh37: 17:40384139-40384139
GRCh38: 17:42232121-42232121
49 STAT5B NM_012448.4(STAT5B):c.2225T>C (p.Met742Thr) SNV Uncertain significance 1044786 GRCh37: 17:40354370-40354370
GRCh38: 17:42202352-42202352
50 STAT5B NM_012448.4(STAT5B):c.676C>T (p.Arg226Cys) SNV Uncertain significance 1046989 GRCh37: 17:40371735-40371735
GRCh38: 17:42219717-42219717
51 STAT5B NM_012448.4(STAT5B):c.963G>A (p.Thr321=) SNV Uncertain significance 1051549 GRCh37: 17:40370767-40370767
GRCh38: 17:42218749-42218749
52 STAT5B NM_012448.4(STAT5B):c.1090A>G (p.Met364Val) SNV Uncertain significance 1054011 GRCh37: 17:40370248-40370248
GRCh38: 17:42218230-42218230
53 STAT5B NM_012448.4(STAT5B):c.1133A>T (p.Gln378Leu) SNV Uncertain significance 1054318 GRCh37: 17:40370205-40370205
GRCh38: 17:42218187-42218187
54 STAT5B NM_012448.4(STAT5B):c.681+3G>A SNV Uncertain significance 1054841 GRCh37: 17:40371727-40371727
GRCh38: 17:42219709-42219709
55 STAT5B NM_012448.4(STAT5B):c.1091T>C (p.Met364Thr) SNV Uncertain significance 1055322 GRCh37: 17:40370247-40370247
GRCh38: 17:42218229-42218229
56 STAT5B NM_012448.4(STAT5B):c.1403T>C (p.Val468Ala) SNV Uncertain significance 1055752 GRCh37: 17:40368102-40368102
GRCh38: 17:42216084-42216084
57 STAT5B NM_012448.4(STAT5B):c.2064C>T (p.Cys688=) SNV Uncertain significance 1058590 GRCh37: 17:40359589-40359589
GRCh38: 17:42207571-42207571
58 STAT5B NM_012448.4(STAT5B):c.2358A>G (p.Gln786=) SNV Uncertain significance 1059610 GRCh37: 17:40353762-40353762
GRCh38: 17:42201744-42201744
59 STAT5B NM_012448.4(STAT5B):c.814C>G (p.Leu272Val) SNV Uncertain significance 1061174 GRCh37: 17:40371349-40371349
GRCh38: 17:42219331-42219331
60 STAT5B NM_012448.4(STAT5B):c.599G>A (p.Arg200Gln) SNV Uncertain significance 1063484 GRCh37: 17:40371812-40371812
GRCh38: 17:42219794-42219794
61 STAT5B NM_012448.4(STAT5B):c.2242G>A (p.Asp748Asn) SNV Uncertain significance 1063876 GRCh37: 17:40353878-40353878
GRCh38: 17:42201860-42201860
62 STAT5B NM_012448.4(STAT5B):c.721C>T (p.Arg241Trp) SNV Uncertain significance 1046567 GRCh37: 17:40371442-40371442
GRCh38: 17:42219424-42219424
63 STAT5B NM_012448.4(STAT5B):c.129-6C>T SNV Uncertain significance 1044591 GRCh37: 17:40379709-40379709
GRCh38: 17:42227691-42227691
64 STAT5B NM_012448.4(STAT5B):c.869G>C (p.Arg290Pro) SNV Uncertain significance 1025307 GRCh37: 17:40370861-40370861
GRCh38: 17:42218843-42218843
65 STAT5B NM_012448.4(STAT5B):c.298C>T (p.Arg100Cys) SNV Uncertain significance 973672 GRCh37: 17:40376874-40376874
GRCh38: 17:42224856-42224856
66 STAT5B NM_012448.4(STAT5B):c.2260G>A (p.Asp754Asn) SNV Uncertain significance 951379 GRCh37: 17:40353860-40353860
GRCh38: 17:42201842-42201842
67 STAT5B NM_012448.4(STAT5B):c.464C>T (p.Thr155Met) SNV Uncertain significance 837905 GRCh37: 17:40375486-40375486
GRCh38: 17:42223468-42223468
68 STAT5B NM_012448.3(STAT5B):c.2161G>A (p.Gly721Ser) SNV Uncertain significance 572813 rs750095303 GRCh37: 17:40354434-40354434
GRCh38: 17:42202416-42202416
69 STAT5B NM_012448.4(STAT5B):c.550+7C>T SNV Uncertain significance 828010 rs771507023 GRCh37: 17:40375393-40375393
GRCh38: 17:42223375-42223375
70 STAT5B NM_012448.4(STAT5B):c.925G>C (p.Val309Leu) SNV Uncertain significance 836252 GRCh37: 17:40370805-40370805
GRCh38: 17:42218787-42218787
71 STAT5B NM_012448.4(STAT5B):c.2215C>T (p.His739Tyr) SNV Uncertain significance 842829 GRCh37: 17:40354380-40354380
GRCh38: 17:42202362-42202362
72 STAT5B NM_012448.4(STAT5B):c.2344A>C (p.Ile782Leu) SNV Uncertain significance 844084 GRCh37: 17:40353776-40353776
GRCh38: 17:42201758-42201758
73 STAT5B NM_012448.4(STAT5B):c.2348C>T (p.Pro783Leu) SNV Uncertain significance 848018 GRCh37: 17:40353772-40353772
GRCh38: 17:42201754-42201754
74 STAT5B NM_012448.4(STAT5B):c.1117A>G (p.Ile373Val) SNV Uncertain significance 848352 GRCh37: 17:40370221-40370221
GRCh38: 17:42218203-42218203
75 STAT5B NM_012448.4(STAT5B):c.539T>A (p.Leu180Gln) SNV Uncertain significance 851703 GRCh37: 17:40375411-40375411
GRCh38: 17:42223393-42223393
76 STAT5B NM_012448.4(STAT5B):c.1218C>A (p.His406Gln) SNV Uncertain significance 856714 GRCh37: 17:40369434-40369434
GRCh38: 17:42217416-42217416
77 STAT5B NM_012448.3(STAT5B):c.787G>A (p.Gly263Arg) SNV Uncertain significance 640215 rs759281260 GRCh37: 17:40371376-40371376
GRCh38: 17:42219358-42219358
78 STAT5B NM_012448.3(STAT5B):c.637G>T (p.Ala213Ser) SNV Uncertain significance 645112 rs377601290 GRCh37: 17:40371774-40371774
GRCh38: 17:42219756-42219756
79 STAT5B NM_012448.3(STAT5B):c.2005G>A (p.Val669Met) SNV Uncertain significance 645841 rs1339796170 GRCh37: 17:40359648-40359648
GRCh38: 17:42207630-42207630
80 STAT5B NM_012448.3(STAT5B):c.1337C>T (p.Ser446Phe) SNV Uncertain significance 645970 rs1598301960 GRCh37: 17:40369221-40369221
GRCh38: 17:42217203-42217203
81 STAT5B NM_012448.3(STAT5B):c.550+5G>A SNV Uncertain significance 648019 rs773246323 GRCh37: 17:40375395-40375395
GRCh38: 17:42223377-42223377
82 STAT5B NM_012448.3(STAT5B):c.1346G>A (p.Ser449Asn) SNV Uncertain significance 649182 rs1598301952 GRCh37: 17:40369212-40369212
GRCh38: 17:42217194-42217194
83 STAT5B NM_012448.3(STAT5B):c.2176A>G (p.Met726Val) SNV Uncertain significance 649575 rs1598292098 GRCh37: 17:40354419-40354419
GRCh38: 17:42202401-42202401
84 STAT5B NM_012448.4(STAT5B):c.2271C>T (p.Phe757=) SNV Likely benign 797886 rs749104172 GRCh37: 17:40353849-40353849
GRCh38: 17:42201831-42201831
85 STAT5B NM_012448.4(STAT5B):c.840G>A (p.Glu280=) SNV Likely benign 798130 rs868520216 GRCh37: 17:40370890-40370890
GRCh38: 17:42218872-42218872
86 STAT5B NM_012448.4(STAT5B):c.1551C>T (p.Ala517=) SNV Likely benign 798523 rs373036522 GRCh37: 17:40364131-40364131
GRCh38: 17:42212113-42212113
87 STAT5B NM_012448.3(STAT5B):c.429G>C (p.Gln143His) SNV Likely benign 534581 rs148793995 GRCh37: 17:40375521-40375521
GRCh38: 17:42223503-42223503
88 STAT5B NM_012448.3(STAT5B):c.1058G>A (p.Arg353His) SNV Likely benign 499437 rs143171571 GRCh37: 17:40370280-40370280
GRCh38: 17:42218262-42218262
89 STAT5B NM_012448.4(STAT5B):c.1704C>T (p.Tyr568=) SNV Likely benign 766107 rs1598297430 GRCh37: 17:40362492-40362492
GRCh38: 17:42210474-42210474
90 STAT5B NM_012448.4(STAT5B):c.2097C>T (p.Tyr699=) SNV Likely benign 745847 rs369507540 GRCh37: 17:40354807-40354807
GRCh38: 17:42202789-42202789
91 STAT5B NM_012448.4(STAT5B):c.795C>T (p.Gly265=) SNV Likely benign 720060 rs766796346 GRCh37: 17:40371368-40371368
GRCh38: 17:42219350-42219350
92 STAT5B NM_012448.3(STAT5B):c.2292C>T (p.Asp764=) SNV Likely benign 534579 rs146467656 GRCh37: 17:40353828-40353828
GRCh38: 17:42201810-42201810
93 STAT5B NM_012448.3(STAT5B):c.798G>C (p.Gly266=) SNV Likely benign 534580 rs1555549153 GRCh37: 17:40371365-40371365
GRCh38: 17:42219347-42219347
94 STAT5B NM_012448.3(STAT5B):c.550+7C>A SNV Likely benign 534582 rs771507023 GRCh37: 17:40375393-40375393
GRCh38: 17:42223375-42223375
95 STAT5B NM_012448.3(STAT5B):c.1529C>T (p.Ala510Val) SNV Likely benign 572798 rs200200711 GRCh37: 17:40364153-40364153
GRCh38: 17:42212135-42212135
96 STAT5B NM_012448.4(STAT5B):c.1927C>T (p.Leu643=) SNV Likely benign 712910 rs150697956 GRCh37: 17:40359726-40359726
GRCh38: 17:42207708-42207708
97 STAT5B NM_012448.4(STAT5B):c.1164C>T (p.Thr388=) SNV Likely benign 716693 rs144060305 GRCh37: 17:40370174-40370174
GRCh38: 17:42218156-42218156
98 STAT5B NM_012448.4(STAT5B):c.1971C>T (p.Ala657=) SNV Likely benign 724405 rs141979661 GRCh37: 17:40359682-40359682
GRCh38: 17:42207664-42207664
99 STAT5B NM_012448.4(STAT5B):c.849C>T (p.Ala283=) SNV Likely benign 734517 rs771823136 GRCh37: 17:40370881-40370881
GRCh38: 17:42218863-42218863
100 STAT5B NM_012448.4(STAT5B):c.834-7C>T SNV Likely benign 734544 rs370072353 GRCh37: 17:40370903-40370903
GRCh38: 17:42218885-42218885
101 STAT5B NM_012448.4(STAT5B):c.1644C>T (p.Tyr548=) SNV Likely benign 740918 rs139437059 GRCh37: 17:40364038-40364038
GRCh38: 17:42212020-42212020
102 STAT5B NM_012448.4(STAT5B):c.2004C>T (p.Tyr668=) SNV Likely benign 748622 rs147503881 GRCh37: 17:40359649-40359649
GRCh38: 17:42207631-42207631
103 STAT5B NM_012448.4(STAT5B):c.1203C>T (p.Cys401=) SNV Likely benign 752552 rs200710135 GRCh37: 17:40369449-40369449
GRCh38: 17:42217431-42217431
104 STAT5B NM_012448.4(STAT5B):c.741C>T (p.Ile247=) SNV Likely benign 755046 rs1598303809 GRCh37: 17:40371422-40371422
GRCh38: 17:42219404-42219404
105 STAT5B NM_012448.3(STAT5B):c.1335A>G (p.Glu445=) SNV Benign 287764 rs111880437 GRCh37: 17:40369223-40369223
GRCh38: 17:42217205-42217205
106 STAT5B NM_012448.4(STAT5B):c.944A>C (p.Glu315Ala) SNV Benign 790882 rs572536541 GRCh37: 17:40370786-40370786
GRCh38: 17:42218768-42218768
107 STAT5B NM_012448.3(STAT5B):c.690C>T (p.Ala230=) SNV Benign 466225 rs555155085 GRCh37: 17:40371473-40371473
GRCh38: 17:42219455-42219455
108 STAT5B NM_012448.3(STAT5B):c.247C>T (p.Leu83=) SNV Benign 282341 rs146176992 GRCh37: 17:40379585-40379585
GRCh38: 17:42227567-42227567
109 STAT5B NM_012448.3(STAT5B):c.1725C>T (p.Asp575=) SNV Benign 466223 rs75130700 GRCh37: 17:40362471-40362471
GRCh38: 17:42210453-42210453
110 STAT5B NM_012448.3(STAT5B):c.993G>A (p.Thr331=) SNV Benign 199128 rs59491077 GRCh37: 17:40370345-40370345
GRCh38: 17:42218327-42218327
111 STAT5B NM_012448.4(STAT5B):c.1101C>A (p.Pro367=) SNV Benign 199127 rs61749920 GRCh37: 17:40370237-40370237
GRCh38: 17:42218219-42218219
112 STAT5B NM_012448.3(STAT5B):c.1569G>A (p.Arg523=) SNV Benign 289504 rs143172354 GRCh37: 17:40364113-40364113
GRCh38: 17:42212095-42212095

Expression for Growth Hormone Insensitivity with Immunodeficiency

Search GEO for disease gene expression data for Growth Hormone Insensitivity with Immunodeficiency.

Pathways for Growth Hormone Insensitivity with Immunodeficiency

Pathways related to Growth Hormone Insensitivity with Immunodeficiency according to KEGG:

36 (showing 3, show less)
# Name Kegg Source Accession
1 ErbB signaling pathway hsa04012
2 Chemokine signaling pathway hsa04062
3 JAK-STAT signaling pathway hsa04630

GO Terms for Growth Hormone Insensitivity with Immunodeficiency

Sources for Growth Hormone Insensitivity with Immunodeficiency

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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