MCID: LRN007
MIFTS: 19

Laron Syndrome with Immunodeficiency

Categories: Blood diseases, Endocrine diseases, Gastrointestinal diseases, Immune diseases, Rare diseases
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Aliases & Classifications for Laron Syndrome with Immunodeficiency

MalaCards integrated aliases for Laron Syndrome with Immunodeficiency:

Name: Laron Syndrome with Immunodeficiency 58 5
Short Stature Due to Stat5b Deficiency 58
Laron-Like Syndrome 58

Characteristics:


Inheritance:

Autosomal recessive 58

Prevelance:

<1/1000000 (Worldwide) 58

Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare endocrine diseases
Rare immunological diseases


External Ids:

ICD10 via Orphanet 32 D82.8 E34.3
Orphanet 58 ORPHA220465

Summaries for Laron Syndrome with Immunodeficiency

Orphanet: 58 This syndrome is characterized by severe growth retardation associated with immunodeficiency.

MalaCards based summary: Laron Syndrome with Immunodeficiency, also known as short stature due to stat5b deficiency, is related to growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive and laron syndrome. An important gene associated with Laron Syndrome with Immunodeficiency is STAT5B (Signal Transducer And Activator Of Transcription 5B). Affiliated tissues include lung.

Related Diseases for Laron Syndrome with Immunodeficiency

Diseases related to Laron Syndrome with Immunodeficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive 11.4
2 laron syndrome 11.4

Symptoms & Phenotypes for Laron Syndrome with Immunodeficiency

Drugs & Therapeutics for Laron Syndrome with Immunodeficiency

Search Clinical Trials, NIH Clinical Center for Laron Syndrome with Immunodeficiency

Genetic Tests for Laron Syndrome with Immunodeficiency

Anatomical Context for Laron Syndrome with Immunodeficiency

Organs/tissues related to Laron Syndrome with Immunodeficiency:

MalaCards : Lung

Publications for Laron Syndrome with Immunodeficiency

Articles related to Laron Syndrome with Immunodeficiency:

# Title Authors PMID Year
1
STAT5B deficiency: Impacts on human growth and immunity. 5
26703237 2016
2
Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation. 5
17030597 2006
3
Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation. 5
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. 5
16464942 2006
5
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
6
Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b. 5
15827093 2005
7
Growth hormone insensitivity associated with a STAT5b mutation. 5
13679528 2003
8
Lung Isolation for Whole Lung Lavage in a Pediatric Patient With Atypical Airway Anatomy due to Short Stature: A Case Report. 62
31265442 2019

Variations for Laron Syndrome with Immunodeficiency

ClinVar genetic disease variations for Laron Syndrome with Immunodeficiency:

5 (show top 50) (show all 257)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STAT5B NM_012448.4(STAT5B):c.1888G>C (p.Ala630Pro) SNV Pathogenic
5694 rs121908501 GRCh37: 17:40362207-40362207
GRCh38: 17:42210189-42210189
2 STAT5B NM_012448.4(STAT5B):c.454C>T (p.Arg152Ter) SNV Pathogenic
5697 rs121908502 GRCh37: 17:40375496-40375496
GRCh38: 17:42223478-42223478
3 STAT5B NM_012448.4(STAT5B):c.1421A>G (p.Gln474Arg) SNV Pathogenic
492931 rs1555548680 GRCh37: 17:40368084-40368084
GRCh38: 17:42216066-42216066
4 STAT5B NM_012448.4(STAT5B):c.1433C>T (p.Ala478Val) SNV Pathogenic
517661 rs1555548678 GRCh37: 17:40368072-40368072
GRCh38: 17:42216054-42216054
5 STAT5B NM_012448.4(STAT5B):c.530A>C (p.Gln177Pro) SNV Pathogenic
522611 rs1555549674 GRCh37: 17:40375420-40375420
GRCh38: 17:42223402-42223402
6 STAT5B NM_012448.4(STAT5B):c.1009C>T (p.Gln337Ter) SNV Pathogenic
1453821 GRCh37: 17:40370329-40370329
GRCh38: 17:42218311-42218311
7 STAT5B NM_012448.4(STAT5B):c.2065G>T (p.Glu689Ter) SNV Pathogenic
1394582 GRCh37: 17:40359588-40359588
GRCh38: 17:42207570-42207570
8 STAT5B NM_012448.4(STAT5B):c.121C>T (p.Gln41Ter) SNV Pathogenic
1074067 GRCh37: 17:40384025-40384025
GRCh38: 17:42232007-42232007
9 STAT5B NM_012448.4(STAT5B):c.1718G>A (p.Trp573Ter) SNV Pathogenic
1686232 GRCh37: 17:40362478-40362478
GRCh38: 17:42210460-42210460
10 STAT5B NM_012448.4(STAT5B):c.1102del (p.Gln368fs) DEL Pathogenic
840661 rs761761205 GRCh37: 17:40370236-40370236
GRCh38: 17:42218218-42218218
11 STAT5B NM_012448.4(STAT5B):c.424_427del (p.Leu142fs) DEL Pathogenic
1408216 GRCh37: 17:40375523-40375526
GRCh38: 17:42223505-42223508
12 STAT5B NM_012448.4(STAT5B):c.1102dup (p.Gln368fs) DUP Pathogenic
579749 rs761761205 GRCh37: 17:40370235-40370236
GRCh38: 17:42218217-42218218
13 STAT5B NM_012448.4(STAT5B):c.1191dup (p.Asn398fs) DUP Pathogenic
5695 GRCh37: 17:40369460-40369461
GRCh38: 17:42217442-42217443
14 STAT5B NM_012448.4(STAT5B):c.1680+1del DEL Pathogenic
5698 GRCh37: 17:40364001-40364001
GRCh38: 17:42211983-42211983
15 STAT5B NM_012448.4(STAT5B):c.1906+1G>A SNV Likely Pathogenic
1066569 GRCh37: 17:40362188-40362188
GRCh38: 17:42210170-42210170
16 STAT5B NM_012448.4(STAT5B):c.551-5T>C SNV Conflicting Interpretations Of Pathogenicity
534583 rs200299299 GRCh37: 17:40371865-40371865
GRCh38: 17:42219847-42219847
17 STAT5B NM_012448.4(STAT5B):c.1924A>C (p.Asn642His) SNV Conflicting Interpretations Of Pathogenicity
657518 rs938448224 GRCh37: 17:40359729-40359729
GRCh38: 17:42207711-42207711
18 STAT5B NM_012448.4(STAT5B):c.334A>T (p.Ile112Leu) SNV Uncertain Significance
1721814 GRCh37: 17:40376838-40376838
GRCh38: 17:42224820-42224820
19 STAT5B NM_012448.4(STAT5B):c.2195C>A (p.Pro732Gln) SNV Uncertain Significance
1720085 GRCh37: 17:40354400-40354400
GRCh38: 17:42202382-42202382
20 STAT5B NM_012448.4(STAT5B):c.2275C>G (p.Leu759Val) SNV Uncertain Significance
1720483 GRCh37: 17:40353845-40353845
GRCh38: 17:42201827-42201827
21 STAT5B NM_012448.4(STAT5B):c.2248G>C (p.Val750Leu) SNV Uncertain Significance
1719587 GRCh37: 17:40353872-40353872
GRCh38: 17:42201854-42201854
22 STAT5B NM_012448.4(STAT5B):c.563C>A (p.Pro188Gln) SNV Uncertain Significance
1419858 GRCh37: 17:40371848-40371848
GRCh38: 17:42219830-42219830
23 STAT5B NM_012448.4(STAT5B):c.2329A>G (p.Met777Val) SNV Uncertain Significance
1438090 GRCh37: 17:40353791-40353791
GRCh38: 17:42201773-42201773
24 STAT5B NM_012448.4(STAT5B):c.1416C>T (p.Gly472=) SNV Uncertain Significance
1473055 GRCh37: 17:40368089-40368089
GRCh38: 17:42216071-42216071
25 STAT5B NM_012448.4(STAT5B):c.992C>T (p.Thr331Met) SNV Uncertain Significance
1476158 GRCh37: 17:40370346-40370346
GRCh38: 17:42218328-42218328
26 STAT5B NM_012448.4(STAT5B):c.407C>A (p.Ala136Asp) SNV Uncertain Significance
1476617 GRCh37: 17:40375543-40375543
GRCh38: 17:42223525-42223525
27 STAT5B NM_012448.4(STAT5B):c.2234A>T (p.Gln745Leu) SNV Uncertain Significance
1478460 GRCh37: 17:40354361-40354361
GRCh38: 17:42202343-42202343
28 STAT5B NM_012448.4(STAT5B):c.375T>C (p.Asn125=) SNV Uncertain Significance
1520466 GRCh37: 17:40376797-40376797
GRCh38: 17:42224779-42224779
29 STAT5B NM_012448.4(STAT5B):c.1072G>A (p.Gly358Arg) SNV Uncertain Significance
1522546 GRCh37: 17:40370266-40370266
GRCh38: 17:42218248-42218248
30 STAT5B NM_012448.4(STAT5B):c.1745A>G (p.Lys582Arg) SNV Uncertain Significance
1519016 GRCh37: 17:40362451-40362451
GRCh38: 17:42210433-42210433
31 STAT5B NM_012448.4(STAT5B):c.2303G>A (p.Arg768His) SNV Uncertain Significance
1350260 GRCh37: 17:40353817-40353817
GRCh38: 17:42201799-42201799
32 STAT5B NM_012448.4(STAT5B):c.925G>C (p.Val309Leu) SNV Uncertain Significance
836252 rs2080196988 GRCh37: 17:40370805-40370805
GRCh38: 17:42218787-42218787
33 STAT5B NM_012448.4(STAT5B):c.464C>T (p.Thr155Met) SNV Uncertain Significance
837905 rs138255473 GRCh37: 17:40375486-40375486
GRCh38: 17:42223468-42223468
34 STAT5B NM_012448.4(STAT5B):c.2215C>T (p.His739Tyr) SNV Uncertain Significance
842829 rs372734271 GRCh37: 17:40354380-40354380
GRCh38: 17:42202362-42202362
35 STAT5B NM_012448.4(STAT5B):c.2344A>C (p.Ile782Leu) SNV Uncertain Significance
844084 rs777230664 GRCh37: 17:40353776-40353776
GRCh38: 17:42201758-42201758
36 STAT5B NM_012448.4(STAT5B):c.2348C>T (p.Pro783Leu) SNV Uncertain Significance
848018 rs752309096 GRCh37: 17:40353772-40353772
GRCh38: 17:42201754-42201754
37 STAT5B NM_012448.4(STAT5B):c.1117A>G (p.Ile373Val) SNV Uncertain Significance
848352 rs2080189921 GRCh37: 17:40370221-40370221
GRCh38: 17:42218203-42218203
38 STAT5B NM_012448.4(STAT5B):c.539T>A (p.Leu180Gln) SNV Uncertain Significance
851703 rs1031852875 GRCh37: 17:40375411-40375411
GRCh38: 17:42223393-42223393
39 STAT5B NM_012448.4(STAT5B):c.1218C>A (p.His406Gln) SNV Uncertain Significance
856714 rs945497674 GRCh37: 17:40369434-40369434
GRCh38: 17:42217416-42217416
40 STAT5B NM_012448.4(STAT5B):c.395G>A (p.Ser132Asn) SNV Uncertain Significance
1359310 GRCh37: 17:40375555-40375555
GRCh38: 17:42223537-42223537
41 STAT5B NM_012448.4(STAT5B):c.1883C>G (p.Thr628Ser) SNV Uncertain Significance
1355740 GRCh37: 17:40362212-40362212
GRCh38: 17:42210194-42210194
42 STAT5B NM_012448.4(STAT5B):c.677G>A (p.Arg226His) SNV Uncertain Significance
1373680 GRCh37: 17:40371734-40371734
GRCh38: 17:42219716-42219716
43 STAT5B NM_012448.4(STAT5B):c.2077+7A>G SNV Uncertain Significance
1358911 GRCh37: 17:40359569-40359569
GRCh38: 17:42207551-42207551
44 STAT5B NM_012448.4(STAT5B):c.560G>C (p.Gly187Ala) SNV Uncertain Significance
1385589 GRCh37: 17:40371851-40371851
GRCh38: 17:42219833-42219833
45 STAT5B NM_012448.4(STAT5B):c.2129+16G>A SNV Uncertain Significance
1419827 GRCh37: 17:40354759-40354759
GRCh38: 17:42202741-42202741
46 STAT5B NM_012448.4(STAT5B):c.1009C>A (p.Gln337Lys) SNV Uncertain Significance
1401991 GRCh37: 17:40370329-40370329
GRCh38: 17:42218311-42218311
47 STAT5B NM_012448.4(STAT5B):c.1001T>C (p.Ile334Thr) SNV Uncertain Significance
1406948 GRCh37: 17:40370337-40370337
GRCh38: 17:42218319-42218319
48 STAT5B NM_012448.4(STAT5B):c.1552G>A (p.Glu518Lys) SNV Uncertain Significance
1394518 GRCh37: 17:40364130-40364130
GRCh38: 17:42212112-42212112
49 STAT5B NM_012448.4(STAT5B):c.2324G>A (p.Arg775Gln) SNV Uncertain Significance
1439450 GRCh37: 17:40353796-40353796
GRCh38: 17:42201778-42201778
50 STAT5B NM_012448.4(STAT5B):c.1071C>T (p.Gly357=) SNV Uncertain Significance
1440896 GRCh37: 17:40370267-40370267
GRCh38: 17:42218249-42218249

Expression for Laron Syndrome with Immunodeficiency

Search GEO for disease gene expression data for Laron Syndrome with Immunodeficiency.

Pathways for Laron Syndrome with Immunodeficiency

GO Terms for Laron Syndrome with Immunodeficiency

Sources for Laron Syndrome with Immunodeficiency

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