GHISID1
MCID: GRW041
MIFTS: 31

Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive (GHISID1)

Categories: Blood diseases, Bone diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

MalaCards integrated aliases for Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive:

Name: Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive 57
Growth Hormone Insensitivity with Immune Dysregulation 1, Autosomal Recessive 57 29 6
Growth Hormone Insensitivity Due to Postreceptor Defect 57 73
Growth Hormone Insensitivity with Immunodeficiency 73
Laron Syndrome Due to a Post-Receptor Defect 73
Laron Syndrome Due to Postreceptor Defect 57
Short Stature Due to Stat5b Deficiency 58
Laron Syndrome with Immunodeficiency 58
Laron Syndrome Type Ii 73
Laron Type Dwarfism Ii 73
Laron-Like Syndrome 58
Ghisid1 57
Ghii 73

Characteristics:

Orphanet epidemiological data:

58
laron syndrome with immunodeficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset at birth


HPO:

31
growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

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


External Ids:

OMIM® 57 245590
OMIM Phenotypic Series 57 PS245590
MeSH 44 D046150
ICD10 via Orphanet 33 D82.8 E34.3
Orphanet 58 ORPHA220465
MedGen 41 C1855548

Summaries for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

OMIM® : 57 Autosomal recessive growth hormone insensitivity syndrome with immune dysregulation-1 (GHISID1) is a congenital disorder characterized by short stature due to insensitivity to growth hormone (GH1; 139250). Affected individuals usually have failure to thrive, delayed bone age, and delayed puberty associated with decreased serum IGF1 (147440), IGFBP3 (146732), and ALS (601489). Some patients may have dysmorphic features. Most, but not all, patients have features of immune dysregulation, including chronic pulmonary disease, interstitial pneumonitis, recurrent or severe infections, eczema, and autoimmune arthritis. The immune features are highly variable (summary by Kofoed et al., 2003; Vidarsdottir et al., 2006). See 262500 for a form of growth hormone insensitivity caused by mutation in the growth hormone receptor gene (GHR; 600946). (245590) (Updated 05-Mar-2021)

MalaCards based summary : Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive, also known as growth hormone insensitivity with immune dysregulation 1, autosomal recessive, is related to growth hormone insensitivity with immunodeficiency and laron syndrome. An important gene associated with Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive is STAT5B (Signal Transducer And Activator Of Transcription 5B). Affiliated tissues include lung, bone and skin, and related phenotypes are failure to thrive and prominent forehead

UniProtKB/Swiss-Prot : 73 Growth hormone insensitivity with immunodeficiency: A disease characterized by short stature, growth hormone deficiency in the presence of normal to elevated circulating concentrations of growth hormone, resistance to exogeneous growth hormone therapy, and recurrent infections.

Related Diseases for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

Diseases in the Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive family:

Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1
Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2

Diseases related to Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 growth hormone insensitivity with immunodeficiency 11.5
2 laron syndrome 10.3

Symptoms & Phenotypes for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

Human phenotypes related to Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 very rare (1%) HP:0001508
2 prominent forehead 31 very rare (1%) HP:0011220
3 high pitched voice 31 very rare (1%) HP:0001620
4 respiratory distress 31 very rare (1%) HP:0002098
5 severe short stature 31 very rare (1%) HP:0003510
6 concave nasal ridge 31 very rare (1%) HP:0011120
7 decreased response to growth hormone stimuation test 31 very rare (1%) HP:0000824
8 lymphocytic interstitial pneumonia 31 very rare (1%) HP:0006527

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive

Skin Nails Hair Skin:
ichthyosis
eczema

Head And Neck Face:
prominent forehead
dysmorphic features (in some patients)

Skeletal:
delayed bone age
juvenile arthritis (1 patient)

Head And Neck Nose:
saddle nose

Growth Height:
short stature (-5 to -6 sd)

Respiratory:
respiratory insufficiency
recurrent infections

Endocrine Features:
delayed puberty

Respiratory Lung:
pulmonary fibrosis
bronchiectasis
interstitial pneumonitis
chronic lung disease
lymphoid interstitial pneumonia

Voice:
high-pitched voice

Immunology:
hypergammaglobulinemia
immune dysregulation (in most patients)
immune deficiency
severe infections
hyperactivation of the immune system

Laboratory Abnormalities:
decreased igf1
decreased igf-binding protein-3
decreased igfals
increased serum prolactin (in some patients)

Clinical features from OMIM®:

245590 (Updated 05-Mar-2021)

Drugs & Therapeutics for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

Search Clinical Trials , NIH Clinical Center for Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive

Genetic Tests for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

Genetic tests related to Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Growth Hormone Insensitivity with Immune Dysregulation 1, Autosomal Recessive 29 STAT5B

Anatomical Context for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

MalaCards organs/tissues related to Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive:

40
Lung, Bone, Skin, T Cells, Pituitary

Publications for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

Articles related to Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive:

(show all 13)
# Title Authors PMID Year
1
Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation. 6 57
17030597 2006
2
Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation. 57 6
16787985 2006
3
Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b. 57 6
15827093 2005
4
Growth hormone insensitivity associated with a STAT5b mutation. 57 6
13679528 2003
5
STAT5B deficiency: Impacts on human growth and immunity. 6
26703237 2016
6
Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene. 57
17389811 2007
7
Cutting edge: Decreased accumulation and regulatory function of CD4+ CD25(high) T cells in human STAT5b deficiency. 57
16920911 2006
8
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
9
Human skin fibroblasts as a model of growth hormone (GH) action in GH receptor-positive Laron's syndrome. 57
8977385 1997
10
Laron syndrome due to a post-receptor defect: response to IGF-I treatment. 57
8300382 1993
11
Laron-type dwarfism with apparently normal high affinity serum growth hormone-binding protein. 57
1934534 1991
12
Genetic pituitary dwarfism with high serum concentation of growth hormone--a new inborn error of metabolism? 57
5916640 1966
13
Lung Isolation for Whole Lung Lavage in a Pediatric Patient With Atypical Airway Anatomy due to Short Stature: A Case Report. 61
31265442 2019

Variations for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

ClinVar genetic disease variations for Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive:

6 (show top 50) (show all 85)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STAT5B NM_012448.3(STAT5B):c.1102dup (p.Gln368fs) Duplication Pathogenic 579749 rs761761205 17:40370235-40370236 17:42218217-42218218
2 STAT5B NM_012448.3(STAT5B):c.1421A>G (p.Gln474Arg) SNV Pathogenic 492931 rs1555548680 17:40368084-40368084 17:42216066-42216066
3 STAT5B NM_012448.3(STAT5B):c.1433C>T (p.Ala478Val) SNV Pathogenic 517661 rs1555548678 17:40368072-40368072 17:42216054-42216054
4 STAT5B NM_012448.4(STAT5B):c.1102del (p.Gln368fs) Deletion Pathogenic 840661 17:40370236-40370236 17:42218218-42218218
5 STAT5B STAT5B, 1-BP DEL, EXON 13/INTRON 13 JUNCTION Deletion Pathogenic 5698
6 STAT5B NM_012448.3(STAT5B):c.454C>T (p.Arg152Ter) SNV Pathogenic 5697 rs121908502 17:40375496-40375496 17:42223478-42223478
7 STAT5B STAT5B, 1-BP INS, 1191G Insertion Pathogenic 5695
8 STAT5B NM_012448.3(STAT5B):c.1888G>C (p.Ala630Pro) SNV Pathogenic 5694 rs121908501 17:40362207-40362207 17:42210189-42210189
9 STAT5B NM_012448.3(STAT5B):c.530A>C (p.Gln177Pro) SNV Pathogenic 522611 rs1555549674 17:40375420-40375420 17:42223402-42223402
10 STAT5B NM_012448.3(STAT5B):c.551-5T>C SNV Conflicting interpretations of pathogenicity 534583 rs200299299 17:40371865-40371865 17:42219847-42219847
11 STAT5B NM_012448.3(STAT5B):c.2065G>A (p.Glu689Lys) SNV Uncertain significance 570083 rs778995803 17:40359588-40359588 17:42207570-42207570
12 STAT5B NM_012448.3(STAT5B):c.2161G>A (p.Gly721Ser) SNV Uncertain significance 572813 rs750095303 17:40354434-40354434 17:42202416-42202416
13 STAT5B NM_012448.3(STAT5B):c.2018G>A (p.Arg673Gln) SNV Uncertain significance 575338 rs776285574 17:40359635-40359635 17:42207617-42207617
14 STAT5B NM_012448.3(STAT5B):c.773G>A (p.Arg258Gln) SNV Uncertain significance 578442 rs1314726288 17:40371390-40371390 17:42219372-42219372
15 STAT5B NM_012448.3(STAT5B):c.1591G>A (p.Val531Met) SNV Uncertain significance 534575 rs142918872 17:40364091-40364091 17:42212073-42212073
16 STAT5B NM_012448.3(STAT5B):c.319C>T (p.Arg107Cys) SNV Uncertain significance 534576 rs1177773526 17:40376853-40376853 17:42224835-42224835
17 STAT5B NM_012448.3(STAT5B):c.1408G>A (p.Val470Ile) SNV Uncertain significance 534577 rs1555548681 17:40368097-40368097 17:42216079-42216079
18 STAT5B NM_012448.3(STAT5B):c.691G>A (p.Glu231Lys) SNV Uncertain significance 534578 rs917567542 17:40371472-40371472 17:42219454-42219454
19 STAT5B NM_012448.3(STAT5B):c.1596C>A (p.Phe532Leu) SNV Uncertain significance 466222 rs1555548243 17:40364086-40364086 17:42212068-42212068
20 STAT5B NM_012448.3(STAT5B):c.787G>A (p.Gly263Arg) SNV Uncertain significance 640215 rs759281260 17:40371376-40371376 17:42219358-42219358
21 STAT5B NM_012448.3(STAT5B):c.637G>T (p.Ala213Ser) SNV Uncertain significance 645112 rs377601290 17:40371774-40371774 17:42219756-42219756
22 STAT5B NM_012448.3(STAT5B):c.2005G>A (p.Val669Met) SNV Uncertain significance 645841 rs1339796170 17:40359648-40359648 17:42207630-42207630
23 STAT5B NM_012448.3(STAT5B):c.1337C>T (p.Ser446Phe) SNV Uncertain significance 645970 rs1598301960 17:40369221-40369221 17:42217203-42217203
24 STAT5B NM_012448.3(STAT5B):c.550+5G>A SNV Uncertain significance 648019 rs773246323 17:40375395-40375395 17:42223377-42223377
25 STAT5B NM_012448.3(STAT5B):c.1346G>A (p.Ser449Asn) SNV Uncertain significance 649182 rs1598301952 17:40369212-40369212 17:42217194-42217194
26 STAT5B NM_012448.3(STAT5B):c.2176A>G (p.Met726Val) SNV Uncertain significance 649575 rs1598292098 17:40354419-40354419 17:42202401-42202401
27 STAT5B NM_012448.3(STAT5B):c.1924A>C (p.Asn642His) SNV Uncertain significance 657518 rs938448224 17:40359729-40359729 17:42207711-42207711
28 STAT5B NM_012448.3(STAT5B):c.2098G>T (p.Val700Leu) SNV Uncertain significance 657964 rs1567653213 17:40354806-40354806 17:42202788-42202788
29 STAT5B NM_012448.3(STAT5B):c.440C>T (p.Thr147Met) SNV Uncertain significance 658036 rs768919211 17:40375510-40375510 17:42223492-42223492
30 STAT5B NM_012448.3(STAT5B):c.650G>A (p.Arg217His) SNV Uncertain significance 658399 rs200900246 17:40371761-40371761 17:42219743-42219743
31 STAT5B NM_012448.3(STAT5B):c.1084G>A (p.Val362Met) SNV Uncertain significance 660268 rs750053820 17:40370254-40370254 17:42218236-42218236
32 STAT5B NM_012448.3(STAT5B):c.2167G>A (p.Ala723Thr) SNV Uncertain significance 665889 rs929910807 17:40354428-40354428 17:42202410-42202410
33 STAT5B NM_012448.4(STAT5B):c.298C>T (p.Arg100Cys) SNV Uncertain significance 973672 17:40376874-40376874 17:42224856-42224856
34 STAT5B NM_012448.4(STAT5B):c.550+7C>T SNV Uncertain significance 828010 rs771507023 17:40375393-40375393 17:42223375-42223375
35 STAT5B NM_012448.4(STAT5B):c.925G>C (p.Val309Leu) SNV Uncertain significance 836252 17:40370805-40370805 17:42218787-42218787
36 STAT5B NM_012448.4(STAT5B):c.464C>T (p.Thr155Met) SNV Uncertain significance 837905 17:40375486-40375486 17:42223468-42223468
37 STAT5B NM_012448.4(STAT5B):c.2215C>T (p.His739Tyr) SNV Uncertain significance 842829 17:40354380-40354380 17:42202362-42202362
38 STAT5B NM_012448.4(STAT5B):c.2344A>C (p.Ile782Leu) SNV Uncertain significance 844084 17:40353776-40353776 17:42201758-42201758
39 STAT5B NM_012448.4(STAT5B):c.2348C>T (p.Pro783Leu) SNV Uncertain significance 848018 17:40353772-40353772 17:42201754-42201754
40 STAT5B NM_012448.4(STAT5B):c.1117A>G (p.Ile373Val) SNV Uncertain significance 848352 17:40370221-40370221 17:42218203-42218203
41 STAT5B NM_012448.4(STAT5B):c.539T>A (p.Leu180Gln) SNV Uncertain significance 851703 17:40375411-40375411 17:42223393-42223393
42 STAT5B NM_012448.4(STAT5B):c.1218C>A (p.His406Gln) SNV Uncertain significance 856714 17:40369434-40369434 17:42217416-42217416
43 STAT5B NM_012448.4(STAT5B):c.13A>T (p.Ile5Leu) SNV Uncertain significance 934489 17:40384133-40384133 17:42232115-42232115
44 STAT5B NM_012448.4(STAT5B):c.1307C>T (p.Thr436Ile) SNV Uncertain significance 936221 17:40369251-40369251 17:42217233-42217233
45 STAT5B NM_012448.4(STAT5B):c.178C>T (p.Leu60Phe) SNV Uncertain significance 936890 17:40379654-40379654 17:42227636-42227636
46 STAT5B NM_012448.4(STAT5B):c.1462T>G (p.Phe488Val) SNV Uncertain significance 937998 17:40368043-40368043 17:42216025-42216025
47 STAT5B NM_012448.4(STAT5B):c.1030A>C (p.Thr344Pro) SNV Uncertain significance 947193 17:40370308-40370308 17:42218290-42218290
48 STAT5B NM_012448.4(STAT5B):c.2260G>A (p.Asp754Asn) SNV Uncertain significance 951379 17:40353860-40353860 17:42201842-42201842
49 STAT5B NM_012448.4(STAT5B):c.1845C>G (p.Phe615Leu) SNV Uncertain significance 952309 17:40362250-40362250 17:42210232-42210232
50 STAT5B NM_012448.4(STAT5B):c.1166G>A (p.Arg389His) SNV Uncertain significance 953139 17:40370172-40370172 17:42218154-42218154

UniProtKB/Swiss-Prot genetic disease variations for Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive:

73
# Symbol AA change Variation ID SNP ID
1 STAT5B p.Ala630Pro VAR_018728 rs121908501
2 STAT5B p.Phe646Ser VAR_067368

Expression for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

Search GEO for disease gene expression data for Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive.

Pathways for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

GO Terms for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

Sources for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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