Disease #01890 (growth hormone insensitivity with immunodeficiency, OMIM:245590)

Official abbreviation -
Name growth hormone insensitivity with immunodeficiency
OMIM ID 245590
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 8
Phenotype entries for this disease 8
Associated with 1 gene STAT5B
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2015-12-08 23:50:05 +01:00 (CET)


Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00079753 - PubMed: Kofoed 2003 2-generation family ({FILE13679528fam.jpg:pedigree}) F yes Argentina - - - - - growth hormone insensitivity with immunodeficiency severe postnatal growth failure; developmental delay; severe pulmonary infections, incl. lymphoid interstitial pneumonia (LIP) at 7y and 10y; lymphopenia; growth hormone insensitivity with immunodeficiency; chronic Infection STAT5B STAT5B 1 1 Johan den Dunnen
00079754 - PubMed: Hwa 2005 - F yes Turkey - - - - - growth hormone insensitivity with immunodeficiency growth hormone insensitivity with immunodeficiency, severe growth failure, history of pruritic skin lesions,recurrent pulmonary infections STAT5B STAT5B 1 1 Johan den Dunnen
00079755 - PubMed: Bernasconi 2006 - F no Argentina - - - - - growth hormone insensitivity with immunodeficiency growth hormone insensitivity with immunodeficiency, generalized excema, recurrent severe infections of the skin and respiratory tract that required episodes of hospitalization, recurrent episodes of pneumonia, chronic diarrhea, prolonged varicella complicated with bacterial infection, recurrent herpes zoster keratitis and uveitis of the left eye with progressive loss of visual activity, chronic lung disease with signs of chronic hypoxemia, congenital GH deficiency; persistently low growth rate and severe growth failure, prominent forehead, saddle nose, and high-pitched voice STAT5B STAT5B 1 1 Johan den Dunnen
00079756 - PubMed: Vidarsdottir 2006 - M ? Netherlands Antilles - - - - - growth hormone insensitivity with immunodeficiency growth hormone insensitivity with immunodeficiency, short stature, congenital ichthyosis, hemorrhagic chickenpox; no signs of immunodeficiency STAT5B STAT5B 1 1 Johan den Dunnen
00079757 - PubMed: Hwa 2007 sibling of STAT5B_000006 F yes Kuwait - - - - - growth hormone insensitivity with immunodeficiency growth hormone insensitivity, immunodeficiency? STAT5B STAT5B 1 1 Johan den Dunnen
00079758 - PubMed: Hwa 2007 2-generation family, 2 affected, sister of STAT5B_000005 F yes Kuwait - - - - - growth hormone insensitivity with immunodeficiency growth hormone insensitivity with immunodeficiency, JIA STAT5B STAT5B 1 2 Johan den Dunnen
00081802 - PubMed: Scaglia 2012 adopted F - Argentina - - - - - growth hormone insensitivity with immunodeficiency see paper; ... STAT5B STAT5B 1 1 Johan den Dunnen
00269862 Fam PubMed: Pugliese-Pires 2010 2-generation family, 2 affected brothers unaffected heterozygous carrier parents M - Brazil - - - - - growth hormone insensitivity with immunodeficiency see paper; ..., growth hormone insensitivity, hyperprolactinemia, immune dysfunction STAT5B STAT5B 1 2 Johan den Dunnen
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