Disease #02017 (Laron (Laron syndrome), OMIM:262500)

Official abbreviation Laron
Name Laron syndrome
OMIM ID 262500
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 46
Phenotype entries for this disease 46
Associated with 1 gene GHR
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

46 entries on 1 page. Showing entries 1 - 46.
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00079741 - PubMed: Godowski 1989 - M yes (United States) Jewish;Iraq - - - - Laron Laron syndrome; LTD; slow physical and mental development, clinical features of GH deficiency (with high GH levels and low IGF-1 levels); no serum GH binding protein detected; no 125I labeled GH binding detected in liver microsomal membranes GHR GHR 2 1 Johan den Dunnen
00079743 - PubMed: Godowski 1989 - M - United States - - - - - Laron Laron syndrome, Laron-type dwarfism GHR GHR 1 1 Johan den Dunnen
00079744 - PubMed: Amselem 1991 - F yes - - - - - - Laron Laron syndrome GHR GHR 2 1 Johan den Dunnen
00079745 - PubMed: Amselem 1991 - M yes - - - - - - Laron Laron syndrome GHR GHR 2 1 Johan den Dunnen
00079746 - PubMed: Amselem 1991 - - yes - - - - - - Laron Laron syndrome GHR GHR 2 1 Johan den Dunnen
00079777 - PubMed: Pantel 2003 - M no Germany - - - - - Laron Laron syndrome; Pregnancy and delivery without complications; Frontal bossing, midface hypoplasia; Obesity, acromicria; clinical features GH deficiency; first months episodes of hypoglycemia; GHBP activity undetecable, basal GH plasma baseline 42ng/ml, +Arginine, 99ng/ml; IGF1/IGFBP-3 plasma levels low and resistant to 4d rGH administration GHR GHR 2 1 Johan den Dunnen
00079782 - PubMed: Sanchez 1998 The GHBP level of the younger brother was 105pmol/L and the older brother's GHBP level was 222pmol/L. The patient, his mother and younger brother also had a heterozygous polymorphism in exon 6. M - Cuba white, Florida - - - - Laron Laron syndrome; physically normal, above average intelligence; no facial dysmorphism GHR GHR 2 1 Johan den Dunnen
00079783 - PubMed: Wojcik 1998 - M no Spain Hispanic - - - - Laron Laron syndrome; growth hormone insensitivity; Basal plasma GH level of patient: 5-10ng/ml. His GH level was not suppressed by oral glucose administration and was further augmented by insulin induced hypoglycemia and arginine infusion. GHR GHR 2 1 Johan den Dunnen
00079784 - PubMed: Wojcik 1998 - M yes Pakistan - - - - - Laron Laron syndrome; History of hypoglycemia; 30m-small size, stubby appearance, history of hypoglycemia; high random GH levels during sleep, 68ng/ml; stimulation with l-DOPA and Arginine GH levels were 19.8 and 17.5ng/ml; 6y-overnight pooled GH level 16.9ng/ml, IGF-1 0.1U/ml GHR GHR 2 1 Johan den Dunnen
00079785 - PubMed: Wojcik 1998 - F no - white - - - - Laron Laron syndrome; 23m-height 7m, Somatomedin C level 0.48U/ml; 2.8y-unstimulated GH level 42.8ng/ml, Clonidine stimulated GH level 93.8ng/ml, Somatomedin level <0.1U/ml; GH binding assay, plasma GHBP levels 1.2% and 6.1%; (1993) GHBP level 143pmol/L; 18m IGF-I therapy slipped capital femoral epiphysis GHR GHR 2 1 Johan den Dunnen
00079786 - PubMed: Wojcik 1998 - F yes Saudi Arabia - - - - - Laron Laron syndrome; bone age delayed; prominent forehead; Blue sclerae, malar hypoplasia; bone age delayed. She had borderline hypoglycemia(41mg/dl) during fasting. Her baseline GH level of 41ng/ml rose to 130ng/ml upon Clonidine stimulation. The patient had very small hands and feet. GHR GHR 2 1 Johan den Dunnen
00079787 - PubMed: Berg 1993 - F yes Spain Spain - - - - Laron Laron syndrome; The patient's basal GH was 50. Her GHBP level at 18y was 2.4% of normal. GHR GHR 2 1 Johan den Dunnen
00079788 - PubMed: Berg 1993 - M no United States Afro American - - - - Laron Laron syndrome; Basal IGF-I and GHBP activity were undetectable. There was no rise in IGF-I after 4 days of exogenous GH treatment. Random GH level of the patient was 69. GHR GHR 2 1 Johan den Dunnen
00079789 - PubMed: Berg 1993 - M no United States Afro-American - - - - Laron Laron syndrome; Basal IGF-I and GHBP activities were undetectable. There was no rise in IGF-I after 4 days of exogenous GH treatment. Random GH level of the patient was 22.8. GHR GHR 2 1 Johan den Dunnen
00079790 - PubMed: Berg 1993 - F no Spain - - - - - Laron Laron syndrome; The patient's basal GH was 53. Her GHBP level at 21y was 3.4% of normal. GHR GHR 2 1 Johan den Dunnen
00079791 - PubMed: Berg 1993 - F no South Africa - - - - - Laron Laron syndrome; At the age of 5.5y her random GH level was 34. And her GHBP activitity at 5.5y was 5.2% of normal. GHR GHR 2 1 Johan den Dunnen
00079792 - PubMed: Berg 1993 - M yes Brazil - - - - - Laron Laron syndrome; At 13 years the patient's GH level was 18. The IGF-1 level remained unchanged with human GH treatment. GHBP activity was not measured. GHR GHR 2 1 Johan den Dunnen
00079793 - PubMed: Berg 1993 - F yes Ecuador - - - - - Laron Laron syndrome; At the age of 27 months the patient's basal GH level was 160. Her IGFBP-3 activity was 58% of normal and GHBP activity was 30% of normal. rnThey had previously found that she does not carry the splice mutation that is prevalent in Ecuador. GHR GHR 2 1 Johan den Dunnen
00079814 - PubMed: Walker 1998 - F no Viet Nam - - - - - Laron Laron syndrome; Tanner stage 2(10.8y) and 4(13.8y) breast development; 15.2y-developing pubic hair, but not begun menstruating; 14.2y-pelvic ultrasound test prepubertal uterus of 3.5cm in length, ovarian volumes of 2.7 and 3.6ml GHR GHR 2 1 Johan den Dunnen
00079815 - PubMed: Sobrier 1997 - - - India - - - - - Laron Laron syndrome GHR GHR 2 1 Johan den Dunnen
00079816 - PubMed: Sobrier 1997 - - no Germany - - - - - Laron Laron syndrome GHR GHR 2 1 Johan den Dunnen
00079817 - PubMed: Sobrier 1997 - - no Turkey - - - - - Laron Laron syndrome GHR GHR 2 1 Johan den Dunnen
00079818 - PubMed: Sobrier 1997 - - no Slovenia - - - - - Laron Laron syndrome GHR GHR 2 1 Johan den Dunnen
00079819 - PubMed: Sobrier 1997 - - yes Turkey - - - - - Laron Laron syndrome GHR GHR 2 1 Johan den Dunnen
00079820 - PubMed: Sobrier 1997 - - yes Turkey - - - - - Laron Laron syndrome GHR GHR 2 1 Johan den Dunnen
00079821 - PubMed: Sobrier 1997 - - - Spain - - - - - Laron Laron syndrome GHR GHR 2 1 Johan den Dunnen
00079822 - PubMed: Sobrier 1997 - - - Algeria - - - - - Laron Laron syndrome GHR GHR 2 1 Johan den Dunnen
00079823 - PubMed: Sobrier 1997 - - yes Turkey - - - - - Laron Laron syndrome GHR GHR 2 1 Johan den Dunnen
00079825 - PubMed: Enberg 2000 - M no Sweden - - - - - Laron Laron syndrome; moderate obesity; frontal bossing, low nasal bridge; Present, small genitalia; During a Argnine tolerance test GH levels increased from 54µg/L to 94µg/L. 12h sampling revealed a mean level GH of 37µg/L. GH was administered for 10 days(0.1µg/kgBW) and after that, another 3 months, but with a dose of 0.3µg/kgBW. At 5y IGF-I treatment started increasing doses from 40 to 120µg/kgBW twice daily, fir 4 years. Increase of height from -6SDS to -3.8SDS GHR GHR 2 1 Johan den Dunnen
00079826 - PubMed: Enberg 2000 - M no Sweden - - - - - Laron Laron syndrome; Phenotype identical to case 1; frontal bossing, small midface; small genitalia, moderate obesity; Limited work up was done for this patient, because his phenotype was almost identical as his brother, case 1. GH levels were between 2.1-30µg/L during sampling for 6h. At the start of IGF-I treatment, there was one clinical episode of Hypoglycaemia. The patient was tonsillectomised after 3y of treatment GHR GHR 2 1 Johan den Dunnen
00079829 - PubMed: Savage 2006 - - - - - - - - - Laron Laron syndrome; growth hormone insensitivity GHR GHR 1 1 Johan den Dunnen
00079830 - PubMed: Savage 2006 - - - Italy - - - - - Laron Laron syndrome GHR GHR 1 1 Johan den Dunnen
00079831 - PubMed: Savage 2006 - - - Ecuador - - - - - Laron Laron syndrome; growth hormone insensitivity GHR GHR 1 1 Johan den Dunnen
00079832 - PubMed: Savage 2006 - - - - - - - - - Laron Laron syndrome; growth hormone insensitivity GHR GHR 1 1 Johan den Dunnen
00079833 - PubMed: Savage 2006 - - - China - - - - - Laron Laron syndrome; growth hormone insensitivity GHR GHR 1 1 Johan den Dunnen
00079834 - PubMed: Savage 2006 - - - - - - - - - Laron Laron syndrome; growth hormone insensitivity GHR GHR 1 1 Johan den Dunnen
00079835 - PubMed: Savage 2006 - - - Iran - - - - - Laron Laron syndrome; growth hormone insensitivity GHR GHR 1 1 Johan den Dunnen
00079836 - PubMed: Savage 2006 - - - - Mediterranean - - - - Laron Laron syndrome GHR GHR 1 1 Johan den Dunnen
00079837 - PubMed: Savage 2006 - - - Taiwan - - - - - Laron Laron syndrome; growth hormone insensitivity GHR GHR 1 1 Johan den Dunnen
00079838 - PubMed: Savage 2006 - - - - white - - - - Laron Laron syndrome; growth hormone insensitivity GHR GHR 1 1 Johan den Dunnen
00079839 - PubMed: Savage 2006 - - - Korea - - - - - Laron Laron syndrome; growth hormone insensitivity GHR GHR 1 1 Johan den Dunnen
00079840 - PubMed: Savage 2006 - - - - - - - - - Laron Laron syndrome; growth hormone insensitivity GHR GHR 1 1 Johan den Dunnen
00079841 - PubMed: Savage 2006 - - - - - - - - - Laron Laron syndrome; growth hormone insensitivity GHR GHR 1 1 Johan den Dunnen
00079842 - PubMed: Savage 2006 - - - - - - - - - Laron Laron syndrome; growth hormone insensitivity GHR GHR 1 1 Johan den Dunnen
00079843 - PubMed: Savage 2006 - - - - - - - - - Laron Laron syndrome; growth hormone insensitivity GHR GHR 1 1 Johan den Dunnen
00079868 - PubMed: Diniz 2008 - M - Brazil - - - - - Laron Laron syndrome GHR GHR 2 1 Johan den Dunnen
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