Phenotypes for disease #02017 (Laron (Laron syndrome), OMIM:262500)

46 entries on 1 page. Showing entries 1 - 46.
Legend   How to query  

AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000059452 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 - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079741
0000059454 Laron syndrome, Laron-type dwarfism - - Isolated (sporadic) - - - - - Johan den Dunnen 00079743
0000059455 Laron syndrome - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079744
0000059456 Laron syndrome - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079745
0000059457 Laron syndrome - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079746
0000059488 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 - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079777
0000059493 Laron syndrome; physically normal, above average intelligence; no facial dysmorphism - - Unknown - - - - - Johan den Dunnen 00079782
0000059494 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. - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079783
0000059495 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 - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079784
0000059496 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 - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079785
0000059497 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. - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079786
0000059498 Laron syndrome; The patient's basal GH was 50. Her GHBP level at 18y was 2.4% of normal. - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079787
0000059499 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. - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079788
0000059500 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. - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079789
0000059501 Laron syndrome; The patient's basal GH was 53. Her GHBP level at 21y was 3.4% of normal. - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079790
0000059502 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. - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079791
0000059503 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. - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079792
0000059504 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. - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079793
0000059525 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 - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079814
0000059526 Laron syndrome - - Unknown - - - - - Johan den Dunnen 00079815
0000059527 Laron syndrome - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079816
0000059528 Laron syndrome - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079817
0000059529 Laron syndrome - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079818
0000059530 Laron syndrome - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079819
0000059531 Laron syndrome - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079820
0000059532 Laron syndrome - - Unknown - - - - - Johan den Dunnen 00079821
0000059533 Laron syndrome - - Unknown - - - - - Johan den Dunnen 00079822
0000059534 Laron syndrome - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079823
0000059536 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 - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079825
0000059537 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 - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079826
0000059540 Laron syndrome; growth hormone insensitivity - - Unknown - - - - - Johan den Dunnen 00079829
0000059541 Laron syndrome - - Unknown - - - - - Johan den Dunnen 00079830
0000059542 Laron syndrome; growth hormone insensitivity - - Unknown - - - - - Johan den Dunnen 00079831
0000059543 Laron syndrome; growth hormone insensitivity - - Unknown - - - - - Johan den Dunnen 00079832
0000059544 Laron syndrome; growth hormone insensitivity - - Unknown - - - - - Johan den Dunnen 00079833
0000059545 Laron syndrome; growth hormone insensitivity - - Unknown - - - - - Johan den Dunnen 00079834
0000059546 Laron syndrome; growth hormone insensitivity - - Unknown - - - - - Johan den Dunnen 00079835
0000059547 Laron syndrome - - Unknown - - - - - Johan den Dunnen 00079836
0000059548 Laron syndrome; growth hormone insensitivity - - Unknown - - - - - Johan den Dunnen 00079837
0000059549 Laron syndrome; growth hormone insensitivity - - Unknown - - - - - Johan den Dunnen 00079838
0000059550 Laron syndrome; growth hormone insensitivity - - Unknown - - - - - Johan den Dunnen 00079839
0000059551 Laron syndrome; growth hormone insensitivity - - Unknown - - - - - Johan den Dunnen 00079840
0000059552 Laron syndrome; growth hormone insensitivity - - Unknown - - - - - Johan den Dunnen 00079841
0000059553 Laron syndrome; growth hormone insensitivity - - Unknown - - - - - Johan den Dunnen 00079842
0000059554 Laron syndrome; growth hormone insensitivity - - Unknown - - - - - Johan den Dunnen 00079843
0000059579 Laron syndrome - - Unknown - - - - - Johan den Dunnen 00079868
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.