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LSKB
MCID: LSS041
MIFTS: 19
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Lessel-Kubisch Syndrome (LSKB)
Categories:
Genetic diseases, Nephrological diseases, Skin diseases
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MalaCards integrated aliases for Lessel-Kubisch Syndrome:Characteristics:Inheritance:
Autosomal recessive 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
based on report of 1 patient (last curated november 2019) Classifications: |
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OMIM®: 57 Lessel-Kubisch syndrome (LSKB) is characterized by short stature and progeroid features, including prematurely gray hair, pinched facies, and scleroderma-like skin changes. Renal failure-associated hypertension and hypogonadism have also been observed (Lessel et al., 2017). (618681) (Updated 08-Dec-2022) MalaCards based summary: Lessel-Kubisch Syndrome, is also known as lskb. An important gene associated with Lessel-Kubisch Syndrome is MDM2 (MDM2 Proto-Oncogene). Affiliated tissues include skin and kidney, and related phenotypes are hypertension and short stature UniProtKB/Swiss-Prot: 73 An autosomal recessive progeroid syndrome characterized by short stature, pinched facial features, prematurely gray hair, scleroderma- like skin changes, small kidneys and consecutive kidney failure, followed by severe arterial hypertension. |
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Human phenotypes related to Lessel-Kubisch Syndrome:30 (show all 10)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:618681 (Updated 08-Dec-2022) |
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Organs/tissues related to Lessel-Kubisch Syndrome:
MalaCards :
Skin,
Kidney
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Articles related to Lessel-Kubisch Syndrome:
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Genes related to Lessel-Kubisch Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Lessel-Kubisch Syndrome:5
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Search
GEO
for disease gene expression data for Lessel-Kubisch Syndrome.
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