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LSKB
MCID: LSS041
MIFTS: 15
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Lessel-Kubisch Syndrome (LSKB)
Categories:
Genetic diseases, Skin diseases
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MalaCards integrated aliases for Lessel-Kubisch Syndrome:Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
based on report of 1 patient (last curated november 2019) Classifications: |
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OMIM :
56
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)
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. UniProtKB/Swiss-Prot : 73 Lessel-Kubisch syndrome: 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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Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618681 |
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MalaCards organs/tissues related to Lessel-Kubisch Syndrome:40
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:6
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Search
GEO
for disease gene expression data for Lessel-Kubisch Syndrome.
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