LSKB
MCID: LSS041
MIFTS: 12

Lessel-Kubisch Syndrome (LSKB)

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Lessel-Kubisch Syndrome

MalaCards integrated aliases for Lessel-Kubisch Syndrome:

Name: Lessel-Kubisch Syndrome 56 6
Lskb 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 patient (last curated november 2019)


Classifications:



External Ids:

OMIM 56 618681

Summaries for Lessel-Kubisch Syndrome

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.

Related Diseases for Lessel-Kubisch Syndrome

Symptoms & Phenotypes for Lessel-Kubisch Syndrome

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Genitourinary External Genitalia Male:
hypogonadism

Head And Neck Mouth:
small mouth

Genitourinary Kidneys:
small kidneys
chronic renal failure

Head And Neck Face:
pinched facial features

Head And Neck Nose:
narrow nasal bridge

Skin Nails Hair Hair:
sparse pubic hair
prematurely gray hair

Voice:
high-pitched voice

Cardiovascular Vascular:
hypertension, severe

Skin Nails Hair Skin:
scleroderma-like skin changes

Clinical features from OMIM:

618681

Drugs & Therapeutics for Lessel-Kubisch Syndrome

Search Clinical Trials , NIH Clinical Center for Lessel-Kubisch Syndrome

Genetic Tests for Lessel-Kubisch Syndrome

Anatomical Context for Lessel-Kubisch Syndrome

MalaCards organs/tissues related to Lessel-Kubisch Syndrome:

40
Skin, Kidney

Publications for Lessel-Kubisch Syndrome

Articles related to Lessel-Kubisch Syndrome:

# Title Authors PMID Year
1
Dysfunction of the MDM2/p53 axis is linked to premature aging. 6 56
28846075 2017

Variations for Lessel-Kubisch Syndrome

ClinVar genetic disease variations for Lessel-Kubisch Syndrome:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MDM2 NM_002392.5(MDM2):c.1492T>C (p.Ter498Gln)SNV Pathogenic 694663 12:69233627-69233627 12:68839847-68839847

Expression for Lessel-Kubisch Syndrome

Search GEO for disease gene expression data for Lessel-Kubisch Syndrome.

Pathways for Lessel-Kubisch Syndrome

GO Terms for Lessel-Kubisch Syndrome

Sources for Lessel-Kubisch Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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