LSKB
MCID: LSS041
MIFTS: 19

Lessel-Kubisch Syndrome (LSKB)

Categories: Genetic diseases, Nephrological diseases, Skin diseases
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Aliases & Classifications for Lessel-Kubisch Syndrome

MalaCards integrated aliases for Lessel-Kubisch Syndrome:

Name: Lessel-Kubisch Syndrome 57 73 28 5 38 16
Lskb 57 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
based on report of 1 patient (last curated november 2019)


Classifications:



Summaries for Lessel-Kubisch Syndrome

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.

Related Diseases for Lessel-Kubisch Syndrome

Symptoms & Phenotypes for Lessel-Kubisch Syndrome

Human phenotypes related to Lessel-Kubisch Syndrome:

30 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 30 Very rare (1%) HP:0000822
2 short stature 30 Very rare (1%) HP:0004322
3 renal insufficiency 30 Very rare (1%) HP:0000083
4 premature graying of hair 30 Very rare (1%) HP:0002216
5 narrow mouth 30 Very rare (1%) HP:0000160
6 renal hypoplasia 30 Very rare (1%) HP:0000089
7 high pitched voice 30 Very rare (1%) HP:0001620
8 narrow nasal bridge 30 Very rare (1%) HP:0000446
9 hypogonadism 30 Very rare (1%) HP:0000135
10 sparse pubic hair 30 Very rare (1%) HP:0002225

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

Drugs & Therapeutics for Lessel-Kubisch Syndrome

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

Genetic Tests for Lessel-Kubisch Syndrome

Genetic tests related to Lessel-Kubisch Syndrome:

# Genetic test Affiliating Genes
1 Lessel-Kubisch Syndrome 28 MDM2

Anatomical Context for Lessel-Kubisch Syndrome

Organs/tissues related to Lessel-Kubisch Syndrome:

MalaCards : Skin, Kidney
ODiseA: 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. 57 5
28846075 2017
2
Comparison of crude prolamins from seven kidney beans (Phaseolus vulgaris L.) based on composition, structure and functionality. 62
33892353 2021

Variations for Lessel-Kubisch Syndrome

ClinVar genetic disease variations for Lessel-Kubisch Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MDM2 NM_002392.6(MDM2):c.1492T>C (p.Ter498Gln) SNV Pathogenic
694663 rs1592602849 GRCh37: 12:69233627-69233627
GRCh38: 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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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