KPLBS
MCID: KPP002
MIFTS: 30

Keppen-Lubinsky Syndrome (KPLBS)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Keppen-Lubinsky Syndrome

MalaCards integrated aliases for Keppen-Lubinsky Syndrome:

Name: Keppen-Lubinsky Syndrome 57 58 72 36 29 6 39 70
Kplbs 57 72
Generalized Lipodystrophy-Progeroid Features-Severe Intellectual Disability Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
keppen-lubinsky syndrome
Inheritance: Autosomal dominant,Not applicable;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
four unrelated boys have been reported (last curated march 2015)


HPO:

31
keppen-lubinsky syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases
Rare endocrine diseases


Summaries for Keppen-Lubinsky Syndrome

OMIM® : 57 Keppen-Lubinsky syndrome is a very rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth (summary by Masotti et al., 2015). (614098) (Updated 05-Apr-2021)

MalaCards based summary : Keppen-Lubinsky Syndrome, also known as kplbs, is related to hypogonadism-cataract syndrome and down syndrome. An important gene associated with Keppen-Lubinsky Syndrome is KCNJ6 (Potassium Inwardly Rectifying Channel Subfamily J Member 6). Affiliated tissues include eye and cortex, and related phenotypes are progeroid facial appearance and congenital generalized lipodystrophy

KEGG : 36 Keppen-Lubinsky syndrome (KPLBS) is a rare condition characterized by severely reduced facial adipose tissue and thin facial skin combined with severe developmental delay and hypertonia. KPLBS is caused by mutations in KCNJ6, which encodes an inwardly rectifying potassium channel.

UniProtKB/Swiss-Prot : 72 Keppen-Lubinsky syndrome: A rare disease characterized by severe developmental delay, intellectual disability, severe generalized lipodystrophy, dysmorphic features including microcephaly, large prominent eyes, narrow nasal bridge, tented upper lip, high palate, open mouth, tightly adherent skin, and aged appearance.

Wikipedia : 73 Keppen-Lubinsky syndrome is an extremely rare congenital disorder. The minimal clinical criteria for the... more...

Related Diseases for Keppen-Lubinsky Syndrome

Diseases related to Keppen-Lubinsky Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypogonadism-cataract syndrome 10.4
2 down syndrome 10.2
3 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.2
4 alacrima, achalasia, and mental retardation syndrome 10.2
5 microcephaly 10.2

Graphical network of the top 20 diseases related to Keppen-Lubinsky Syndrome:



Diseases related to Keppen-Lubinsky Syndrome

Symptoms & Phenotypes for Keppen-Lubinsky Syndrome

Human phenotypes related to Keppen-Lubinsky Syndrome:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progeroid facial appearance 58 31 obligate (100%) Obligate (100%) HP:0005328
2 congenital generalized lipodystrophy 58 31 obligate (100%) Obligate (100%) HP:0009059
3 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
4 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
5 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
6 open mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000194
7 short philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000322
8 premature skin wrinkling 58 31 hallmark (90%) Very frequent (99-80%) HP:0100678
9 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
10 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
11 abnormality of eye movement 58 31 frequent (33%) Frequent (79-30%) HP:0000496
12 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
13 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
14 gingival overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0000212
15 flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0001371
16 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
17 mask-like facies 58 31 frequent (33%) Frequent (79-30%) HP:0000298
18 dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002094
19 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
20 recurrent pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0006532
21 severe global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011344
22 narrow nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000446
23 decreased testicular size 58 31 frequent (33%) Frequent (79-30%) HP:0008734
24 tented upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0010804
25 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
26 spastic tetraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0001285
27 intellectual disability, profound 58 31 frequent (33%) Frequent (79-30%) HP:0002187
28 upper airway obstruction 58 31 frequent (33%) Frequent (79-30%) HP:0002781
29 prominent nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0005274
30 shallow orbits 58 31 frequent (33%) Frequent (79-30%) HP:0000586
31 abnormality of the forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000290
32 loss of facial adipose tissue 58 31 frequent (33%) Frequent (79-30%) HP:0000292
33 abnormally large globe 58 31 frequent (33%) Frequent (79-30%) HP:0001090
34 opisthotonus 58 31 frequent (33%) Frequent (79-30%) HP:0002179
35 narrow naris 58 31 frequent (33%) Frequent (79-30%) HP:0009933
36 dimple chin 31 frequent (33%) HP:0010751
37 increased susceptibility to fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002659
38 seizure 31 occasional (7.5%) HP:0001250
39 febrile seizure (within the age range of 3 months to 6 years) 31 occasional (7.5%) HP:0002373
40 proptosis 58 31 Frequent (79-30%) HP:0000520
41 intellectual disability 58 Very frequent (99-80%)
42 seizures 58 Occasional (29-5%)
43 hypertonia 58 Frequent (79-30%)
44 intellectual disability, severe 31 HP:0010864
45 high, narrow palate 31 HP:0002705
46 lipodystrophy 58 Frequent (79-30%)
47 chin dimple 58 Frequent (79-30%)
48 generalized lipodystrophy 31 HP:0009064
49 absence of subcutaneous fat 31 HP:0007485

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
hypertonia
spastic tetraparesis
mental retardation, severe
seizures (in some patients)

Skeletal Spine:
scoliosis

Head And Neck Face:
micrognathia
short philtrum
masked facies
aged facial appearance
tightly adherent facial skin

Muscle Soft Tissue:
generalized lipodystrophy

Head And Neck Nose:
hypoplastic alae nasi
small, pinched nose

Head And Neck Eyes:
large prominent eyes

Growth Other:
failure to thrive
poor postnatal growth
normal growth parameters at birth

Head And Neck Head:
microcephaly
small head

Head And Neck Mouth:
open mouth
high arched palate
tented upper lip

Skin Nails Hair Skin:
absence of subcutaneous fat
wrinkly appearance

Skeletal:
joint contractures

Clinical features from OMIM®:

614098 (Updated 05-Apr-2021)

Drugs & Therapeutics for Keppen-Lubinsky Syndrome

Search Clinical Trials , NIH Clinical Center for Keppen-Lubinsky Syndrome

Genetic Tests for Keppen-Lubinsky Syndrome

Genetic tests related to Keppen-Lubinsky Syndrome:

# Genetic test Affiliating Genes
1 Keppen-Lubinsky Syndrome 29 KCNJ6

Anatomical Context for Keppen-Lubinsky Syndrome

MalaCards organs/tissues related to Keppen-Lubinsky Syndrome:

40
Eye, Cortex

Publications for Keppen-Lubinsky Syndrome

Articles related to Keppen-Lubinsky Syndrome:

# Title Authors PMID Year
1
Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6. 61 57 6
25620207 2015
2
Keppen-Lubinsky syndrome: Expanding the phenotype. 57 6 61
19610118 2009
3
New syndrome with generalized lipodystrophy and a distinctive facial appearance: confirmation of Keppen-Lubinski syndrome? 6 57
12567423 2003
4
A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation. 57
7550338 1995
5
Sequence of developmental abnormalities leading to granule cell deficit in cerebellar cortex of weaver mutant mice. 57
4128371 1973
6
"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes. 61
32560786 2020
7
Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype. 61
29852244 2018

Variations for Keppen-Lubinsky Syndrome

ClinVar genetic disease variations for Keppen-Lubinsky Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNJ6 NM_002240.5(KCNJ6):c.452_454CCA[1] (p.Thr152del) Microsatellite Pathogenic 189254 rs786204794 GRCh37: 21:39087003-39087005
GRCh38: 21:37714700-37714702
2 KCNJ6 NM_002240.5(KCNJ6):c.460G>A (p.Gly154Ser) SNV Pathogenic 189255 rs786204795 GRCh37: 21:39087000-39087000
GRCh38: 21:37714697-37714697
3 KCNJ6 NM_002240.5(KCNJ6):c.512T>G (p.Leu171Arg) SNV Likely pathogenic 431712 rs1556023562 GRCh37: 21:39086948-39086948
GRCh38: 21:37714645-37714645
4 KCNJ6 NM_002240.5(KCNJ6):c.8A>T (p.Lys3Met) SNV not provided 585052 rs748430470 GRCh37: 21:39212977-39212977
GRCh38: 21:37840675-37840675

UniProtKB/Swiss-Prot genetic disease variations for Keppen-Lubinsky Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 KCNJ6 p.Gly154Ser VAR_073431 rs786204795

Expression for Keppen-Lubinsky Syndrome

Search GEO for disease gene expression data for Keppen-Lubinsky Syndrome.

Pathways for Keppen-Lubinsky Syndrome

GO Terms for Keppen-Lubinsky Syndrome

Sources for Keppen-Lubinsky Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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