MCID: KPP002
MIFTS: 28

Keppen-Lubinsky Syndrome

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

Aliases & Classifications for Keppen-Lubinsky Syndrome

MalaCards integrated aliases for Keppen-Lubinsky Syndrome:

Name: Keppen-Lubinsky Syndrome 57 59 75 29 6 40 73
Kplbs 57 75
Generalized Lipodystrophy-Progeroid Features-Severe Intellectual Disability Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
keppen-lubinsky syndrome
Inheritance: Autosomal dominant,Not applicable;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
keppen-lubinsky syndrome:
Inheritance autosomal dominant inheritance


Classifications:



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)

MalaCards based summary : Keppen-Lubinsky Syndrome, also known as kplbs, is related to lubinsky syndrome. An important gene associated with Keppen-Lubinsky Syndrome is KCNJ6 (Potassium Voltage-Gated Channel Subfamily J Member 6). Affiliated tissues include eye, skin and bone, and related phenotypes are high palate and abnormality of eye movement

UniProtKB/Swiss-Prot : 75 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 : 76 Keppen–Lubinsky syndrome (KPLBS) is an extremely rare congenital disorder.The minimal clinical criteria... 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 lubinsky syndrome 28.0 KCNJ6 KCNJ6-AS1 LOC107985507

Symptoms & Phenotypes for Keppen-Lubinsky Syndrome

Symptoms via clinical synopsis from OMIM:

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

Head And Neck Head:
microcephaly
small head

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

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

Muscle Soft Tissue:
generalized lipodystrophy

Skeletal:
joint contractures

Skeletal Spine:
scoliosis skn, hair, nails :


Clinical features from OMIM:

614098

Human phenotypes related to Keppen-Lubinsky Syndrome:

59 32 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
2 abnormality of eye movement 59 32 frequent (33%) Frequent (79-30%) HP:0000496
3 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
5 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
6 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
7 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
8 gingival overgrowth 59 32 frequent (33%) Frequent (79-30%) HP:0000212
9 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
10 flexion contracture 59 32 frequent (33%) Frequent (79-30%) HP:0001371
11 dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0002094
12 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
13 severe global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0011344
14 postnatal growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0008897
15 mask-like facies 59 32 frequent (33%) Frequent (79-30%) HP:0000298
16 underdeveloped nasal alae 59 32 frequent (33%) Frequent (79-30%) HP:0000430
17 short philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000322
18 decreased testicular size 59 32 frequent (33%) Frequent (79-30%) HP:0008734
19 open mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000194
20 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
21 recurrent pneumonia 59 32 frequent (33%) Frequent (79-30%) HP:0006532
22 intellectual disability, profound 59 32 frequent (33%) Frequent (79-30%) HP:0002187
23 proptosis 59 32 Frequent (79-30%) HP:0000520
24 narrow nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000446
25 tented upper lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0010804
26 spastic tetraparesis 59 32 frequent (33%) Frequent (79-30%) HP:0001285
27 upper airway obstruction 59 32 frequent (33%) Frequent (79-30%) HP:0002781
28 prominent nasal tip 59 32 frequent (33%) Frequent (79-30%) HP:0005274
29 opisthotonus 59 32 frequent (33%) Frequent (79-30%) HP:0002179
30 increased susceptibility to fractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002659
31 narrow naris 59 32 frequent (33%) Frequent (79-30%) HP:0009933
32 progeroid facial appearance 59 32 obligate (100%) Obligate (100%) HP:0005328
33 loss of facial adipose tissue 59 32 frequent (33%) Frequent (79-30%) HP:0000292
34 congenital generalized lipodystrophy 59 32 obligate (100%) Obligate (100%) HP:0009059
35 premature skin wrinkling 59 32 hallmark (90%) Very frequent (99-80%) HP:0100678
36 shallow orbits 59 32 frequent (33%) Frequent (79-30%) HP:0000586
37 abnormality of the forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000290
38 intellectual disability 59 Very frequent (99-80%)
39 hypertonia 59 Frequent (79-30%)
40 intellectual disability, severe 32 HP:0010864
41 high, narrow palate 32 HP:0002705
42 febrile seizures 32 occasional (7.5%) HP:0002373
43 chin dimple 59 Frequent (79-30%)
44 lipodystrophy 59 Frequent (79-30%)
45 generalized lipodystrophy 32 HP:0009064
46 large eyes 59 Frequent (79-30%)
47 absence of subcutaneous fat 32 HP:0007485
48 dimple chin 32 frequent (33%) HP:0010751
49 abnormally large globe 32 frequent (33%) HP:0001090

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:

41
Eye, Skin, Bone

Publications for Keppen-Lubinsky Syndrome

Articles related to Keppen-Lubinsky Syndrome:

# Title Authors Year
1
Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6. ( 25620207 )
2015
2
Keppen-Lubinsky syndrome: Expanding the phenotype. ( 19610118 )
2009

Variations for Keppen-Lubinsky Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 KCNJ6 p.Gly154Ser VAR_073431 rs786204795

ClinVar genetic disease variations for Keppen-Lubinsky Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ6 NM_002240.4(KCNJ6): c.455_457delCCA (p.Thr152del) deletion Pathogenic rs786204794 GRCh38 Chromosome 21, 37714700: 37714702
2 KCNJ6 NM_002240.4(KCNJ6): c.455_457delCCA (p.Thr152del) deletion Pathogenic rs786204794 GRCh37 Chromosome 21, 39087003: 39087005
3 KCNJ6 NM_002240.4(KCNJ6): c.460G> A (p.Gly154Ser) single nucleotide variant Pathogenic rs786204795 GRCh37 Chromosome 21, 39087000: 39087000
4 KCNJ6 NM_002240.4(KCNJ6): c.460G> A (p.Gly154Ser) single nucleotide variant Pathogenic rs786204795 GRCh38 Chromosome 21, 37714697: 37714697
5 KCNJ6 NM_002240.4(KCNJ6): c.512T> G (p.Leu171Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 21, 39086948: 39086948
6 KCNJ6 NM_002240.4(KCNJ6): c.512T> G (p.Leu171Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 21, 37714645: 37714645

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....