Page last updated: 2024-09-28

Klein Syndrome

Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.

Synonyms(15)

Synonym
Waardenburg Syndrome, Type 1
Waardenburg Syndrome with Upper Limb Anomalies
White Forelock (Poliosis) Syndrome with Multiple Congenital Malformations
Waardenburg-Klein Syndrome
Klein's Syndrome
Waardenburg Syndrome
Waardenburg Syndrome Type 3
Klein-Waardenburg Syndrome
Waardenburg's Syndrome Type 1
Waardenburg Syndrome Type 1
Waardenburg Syndrome, Type 3
Waardenburg's Syndrome
Klein Syndrome
Waardenburg Syndrome with Dystopia Canthorum
Waardenburg Syndrome, Type III

Research Excerpts

Overview

ExcerptReference
"Waardenburg-Klein syndrome is an "Oculo-dermato-auditif" dysplasia described in 1947 by Waardenburg and by Klein in 1950."( Babagbeto, M; Bassabi, SK; Doutetien, C; Hounkpe, YY; Latoundji, S; Medji, AP; Oussa, G; Vodouhe, SJ, 1997)
"Waardenburg syndrome is a rare genetic disorder characterized by varying degree of deafness associated with pigmentary anomaly and defects of neural crest cell derived structures."( Bansal, Y; Goyal, G; Jain, P; Mishra, C; Singh, M, 2013)
"The Waardenburg syndrome is a group of rare genetic diseases, which clinical manifestations include neurosensory hearing loss, diminished pigmentation of forelock in the frontal region, iris heterochromia, medial canthus dystopia, and the presence of such changes in first-line relatives."( Astakhov, SY; Astakhov, YS; Lisochkina, AB; Shakhnazarova, AA; Takhtaev, YV; Tultseva, SN, 2019)
"Waardenburg syndrome is an autosomal dominant disorder with varying degrees of sensorineural hearing loss as well as abnormal pigmentation in hair, skin, and iris."( Wan, Y; Wang, N; Zhang, L, 2022)
"Waardenburg syndrome is a rare genetic condition with an incidence of 1 in 212 000."( George, FSA; Sam, LE; Tanwar, M; Wall, L, 2023)

Research

Studies (90)

TimeframeStudies, This Condition (%)All Conditions %
pre-199038 (42.22)23.3326
1990's14 (15.56)12.5806
2000's8 (8.89)18.1394
2010's23 (25.56)28.8240
2020's7 (7.78)9.53
DrugIndicatedRelationship StrengthStudiesTrials
cytosine0low10
iodine0low10
thymine0low10
uric acid0low10
gentamicin0low10
guanethidine0low10
2-propanol0low400
midazolam0low10
thalidomide0low10
serine0low10
glutamine0low10
physostigmine0low10
kanamycin a0low10
leucine0low10
methionine0low10
histidine0low10
valine0low10
arginine0low20
ethylnitrosourea0low30
streptomycin0low10
etoposide0low10
propiconazole0low10
nsc-1727550low10
proline0low10
atropine0low10
carboplatin0low10
cocaine0low10
isomethyleugenol0low10
zinc oxide0low10
quinine0low10
phenylephrine hydrochloride0low150
eye0low140

Protein Targets (385)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
hypoxia-inducible factor 1 alpha subunit3003
RAR-related orphan receptor gamma9009
GLI family zinc finger 3100010
AR protein7007
aldehyde dehydrogenase 1 family, member A15005
retinoic acid nuclear receptor alpha variant 15005
retinoid X nuclear receptor alpha6006
estrogen nuclear receptor alpha9009
peroxisome proliferator-activated receptor delta3003
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a3003
activating transcription factor 64004
v-jun sarcoma virus 17 oncogene homolog (avian)3003
Histone H2A.x2002
thyroid hormone receptor beta isoform a3003
heat shock protein beta-12002
nuclear factor erythroid 2-related factor 2 isoform 19009
lamin isoform A-delta106006
Voltage-dependent calcium channel gamma-2 subunit4004
Glutamate receptor 24004
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE3003
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0022
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0022
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0022
thioredoxin reductase4004
phosphopantetheinyl transferase5005
NFKB1 protein, partial1001
GLS protein3003
thyroid stimulating hormone receptor1001
alpha-galactosidase1001
euchromatic histone-lysine N-methyltransferase 29009
cytochrome P450 2C19 precursor1001
chromobox protein homolog 14004
flap endonuclease 13003
DNA polymerase iota isoform a (long)3003
muscarinic acetylcholine receptor M12002
lethal factor (plasmid)4004
Cytochrome P450 3A40304
Nitric oxide synthase, endothelial0002
Nitric oxide synthase, brain0001
Nitric oxide synthase, brain 0002
Nitric oxide synthase, inducible0001
Nitric oxide synthase, inducible0014
Cationic amino acid transporter 30101
ATP-dependent phosphofructokinase3003
Chain A, 2-oxoglutarate Oxygenase5005
nuclear receptor subfamily 1, group I, member 34004
glucocorticoid receptor [Homo sapiens]6006
pregnane X nuclear receptor5005
cystic fibrosis transmembrane conductance regulator0101
DNA polymerase beta1001
short transient receptor potential channel 6 isoform 10011
Solute carrier family 22 member 1 0404
ATP-binding cassette sub-family C member 30404
Multidrug resistance-associated protein 40404
5-hydroxytryptamine receptor 40202
Bile salt export pump0909
Muscarinic acetylcholine receptor M20216
Muscarinic acetylcholine receptor M40215
Muscarinic acetylcholine receptor M10316
Muscarinic acetylcholine receptor M30215
Muscarinic acetylcholine receptor M40215
Muscarinic acetylcholine receptor M50215
Muscarinic acetylcholine receptor M50215
Muscarinic acetylcholine receptor M20317
Muscarinic acetylcholine receptor M10216
Muscarinic acetylcholine receptor M10001
Muscarinic acetylcholine receptor M30215
Alpha-1D adrenergic receptor0202
5-hydroxytryptamine receptor 2C0202
Muscarinic acetylcholine receptor M40101
Histamine H2 receptor1002
5-hydroxytryptamine receptor 70202
Reverse transcriptase/RNaseH 0001
Muscarinic acetylcholine receptor0112
Canalicular multispecific organic anion transporter 10506
Chain A, TYROSYL-DNA PHOSPHODIESTERASE2002
Chain A, Putative fructose-1,6-bisphosphate aldolase3003
Chain A, HADH2 protein1001
Chain B, HADH2 protein1001
Chain A, Cruzipain1001
USP1 protein, partial2002
Microtubule-associated protein tau1001
vitamin D3 receptor isoform VDRA4004
DNA polymerase kappa isoform 13003
caspase-1 isoform alpha precursor1001
Caspase-71001
Inositol monophosphatase 11001
Solute carrier organic anion transporter family member 1B30405
Solute carrier organic anion transporter family member 1B10203
acetylcholinesterase3003
estrogen receptor 2 (ER beta)2002
G1001
cytochrome P450 2D64004
histone-lysine N-methyltransferase 2A isoform 2 precursor2002
histone acetyltransferase KAT2A isoform 13003
Interferon beta1001
HLA class I histocompatibility antigen, B alpha chain 1001
Inositol hexakisphosphate kinase 11001
cytochrome P450 2C9, partial1001
Chain A, CHIMERA OF IG KAPPA CHAIN: HUMAN CONSTANT REGION AND MOUSE VARIABLE REGION0011
Chain B, CHIMERA OF IG GAMMA-1 CHAIN: HUMAN CONSTANT REGION AND MOUSE VARIABLE REGION0011
Chain H, Fab M82G2, Heavy chain0011
Chain L, Fab M82G2, Light chain0011
Chain H, Fab M82g2, Heavy Chain0011
Chain L, Fab M82g2, Light Chain0011
Gamma-aminobutyric acid receptor subunit pi0101
Gamma-aminobutyric acid receptor subunit delta0101
Amyloid-beta precursor protein0101
Fatty acid-binding protein, heart0101
Muscarinic acetylcholine receptor M20101
5-hydroxytryptamine receptor 2C0202
Tryptophan 5-hydroxylase 10101
5-hydroxytryptamine receptor 2A0202
Gamma-aminobutyric acid receptor subunit alpha-10101
Gamma-aminobutyric acid receptor subunit beta-10101
Gamma-aminobutyric acid receptor subunit gamma-20101
D0101
5-hydroxytryptamine receptor 1A0101
Alpha-2B adrenergic receptor0101
Alpha-2C adrenergic receptor0101
Alpha-2A adrenergic receptor0101
Liver carboxylesterase 10001
Sodium-dependent noradrenaline transporter 0202
Sodium-dependent dopamine transporter0202
cAMP-specific 3',5'-cyclic phosphodiesterase 4A0202
Gamma-aminobutyric acid receptor subunit beta-30101
5-hydroxytryptamine receptor 1B0101
5-hydroxytryptamine receptor 1D0101
5-hydroxytryptamine receptor 1F0101
5-hydroxytryptamine receptor 2B0202
5-hydroxytryptamine receptor 60101
Gamma-aminobutyric acid receptor subunit alpha-50101
Sodium-dependent serotonin transporter0202
Sodium-dependent serotonin transporter0203
5-hydroxytryptamine receptor 7 0101
Gamma-aminobutyric acid receptor subunit alpha-30101
5-hydroxytryptamine receptor 5A0101
5-hydroxytryptamine receptor 5B0101
Glutamate receptor ionotropic, NMDA 1 0204
5-hydroxytryptamine receptor 3A0101
Lysosomal Pro-X carboxypeptidase0101
Gamma-aminobutyric acid receptor subunit alpha-20101
Gamma-aminobutyric acid receptor subunit beta-20101
Gamma-aminobutyric acid receptor subunit alpha-40101
D(2) dopamine receptor0101
Gamma-aminobutyric acid receptor subunit epsilon0101
Glutamate receptor ionotropic, NMDA 2A 0103
Glutamate receptor ionotropic, NMDA 2B0103
Glutamate receptor ionotropic, NMDA 2C0103
Sodium-dependent dopamine transporter 0202
cAMP-specific 3',5'-cyclic phosphodiesterase 4B0202
cAMP-specific 3',5'-cyclic phosphodiesterase 4D0202
Potassium voltage-gated channel subfamily H member 20101
Leukotriene B4 receptor 10101
Gamma-aminobutyric acid receptor subunit alpha-60101
Sodium-dependent dopamine transporter0202
Glutamate receptor ionotropic, NMDA 2D0103
5-hydroxytryptamine receptor 4 0101
Gamma-aminobutyric acid receptor subunit gamma-10101
Glutamate receptor ionotropic, NMDA 3B0103
Sigma non-opioid intracellular receptor 10202
Gamma-aminobutyric acid receptor subunit gamma-30101
5-hydroxytryptamine receptor 3B0101
Leukotriene B4 receptor 20101
Glutamate receptor ionotropic, NMDA 3A0103
Gamma-aminobutyric acid receptor subunit theta0101
Transporter0202
IDH13003
geminin6006
Deoxycytidine kinase0001
interleukin 81001
pregnane X receptor2002
progesterone receptor4004
glp-1 receptor, partial3003
SMAD family member 22002
SMAD family member 32002
TDP1 protein6006
caspase 7, apoptosis-related cysteine protease1001
estrogen-related nuclear receptor alpha6006
67.9K protein1001
peroxisome proliferator activated receptor gamma5005
vitamin D (1,25- dihydroxyvitamin D3) receptor1001
caspase-31001
LMP1 [Human herpesvirus 4]0001
thyroid stimulating hormone receptor3003
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a1001
nuclear factor erythroid 2-related factor 2 isoform 21001
thyroid hormone receptor beta isoform 23003
nuclear receptor coactivator 1 isoform 1 [Homo sapiens]0101
urokinase-type plasminogen activator precursor1001
plasminogen precursor1001
urokinase plasminogen activator surface receptor precursor1001
transactivating tegument protein VP16 [Human herpesvirus 1]0101
nuclear receptor coactivator 3 isoform a0101
Prothrombin0001
Regulatory protein E20011
Cellular tumor antigen p533003
ATP-dependent translocase ABCB10202
ATP-dependent translocase ABCB10507
DNA topoisomerase 10102
DNA topoisomerase 2-alpha0117
Cytochrome P450 2C9 0101
Polyunsaturated fatty acid lipoxygenase ALOX150101
DNA topoisomerase 20001
ATP-dependent translocase ABCB10202
UDP-glucuronosyltransferase 1A1 0102
Serum paraoxonase/arylesterase 10101
Caspase-30101
DNA topoisomerase 2-alpha 0001
DNA topoisomerase 2-beta0118
Tubulin beta-2B chain0101
Integrase 0101
Similar to alpha-tubulin isoform 1 0101
Similar to alpha-tubulin isoform 1 0101
ATPase family AAA domain-containing protein 52002
Ataxin-22002
Chain A, Glutamine Binding Protein0011
15-lipoxygenase, partial1001
arylsulfatase A3003
Bloom syndrome protein isoform 14004
peripheral myelin protein 22 isoform 11001
Carbonic anhydrase 10003
Carbonic anhydrase 20003
Neutral amino acid transporter A0303
Asc-type amino acid transporter 10101
Neutral amino acid transporter B(0)0303
Carbonic anhydrase-like protein, putative0002
Amino acid transporter0303
Chain A, HISTIDINE-BINDING PROTEIN0011
ATAD5 protein, partial1001
cytochrome P450 3A4 isoform 11001
Gamma-aminobutyric acid receptor subunit pi1102
Carbonic anhydrase 120001
Plasma kallikrein0001
Carbonic anhydrase 30001
Histidine-binding periplasmic protein0011
Gamma-aminobutyric acid receptor subunit beta-11102
Gamma-aminobutyric acid receptor subunit delta1102
Gamma-aminobutyric acid receptor subunit gamma-21102
Gamma-aminobutyric acid receptor subunit alpha-51102
Gamma-aminobutyric acid receptor subunit alpha-31102
Carbonic anhydrase 40001
Carbonic anhydrase 60001
Gamma-aminobutyric acid receptor subunit gamma-11102
Gamma-aminobutyric acid receptor subunit alpha-21102
Adenosine receptor A10001
5-hydroxytryptamine receptor 1D0001
Gamma-aminobutyric acid receptor subunit alpha-41102
Gamma-aminobutyric acid receptor subunit gamma-31102
Gamma-aminobutyric acid receptor subunit alpha-61102
Adenosine receptor A2a0001
Carbonic anhydrase 5A, mitochondrial0001
Carbonic anhydrase0001
Carbonic anhydrase 70001
Carbonic anhydrase0001
Gamma-aminobutyric acid receptor subunit alpha-11102
Gamma-aminobutyric acid receptor subunit beta-31102
Gamma-aminobutyric acid receptor subunit beta-21102
Large neutral amino acids transporter small subunit 10404
Glutaminyl-peptide cyclotransferase0101
Carbonic anhydrase 90001
Carbonic anhydrase 0001
Carbonic anhydrase0001
Carbonic anhydrase0001
Carbonic anhydrase 0001
Carbonic anhydrase 130001
GABA theta subunit1102
Carbonic anhydrase 40001
Carbonic anhydrase 150001
Carbonic anhydrase 130001
Gamma-aminobutyric acid receptor subunit epsilon1102
Carbonic anhydrase 140001
Carbonic anhydrase 5B, mitochondrial0001
Luciferase1001
aryl hydrocarbon receptor4004
histone deacetylase 9 isoform 31001
3-oxoacyl-[acyl-carrier-protein] synthase 30101
Gap junction alpha-1 protein0101
Gap junction beta-2 protein0101
Spike glycoprotein2002
Acyl-protein thioesterase 10101
Chain A, AMINOPEPTIDASE0101
Chain A, AMINOPEPTIDASE0101
Chain A, Leucine Aminopeptidase0101
Alkaline phosphatase, tissue-nonspecific isozyme0101
Intestinal-type alkaline phosphatase0101
Proton-coupled amino acid transporter 10304
Phospholipase A-2-activating protein0101
Chain A, Methionyl-tRNA synthetase0011
Chain A, Methionyl-tRNA synthetase0011
Chain A, Aminopeptidase0101
Chain A, Methionine aminopeptidase0101
S-ribosylhomocysteine lyase0101
Adenylate cyclase type 50001
S-adenosylmethionine synthase isoform type-10001
S-adenosylmethionine synthase isoform type-20001
Fatty acid synthase0101
peripheral myelin protein 223003
Translocator protein0101
UDP-glucuronosyltransferase 2B70101
UDP-glucuronosyltransferase 1-60101
UDP-glucuronosyltransferase 1A40101
UDP-glucuronosyltransferase 2B10 0101
GALC protein1001
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)1001
beta-2 adrenergic receptor1001
lysosomal alpha-glucosidase preproprotein1001
mu-type opioid receptor isoform MOR-10011
Vpr1001
5-hydroxytryptamine receptor 2A0011
Neuronal acetylcholine receptor subunit alpha-41001
Neuronal acetylcholine receptor subunit beta-21001
nonstructural protein 12002
hexokinase-4 isoform 11001
atrial natriuretic peptide receptor 1 precursor1001
glucokinase regulatory protein1001
survival motor neuron protein isoform d1001
M-phase phosphoprotein 81001
Acetylcholinesterase0304
Bile salt export pump0202
Acetylcholinesterase0101
Cholinesterase0202
Cytochrome P450 2D60303
Alpha-1B adrenergic receptor0101
Acetylcholinesterase0101
Acetylcholinesterase0102
Acetylcholinesterase 0101
Alpha-1D adrenergic receptor0101
Delta-type opioid receptor0101
Acetylcholinesterase0101
Acetylcholinesterase0101
Alpha-1A adrenergic receptor0101
Cholinesterase0304
Cholinesterase0101
Acyl-CoA:cholesterol acyltransferase 0101
Carboxylic ester hydrolase 0101
Carboxylic ester hydrolase 0101
Glutamate 5-kinase0001
Angiotensin-converting enzyme 0101
Chain A, Beta-lactamase1001
Chain A, Ferritin light chain1001
farnesoid X nuclear receptor3003
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)1001
heat shock protein HSP 90-alpha isoform 20001
nuclear receptor ROR-gamma isoform 11001
Polyunsaturated fatty acid lipoxygenase ALOX15B1001
Guanine nucleotide-binding protein G1001
TAR DNA-binding protein 431001
heat shock protein 90, putative0001
cytochrome P450 family 3 subfamily A polypeptide 42002
Solute carrier family 22 member 10101
Solute carrier family 22 member 20102
Solute carrier organic anion transporter family member 1A40101
Solute carrier family 22 member 20101
Potassium channel subfamily K member 20101
Albumin0011
Histidine-rich protein PFHRP-II0101
Cytochrome P450 2D10101
Cytochrome P450 2D260101
Cytochrome P450 2D30101
Solute carrier organic anion transporter family member 1A10101
Solute carrier family 22 member 10203
Cytochrome P450 2D40101
Solute carrier family 22 member 20202
Pyruvate kinase PKM0011
Enoyl-[acyl-carrier-protein] reductase [NADH]0001
Protein-arginine deiminase type-40202
Cereblon isoform 40202
EWS/FLI fusion protein1001
Prostaglandin G/H synthase 10101
Prostaglandin G/H synthase 20101
cAMP-specific 3',5'-cyclic phosphodiesterase 4C0101
DNA-binding protein Ikaros0001
DNA damage-binding protein 10112
Protein cereblon0214
Thymidine phosphorylase0101
Chain A, Glycogen phosphorylase, liver form0011
Chain A, glycogen phosphorylase, liver form0011
Chain A, Glycogen phosphorylase, liver form0011
Chain A, Glycogen phosphorylase, liver form0011
Solute carrier family 22 member 60001
Solute carrier family 22 member 80101
Solute carrier family 2, facilitated glucose transporter member 90112
Guanine deaminase0101
Chain A, Arginase 10101
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]