MCID: LMB010
MIFTS: 30

Lambert Syndrome

Categories: Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Lambert Syndrome

MalaCards integrated aliases for Lambert Syndrome:

Name: Lambert Syndrome 56 52 58 29 71
Branchial Dysplasia-Intellectual Disability-Inguinal Hernia Syndrome 58
Branchial Dysplasia, Clubfoot, Inguinal Hernia, and Biliary Atresia 56
Branchial Dysplasia Clubfoot Inguinal Hernia and Biliary Atresia 52

Characteristics:

Orphanet epidemiological data:

58
lambert syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
lambert syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 245550
MESH via Orphanet 44 C538396
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1855551
Orphanet 58 ORPHA1296
MedGen 41 C1855551
UMLS 71 C1855551

Summaries for Lambert Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1296 Definition Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit. Visit the Orphanet disease page for more resources.

MalaCards based summary : Lambert Syndrome, also known as branchial dysplasia-intellectual disability-inguinal hernia syndrome, is related to schwartz cohen-addad lambert syndrome and lambert-eaton myasthenic syndrome. Affiliated tissues include lung, prostate and heart, and related phenotypes are malar flattening and intellectual disability

More information from OMIM: 245550

Related Diseases for Lambert Syndrome

Diseases related to Lambert Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 schwartz cohen-addad lambert syndrome 12.3
2 lambert-eaton myasthenic syndrome 11.4
3 myasthenia gravis 10.4
4 small cell carcinoma 10.3
5 cerebellar degeneration 10.2
6 autoimmune disease 10.2
7 subacute cerebellar degeneration 10.1
8 thymoma, familial 10.1
9 respiratory failure 10.1
10 thymoma 10.1
11 lung oat cell carcinoma 10.1
12 paraneoplastic syndromes 10.1
13 small cell cancer of the lung 10.0
14 ptosis 10.0
15 adenocarcinoma 10.0
16 thymic carcinoma 10.0
17 hyperthyroidism 10.0
18 neuropathy 10.0
19 autonomic dysfunction 10.0
20 breast cancer 9.8
21 colorectal cancer 9.8
22 pernicious anemia 9.8
23 myeloma, multiple 9.8
24 sjogren syndrome 9.8
25 ataxia and polyneuropathy, adult-onset 9.8
26 aceruloplasminemia 9.8
27 pulmonary disease, chronic obstructive 9.8
28 lung cancer susceptibility 3 9.8
29 autosomal recessive disease 9.8
30 large cell neuroendocrine carcinoma 9.8
31 lymphocytic leukemia 9.8
32 microinvasive gastric cancer 9.8
33 interstitial nephritis 9.8
34 pituitary apoplexy 9.8
35 heart disease 9.8
36 autonomic neuropathy 9.8
37 mononeuropathy 9.8
38 neutropenia 9.8
39 spinal muscular atrophy 9.8
40 biliary atresia 9.8
41 neuroendocrine carcinoma 9.8
42 impotence 9.8
43 pleural empyema 9.8
44 myopathy 9.8
45 neuromuscular disease 9.8
46 pneumonia 9.8
47 connective tissue disease 9.8
48 pulmonary large cell neuroendocrine carcinoma 9.8
49 cervix small cell carcinoma 9.8
50 prostate small cell carcinoma 9.8

Graphical network of the top 20 diseases related to Lambert Syndrome:



Diseases related to Lambert Syndrome

Symptoms & Phenotypes for Lambert Syndrome

Human phenotypes related to Lambert Syndrome:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 inguinal hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000023
4 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
5 failure to thrive in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001531
6 wide mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000154
7 intrahepatic biliary atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005248
8 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
9 jaundice 58 31 frequent (33%) Frequent (79-30%) HP:0000952
10 decreased antibody level in blood 58 31 frequent (33%) Frequent (79-30%) HP:0004313
11 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
12 preauricular skin tag 58 31 frequent (33%) Frequent (79-30%) HP:0000384
13 branchial anomaly 58 31 frequent (33%) Frequent (79-30%) HP:0009794
14 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
15 aplasia/hypoplasia of the cerebellum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007360
16 talipes equinovarus 31 HP:0001762
17 cholestasis 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Abdomen:
inguinal hernia

G I:
intrahepatic biliary atresia
interlobular bile duct deficiency

Neuro:
mental retardation

Skin:
cholestatic jaundice

G U:
hypospadias

Limbs:
clubfoot

H E E N T:
macrostomia
preauricular tags
malar hypoplasia
branchial dysplasia
auricular meatal atresia

Clinical features from OMIM:

245550

Drugs & Therapeutics for Lambert Syndrome

Search Clinical Trials , NIH Clinical Center for Lambert Syndrome

Genetic Tests for Lambert Syndrome

Genetic tests related to Lambert Syndrome:

# Genetic test Affiliating Genes
1 Lambert Syndrome 29

Anatomical Context for Lambert Syndrome

MalaCards organs/tissues related to Lambert Syndrome:

40
Lung, Prostate, Heart, Cerebellum, Skin, Testes, Brain

Publications for Lambert Syndrome

Articles related to Lambert Syndrome:

(show top 50) (show all 138)
# Title Authors PMID Year
1
Branchial dysplasia, mental deficiency, club feet, and inguinal herniae: a report of two further cases associated with paucity of interlobular bile ducts. 56
2352262 1990
2
Familial occurrence of a syndrome with branchial dysplasia, mental deficiency, club feet, and inguinal herniae. 56
7108916 1982
3
False positive acetylcholine receptor antibodies in a case of unilateral chronic progressive external ophthalmoplegia: case report and review of literature. 61
29333908 2018
4
[Lambert-Eaton myasthenic syndrome--a rare manifestation of paraneoplastic syndrome in ovarian cancer--case report]. 61
16526254 2005
5
Lupus-like disease with anticardiolipin antibodies and lupus anticoagulant as a cause for atypical Eaton-Lambert syndrome and peripheral nerve disease: a case report. 61
16366144 2004
6
Ca2+ channels and synaptic transmission at the adult, neonatal, and P/Q-type deficient neuromuscular junction. 61
14592858 2003
7
[Paraneoplastic diseases of the motor end-plate and muscle]. 61
11205565 2000
8
Trovafloxacin-induced weakness due to a demyelinating polyneuropathy. 61
10832955 2000
9
Branchial cleft anomaly, congenital heart disease, and biliary atresia: Goldenhar complex or Lambert syndrome? 61
10893666 2000
10
A malignancy work-up in patients with cancer-associated (paraneoplastic) autoimmune diseases: pemphigus and myasthenic syndromes as cases in point (review). 61
10203612 1999
11
[Anesthetic management of a patient with Eaton-Lambert syndrome with chronic respiratory failure]. 61
10214010 1999
12
[Bronchial carcinoma--an overview]. 61
10546465 1999
13
Therapeutic plasma exchange in neurologic disorders. 61
9473803 1997
14
Retrospective analysis of the treatment of patients with small cell lung cancer showing poor performance status. 61
8656551 1996
15
Adenocarcinoma of the prostate and Eaton-Lambert syndrome. A previously unreported association. 61
8578283 1995
16
Neurophysiological examination of end-plate function in patients with lung cancer. 61
7555930 1995
17
[A case of small cell lung cancer that developed during therapy for myasthenia gravis]. 61
7791277 1995
18
[The association of the Eaton-Lambert myasthenic syndrome and subacute cerebellar degeneration of nonparaneoplastic origin]. 61
7700091 1995
19
Myasthenic (Eaton-Lambert) syndrome associated with pulmonary large-cell neuroendocrine carcinoma. 61
7973914 1994
20
Myasthenia gravis associated with small-cell carcinoma of the lung. 61
8306783 1994
21
Autoimmune anemia, neutropenia, Eaton-Lambert syndrome, and cerebellar degeneration in a patient with lymphoid hyperplasia. 61
8115896 1994
22
Interferon-gamma, interleukin-4 and transforming growth factor-beta mRNA expression in multiple sclerosis and myasthenia gravis. 61
7732782 1994
23
Paraneoplastic syndromes: a challenge for neuroscience nursing. 61
8228394 1993
24
[Brain metastasis of lung cancer with Eaton-Lambert syndrome--case report]. 61
1329890 1992
25
[Mixed pre- and postsynaptic neuromuscular block]. 61
1604133 1992
26
[The Lambert-Eaton syndrome]. 61
1332148 1992
27
Epidural analgesia in Eaton-Lambert myasthenic syndrome. Effects on respiratory function. 61
1862896 1991
28
Myasthenic (Eaton-Lambert) syndrome in association with an indolent non-Hodgkin's lymphoma. 61
1994301 1991
29
Eaton-Lambert syndrome. 61
1847235 1991
30
Plasmapheresis: first year of experience at Humana Hospital-Alaska. 61
2080799 1990
31
Neurological manifestations associated with bronchogenic carcinoma. 61
2262703 1990
32
[Eaton-Lambert syndrome manifested by respiratory failure associated with small cell carcinoma of the lung]. 61
2173652 1990
33
Eaton-Lambert syndrome: an early and initial presentation in a case of bronchogenic carcinoma. 61
2262692 1990
34
Eaton-lambert syndrome associated with pituitary apoplexy--a case report. 61
2551861 1989
35
End-plate dysfunction in acute organophosphate intoxication. 61
2927681 1989
36
Small cell carcinoma of prostate associated with myasthenic (Eaton-Lambert) syndrome. 61
2536972 1989
37
Eaton-Lambert syndrome in a patient with acute T cell lymphocytic leukemia. 61
3059524 1988
38
Combined features of myasthenia gravis and Eaton-Lambert syndrome: anti-ganglioside antibodies in serum. 61
3142966 1988
39
Eaton-Lambert syndrome as a harbinger of recurrent small-cell carcinoma of the cervix with improvement after combination chemotherapy. 61
2841632 1988
40
Recurrent lobar pneumonia associated with idiopathic Eaton-Lambert syndrome. 61
3212756 1988
41
Bronchogenic carcinoma with subacute cerebellar degeneration and Eaton-Lambert syndrome; an autopsy case. 61
3418988 1988
42
[Spinal muscular atrophy with features of myasthenia gravis and Eaton-Lambert syndrome. A case report]. 61
2850884 1988
43
Electrophysiological studies in acute organophosphate poisoning. 61
3694204 1987
44
Neurologic disorders in patients with small cell lung cancer. 61
2830955 1987
45
Overlap myasthenic syndrome: combined myasthenia gravis and Eaton-Lambert syndrome. 61
3614671 1987
46
Transtracheal needle aspiration biopsy in the diagnosis of lung cancer with Eaton-Lambert syndrome. 61
2843261 1987
47
[A case of Eaton-Lambert syndrome with a clinical recovery following surgical removal of the tumor]. 61
2855337 1987
48
Myasthenic syndrome (Eaton-Lambert syndrome) associated with pulmonary adenocarcinoma. 61
3031377 1987
49
Respiratory failure secondary to Eaton-Lambert syndrome. 61
3027216 1986
50
Effects of serum-fractions from patients with Eaton-Lambert syndrome on rat cortical synaptosomal [3H]acetylcholine release. 61
3021170 1986

Variations for Lambert Syndrome

Expression for Lambert Syndrome

Search GEO for disease gene expression data for Lambert Syndrome.

Pathways for Lambert Syndrome

GO Terms for Lambert Syndrome

Sources for Lambert 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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