Lambert Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: LMB010 MIFTS: 30	Lambert Syndrome Categories: Ear diseases, Fetal diseases, Rare diseases
Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

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

SNOMED-CT via HPO ⁶⁸ 119250001 18165001 199612005 more

UMLS ⁷¹ C1855551

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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, cerebellum and skin, and related phenotypes are intellectual disability and inguinal hernia

More information from OMIM: 245550

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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 54)

#	Related Disease	Score
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	autonomic dysfunction	10.0
19	breast cancer	9.8
20	colorectal cancer	9.8
21	pernicious anemia	9.8
22	myeloma, multiple	9.8
23	sjogren syndrome	9.8
24	ataxia and polyneuropathy, adult-onset	9.8
25	pulmonary disease, chronic obstructive	9.8
26	lung cancer susceptibility 3	9.8
27	autosomal recessive disease	9.8
28	large cell neuroendocrine carcinoma	9.8
29	microinvasive gastric cancer	9.8
30	interstitial nephritis	9.8
31	pituitary apoplexy	9.8
32	autonomic neuropathy	9.8
33	mononeuropathy	9.8
34	neutropenia	9.8
35	spinal muscular atrophy	9.8
36	biliary atresia	9.8
37	neuroendocrine carcinoma	9.8
38	impotence	9.8
39	pleural empyema	9.8
40	myopathy	9.8
41	neuromuscular disease	9.8
42	pneumonia	9.8
43	connective tissue disease	9.8
44	pulmonary large cell neuroendocrine carcinoma	9.8
45	cervix small cell carcinoma	9.8
46	prostate small cell carcinoma	9.8
47	muscular atrophy	9.8
48	neuropathy	9.8
49	lupus erythematosus	9.8
50	myotonic dystrophy	9.8

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

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Symptoms & Phenotypes for Lambert Syndrome

Human phenotypes related to Lambert Syndrome:

⁵⁸ ³¹ (show all 18)

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

Symptoms via clinical synopsis from OMIM:

⁵⁶

Abdomen:
inguinal hernia

G I:
intrahepatic biliary atresia
interlobular bile duct deficiency

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

Skin:
cholestatic jaundice

G U:
hypospadias

Neuro:
mental retardation

Limbs:
clubfoot

Clinical features from OMIM:

245550

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Drugs & Therapeutics for Lambert Syndrome

Search Clinical Trials , NIH Clinical Center for Lambert Syndrome

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Genetic Tests for Lambert Syndrome

Genetic tests related to Lambert Syndrome:

#	Genetic test	Affiliating Genes
1	Lambert Syndrome ²⁹

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Anatomical Context for Lambert Syndrome

MalaCards organs/tissues related to Lambert Syndrome:

⁴⁰

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

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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	Lambert JC...Saunieres AM	2352262	1990
2	Familial occurrence of a syndrome with branchial dysplasia, mental deficiency, club feet, and inguinal herniae. ⁵⁶	Lambert JC...Donzeau M	7108916	1982
3	False positive acetylcholine receptor antibodies in a case of unilateral chronic progressive external ophthalmoplegia: case report and review of literature. ⁶¹	Rajput R...Murray A	29333908	2018
4	[Lambert-Eaton myasthenic syndrome--a rare manifestation of paraneoplastic syndrome in ovarian cancer--case report]. ⁶¹	Zivaljevic M...Vujkov T	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	Tanasescu R...Nicolau A	16366144	2004
6	Ca2+ channels and synaptic transmission at the adult, neonatal, and P/Q-type deficient neuromuscular junction. ⁶¹	Nudler S...Uchitel OD	14592858	2003
7	[Paraneoplastic diseases of the motor end-plate and muscle]. ⁶¹	Rosich-Estrago M	11205565	2000
8	Trovafloxacin-induced weakness due to a demyelinating polyneuropathy. ⁶¹	Murray CK...Wortmann GW	10832955	2000
9	Branchial cleft anomaly, congenital heart disease, and biliary atresia: Goldenhar complex or Lambert syndrome? ⁶¹	Cohen J...Schanen NC	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	Sherer Y...Shoenfeld Y	10203612	1999
11	[Anesthetic management of a patient with Eaton-Lambert syndrome with chronic respiratory failure]. ⁶¹	Onozawa H...Tanifuji Y	10214010	1999
12	[Bronchial carcinoma--an overview]. ⁶¹	Zutic H	10546465	1999
13	Therapeutic plasma exchange in neurologic disorders. ⁶¹	Kes P	9473803	1997
14	Retrospective analysis of the treatment of patients with small cell lung cancer showing poor performance status. ⁶¹	Sakuragi T...Saijo N	8656551	1996
15	Adenocarcinoma of the prostate and Eaton-Lambert syndrome. A previously unreported association. ⁶¹	Agarawal SK...Abercrombie GF	8578283	1995
16	Neurophysiological examination of end-plate function in patients with lung cancer. ⁶¹	Jandolo B...Lopez M	7555930	1995
17	[A case of small cell lung cancer that developed during therapy for myasthenia gravis]. ⁶¹	Miyoshi R...Takahara J	7791277	1995
18	[The association of the Eaton-Lambert myasthenic syndrome and subacute cerebellar degeneration of nonparaneoplastic origin]. ⁶¹	Garcia Castanon I...Fernandez Ruiz LC	7700091	1995
19	Myasthenic (Eaton-Lambert) syndrome associated with pulmonary large-cell neuroendocrine carcinoma. ⁶¹	Demirer T...Aboulafia D	7973914	1994
20	Myasthenia gravis associated with small-cell carcinoma of the lung. ⁶¹	Fujita J...Takahara J	8306783	1994
21	Autoimmune anemia, neutropenia, Eaton-Lambert syndrome, and cerebellar degeneration in a patient with lymphoid hyperplasia. ⁶¹	Storek J...Kunkel LA	8115896	1994
22	Interferon-gamma, interleukin-4 and transforming growth factor-beta mRNA expression in multiple sclerosis and myasthenia gravis. ⁶¹	Link J	7732782	1994
23	Paraneoplastic syndromes: a challenge for neuroscience nursing. ⁶¹	Alexander J...Parylovich K	8228394	1993
24	[Brain metastasis of lung cancer with Eaton-Lambert syndrome--case report]. ⁶¹	Harada K...Anegawa S	1329890	1992
25	[Mixed pre- and postsynaptic neuromuscular block]. ⁶¹	Rondepierre P...Leys D	1604133	1992
26	[The Lambert-Eaton syndrome]. ⁶¹	Zenone T...Bernard JP	1332148	1992
27	Epidural analgesia in Eaton-Lambert myasthenic syndrome. Effects on respiratory function. ⁶¹	Sakura S...Kosaka Y	1862896	1991
28	Myasthenic (Eaton-Lambert) syndrome in association with an indolent non-Hodgkin's lymphoma. ⁶¹	Liesveld JL...Rosenthal SN	1994301	1991
29	Eaton-Lambert syndrome. ⁶¹		1847235	1991
30	Plasmapheresis: first year of experience at Humana Hospital-Alaska. ⁶¹	Neubauer RL...Morris GG	2080799	1990
31	Neurological manifestations associated with bronchogenic carcinoma. ⁶¹	Gauri LA...Misra SN	2262703	1990
32	[Eaton-Lambert syndrome manifested by respiratory failure associated with small cell carcinoma of the lung]. ⁶¹	Yamada A...Kuwabara H	2173652	1990
33	Eaton-Lambert syndrome: an early and initial presentation in a case of bronchogenic carcinoma. ⁶¹	Biswas TK...Roy DN	2262692	1990
34	Eaton-lambert syndrome associated with pituitary apoplexy--a case report. ⁶¹	Yamamoto M...Doi H	2551861	1989
35	End-plate dysfunction in acute organophosphate intoxication. ⁶¹	Besser R...Hopf HC	2927681	1989
36	Small cell carcinoma of prostate associated with myasthenic (Eaton-Lambert) syndrome. ⁶¹	Tetu B...von Eschenbach AC	2536972	1989
37	Eaton-Lambert syndrome in a patient with acute T cell lymphocytic leukemia. ⁶¹	Morrow JD...Stein RS	3059524	1988
38	Combined features of myasthenia gravis and Eaton-Lambert syndrome: anti-ganglioside antibodies in serum. ⁶¹	Kusunoki S...Nagai Y	3142966	1988
39	Eaton-Lambert syndrome as a harbinger of recurrent small-cell carcinoma of the cervix with improvement after combination chemotherapy. ⁶¹	Sutton GP...Ehrlich CE	2841632	1988
40	Recurrent lobar pneumonia associated with idiopathic Eaton-Lambert syndrome. ⁶¹	Wathen CG...Douglas AC	3212756	1988
41	Bronchogenic carcinoma with subacute cerebellar degeneration and Eaton-Lambert syndrome; an autopsy case. ⁶¹	Kobayashi H...Kiro S	3418988	1988
42	[Spinal muscular atrophy with features of myasthenia gravis and Eaton-Lambert syndrome. A case report]. ⁶¹	Ono S...Kurisaki H	2850884	1988
43	Electrophysiological studies in acute organophosphate poisoning. ⁶¹	Wadia RS...Sardesai HV	3694204	1987
44	Neurologic disorders in patients with small cell lung cancer. ⁶¹	Sculier JP...Curtis JE	2830955	1987
45	Overlap myasthenic syndrome: combined myasthenia gravis and Eaton-Lambert syndrome. ⁶¹	Oh SJ...Bradley RJ	3614671	1987
46	Transtracheal needle aspiration biopsy in the diagnosis of lung cancer with Eaton-Lambert syndrome. ⁶¹	Lee CH...Chee CY	2843261	1987
47	[A case of Eaton-Lambert syndrome with a clinical recovery following surgical removal of the tumor]. ⁶¹	Shimada T...Miyahara T	2855337	1987
48	Myasthenic syndrome (Eaton-Lambert syndrome) associated with pulmonary adenocarcinoma. ⁶¹	Ramos-Yeo YL...Reyes CV	3031377	1987
49	Respiratory failure secondary to Eaton-Lambert syndrome. ⁶¹	Collins LC	3027216	1986
50	Effects of serum-fractions from patients with Eaton-Lambert syndrome on rat cortical synaptosomal [3H]acetylcholine release. ⁶¹	Meyer EM...Scott G	3021170	1986

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Genes for Lambert Syndrome

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Variations for Lambert Syndrome

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Expression for Lambert Syndrome

Search GEO for disease gene expression data for Lambert Syndrome.

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Pathways for Lambert Syndrome

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GO Terms for Lambert Syndrome

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Sources for Lambert Syndrome

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