Laurence-Moon syndrome

A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.



Input patient's signs and symptoms


Narrow down the case reports



Total: 8 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(35.4%)		 8053762
 [Laurence-Moon (Bardet-Biedl) syndrome with growth hormone deficiency].
Chalvon-Demersay A, Tardieu M, Crosnier H, Benichou JJ, Pienkowski C, Rochiccioli P, Labrune B.
Arch Fr Pediatr. 1993;50(10):859-62.
Hypogonadism Proximal placement of thumb
GH1 GNRH1
rs606231167
Adult Females Growth Hormone Homo sapiens Laurence-Moon Syndrome Male
2
(31.0%)		 12150587
 Cerebellar vermis hypoplasia in a patient with Bardet-Biedl syndrome.
Baskin E, Kayiran SM, Oto S, Alehan F, Agildere AM, Saatci U.
J Child Neurol. 2002;17(5):385-7.
Hypogonadism Polydactyly
Bardet-Biedl Syndrome Cerebellum Child Differential Diagnosis Females Homo sapiens Hypogonadism Intellectual Disability Kidney Diseases Magnetic Resonance Imaging Obesity Polydactyly Retinal Degeneration
2
(31.0%)		 10831213
 Bardet-Biedl syndrome.
Hrynchak PK.
Optom Vis Sci. 2000;77(5):236-43.
Optic atrophy Polydactyly
Adult Bardet-Biedl Syndrome Cognition Disorders Electroretinography Homo sapiens Male Obesity Polydactyly Retinal Degeneration Visual Acuity Visual Fields
2
(31.0%)		 2081829
 Bardet-Biedl syndrome.
Steiner PA.
J Am Optom Assoc. 1990;61(11):852-5.
Hypogonadism Polydactyly
Child, Preschool Electroretinography Females Homo sapiens Laurence-Moon Syndrome Retinal Degeneration Syndrome Visual Acuity
5
(4.0%)		 11033503
 [Functional visual explorations of Bardet-Biedl syndrome. A study of three cases].
Ingster-Moati I, Rigaudiere F, Choltus-De Petigny MC, Bremond-Gignac D, Lestrade C, Grall Y.
J Fr Ophtalmol. 2000;23(8):802-8.
Hypogonadism
Bardet-Biedl Syndrome Child Child, Preschool Differential Diagnosis Electroretinography Females Homo sapiens Male Visual Acuity
5
(4.0%)		 7065946
 Bardet-Biedl syndrome and related disorders.
Schachat AP, Maumenee IH.
Arch Ophthalmol. 1982;100(2):285-8.
Obesity
Cataract Child, Preschool Genitalia Homo sapiens Infant Infant, Newborn Intellectual Disability Laurence-Moon Syndrome Male Obesity Retinal Degeneration Toes
5
(4.0%)		 3821182
 The pituitary gland in the Laurence-Moon syndrome.
Whitaker MD, Scheithauer BW, Kovacs KT, Randall RV, Campbell RJ, Okazaki H.
Mayo Clin Proc. 1987;62(3):216-22.
Hypogonadism
Homo sapiens Laurence-Moon Syndrome Male Pigment Epithelium of Eye Pituitary Gland Testis
5
(4.0%)		 2226552
 A patient with features of both Bardet-Biedl and Alstrom syndromes.
Hauser C, Rojas C, Roth A, Schmied E, Saurat JH.
Eur J Pediatr. 1990;149(11):783-5.
Hypogonadism
Acanthosis Nigricans Adult Diabetes Mellitus, Insulin-Dependent Homo sapiens Laurence-Moon Syndrome Male Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 24

HPO ID Term Frequency
HP:0001161 Hand polydactyly Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001513 Obesity Very frequent (99-80%)
HP:0006101 Finger syndactyly Very frequent (99-80%)
HP:0009896 Abnormality of the antitragus Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000083 Renal insufficiency Frequent (79-30%)
HP:0000407 Sensorineural hearing impairment Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0008736 Hypoplasia of penis Frequent (79-30%)
HP:0000248 Brachycephaly Occasional (29-5%)
HP:0000286 Epicanthus Occasional (29-5%)
HP:0000368 Low-set, posteriorly rotated ears Occasional (29-5%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000518 Cataract Occasional (29-5%)
HP:0000612 Iris coloboma Occasional (29-5%)
HP:0000639 Nystagmus Occasional (29-5%)
HP:0001156 Brachydactyly Occasional (29-5%)
HP:0001251 Ataxia Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0002612 Congenital hepatic fibrosis Occasional (29-5%)
HP:0005978 Type II diabetes mellitus Occasional (29-5%)
HP:0007598 Bilateral single transverse palmar creases Occasional (29-5%)
HP:0100627 Displacement of the urethral meatus Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 8

HPO ID Term # of case reports
HP:0001513 Obesity 2
HP:0010442 Polydactyly 2
HP:0000135 Hypogonadism 1
HP:0000488 Retinopathy 1
HP:0001251 Ataxia 1
HP:0001258 Spastic paraplegia 1
HP:0002313 Spastic paraparesis 1
HP:0010550 Paraplegia 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
PNPLA6 patatin like phospholipase domain containing 6 10908