Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandAbnormalities, Multiple (D000015)
Parent Node:
expandHypothalamic Diseases (D007027)
..Starting node
..expandLaurence-Moon Syndrome (D007849)

       Child Nodes:



 Sister Nodes: 
..expandBardet-Biedl Syndrome (D020788) Child13
..expandHypothalamic hamartomas (C537158)
..expandHypothalamic Neoplasms (D007029) Child7
..expandLaurence-Moon Syndrome (D007849)
..expandMicrogastria limb reduction defect (C537554)
..expandPituitary Diseases (D010900) Child60
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:6240
Name:Laurence-Moon Syndrome
Definition:An autosomal recessive condition characterized by hypogonadism; spinocerebellar degeneration; MENTAL RETARDATION; RETINITIS PIGMENTOSA; and OBESITY. This syndrome was previously referred to as Laurence-Moon-Biedl syndrome until BARDET-BIEDL SYNDROME was identified as a distinct entity. (From N Engl J Med. 1989 Oct 12;321(15):1002-9)
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D007027
TreeNumbers:C10.228.140.617.500 |C16.131.077.509
Synonyms:Laurence Moon Biedl Syndrome |Laurence-Moon-Biedl Syndrome |Laurence Moon Syndrome |Syndrome, Laurence-Moon |Syndrome, Laurence-Moon-Biedl
Slim Mappings:Congenital abnormality|Nervous system disease
Reference: MedGen: D007849
MeSH: D007849
OMIM: 245800;

Genes: PNPLA6;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001155Abnormality of the hand
3 HP:0001251Ataxia
4 HP:0001249Intellectual disability
5 HP:0000054Micropenis
6 HP:0000639Nystagmus
7 HP:0003812Phenotypic variability
8 HP:0000580Pigmentary retinopathy
9 HP:0000046Scrotal hypoplasia
10 HP:0004322Short stature
11 HP:0001258Spastic paraplegia
Disease Causing ClinVar Variants