Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandAbnormalities, Multiple (D000015)
Parent Node:
expandEye Diseases (D005128)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandObesity (D009765)
Parent Node:
expandPenile Diseases (D010409)
..Starting node
..expandMORM syndrome (C536984)

       Child Nodes:



 Sister Nodes: 
..expandBalanitis (D001446) Child1
..expandHypospadias (D007021) Child17
..expandMORM syndrome (C536984)
..expandPenile Induration (D010411)
..expandPenile Neoplasms (D010412)
..expandPhimosis (D010688) Child2
..expandPriapism (D011317) Child1
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:7389
Name:MORM syndrome
Definition:
Alternative IDs:OMIM:610156
ParentIDs:MESH:D000015|MESH:D005128|MESH:D008607|MESH:D009765|MESH:D010409
TreeNumbers:C10.597.606.643/C536984 |C11/C536984 |C12.294.494/C536984 |C16.131.077/C536984 |C18.654.726.500/C536984 |C23.888.144.699.500/C536984 |C23.888.592.604.646/C536984 |F03.550.600/C536984
Synonyms:Mental retardation, truncal Obesity, Retinal dystrophy and Micropenis |Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis |MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME |MORMS |MORM SYNDROME
Slim Mappings:Congenital abnormality|Eye disease|Mental disorder|Nervous system disease|Nutrition disorder|Signs and symptoms|Urogenital disease (male)
Reference: MedGen: C536984
MeSH: C536984
OMIM: 610156;

Genes: INPP5E;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0008915Childhood-onset truncal obesity
3 HP:0000518Cataract
4 HP:0000750Delayed speech and language development
5 HP:0002342Intellectual disability, moderate
6 HP:0000054Micropenis
7 HP:0000556Retinal dystrophy
8 HP:0001956Truncal obesity
9 HP:0000505Visual impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_019892.5(INPP5E):c.1879C>T (p.Gln627Ter)56623INPP5EPathogenic121918127RCV000000427; NMedGen:C1857802,OMIM:610156,ORPHA:758589139324183139324183NM_019892.5:c.1879C>TNP_063945.2:p.Gln627TerNC_000009.11:g.139324183G>AOMIM Allelic Variant:613037.0001C1857802 610156 MORM syndrome