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:
expandMeningocele (D008588)
..Starting node
..expandLateral meningocele syndrome (C537878)

       Child Nodes:



 Sister Nodes: 
..expandCerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome (C565867)
..expandLateral meningocele syndrome (C537878)
..expandSacral Agenesis Syndrome (C566762)
..expandSacral defect and anterior sacral meningocele (C537221)
..expandSakoda Complex (C567055)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:6232
Name:Lateral meningocele syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D008588
TreeNumbers:C10.500.680.598/C537878 |C16.131.077/C537878 |C16.131.666.680.598/C537878 |C23.300.707.968/C537878
Synonyms:Lehman Syndrome
Slim Mappings:Congenital abnormality|Nervous system disease|Pathology (anatomical condition)
Reference: MedGen: C537878
MeSH: C537878
OMIM: 130720;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001547Abnormal rib cage morphology
3 HP:0004452Abnormality of the middle ear ossicles
4 HP:0000951Abnormality of the skin
5 HP:0100702Arachnoid cyst
6 HP:0007099Arnold-Chiari type I malformation
7 HP:0004586Biconcave vertebral bodies
8 HP:0001647Bicuspid aortic valveHP:0040283
9 HP:0002208Coarse hair
10 HP:0000405Conductive hearing impairment
11 HP:0000028Cryptorchidism
12 HP:0000678Dental crowding
13 HP:0000268Dolichocephaly
14 HP:0000494Downslanted palpebral fissures
15 HP:0100775Dural ectasia
16 HP:0001290Generalized hypotonia
17 HP:0000218High palate
18 HP:0000316Hypertelorism
19 HP:0000023Inguinal hernia
20 HP:0001382Joint hypermobility
21 HP:0002808Kyphosis
22 HP:0000343Long philtrum
23 HP:0000369Low-set ears
24 HP:0000272Malar flattening
25 HP:0002435Meningocele
26 HP:0000347Micrognathia
27 HP:0001270Motor delay
28 HP:0001643Patent ductus arteriosus
29 HP:0000767Pectus excavatum
30 HP:0002691Platybasia
31 HP:0000358Posteriorly rotated ears
32 HP:0000508Ptosis
33 HP:0002694Sclerosis of skull base
34 HP:0002650Scoliosis
35 HP:0003194Short nasal bridge
36 HP:0000470Short neck
37 HP:0004322Short stature
38 HP:0000319Smooth philtrum
39 HP:0003396Syringomyelia
40 HP:0001537Umbilical hernia
41 HP:0002948Vertebral fusion
42 HP:0002645Wormian bones
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_000435.2(NOTCH3):c.6732C>A (p.Tyr2244Ter)4854NOTCH3Pathogenic869312910RCV000210475; NMedGen:C1851710,OMIM:130720,ORPHA:2789191527170715271707NM_000435.2:c.6732C>ANP_000426.2:p.Tyr2244TerNC_000019.9:g.15271707G>TOMIM Allelic Variant:600276.0015C1851710 130720 Lehman syndrome
NM_000435.2(NOTCH3):c.6692dupC (p.Ala2233Glyfs)4854NOTCH3Pathogenic773656789RCV000210463; NMedGen:C1851710,OMIM:130720,ORPHA:2789191527174715271747NM_000435.2:c.6692dupCNP_000426.2:p.Ala2233GlyfsNC_000019.9:g.15271747dupGOMIM Allelic Variant:600276.0014C1851710 130720 Lehman syndrome
NM_000435.2(NOTCH3):c.6663C>G (p.Tyr2221Ter)4854NOTCH3Pathogenic869312911RCV000210457; NMedGen:C1851710,OMIM:130720,ORPHA:2789191527177615271776NM_000435.2:c.6663C>GNP_000426.2:p.Tyr2221TerNC_000019.9:g.15271776G>COMIM Allelic Variant:600276.0016C1851710 130720 Lehman syndrome
NM_000435.2(NOTCH3):c.6461_6486del26 (p.Gly2154Alafs)4854NOTCH3Pathogenic869312909RCV000210456; NMedGen:C1851710,OMIM:130720,ORPHA:2789191527195315271978NM_000435.2:c.6461_6486del26NP_000426.2:p.Gly2154AlafsNC_000019.9:g.15271953_15271978del26OMIM Allelic Variant:600276.0013C1851710 130720 Lehman syndrome
NM_000435.2(NOTCH3):c.6247A>T (p.Lys2083Ter)4854NOTCH3Pathogenic796065045RCV000190331; NMedGen:C1851710,OMIM:130720,ORPHA:2789191527219215272192NM_000435.2:c.6247A>TNP_000426.2:p.Lys2083TerNC_000019.9:g.15272192T>AOMIM Allelic Variant:600276.0017C1851710 130720 Lehman syndrome