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:
expandDiseases (C)
Parent Node:
expandLoose Anagen Hair Syndrome (D058247)
Parent Node:
expandNoonan like syndrome (C537846)
..Starting node
..expandNOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR (OMIM:607721)

       Child Nodes:



 Sister Nodes: 
..expandNOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR (OMIM:607721)
..expandNOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:8123
Name:NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR
Definition:
Alternative IDs:
ParentIDs:MESH:C537846|MESH:D058247
TreeNumbers:C05.500.368/C537846/607721 |C05.660.207.690/C537846/607721 |C07.320.391/C537846/607721 |C07.465.714.258.557/C537846/607721 |C14.240.400.787/C537846/607721 |C14.280.400.787/C537846/607721 |C16.131.240.400.784/C537846/607721 |C16.131.621.207.690/C537846/607721 |C1
Synonyms:NSLH |TOSTI SYNDROME
Slim Mappings:Cardiovascular disease|Congenital abnormality|Connective tissue disease|Mouth disease|Musculoskeletal disease|Pathology (anatomical condition)|Pathology (process)|Skin disease
Reference: MedGen: 607721
MeSH: 607721
OMIM: 607721;

Genes: SHOC2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001631Atrial septal defect
3 HP:0006191Deep palmar creaseHP:0040283
4 HP:0000964EczemaHP:0040283
5 HP:0011968Feeding difficultiesHP:0040283
6 HP:0001290Generalized hypotoniaHP:0040283
7 HP:0000752Hyperactivity
8 HP:0000316Hypertelorism
9 HP:0001639Hypertrophic cardiomyopathy
10 HP:0002079Hypoplasia of the corpus callosumHP:0040283
11 HP:0008064IchthyosisHP:0040283
12 HP:0001249Intellectual disability
13 HP:0001388Joint laxityHP:0040283
14 HP:0000527Long eyelashesHP:0040283
15 HP:0040169Loose anagen hair
16 HP:0000369Low-set ears
17 HP:0000256Macrocephaly
18 HP:0001611Nasal speechHP:0040283
19 HP:0001561Polyhydramnios
20 HP:0000358Posteriorly rotated ears
21 HP:0011220Prominent forehead
22 HP:0001642Pulmonic stenosis
23 HP:0000470Short neck
24 HP:0004322Short stature
25 HP:0002209Sparse scalp hair
26 HP:0000486Strabismus
27 HP:0001629Ventricular septal defect
28 HP:0000465Webbed neck
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_007373.3(SHOC2):c.4A>G (p.Ser2Gly)8036SHOC2Likely pathogenic;Pathogenic267607048RCV000007223; RCV000208379; RCV000149834; RCV000213000; NMedGen:C0028326, Orphanet:ORPHA648,SNOMED CT:205824006; MedGen:C1843181,OMIM:607721,ORPHA:2701; MedGen:CN166718; MedGen:CN22180910112724120112724120NM_007373.3:c.4A>GNP_031399.2:p.Ser2GlyNC_000010.10:g.112724120A>GOMIM Allelic Variant:602775.0001C0028326 Noonan syndrome; C1843181 607721 Noonan-like syndrome with loose anagen hair; CN221809 not provided; CN166718 Rasopathy
NM_007373.3(SHOC2):c.519G>A (p.Met173Ile)8036SHOC2Pathogenic;Uncertain significance730881020RCV000169685; RCV000159111; NMedGen:C1843181,OMIM:607721,ORPHA:2701; MedGen:CN16937410112724635112724635NM_007373.3:c.519G>ANP_031399.2:p.Met173IleNC_000010.10:g.112724635G>A-C1843181 607721 Noonan-like syndrome with loose anagen hair; CN169374 not specified