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:
expandDwarfism (D004392)
Parent Node:
expandMuscle Hypotonia (D009123)
..Starting node
..expandThree M Syndrome 2 (C567862)

       Child Nodes:



 Sister Nodes: 
..expandAllan-Herndon-Dudley syndrome (C537047)
..expandAtonic-Astatic Syndrome of Foerster (C565926)
..expandAxenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..expandBirk-Barel Mental Retardation Dysmorphism Syndrome (C567357)
..expandCarnitine Acetyltransferase Deficiency (C563249)
..expandCohen syndrome (C536438)
..expandCombined Oxidative Phosphorylation Deficiency 3 (C566467)
..expandCreases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age (C566543)
..expandDer Kaloustian Mcintosh Silver syndrome (C538217)
..expandEmanuel syndrome (C535733)
..expandEthanolaminosis (C562651)
..expandFumaric aciduria (C538191)
..expandGerman Syndrome (C562543)
..expandGrubben de Cock Borghgraef syndrome (C537621)
..expandHydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation (C565736)
..expandHypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response (C537159)
..expandHypotonia, Seizures, And Precocious Puberty (C567566)
..expandHypotonia-Cystinuria Syndrome (C564710)
..expandJoubert Syndrome 10 (C567582)
..expandJoubert syndrome 3 (C536295)
..expandJoubert syndrome 5 (C537688)
..expandKetoadipicaciduria (C565453)
..expandMENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
..expandMidface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
..expandMiller-McKusick-Malvaux-Syndrome (3M Syndrome) (C535314)
..expandOpitz-Kaveggia syndrome (C537923)
..expandQazi Markouizos syndrome (C536259)
..expandRadioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
..expandScalp ear nipple syndrome (C536623)
..expandThree M Syndrome 2 (C567862)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10983
Name:Three M Syndrome 2
Definition:
Alternative IDs:OMIM:612921
ParentIDs:MESH:D004392|MESH:D009123
TreeNumbers:C05.116.099.343/C567862 |C10.597.613.575/C567862 |C16.320.240/C567862 |C19.297/C567862 |C23.888.592.608.575/C567862
Synonyms:3M2 |3M SYNDROME 2
Slim Mappings:Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C567862
MeSH: C567862
OMIM: 612921;

Genes: OBSL1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000463Anteverted naresHP:0040284
3 HP:0000268DolichocephalyHP:0040284
4 HP:0002007Frontal bossingHP:0040284
5 HP:0003307HyperlordosisHP:0040284
6 HP:0000343Long philtrumHP:0040284
7 HP:0000272Malar flattening
8 HP:0000307Pointed chinHP:0040284
9 HP:0012428Prominent calcaneusHP:0040284
10 HP:0005274Prominent nasal tip
11 HP:0000411Protruding earHP:0040284
12 HP:0003691Scapular wingingHP:0040284
13 HP:0000470Short neckHP:0040284
14 HP:0004322Short stature
15 HP:0003100Slender long boneHP:0040284
16 HP:0012471Thick vermilion borderHP:0040284
17 HP:0000325Triangular faceHP:0040284
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_015311.2(OBSL1):c.1465C>T (p.Arg489Ter)23363OBSL1Pathogenic121918216RCV000001104; NMedGen:C2752041,OMIM:6129212220432509220432509NM_015311.2:c.1465C>TNP_056126.1:p.Arg489TerNC_000002.11:g.220432509G>AOMIM Allelic Variant:610991.0005C2752041 612921 Three M syndrome 2
NM_015311.2(OBSL1):c.1273dupA (p.Thr425Asnfs)23363OBSL1Pathogenic762334954RCV000175869; NMedGen:C2752041,OMIM:6129212220432786220432786NM_015311.2:c.1273dupANP_056126.1:p.Thr425AsnfsNC_000002.11:g.220432786dupT-C2752041 612921 Three M syndrome 2
NM_015311.2(OBSL1):c.1149C>A (p.Cys383Ter)23363OBSL1Pathogenic121918215RCV000001101; NMedGen:C2752041,OMIM:6129212220432910220432910NM_015311.2:c.1149C>ANP_056126.1:p.Cys383TerNC_000002.11:g.220432910G>TOMIM Allelic Variant:610991.0002C2752041 612921 Three M syndrome 2