MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
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Bone Diseases (D001847)
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Hypertelorism (D006972)
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Intellectual Disability (D008607)
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Myopia (D009216)
..Starting node
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Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility (C566988)

       Child Nodes:



 Sister Nodes: 
..expandAplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction (C563394)
..expandBlepharoptosis myopia ectopia lentis (C536236)
..expandBornholm Eye Disease (C564092)
..expandCohen syndrome (C536438)
..expandDandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy (C535985)
..expandDEAFNESS AND MYOPIA (OMIM:221200)
..expandDeafness, Cochlear, with Myopia and Intellectual Impairment (C565645)
..expandDonnai-Barrow syndrome (C536390)
..expandEpiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (C565585)
..expandEpiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness (C565046)
..expandGastrocutaneous syndrome (C535651)
..expandHypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility (C566988)
..expandMASS syndrome (C536030)
..expandMicrophthalmia, Isolated, With Corectopia (C563581)
..expandMousa Al din Al Nassar syndrome (C536989)
..expandMyopia 1 (C564091)
..expandMyopia 10 (C563758)
..expandMyopia 11 (C566490)
..expandMyopia 12 (C566489)
..expandMyopia 13 (C564473)
..expandMyopia 14 (C565202)
..expandMyopia 15 (C567193)
..expandMyopia 16 (C567259)
..expandMyopia 18, Autosomal Recessive (C567606)
..expandMYOPIA 19, AUTOSOMAL DOMINANT (OMIM:613969)
..expandMyopia 2 (C563541)
..expandMYOPIA 20, AUTOSOMAL DOMINANT (OMIM:614166)
..expandMYOPIA 21, AUTOSOMAL DOMINANT (OMIM:614167)
..expandMYOPIA 22, AUTOSOMAL DOMINANT (OMIM:615420)
..expandMYOPIA 23, AUTOSOMAL RECESSIVE (OMIM:615431)
..expandMYOPIA 24, AUTOSOMAL DOMINANT (OMIM:615946)
..expandMYOPIA 25, AUTOSOMAL DOMINANT (OMIM:617238)
..expandMyopia 3 (C566397)
..expandMyopia 5 (C563922)
..expandMyopia 6 (C536105)
..expandMyopia 7 (C563761)
..expandMyopia 8 (C563760)
..expandMyopia 9 (C563759)
..expandMyopia, Degenerative (D047728)
..expandMYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION (OMIM:614292)
..expandNight blindness skeletal anomalies unusual facies (C536121)
..expandNight blindness, congenital stationary (C536122) Child4
..expandNoble Bass Sherman syndrome (C536124)
..expandOphthalmoplegia, External, and Myopia (C564087)
..expandPolydactyly myopia syndrome (C536331)
..expandSinus Node Disease and Myopia (C566690)
..expandSpondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
..expandStickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
..expandSTICKLER SYNDROME, TYPE IV (OMIM:614134)
..expandSTICKLER SYNDROME, TYPE V (OMIM:614284)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:5967
Name:Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
Definition:
Alternative IDs:OMIM:611174
ParentIDs:MESH:D001847|MESH:D006972|MESH:D008607|MESH:D009216
TreeNumbers:C05.116.099.370.231.480/C566988 |C05.116/C566988 |C05.660.207.231.480/C566988 |C10.597.606.360/C566988 |C11.744.636/C566988 |C16.131.621.207.231.480/C566988 |C23.888.592.604.646/C566988 |F03.625.539/C566988
Synonyms:HAMAMY SYNDROME |HMMS |HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY
Slim Mappings:Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C566988
MeSH: C566988
OMIM: 611174;
MSeqDR LSDB:  
Genes: DOCK8; IRX5;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000463Anteverted nares
3 HP:0001631Atrial septal defectHP:0040283
4 HP:0000248Brachycephaly
5 HP:0001363CraniosynostosisHP:0040283
6 HP:0000028Cryptorchidism
7 HP:0000689Dental malocclusionHP:0040283
8 HP:0002376Developmental regression
9 HP:0200021Down-sloping shoulders
10 HP:0002015Dysphagia
NAMDC:  Dysphagia
HP:0040283
11 HP:0011003High myopia
12 HP:0000218High palate
13 HP:0001385Hip dysplasia
14 HP:0000316Hypertelorism
15 HP:0001931Hypochromic anemia
16 HP:0000668HypodontiaHP:0040283
17 HP:0000829Hypoparathyroidism
18 HP:0000023Inguinal hernia
19 HP:0000343Long philtrum
20 HP:0010511Long toeHP:0040283
21 HP:0002162Low posterior hairline
22 HP:0000369Low-set ears
23 HP:0001935Microcytic anemia
24 HP:0000347MicrognathiaHP:0040283
25 HP:0001653Mitral regurgitationHP:0040283
26 HP:0011343Moderate global developmental delay
27 HP:0000938Osteopenia
28 HP:0000767Pectus excavatumHP:0040283
29 HP:0000384Preauricular skin tagHP:0040283
30 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
31 HP:0009536Short 2nd finger
32 HP:0000319Smooth philtrum
33 HP:0005338Sparse lateral eyebrow
34 HP:0001159SyndactylyHP:0040283
35 HP:0001182Tapered fingerHP:0040283
36 HP:0000465Webbed neck
37 HP:0000154Wide mouth
38 HP:0000431Wide nasal bridge
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_005853.6(IRX5):c.237_239CTC[1] (p.Ser81del)10265IRX5Uncertain significancers776389982RCV000414870; NMONDO:MONDO:0012634,MedGen:C1970027,OMIM:611174, Orphanet:314555165496534754965349TCTCT16:g.54965347_54965349delClinGen:CA8059129C1970027 611174 Hamamy syndrome;
NM_005853.6(IRX5):c.448G>C (p.Ala150Pro)10265IRX5Pathogenicrs387907198RCV000024602; NMONDO:MONDO:0012634,MedGen:C1970027,OMIM:611174, Orphanet:314555165496660854966608GC16:g.54966608G>CClinGen:CA023275,UniProtKB:P78411#VAR_068483,OMIM:606195.0002C1970027 611174 Hamamy syndrome;
NM_005853.6(IRX5):c.498C>A (p.Asn166Lys)10265IRX5Pathogenicrs786200931RCV000024601; NMONDO:MONDO:0012634,MedGen:C1970027,OMIM:611174, Orphanet:314555165496665854966658CA16:g.54966658C>AClinGen:CA023277,UniProtKB:P78411#VAR_068484,OMIM:606195.0001
NM_005853.6(IRX5):c.1362_1368delinsGT (p.Lys455fs)10265IRX5Pathogenicrs1057518725RCV000415174; NMONDO:MONDO:0012634,MedGen:C1970027,OMIM:611174, Orphanet:314555165496769554967701TAAAGACGT16:g.54967696_54967701delClinGen:CA16043689
MSeqDR Portal