MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
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Abnormalities, Multiple (D000015)
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Craniofacial Abnormalities (D019465)
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Foot Deformities, Congenital (D005532)
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Hand Deformities, Congenital (D006228)
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Intellectual Disability (D008607)
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Joint Instability (D007593)
..Starting node
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Van Maldergem Wetzburger Verloes syndrome (C536530)

       Child Nodes:



 Sister Nodes: 
..expandAchard syndrome (C536012)
..expandArterial Tortuosity Syndrome (C565942)
..expandAxenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..expandBrittle cornea syndrome 1 (C536192)
..expandBRITTLE CORNEA SYNDROME 2 (OMIM:614170)
..expandCHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
..expandDaish Hardman Lamont syndrome (C535770)
..expandDesbuquois syndrome (C535943)
..expandDislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism (C563315)
..expandHemangiomatosis, Cutaneous, with Associated Features (C562438)
..expandHypospadias-Mental Retardation Syndrome (C563067)
..expandJaffer Beighton syndrome (C537561)
..expandJoint laxity, familial (C535884)
..expandMegarbane syndrome (C536145)
..expandMental Retardation, Joint Hypermobility, And Skin Laxity, With Or Without Metabolic Abnormalities (C567209)
..expandPanic Disorder with Joint Laxity (C566835)
..expandPatella, Familial Recurrent Dislocation Of (C566816)
..expandSpondyloepimetaphyseal Dysplasia With Joint Laxity (C562968)
..expandSpondyloepiphyseal Dysplasia with Atlantoaxial Instability (C563472)
..expandVan Maldergem Wetzburger Verloes syndrome (C536530)
..expandYoung Simpson syndrome (C536717)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:12612
Name:Van Maldergem Wetzburger Verloes syndrome
Definition:
Alternative IDs:DO:DOID:0060238|OMIM:601390|OMIM:615546
ParentIDs:MESH:D000015|MESH:D005532|MESH:D006228|MESH:D007593|MESH:D008607|MESH:D019465
TreeNumbers:C05.330.495/C536530 |C05.390.408/C536530 |C05.550.521/C536530 |C05.660.207/C536530 |C05.660.585.512.380/C536530 |C05.660.585.988.425/C536530 |C10.597.606.360/C536530 |C16.131.077/C536530 |C16.131.621.207/C536530 |C16.131.621.585.512.500/C536530 |C16.131.621.585.98
Synonyms:Cerebro-facio-articular syndrome |Cerebrofacioarticular syndrome |Cerebro-facio-articular syndrome of Van Maldergem |Van Maldergem syndrome |VAN MALDERGEM SYNDROME 1 |VAN MALDERGEM SYNDROME 2 |VMLDS1 |VMLDS2
Slim Mappings:Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C536530
MeSH: C536530
OMIM: 615546;
MSeqDR LSDB:  
Genes: DCHS1; FAT4;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003577Congenital onset
3 HP:0000413Atresia of the external auditory canal
4 HP:0000048Bifid scrotum
5 HP:0000581Blepharophimosis
6 HP:0030084Clinodactyly
7 HP:0000405Conductive hearing impairment
8 HP:0000028Cryptorchidism
9 HP:0010554Cutaneous finger syndactyly
10 HP:0000689Dental malocclusion
11 HP:0002714Downturned corners of mouth
12 HP:0000286Epicanthus
13 HP:0011968Feeding difficulties
14 HP:0001290Generalized hypotonia
15 HP:0001510Growth delay
NAMDC:  Growth delay
16 HP:0000218High palate
17 HP:0000316Hypertelorism
18 HP:0002079Hypoplasia of the corpus callosum
19 HP:0000327Hypoplasia of the maxilla
20 HP:0000047Hypospadias
21 HP:0001249Intellectual disability
22 HP:0040079Irregular dentition
23 HP:0001388Joint laxity
24 HP:0000272Malar flattening
25 HP:0000347Micrognathia
26 HP:0000054Micropenis
27 HP:0008551Microtia
28 HP:0011800Midface retrusion
29 HP:0000774Narrow chest
30 HP:0000341Narrow forehead
31 HP:0000938Osteopenia
32 HP:0000508Ptosis
NAMDC:  Ptosis
33 HP:0000089Renal hypoplasia
34 HP:0000960Sacral dimple
35 HP:0002650Scoliosis
36 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
37 HP:0010044Short 4th metacarpal
38 HP:0000894Short clavicles
39 HP:0004689Short fourth metatarsal
40 HP:0012745Short palpebral fissure
41 HP:0002652Skeletal dysplasia
42 HP:0001762Talipes equinovarus
43 HP:0010804Tented upper lip vermilion
44 HP:0002779Tracheomalacia
45 HP:0000260Wide anterior fontanel
46 HP:0010537Wide cranial sutures
47 HP:0000431Wide nasal bridge
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001291303.3(FAT4):c.3212T>C (p.Val1071Ala)79633FAT4Uncertain significancers200138872RCV000987470; NMONDO:MONDO:0014242,MedGen:C3809875,OMIM:615546, Orphanet:3146794126240778126240778TC4:g.126240778T>C-
NM_024582.4(FAT4):c.7123G>A (p.Glu2375Lys)79633FAT4Pathogenicrs398122955RCV000074490|RCV000144157; NMONDO:MONDO:0014242,MedGen:C3809875,OMIM:615546, Orphanet:314679|MONDO:MONDO:0014454,MedGen:C4014939,OMIM:616006, Orphanet:21364126355504126355504GA4:g.126355504G>AOMIM:612411.0003,ClinGen:CA145423,UniProtKB:Q6V0I7#VAR_070925C4014939 616006 Hennekam lymphangiectasia-lymphedema syndrome 2;
NM_024582.4(FAT4):c.8015A>T (p.Asp2672Val)79633FAT4Uncertain significancers138655269RCV000481182|RCV000626046; NMedGen:CN517202|MONDO:MONDO:0014242,MedGen:C3809875,OMIM:615546, Orphanet:3146794126370186126370186AT4:g.126370186A>TClinGen:CA3073298CN169374 not specified;
NM_001291303.3(FAT4):c.9279A>C (p.Gln3093His)79633FAT4Uncertain significancers769424345RCV001004886; NMONDO:MONDO:0014242,MedGen:C3809875,OMIM:615546, Orphanet:3146794126371444126371444AC4:g.126371444A>C-
NM_001291303.3(FAT4):c.9313A>G (p.Ser3105Gly)79633FAT4Uncertain significancers764097811RCV001004887; NMONDO:MONDO:0014242,MedGen:C3809875,OMIM:615546, Orphanet:3146794126371478126371478AG4:g.126371478A>G-
NM_024582.4(FAT4):c.9481G>T (p.Glu3161Ter)79633FAT4Pathogenicrs370088878RCV000074491; NMONDO:MONDO:0014242,MedGen:C3809875,OMIM:615546, Orphanet:3146794126371652126371652GT4:g.126371652G>TClinGen:CA145425,OMIM:612411.0004C3809875 615546 Van Maldergem syndrome 2;
NM_001291303.1(FAT4):c.10560G>A (p.Met3520Ile)79633FAT4Uncertain significancers144506470RCV000626045; NMONDO:MONDO:0014242,MedGen:C3809875,OMIM:615546, Orphanet:3146794126372725126372725GA4:g.126372725G>AClinGen:CA3073702C3809875 615546 Van Maldergem syndrome 2;
NM_024582.4(FAT4):c.10571G>A (p.Gly3524Asp)79633FAT4Benignrs1567047RCV000427798|RCV000987471; NMedGen:CN169374|MONDO:MONDO:0014242,MedGen:C3809875,OMIM:615546, Orphanet:3146794126372742126372742GA4:g.126372742G>AClinGen:CA3073706CN169374 not specified;
NM_024582.4(FAT4):c.11455C>T (p.Arg3819Ter)79633FAT4Pathogenicrs398122957RCV000074493; NMONDO:MONDO:0014242,MedGen:C3809875,OMIM:615546, Orphanet:3146794126373626126373626CT4:g.126373626C>TClinGen:CA145429,OMIM:612411.0006C3809875 615546 Van Maldergem syndrome 2;
NM_024582.4(FAT4):c.11618G>A (p.Ser3873Asn)79633FAT4Benignrs12650153RCV000417654|RCV000987472; NMedGen:CN169374|MONDO:MONDO:0014242,MedGen:C3809875,OMIM:615546, Orphanet:3146794126373789126373789GA4:g.126373789G>AClinGen:CA3073887CN169374 not specified;
NM_001291303.1(FAT4):c.11800+1G>T79633FAT4Pathogenicrs963302668RCV000761486; NMONDO:MONDO:0014242,MedGen:C3809875,OMIM:615546, Orphanet:3146794126373966126373966GT4:g.126373966G>T-
NM_024582.4(FAT4):c.12476G>T (p.Cys4159Phe)79633FAT4Pathogenicrs398122953RCV000074488; NMONDO:MONDO:0014242,MedGen:C3809875,OMIM:615546, Orphanet:3146794126400898126400898GT4:g.126400898G>TClinGen:CA145419,UniProtKB:Q6V0I7#VAR_070926,OMIM:612411.0001C3809875 615546 Van Maldergem syndrome 2;
NM_024582.4(FAT4):c.13193G>A (p.Cys4398Tyr)79633FAT4Pathogenicrs398122954RCV000074489; NMONDO:MONDO:0014242,MedGen:C3809875,OMIM:615546, Orphanet:3146794126411170126411170GA4:g.126411170G>AClinGen:CA145421,UniProtKB:Q6V0I7#VAR_070927,OMIM:612411.0002C3809875 615546 Van Maldergem syndrome 2;
NM_024582.4(FAT4):c.13393G>A (p.Val4465Met)79633FAT4Uncertain significancers1215405311RCV000714817|RCV000714818; NMONDO:MONDO:0014242,MedGen:C3809875,OMIM:615546, Orphanet:314679|MONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:21364126411370126411370GA4:g.126411370G>A-
NM_024582.4(FAT4):c.13519G>C (p.Ala4507Pro)79633FAT4Uncertain significancers1553931010RCV000625816; NMONDO:MONDO:0014242,MedGen:C3809875,OMIM:615546, Orphanet:3146794126411496126411496GC4:g.126411496G>CClinGen:CA358136820C3809875 615546 Van Maldergem syndrome 2;
NM_024582.4(FAT4):c.14512_14513del (p.Ser4838fs)79633FAT4Pathogenicrs398122956RCV000074492; NMONDO:MONDO:0014242,MedGen:C3809875,OMIM:615546, Orphanet:3146794126412489126412490ATCA4:g.126412489_126412490delClinGen:CA145428,OMIM:612411.0005C3809875 615546 Van Maldergem syndrome 2;
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