EVPLS
MCID: EVN003
MIFTS: 25

Even-Plus Syndrome (EVPLS)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Even-Plus Syndrome

MalaCards integrated aliases for Even-Plus Syndrome:

Name: Even-Plus Syndrome 57 59 75 6
Epiphyseal and Vertebral Dysplasia, Microtia, and Flat Nose, Plus Associated Malformations 57 75
Evpls 57 75
Epiphysial-Vertebral-Ear Dysplasia-Nose-Plus Associated Findings Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 3 patients from 2 families (last curated march 2016)


HPO:

32
even-plus syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Even-Plus Syndrome

OMIM : 57 EVEN-PLUS syndrome is characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. The features overlap those reported in patients with CODAS syndrome (600373; Royer-Bertrand et al., 2015). (616854)

MalaCards based summary : Even-Plus Syndrome, also known as epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations, is related to chronic interstitial cystitis and anemia, sideroblastic, 4. An important gene associated with Even-Plus Syndrome is HSPA9 (Heat Shock Protein Family A (Hsp70) Member 9). Affiliated tissues include bone and kidney, and related phenotypes are short neck and agenesis of corpus callosum

UniProtKB/Swiss-Prot : 75 Even-plus syndrome: An autosomal recessive syndrome characterized by epiphyseal and vertebral dysplasia, prenatal-onset short stature, a distinct craniofacial phenotype with microtia, a flat facial profile with flat nose and triangular nares, cardiac malformations, and additional findings such as anal atresia, hypodontia, aplasia cutis, and others.

Related Diseases for Even-Plus Syndrome

Diseases related to Even-Plus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chronic interstitial cystitis 10.1
2 anemia, sideroblastic, 4 9.7 HSPA9 LOC105379193

Symptoms & Phenotypes for Even-Plus Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

Head And Neck Mouth:
high palate

Skeletal Skull:
brachycephaly

Genitourinary Ureters:
vesicoureteral reflux

Skin Nails Hair Hair:
sparse hair
lateral hair whorls

Cardiovascular Heart:
patent foramen ovale
atrial septal defect, small
aneurysmal septum

Head And Neck Nose:
hypoplastic nose
bifid tip of nose
triangular nares

Skeletal Spine:
coronal vertebral clefts
agenesis of the coccyx

Genitourinary Kidneys:
hypoplastic kidney

Head And Neck Ears:
severe microtia or anotia, with open ear ducts

Skeletal Pelvis:
dysplastic acetabula

Neurologic Central Nervous System:
agenesis of corpus callosum
developmental delay, mild to moderate
separated frontal horns

Head And Neck Head:
brachycephaly
aplasia cutis congenita on skull vertex

Abdomen Gastrointestinal:
anal atresia

Head And Neck Eyes:
synophrys
arched eyebrows

Skin Nails Hair Skin:
atopic dermatitis
aplasia cutis congenita on skull vertex

Head And Neck Face:
midface hypoplasia

Skeletal Limbs:
short long bones
dysplastic femoral heads
bifid distal femurs
epiphyseal dysplasia of distal femur
epiphyseal dysplasia of proximal tibia
more
Genitourinary Bladder:
urinary tract infection

Growth Height:
short stature, prenatal onset

Head And Neck Teeth:
single upper central incisor
absence of some lateral incisors


Clinical features from OMIM:

616854

Human phenotypes related to Even-Plus Syndrome:

32 (show all 28)
# Description HPO Frequency HPO Source Accession
1 short neck 32 HP:0000470
2 agenesis of corpus callosum 32 HP:0001274
3 high palate 32 HP:0000218
4 global developmental delay 32 very rare (1%) HP:0001263
5 short nose 32 HP:0003196
6 microtia 32 very rare (1%) HP:0008551
7 brachycephaly 32 HP:0000248
8 epiphyseal dysplasia 32 HP:0002656
9 atrial septal defect 32 very rare (1%) HP:0001631
10 depressed nasal ridge 32 very rare (1%) HP:0000457
11 anal atresia 32 very rare (1%) HP:0002023
12 vesicoureteral reflux 32 very rare (1%) HP:0000076
13 renal hypoplasia 32 HP:0000089
14 severe short stature 32 HP:0003510
15 recurrent urinary tract infections 32 HP:0000010
16 hypodontia 32 HP:0000668
17 midface retrusion 32 HP:0011800
18 highly arched eyebrow 32 HP:0002553
19 oligohydramnios 32 HP:0001562
20 synophrys 32 very rare (1%) HP:0000664
21 sparse hair 32 HP:0008070
22 atopic dermatitis 32 HP:0001047
23 patent foramen ovale 32 HP:0001655
24 aplasia cutis congenita 32 very rare (1%) HP:0001057
25 coronal cleft vertebrae 32 HP:0003417
26 bifid nasal tip 32 very rare (1%) HP:0000456
27 dysplastic corpus callosum 32 very rare (1%) HP:0006989
28 dysplasia of the femoral head 32 HP:0010575

Drugs & Therapeutics for Even-Plus Syndrome

Search Clinical Trials , NIH Clinical Center for Even-Plus Syndrome

Genetic Tests for Even-Plus Syndrome

Anatomical Context for Even-Plus Syndrome

MalaCards organs/tissues related to Even-Plus Syndrome:

41
Bone, Kidney

Publications for Even-Plus Syndrome

Articles related to Even-Plus Syndrome:

# Title Authors Year
1
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. ( 26598328 )
2015

Variations for Even-Plus Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Even-Plus Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 HSPA9 p.Arg126Trp VAR_076662 rs751478142
2 HSPA9 p.Tyr128Cys VAR_076663 rs765368797

ClinVar genetic disease variations for Even-Plus Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HSPA9 NM_004134.6(HSPA9): c.376C> T (p.Arg126Trp) single nucleotide variant Pathogenic rs751478142 GRCh38 Chromosome 5, 138570994: 138570994
2 HSPA9 NM_004134.6(HSPA9): c.376C> T (p.Arg126Trp) single nucleotide variant Pathogenic rs751478142 GRCh37 Chromosome 5, 137906683: 137906683
3 HSPA9 NM_004134.6(HSPA9): c.383A> G (p.Tyr128Cys) single nucleotide variant Pathogenic rs765368797 GRCh38 Chromosome 5, 138570987: 138570987
4 HSPA9 NM_004134.6(HSPA9): c.383A> G (p.Tyr128Cys) single nucleotide variant Pathogenic rs765368797 GRCh37 Chromosome 5, 137906676: 137906676
5 HSPA9 NM_004134.6(HSPA9): c.882_883delAG (p.Val296Terfs) deletion Pathogenic rs772570880 GRCh38 Chromosome 5, 138566715: 138566716
6 HSPA9 NM_004134.6(HSPA9): c.882_883delAG (p.Val296Terfs) deletion Pathogenic rs772570880 GRCh37 Chromosome 5, 137902404: 137902405

Expression for Even-Plus Syndrome

Search GEO for disease gene expression data for Even-Plus Syndrome.

Pathways for Even-Plus Syndrome

GO Terms for Even-Plus Syndrome

Sources for Even-Plus Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....