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 58 60 76 6
Epiphyseal and Vertebral Dysplasia, Microtia, and Flat Nose, Plus Associated Malformations 58 76
Evpls 58 76
Epiphysial-Vertebral-Ear Dysplasia-Nose-Plus Associated Findings Syndrome 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
even-plus syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Even-Plus Syndrome

OMIM : 58 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 global developmental delay and microtia

UniProtKB/Swiss-Prot : 76 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 10.2
2 anemia, sideroblastic, 4 9.5 HSPA9 LOC105379193

Symptoms & Phenotypes for Even-Plus Syndrome

Human phenotypes related to Even-Plus Syndrome:

33 (show all 28)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 33 very rare (1%) HP:0001263
2 microtia 33 very rare (1%) HP:0008551
3 atrial septal defect 33 very rare (1%) HP:0001631
4 depressed nasal ridge 33 very rare (1%) HP:0000457
5 anal atresia 33 very rare (1%) HP:0002023
6 vesicoureteral reflux 33 very rare (1%) HP:0000076
7 synophrys 33 very rare (1%) HP:0000664
8 aplasia cutis congenita 33 very rare (1%) HP:0001057
9 bifid nasal tip 33 very rare (1%) HP:0000456
10 dysplastic corpus callosum 33 very rare (1%) HP:0006989
11 short neck 33 HP:0000470
12 agenesis of corpus callosum 33 HP:0001274
13 high palate 33 HP:0000218
14 short nose 33 HP:0003196
15 brachycephaly 33 HP:0000248
16 epiphyseal dysplasia 33 HP:0002656
17 renal hypoplasia 33 HP:0000089
18 severe short stature 33 HP:0003510
19 recurrent urinary tract infections 33 HP:0000010
20 hypodontia 33 HP:0000668
21 midface retrusion 33 HP:0011800
22 highly arched eyebrow 33 HP:0002553
23 oligohydramnios 33 HP:0001562
24 sparse hair 33 HP:0008070
25 atopic dermatitis 33 HP:0001047
26 patent foramen ovale 33 HP:0001655
27 coronal cleft vertebrae 33 HP:0003417
28 dysplasia of the femoral head 33 HP:0010575

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
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:

76
# 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.882_883delAG (p.Val296Terfs) deletion Pathogenic rs772570880 GRCh37 Chromosome 5, 137902404: 137902405
2 HSPA9 NM_004134.7(HSPA9): c.376C> T (p.Arg126Trp) single nucleotide variant Pathogenic rs751478142 GRCh38 Chromosome 5, 138570994: 138570994
3 HSPA9 NM_004134.7(HSPA9): c.376C> T (p.Arg126Trp) single nucleotide variant Pathogenic rs751478142 GRCh37 Chromosome 5, 137906683: 137906683
4 HSPA9 NM_004134.7(HSPA9): c.383A> G (p.Tyr128Cys) single nucleotide variant Pathogenic rs765368797 GRCh38 Chromosome 5, 138570987: 138570987
5 HSPA9 NM_004134.7(HSPA9): c.383A> G (p.Tyr128Cys) single nucleotide variant Pathogenic rs765368797 GRCh37 Chromosome 5, 137906676: 137906676
6 HSPA9 NM_004134.6(HSPA9): c.882_883delAG (p.Val296Terfs) deletion Pathogenic rs772570880 GRCh38 Chromosome 5, 138566715: 138566716

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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