Even-Plus Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Bone diseases Ear diseases Smell/Taste diseases

See all MalaCards categories (disease lists)

Orphanet: ⁶⁰

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 616854

MeSH ⁴⁵ D000015

Orphanet ⁶⁰ ORPHA496751

MedGen ⁴³ C4225180 CN235493

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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.

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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

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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

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Drugs & Therapeutics for Even-Plus Syndrome

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

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Genetic Tests for Even-Plus Syndrome

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Anatomical Context for Even-Plus Syndrome

MalaCards organs/tissues related to Even-Plus Syndrome:

⁴²

Bone, Kidney

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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 )	Royer-Bertrand B....Superti-Furga A.	2015

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Genes for Even-Plus Syndrome

Genes related to Even-Plus Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HSPA9	Heat Shock Protein Family A (Hsp70) Member 9	Protein Coding	1587.03	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ GeneCards inferred via : Disorders Publications Variants (show sections)	26598328
2	LOC105379193	Uncharacterized LOC105379193	RNA Gene	7.91	GeneCards inferred via : Variants (show sections)

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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

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Expression for Even-Plus Syndrome

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

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Pathways for Even-Plus Syndrome

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GO Terms for Even-Plus Syndrome

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Sources for Even-Plus Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

¹⁷ EFO

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¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Even-Plus Syndrome (EVPLS)

Aliases & Classifications for Even-Plus Syndrome

MalaCards integrated aliases for Even-Plus Syndrome:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Even-Plus Syndrome

Related Diseases for Even-Plus Syndrome

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

Symptoms & Phenotypes for Even-Plus Syndrome

Human phenotypes related to Even-Plus Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Even-Plus Syndrome

Genetic Tests for Even-Plus Syndrome

Anatomical Context for Even-Plus Syndrome

MalaCards organs/tissues related to Even-Plus Syndrome:

Publications for Even-Plus Syndrome

Articles related to Even-Plus Syndrome:

Genes for Even-Plus Syndrome

Genes related to Even-Plus Syndrome (1 elite genes):

Variations for Even-Plus Syndrome

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

ClinVar genetic disease variations for Even-Plus Syndrome:

Expression for Even-Plus Syndrome

Pathways for Even-Plus Syndrome

GO Terms for Even-Plus Syndrome

Sources for Even-Plus Syndrome