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 ⁵⁷ ⁵⁸ ⁷³ ³⁶ ²⁹ ⁶

Epiphyseal and Vertebral Dysplasia, Microtia, and Flat Nose, Plus Associated Malformations ⁵⁷ ⁷³

Evpls ⁵⁷ ⁷³

Epiphysial-Vertebral-Ear Dysplasia-Nose-Plus Associated Findings Syndrome ⁵⁸

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

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

HPO:

³¹

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: ⁵⁸

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM® ⁵⁷ 616854

KEGG ³⁶ H02343

MeSH ⁴⁴ D000015

Orphanet ⁵⁸ ORPHA496751

MedGen ⁴¹ C4225180 CN235493

Sources

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) (Updated 05-Mar-2021)

MalaCards based summary : Even-Plus Syndrome, also known as epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations, is related to cryptorchidism, unilateral or bilateral and codas syndrome. An important gene associated with Even-Plus Syndrome is HSPA9 (Heat Shock Protein Family A (Hsp70) Member 9). Affiliated tissues include kidney, and related phenotypes are global developmental delay and microtia

KEGG : ³⁶ EVEN-plus (epiphyseal, vertebral, ear, nose, plus associated findings) syndrome is a rare multiple congenital anomalies syndrome. Mutations in the HSPA9 gene, coding for the mitochondrial chaperone mortalin, cause EVEN-plus syndrome.

UniProtKB/Swiss-Prot : ⁷³ 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
1	cryptorchidism, unilateral or bilateral	9.9
2	codas syndrome	9.9
3	hydronephrosis	9.9
4	clubfoot	9.9
5	hypotonia	9.9
6	microtia	9.9

Graphical network of the top 20 diseases related to Even-Plus Syndrome:

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Symptoms & Phenotypes for Even-Plus Syndrome

Human phenotypes related to Even-Plus Syndrome:

³¹ (show all 28)

#	Description	HPO Frequency	HPO Source Accession
1	global developmental delay ³¹	very rare (1%)	HP:0001263
2	microtia ³¹	very rare (1%)	HP:0008551
3	atrial septal defect ³¹	very rare (1%)	HP:0001631
4	depressed nasal ridge ³¹	very rare (1%)	HP:0000457
5	anal atresia ³¹	very rare (1%)	HP:0002023
6	vesicoureteral reflux ³¹	very rare (1%)	HP:0000076
7	synophrys ³¹	very rare (1%)	HP:0000664
8	aplasia cutis congenita ³¹	very rare (1%)	HP:0001057
9	bifid nasal tip ³¹	very rare (1%)	HP:0000456
10	dysplastic corpus callosum ³¹	very rare (1%)	HP:0006989
11	agenesis of corpus callosum ³¹		HP:0001274
12	high palate ³¹		HP:0000218
13	short neck ³¹		HP:0000470
14	short nose ³¹		HP:0003196
15	brachycephaly ³¹		HP:0000248
16	epiphyseal dysplasia ³¹		HP:0002656
17	highly arched eyebrow ³¹		HP:0002553
18	renal hypoplasia ³¹		HP:0000089
19	recurrent urinary tract infections ³¹		HP:0000010
20	hypodontia ³¹		HP:0000668
21	midface retrusion ³¹		HP:0011800
22	sparse hair ³¹		HP:0008070
23	oligohydramnios ³¹		HP:0001562
24	severe short stature ³¹		HP:0003510
25	coronal cleft vertebrae ³¹		HP:0003417
26	patent foramen ovale ³¹		HP:0001655
27	atopic dermatitis ³¹		HP:0001047
28	dysplasia of the femoral head ³¹		HP:0010575

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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

Head And Neck Neck:
short neck

Skeletal Skull:
brachycephaly

Genitourinary Ureters:
vesicoureteral reflux

Skin Nails Hair Hair:
sparse hair
lateral hair whorls

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

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

Head And Neck Mouth:
high palate

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

Abdomen Gastrointestinal:
anal atresia

Head And Neck Eyes:
synophrys
arched eyebrows

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

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 (Updated 05-Mar-2021)

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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

Genetic tests related to Even-Plus Syndrome:

#	Genetic test	Affiliating Genes
1	Even-Plus Syndrome ²⁹	HSPA9

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Anatomical Context for Even-Plus Syndrome

MalaCards organs/tissues related to Even-Plus Syndrome:

⁴⁰

Kidney

Sources

Publications for Even-Plus Syndrome

Articles related to Even-Plus Syndrome:

#	Title	Authors	PMID	Year
1	Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. ⁶ ⁵⁷ ⁶¹	Royer-Bertrand B...Superti-Furga A	26598328	2015
2	Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome? ⁵⁷	Amiel J...Lyonnet S	10424819	1999
3	EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction. ⁶¹	Younger G...Torres-Martinez W	32869452	2020
4	Biophysical Consequences of EVEN-PLUS Syndrome Mutations for the Function of Mortalin. ⁶¹	Moseng MA...Page RC	30933555	2019
5	Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease. ⁶¹	Mierzewska H...Ploski R	27102849	2017
6	Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease. ⁶¹	Alfadhel M...Hundallah K	28064324	2017

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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	PubMed IDs
1	HSPA9	Heat Shock Protein Family A (Hsp70) Member 9	Protein Coding	1676.53	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Variants (show sections)	26598328

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Variations for Even-Plus Syndrome

ClinVar genetic disease variations for Even-Plus Syndrome:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	HSPA9	NM_004134.7(HSPA9):c.383A>G (p.Tyr128Cys)	SNV	Pathogenic	224329	rs765368797	5:137906676-137906676	5:138570987-138570987
2	HSPA9	NM_004134.7(HSPA9):c.376C>T (p.Arg126Trp)	SNV	Pathogenic	224328	rs751478142	5:137906683-137906683	5:138570994-138570994
3	HSPA9	NM_004134.7(HSPA9):c.882_883del (p.Gly295_Val296insTer)	Deletion	Pathogenic	224330	rs772570880	5:137902404-137902405	5:138566715-138566716

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

⁷³

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

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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

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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:

Graphical network of the top 20 diseases related to Even-Plus Syndrome:

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

Genetic tests related to 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

ClinVar genetic disease variations for Even-Plus Syndrome:

UniProtKB/Swiss-Prot 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