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 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:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 616854

Orphanet ⁵⁹ ORPHA496751

MedGen ⁴² C4225180 CN235493

MeSH ⁴⁴ D000015

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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 thyroid cancer. 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 recurrent urinary tract infections and vesicoureteral reflux

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.

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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	10.0
2	thyroid cancer	9.9
3	thyroiditis	9.9
4	skeletal dysplasias	9.8
5	anemia, sideroblastic, 4	9.0	HSPA9 LOC105379193

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

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

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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:

⁴¹

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	1587.26	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	26598328
2	LOC105379193	Uncharacterized LOC105379193	RNA Gene	7.99	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:

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

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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

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⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

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²⁰ GeneAnalytics

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia