EVPLS
MCID: EVN003
MIFTS: 27
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Even-Plus Syndrome (EVPLS)
Categories:
Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Smell/Taste diseases
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MalaCards integrated aliases for Even-Plus Syndrome:
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:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Bone diseases Ear diseases Smell/Taste diseases
Orphanet: 58
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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. |
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:![]() |
Human phenotypes related to Even-Plus Syndrome:31 (show all 28)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:616854 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Even-Plus Syndrome:40
Kidney
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Articles related to Even-Plus Syndrome:
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ClinVar genetic disease variations for Even-Plus Syndrome:6
UniProtKB/Swiss-Prot genetic disease variations for Even-Plus Syndrome:73
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Search
GEO
for disease gene expression data for Even-Plus Syndrome.
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