NNMS
MCID: NVL003
MIFTS: 42
|
Nivelon-Nivelon-Mabille Syndrome (NNMS)
Categories:
Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
|
|
MalaCards integrated aliases for Nivelon-Nivelon-Mabille Syndrome:
Characteristics:Orphanet epidemiological data:58
chondrodysplasia-disorder of sex development syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Eye diseases Reproductive diseases Bone diseases Endocrine diseases
ICD10:
33
Orphanet: 58
![]() ![]() ![]() ![]() ![]() |
KEGG :
36
Nivelon-Nivelon-Mabille syndrome (NNMS), previously known as chondrodysplasia-pseudohermaphrodism syndrome, is a rare autosomal recessive syndrome characterized by microcephaly, early infantile onset seizures, and cerebellar vermis hypoplasia. It has been reported that mutations in the hedgehog acyl-transferase gene (HHAT) cause NNMS.
MalaCards based summary : Nivelon-Nivelon-Mabille Syndrome, also known as chondrodysplasia-pseudohermaphroditism syndrome, is related to ancylostomiasis and 45,x/46,xy mixed gonadal dysgenesis. An important gene associated with Nivelon-Nivelon-Mabille Syndrome is HHAT (Hedgehog Acyltransferase), and among its related pathways/superpathways are Endochondral Ossification and Hedgehog signaling pathway (KEGG). Affiliated tissues include eye, bone and brain, and related phenotypes are intellectual disability and macrotia Disease Ontology : 12 A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia. OMIM® : 57 Nivelon-Nivelon-Mabille syndrome (NNMS) is characterized by progressive microcephaly, vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia (Abdel-Salam et al., 2019). (600092) (Updated 05-Mar-2021) |
Human phenotypes related to Nivelon-Nivelon-Mabille Syndrome:58 31 (show all 29)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:600092 (Updated 05-Mar-2021)MGI Mouse Phenotypes related to Nivelon-Nivelon-Mabille Syndrome:46
|
Cochrane evidence based reviews: nivelon nivelon mabille syndrome |
MalaCards organs/tissues related to Nivelon-Nivelon-Mabille Syndrome:40
Eye,
Bone,
Brain
|
Articles related to Nivelon-Nivelon-Mabille Syndrome:
|
ClinVar genetic disease variations for Nivelon-Nivelon-Mabille Syndrome:6
|
Search
GEO
for disease gene expression data for Nivelon-Nivelon-Mabille Syndrome.
|
Cellular components related to Nivelon-Nivelon-Mabille Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Nivelon-Nivelon-Mabille Syndrome according to GeneCards Suite gene sharing:(show all 26)
Molecular functions related to Nivelon-Nivelon-Mabille Syndrome according to GeneCards Suite gene sharing:
|
|