HMLR1
MCID: HML047
MIFTS: 38
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Heimler Syndrome 1 (HMLR1)
Categories:
Ear diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Oral diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Heimler Syndrome 1:
Characteristics:Orphanet epidemiological data:58
deafness-enamel hypoplasia-nail defects syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases Anatomical: Ear diseases Skin diseases Oral diseases
Orphanet: 58
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GARD :
20
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3220DefinitionDeafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.Visit the Orphanet disease page for more resources.
MalaCards based summary : Heimler Syndrome 1, also known as deafness enamel hypoplasia nail defects, is related to peroxisome biogenesis disorder 1a and amelogenesis imperfecta. An important gene associated with Heimler Syndrome 1 is PEX1 (Peroxisomal Biogenesis Factor 1), and among its related pathways/superpathways is Peroxisome. Related phenotypes are intellectual disability and diabetes mellitus Disease Ontology : 12 A peroxisomal biogenesis disorder that is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has material basis in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21. OMIM® : 57 Heimler syndrome-1 (HMLR1), which represents the mildest end of the peroxisomal biogenesis disorder spectrum (see PBD1A, 214100), is a rare autosomal recessive disorder characterized by sensorineural hearing loss, enamel hyoplasia of the secondary dentition, and nail abnormalities (Ratbi et al., 2015). (234580) (Updated 05-Mar-2021) UniProtKB/Swiss-Prot : 73 Heimler syndrome 1: A form of Heimler syndrome, a very mild peroxisome biogenesis disorder characterized by sensorineural hearing loss, amelogenesis imperfecta resulting in enamel hyoplasia of the secondary dentition, nail defects, and occasional or late-onset retinal pigmentation abnormalities. Wikipedia : 74 Heimler syndrome is a rare autosomal recessive condition characterized by sensorineural hearing loss,... more... |
Human phenotypes related to Heimler Syndrome 1:58 31 (show all 39)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:234580 (Updated 05-Mar-2021) |
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Articles related to Heimler Syndrome 1:(show all 13)
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ClinVar genetic disease variations for Heimler Syndrome 1:6 (show all 40)
UniProtKB/Swiss-Prot genetic disease variations for Heimler Syndrome 1:73
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Search
GEO
for disease gene expression data for Heimler Syndrome 1.
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Cellular components related to Heimler Syndrome 1 according to GeneCards Suite gene sharing:
Biological processes related to Heimler Syndrome 1 according to GeneCards Suite gene sharing:
Molecular functions related to Heimler Syndrome 1 according to GeneCards Suite gene sharing:
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