HMLR1
MCID: HML047
MIFTS: 24
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Heimler Syndrome 1 (HMLR1)
Categories:
Ear diseases, Genetic diseases
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MalaCards integrated aliases for Heimler Syndrome 1:
Characteristics:HPO:32Classifications: |
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)
MalaCards based summary : Heimler Syndrome 1, also known as hearing loss, sensorineural, with enamel hypoplasia and nail defects, is related to deafness enamel hypoplasia nail defects and heimler syndrome 2. An important gene associated with Heimler Syndrome 1 is PEX1 (Peroxisomal Biogenesis Factor 1). Related phenotypes are macular dystrophy and sensorineural hearing impairment UniProtKB/Swiss-Prot : 74 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. |
Diseases in the Heimler Syndrome 2 family:
Diseases related to Heimler Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Heimler Syndrome 1:![]() |
Human phenotypes related to Heimler Syndrome 1:32
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:234580 |
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Articles related to Heimler Syndrome 1:(show all 11)
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ClinVar genetic disease variations for Heimler Syndrome 1:6 (show all 17)
UniProtKB/Swiss-Prot genetic disease variations for Heimler Syndrome 1:74
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Search
GEO
for disease gene expression data for Heimler Syndrome 1.
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