Deafness-enamel hypoplasia-nail defects syndrome

Deafness-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.



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Narrow down the case reports



Total: 3 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 29676688
 Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations.
Wangtiraumnuay N, Alnabi WA, Tsukikawa M, Thau A, Capasso J, Sharony R, Inglehearn CF, Levin AV.
Ophthalmic Genet. 2018;39(3):384-390.
Pigmentary retinopathy
ATPases Associated with Diverse Cellular Activitie... Amelogenesis Imperfecta Child Homo sapiens Male Mutation Nails, Malformed Retrospective Studies
1
(4.0%)		 21366429
(3093430)
 Macular dystrophy in Heimler syndrome.
Lima LH, Barbazetto IA, Chen R, Yannuzzi LA, Tsang SH, Spaide RF.
Ophthalmic Genet. 2011;32(2):97-100.
Macular dystrophy
Adult Amelogenesis Imperfecta Blindness Electroretinography Females Fluorescein Angiography Homo sapiens Nails, Malformed Tomography, Optical Coherence Visual Acuity
1
(4.0%)		 16530715
 Sensorineural deafness, enamel abnormalities and nail abnormalities: a case report of Heimler syndrome in identical twin girls.
Ong KR, Visram S, McKaig S, Brueton LA.
Eur J Med Genet. 2006;49(2):187-93.
Leukonychia
rs34324426
Amelogenesis Imperfecta Child Child, Preschool Females Homo sapiens Nails, Malformed Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 33

HPO ID Term Frequency
HP:0000135 Hypogonadism Very frequent (99-80%)
HP:0000164 Abnormality of the dentition Very frequent (99-80%)
HP:0000365 Hearing impairment Very frequent (99-80%)
HP:0000407 Sensorineural hearing impairment Very frequent (99-80%)
HP:0000492 Abnormal eyelid morphology Very frequent (99-80%)
HP:0000534 Abnormal eyebrow morphology Very frequent (99-80%)
HP:0000614 Abnormal nasolacrimal system morphology Very frequent (99-80%)
HP:0000679 Taurodontia Very frequent (99-80%)
HP:0000682 Abnormality of dental enamel Very frequent (99-80%)
HP:0000819 Diabetes mellitus Very frequent (99-80%)
HP:0001231 Abnormal fingernail morphology Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0003241 External genital hypoplasia Very frequent (99-80%)
HP:0003777 Pili torti Very frequent (99-80%)
HP:0008388 Abnormal toenail morphology Very frequent (99-80%)
HP:0011362 Abnormal hair quantity Very frequent (99-80%)
HP:0045074 Thin eyebrow Very frequent (99-80%)
HP:0100643 Abnormality of nail color Very frequent (99-80%)
HP:0000311 Round face Frequent (79-30%)
HP:0000786 Primary amenorrhea Frequent (79-30%)
HP:0001176 Large hands Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0011675 Arrhythmia Frequent (79-30%)
HP:0000763 Sensory neuropathy Occasional (29-5%)
HP:0000956 Acanthosis nigricans Occasional (29-5%)
HP:0001265 Hyporeflexia Occasional (29-5%)
HP:0002514 Cerebral calcification Occasional (29-5%)
HP:0002750 Delayed skeletal maturation Occasional (29-5%)
HP:0008064 Ichthyosis Occasional (29-5%)
HP:0009830 Peripheral neuropathy Occasional (29-5%)
HP:0009890 High anterior hairline Occasional (29-5%)
HP:0010547 Muscle flaccidity Occasional (29-5%)
HP:0100490 Camptodactyly of finger Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0007754 Macular dystrophy 2


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
PEX1 peroxisomal biogenesis factor 1 5189
PEX6 peroxisomal biogenesis factor 6 5190