HMLR1
MCID: HML047
MIFTS: 24

Heimler Syndrome 1 (HMLR1)

Categories: Ear diseases, Genetic diseases

Aliases & Classifications for Heimler Syndrome 1

MalaCards integrated aliases for Heimler Syndrome 1:

Name: Heimler Syndrome 1 56 73
Hearing Loss, Sensorineural, with Enamel Hypoplasia and Nail Defects 56 73
Deafness Enamel Hypoplasia Nail Defects 73 71
Peroxisome Biogenesis Disorder 1c 56 73
Hmlr1 56 73
Pbd1c 56 73
Sensorineural Hearing Loss, Enamel Hypoplasia, and Nail Abnormalities 73
Peroxisome Biogenesis Disorder 1c; Pbd1c 56
Heimler Syndrome, Type 1 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
heimler syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 234580
OMIM Phenotypic Series 56 PS214100
UMLS 71 C1856186

Summaries for Heimler Syndrome 1

OMIM : 56 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 : 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.

Related Diseases for Heimler Syndrome 1

Diseases in the Heimler Syndrome 1 family:

Heimler Syndrome 2

Diseases related to Heimler Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 deafness enamel hypoplasia nail defects 13.0
2 heimler syndrome 2 11.3
3 peroxisome biogenesis disorder 1a 10.3
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
5 sensorineural hearing loss 10.3
6 zellweger syndrome 10.3

Graphical network of the top 20 diseases related to Heimler Syndrome 1:



Diseases related to Heimler Syndrome 1

Symptoms & Phenotypes for Heimler Syndrome 1

Human phenotypes related to Heimler Syndrome 1:

31
# Description HPO Frequency HPO Source Accession
1 macular dystrophy 31 occasional (7.5%) HP:0007754
2 sensorineural hearing impairment 31 HP:0000407
3 amelogenesis imperfecta 31 HP:0000705
4 hypoplasia of dental enamel 31 HP:0006297
5 leukonychia 31 HP:0001820

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
sensorineural hearing loss

Head And Neck Teeth:
normal primary teeth
amelogenesis imperfecta (secondary teeth)

Head And Neck Eyes:
retinal pigmentation abnormalities (in some patients)
macular dystrophy (rare)

Skin Nails Hair Nails:
beau's lines (fingernails and toenails)
punctate leukonychia

Clinical features from OMIM:

234580

Drugs & Therapeutics for Heimler Syndrome 1

Search Clinical Trials , NIH Clinical Center for Heimler Syndrome 1

Genetic Tests for Heimler Syndrome 1

Anatomical Context for Heimler Syndrome 1

Publications for Heimler Syndrome 1

Articles related to Heimler Syndrome 1:

# Title Authors PMID Year
1
Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs. 61 56 6
2063923 1991
2
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 56 6
26387595 2015
3
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 6
19105186 2009
4
Peroxisome biogenesis disorders. 6
17055079 2006
5
Sensorineural hearing loss and enamel hypoplasia with subtle nail findings: another family with Heimler's syndrome. 56
12514367 2003
6
Amelogenesis imperfecta, sensorineural hearing loss, and Beau's lines, a second case report of Heimler's syndrome. 56
10636745 1999
7
Identification of a common PEX1 mutation in Zellweger syndrome. 6
10447258 1999
8
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 6
9398847 1997
9
Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. 6
1301993 1992

Variations for Heimler Syndrome 1

ClinVar genetic disease variations for Heimler Syndrome 1:

6 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PEX1 NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro)SNV Pathogenic 217429 rs370483961 7:92136369-92136369 7:92507055-92507055
2 PEX1 NM_000466.3(PEX1):c.1239+1G>TSNV Pathogenic 217430 rs756876301 7:92146589-92146589 7:92517275-92517275
3 PEX1 NM_000466.3(PEX1):c.3750G>A (p.Trp1250Ter)SNV Pathogenic 217431 rs863225085 7:92118624-92118624 7:92489310-92489310
4 PEX1 NM_000466.3(PEX1):c.1792del (p.Thr598fs)deletion Pathogenic 224324 rs886037783 7:92136319-92136319 7:92507005-92507005
5 PEX1 NM_000466.3(PEX1):c.3379dup (p.Arg1127fs)duplication Pathogenic 203390 rs794729652 7:92120644-92120645 7:92491330-92491331
6 PEX1 NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)SNV Pathogenic 7516 rs61750420 7:92130876-92130876 7:92501562-92501562
7 PEX1 NM_000466.3(PEX1):c.2922del (p.Leu974fs)deletion Pathogenic 371696 rs762324548 7:92123805-92123805 7:92494491-92494491
8 PEX1 NM_000466.3(PEX1):c.2097dup (p.Ile700fs)duplication Pathogenic 7519 rs61750415 7:92132483-92132484 7:92503169-92503170
9 PEX1 NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)SNV Pathogenic/Likely pathogenic 495880 rs61750428 7:92123645-92123645 7:92494331-92494331
10 PEX1 NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)SNV Likely pathogenic 7517 rs121434455 7:92134126-92134126 7:92504812-92504812
11 PEX1 NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)SNV Conflicting interpretations of pathogenicity 224325 rs61750427 7:92123671-92123671 7:92494357-92494357
12 PEX1 NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp)SNV Uncertain significance 217428 rs863225084 7:92132467-92132467 7:92503153-92503153
13 PEX1 NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn)SNV Uncertain significance 498412 rs143273433 7:92143272-92143272 7:92513958-92513958
14 PEX1 NM_000466.3(PEX1):c.254G>A (p.Gly85Glu)SNV Uncertain significance 502318 rs771224088 7:92151435-92151435 7:92522121-92522121
15 PEX1 NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys)SNV Uncertain significance 548004 rs553001596 7:92118618-92118618 7:92489304-92489304
16 PEX1 NM_000466.3(PEX1):c.2876G>C (p.Arg959Pro)SNV Uncertain significance 587523 rs773206107 7:92123851-92123851 7:92494537-92494537
17 PEX1 NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly)SNV Uncertain significance 282718 rs182452430 7:92119161-92119161 7:92489847-92489847
18 PEX1 NM_000466.3(PEX1):c.2750C>T (p.Ala917Val)SNV Uncertain significance 288721 rs371327573 7:92126060-92126060 7:92496746-92496746
19 PEX1 NM_000466.3(PEX1):c.665C>T (p.Thr222Ile)SNV Uncertain significance 197673 rs773922257 7:92147164-92147164 7:92517850-92517850

UniProtKB/Swiss-Prot genetic disease variations for Heimler Syndrome 1:

73
# Symbol AA change Variation ID SNP ID
1 PEX1 p.Arg581Pro VAR_074108 rs370483961
2 PEX1 p.Leu705Trp VAR_074109 rs863225084
3 PEX1 p.Ile989Thr VAR_077503 rs61750427

Expression for Heimler Syndrome 1

Search GEO for disease gene expression data for Heimler Syndrome 1.

Pathways for Heimler Syndrome 1

GO Terms for Heimler Syndrome 1

Sources for Heimler Syndrome 1

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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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