HMLR2
MCID: HML046
MIFTS: 18

Heimler Syndrome 2 (HMLR2)

Categories: Ear diseases, Genetic diseases

Aliases & Classifications for Heimler Syndrome 2

MalaCards integrated aliases for Heimler Syndrome 2:

Name: Heimler Syndrome 2 58 76 30 6
Peroxisome Biogenesis Disorder 4c 58 76
Hmlr2 58 76
Pbd4c 58 76
Peroxisome Biogenesis Disorder 4c; Pbd4c 58
Heimler Syndrome, Type 2 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on a report of 2 monozygotic twin girls (last curated october 2015)


HPO:

33
heimler syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Heimler Syndrome 2

OMIM : 58 Heimler syndrome, 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 hypoplasia of the secondary dentition, and nail abnormalities (Ratbi et al., 2015). For a discussion of genetic heterogeneity of Heimler syndrome, see HMLR1 (234580). (616617)

MalaCards based summary : Heimler Syndrome 2, is also known as peroxisome biogenesis disorder 4c. An important gene associated with Heimler Syndrome 2 is PEX6 (Peroxisomal Biogenesis Factor 6). Related phenotypes are pes planus and dental crowding

UniProtKB/Swiss-Prot : 76 Heimler syndrome 2: 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 2

Diseases in the Heimler Syndrome 2 family:

Heimler Syndrome 1

Symptoms & Phenotypes for Heimler Syndrome 2

Human phenotypes related to Heimler Syndrome 2:

33
# Description HPO Frequency HPO Source Accession
1 pes planus 33 HP:0001763
2 dental crowding 33 HP:0000678
3 leukonychia 33 HP:0001820

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
pes planus
congenital club feet

Neurologic Central Nervous System:
normal intellectual development

Head And Neck Ears:
sensorineural hearing loss in early childhood

Skeletal Hands:
slightly broad thumbs
leukonychia of fingernails

Skin Nails Hair Nails:
leukonychia
beau lines on toenails

Head And Neck Teeth:
dental overcrowding
hypoplastic enamel of secondary dentition
hypoplasia or hypocalcification of lower canines, premolars, and molars
hypoplasia or hypocalcification of upper second and third molars
enlarged pulp chambers (taurodontism) of maxillary molars

Head And Neck Eyes:
retinal pigmentation abnormalities

Clinical features from OMIM:

616617

Drugs & Therapeutics for Heimler Syndrome 2

Search Clinical Trials , NIH Clinical Center for Heimler Syndrome 2

Genetic Tests for Heimler Syndrome 2

Genetic tests related to Heimler Syndrome 2:

# Genetic test Affiliating Genes
1 Heimler Syndrome 2 30 PEX6

Anatomical Context for Heimler Syndrome 2

Publications for Heimler Syndrome 2

Variations for Heimler Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Heimler Syndrome 2:

76
# Symbol AA change Variation ID SNP ID
1 PEX6 p.Pro274Leu VAR_058382 rs61753219
2 PEX6 p.Arg644Trp VAR_074110 rs769896492
3 PEX6 p.Thr572Ile VAR_077509 rs61753224
4 PEX6 p.Cys905Phe VAR_077510 rs886037782

ClinVar genetic disease variations for Heimler Syndrome 2:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX6 NM_000287.3(PEX6): c.1802G> A (p.Arg601Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34324426 GRCh37 Chromosome 6, 42935188: 42935188
2 PEX6 NM_000287.3(PEX6): c.1802G> A (p.Arg601Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34324426 GRCh38 Chromosome 6, 42967450: 42967450
3 PEX6 NM_000287.3(PEX6): c.821C> T (p.Pro274Leu) single nucleotide variant Pathogenic/Likely pathogenic rs61753219 GRCh37 Chromosome 6, 42946068: 42946068
4 PEX6 NM_000287.3(PEX6): c.821C> T (p.Pro274Leu) single nucleotide variant Pathogenic/Likely pathogenic rs61753219 GRCh38 Chromosome 6, 42978330: 42978330
5 PEX6 NM_000287.3(PEX6): c.1930C> T (p.Arg644Trp) single nucleotide variant Pathogenic rs769896492 GRCh37 Chromosome 6, 42934551: 42934551
6 PEX6 NM_000287.3(PEX6): c.1930C> T (p.Arg644Trp) single nucleotide variant Pathogenic rs769896492 GRCh38 Chromosome 6, 42966813: 42966813
7 PEX6 NM_000287.3(PEX6): c.1841delT (p.Leu614Argfs) deletion Likely pathogenic rs863225083 GRCh37 Chromosome 6, 42935149: 42935149
8 PEX6 NM_000287.3(PEX6): c.1841delT (p.Leu614Argfs) deletion Likely pathogenic rs863225083 GRCh38 Chromosome 6, 42967411: 42967411
9 PEX6 NM_000287.3(PEX6): c.2714G> T (p.Cys905Phe) single nucleotide variant Pathogenic rs886037782 GRCh38 Chromosome 6, 42964882: 42964882
10 PEX6 NM_000287.3(PEX6): c.2714G> T (p.Cys905Phe) single nucleotide variant Pathogenic rs886037782 GRCh37 Chromosome 6, 42932620: 42932620
11 PEX6 NM_000287.3(PEX6): c.1715C> T (p.Thr572Ile) single nucleotide variant Pathogenic rs61753224 GRCh38 Chromosome 6, 42967537: 42967537
12 PEX6 NM_000287.3(PEX6): c.1715C> T (p.Thr572Ile) single nucleotide variant Pathogenic rs61753224 GRCh37 Chromosome 6, 42935275: 42935275
13 PEX6 NM_000287.3(PEX6): c.1314_1321delGGAGGCCT (p.Glu439Glyfs) deletion Pathogenic rs267608216 GRCh38 Chromosome 6, 42969714: 42969721
14 PEX6 NM_000287.3(PEX6): c.1314_1321delGGAGGCCT (p.Glu439Glyfs) deletion Pathogenic rs267608216 GRCh37 Chromosome 6, 42937452: 42937459
15 PEX6 NM_000287.3(PEX6): c.654C> G (p.Phe218Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs886037779 GRCh38 Chromosome 6, 42978497: 42978497
16 PEX6 NM_000287.3(PEX6): c.654C> G (p.Phe218Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs886037779 GRCh37 Chromosome 6, 42946235: 42946235
17 PEX6 NM_000287.3(PEX6): c.296G> T (p.Arg99Leu) single nucleotide variant Pathogenic rs886037781 GRCh38 Chromosome 6, 42978855: 42978855
18 PEX6 NM_000287.3(PEX6): c.296G> T (p.Arg99Leu) single nucleotide variant Pathogenic rs886037781 GRCh37 Chromosome 6, 42946593: 42946593
19 PEX6 NM_000287.3(PEX6): c.275T> G (p.Val92Gly) single nucleotide variant Pathogenic rs886037780 GRCh38 Chromosome 6, 42978876: 42978876
20 PEX6 NM_000287.3(PEX6): c.275T> G (p.Val92Gly) single nucleotide variant Pathogenic rs886037780 GRCh37 Chromosome 6, 42946614: 42946614

Expression for Heimler Syndrome 2

Search GEO for disease gene expression data for Heimler Syndrome 2.

Pathways for Heimler Syndrome 2

GO Terms for Heimler Syndrome 2

Sources for Heimler Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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