HMLR2
MCID: HML046
MIFTS: 22

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 56 73 29 6
Peroxisome Biogenesis Disorder 4c 56 73
Hmlr2 56 73
Pbd4c 56 73
Peroxisome Biogenesis Disorder 4c; Pbd4c 56
Heimler Syndrome, Type 2 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
heimler syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 616617
OMIM Phenotypic Series 56 PS214100

Summaries for Heimler Syndrome 2

OMIM : 56 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 : 73 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:

31
# Description HPO Frequency HPO Source Accession
1 pes planus 31 HP:0001763
2 dental crowding 31 HP:0000678
3 leukonychia 31 HP:0001820

Symptoms via clinical synopsis from OMIM:

56
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 29 PEX6

Anatomical Context for Heimler Syndrome 2

Publications for Heimler Syndrome 2

Articles related to Heimler Syndrome 2:

# Title Authors PMID Year
1
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 56 6
26387595 2015
2
Sensorineural deafness, enamel abnormalities and nail abnormalities: a case report of Heimler syndrome in identical twin girls. 56 6
16530715 2006
3
Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 6
19877282 2010
4
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 6
19105186 2009
5
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 6
15542397 2004
6
Zellweger Spectrum Disorder 6
20301621 2003
7
Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 6
12402331 2002

Variations for Heimler Syndrome 2

ClinVar genetic disease variations for Heimler Syndrome 2:

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PEX6 NM_000287.4(PEX6):c.1930C>T (p.Arg644Trp)SNV Pathogenic 217425 rs769896492 6:42934551-42934551 6:42966813-42966813
2 PEX6 NM_000287.4(PEX6):c.2714G>T (p.Cys905Phe)SNV Pathogenic 224322 rs886037782 6:42932620-42932620 6:42964882-42964882
3 PEX6 NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile)SNV Pathogenic 224323 rs61753224 6:42935275-42935275 6:42967537-42967537
4 PEX6 NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)deletion Pathogenic 224321 rs267608216 6:42937452-42937459 6:42969714-42969721
5 PEX6 NM_000287.4(PEX6):c.296G>T (p.Arg99Leu)SNV Pathogenic 224320 rs886037781 6:42946593-42946593 6:42978855-42978855
6 PEX6 NM_000287.4(PEX6):c.275T>G (p.Val92Gly)SNV Pathogenic 224319 rs886037780 6:42946614-42946614 6:42978876-42978876
7 PEX6 NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)SNV Pathogenic/Likely pathogenic 217424 rs61753219 6:42946068-42946068 6:42978330-42978330
8 PEX6 NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter)SNV Pathogenic/Likely pathogenic 194165 rs267608241 6:42933450-42933450 6:42965712-42965712
9 PEX6 NM_000287.4(PEX6):c.1841del (p.Leu614fs)deletion Likely pathogenic 217426 rs863225083 6:42935149-42935149 6:42967411-42967411
10 PEX6 NM_000287.4(PEX6):c.386A>T (p.Glu129Val)SNV Likely pathogenic 625158 rs1561831003 6:42946503-42946503 6:42978765-42978765
11 PEX6 NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)SNV Conflicting interpretations of pathogenicity 198709 rs34324426 6:42935188-42935188 6:42967450-42967450
12 PEX6 NM_000287.4(PEX6):c.654C>G (p.Phe218Leu)SNV Conflicting interpretations of pathogenicity 224318 rs886037779 6:42946235-42946235 6:42978497-42978497
13 PEX6 NM_000287.4(PEX6):c.719C>G (p.Ala240Gly)SNV Uncertain significance 288056 rs372269200 6:42946170-42946170 6:42978432-42978432

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

73
# 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

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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