MCID: ZLL010
MIFTS: 13

Zellweger-Like Syndrome Without Peroxisomal Anomalies

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Zellweger-Like Syndrome Without Peroxisomal Anomalies

MalaCards integrated aliases for Zellweger-Like Syndrome Without Peroxisomal Anomalies:

Name: Zellweger-Like Syndrome Without Peroxisomal Anomalies 58
Ahn-Lerman-Sagie Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
zellweger-like syndrome without peroxisomal anomalies
Inheritance: Autosomal recessive,Mitochondrial inheritance; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Zellweger-Like Syndrome Without Peroxisomal Anomalies

MalaCards based summary : Zellweger-Like Syndrome Without Peroxisomal Anomalies, is also known as ahn-lerman-sagie syndrome. Affiliated tissues include skin, and related phenotypes are global developmental delay and muscular hypotonia

Related Diseases for Zellweger-Like Syndrome Without Peroxisomal Anomalies

Symptoms & Phenotypes for Zellweger-Like Syndrome Without Peroxisomal Anomalies

Human phenotypes related to Zellweger-Like Syndrome Without Peroxisomal Anomalies:

58 31 (showing 22, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
3 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
4 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
5 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
6 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
7 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
8 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
9 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
10 mask-like facies 58 31 hallmark (90%) Very frequent (99-80%) HP:0000298
11 upslanted palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000582
12 bilateral single transverse palmar creases 58 31 hallmark (90%) Very frequent (99-80%) HP:0007598
13 pointed chin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000307
14 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
15 hyporeflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001265
16 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
17 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
18 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
19 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
20 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
21 brittle hair 58 31 frequent (33%) Frequent (79-30%) HP:0002299
22 hyperpigmentation of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0000953

Drugs & Therapeutics for Zellweger-Like Syndrome Without Peroxisomal Anomalies

Search Clinical Trials , NIH Clinical Center for Zellweger-Like Syndrome Without Peroxisomal Anomalies

Genetic Tests for Zellweger-Like Syndrome Without Peroxisomal Anomalies

Anatomical Context for Zellweger-Like Syndrome Without Peroxisomal Anomalies

MalaCards organs/tissues related to Zellweger-Like Syndrome Without Peroxisomal Anomalies:

40
Skin

Publications for Zellweger-Like Syndrome Without Peroxisomal Anomalies

Variations for Zellweger-Like Syndrome Without Peroxisomal Anomalies

Expression for Zellweger-Like Syndrome Without Peroxisomal Anomalies

Search GEO for disease gene expression data for Zellweger-Like Syndrome Without Peroxisomal Anomalies.

Pathways for Zellweger-Like Syndrome Without Peroxisomal Anomalies

GO Terms for Zellweger-Like Syndrome Without Peroxisomal Anomalies

Sources for Zellweger-Like Syndrome Without Peroxisomal Anomalies

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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