Zellweger-like syndrome without peroxisomal anomalies

General Information (adopted from Orphanet):

Synonyms, Signs: Ahn-Lerman-Sagie syndrome
Number of Symptoms 61
OrphanetNr: 50812
OMIM Id:
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
12784304 [IBIS]
Age of onset: Neonatal
Childhood
9259985 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Mitochondrial oxidative phosphorylation disorder with no known mechanism
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Syndromic neurometabolic disease with non-X-linked intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Comment:

In Singh et al. (1997) a patient with Zellweger-like syndrome with normal PTS-1 and PTS-2 peroxisomal protein import systems is described (PMID:9259985).

Symptom Information: Sort by abundance 

1
 (HPO:0010769) Pilonidal sinus 9259985 IBIS 35 / 7739
2
 (HPO:0000316) Hypertelorism 9259985 IBIS 644 / 7739
3
 (HPO:0001098) Abnormality of the fundus 9259985 IBIS 2 / 7739
4
 (HPO:0000512) Abnormal electroretinogram 9259985 IBIS 61 / 7739
5
 (HPO:0006532) Recurrent pneumonia 12784304 IBIS 48 / 7739
6
 (HPO:0002151) Increased serum lactate 12784304 IBIS 92 / 7739
7
 (HPO:0004322) Short stature Frequent [Orphanet] 12784304 IBIS 1232 / 7739
8
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 9259985 IBIS 492 / 7739
9
 (HPO:0001508) Failure to thrive 9259985 IBIS 454 / 7739
10
 (HPO:0003215) Dicarboxylic aciduria 12784304 IBIS 7 / 7739
11
 (HPO:0007082) Dilated third ventricle 9259985 IBIS 3 / 7739
12
 (HPO:0002198) Dilated fourth ventricle 9259985 IBIS 12 / 7739
13
 (HPO:0008316) Abnormal mitochondria in muscle tissue 12784304 IBIS 5 / 7739
14
 (HPO:0008167) Very long chain fatty acid accumulation 9259985 IBIS 5 / 7739
15
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 9259985 IBIS 990 / 7739
16
 (HPO:0008936) Muscular hypotonia of the trunk 9259985 IBIS 77 / 7739
17
 (HPO:0001276) Hypertonia 9259985 IBIS 317 / 7739
18
 (HPO:0002376) Developmental regression 9259985 IBIS 74 / 7739
19
 (HPO:0002344) Progressive neurologic deterioration 9259985 IBIS 27 / 7739
20
 (HPO:0001263) Global developmental delay 9259985 IBIS 853 / 7739
21
 (HPO:0002371) Loss of speech 9259985 IBIS 15 / 7739
22
 (HPO:0006957) Loss of ability to walk 9259985 IBIS 7 / 7739
23
 (HPO:0002317) Unsteady gait 9259985 IBIS 45 / 7739
24
 (HPO:0004466) Prolonged brainstem auditory evoked potentials 9259985 IBIS 3 / 7739
25
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 12784304 IBIS 160 / 7739
26
 (HPO:0002069) Generalized tonic-clonic seizures 9259985 IBIS 96 / 7739
27
 (HPO:0100490) Camptodactyly of finger 12784304 IBIS 212 / 7739
28
 (HPO:0001761) Pes cavus 12784304 IBIS 225 / 7739
29
 (HPO:0007598) Bilateral single transverse palmar creases 9259985 IBIS 13 / 7739
30
 (HPO:0000954) Single transverse palmar crease Very frequent [Orphanet] 9259985 IBIS 162 / 7739
31
 (HPO:0000347) Micrognathia 12784304 IBIS 426 / 7739
32
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 12784304 IBIS 366 / 7739
33
 (HPO:0000348) High forehead Very frequent [Orphanet] 9259985 IBIS 157 / 7739
34
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 12784304 IBIS 832 / 7739
35
 (HPO:0000260) Wide anterior fontanel 9259985 IBIS 55 / 7739
36
 (HPO:0008468) Abnormal sacral segmentation 9259985 IBIS 2 / 7739
37
 (HPO:0002299) Brittle hair Frequent [Orphanet] 12784304 IBIS 52 / 7739
38
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 12784304 IBIS 219 / 7739
39
 (HPO:0001945) Fever 9259985 IBIS 218 / 7739
40
 (HPO:0001413) Micronodular cirrhosis 9259985 IBIS 11 / 7739
41
 (HPO:0001395) Hepatic fibrosis 9259985 IBIS 67 / 7739
42
 (HPO:0001433) Hepatosplenomegaly 9259985 IBIS 78 / 7739
43
 (HPO:0000298) Mask-like facies Very frequent [Orphanet] 12784304 IBIS 44 / 7739
44
 (HPO:0001999) Abnormal facial shape 9259985 IBIS 169 / 7739
45
 (HPO:0000307) Pointed chin Very frequent [Orphanet] 12784304 IBIS 45 / 7739
46
 (HPO:0000582) Upslanted palpebral fissure Very frequent [Orphanet] 12784304 IBIS 185 / 7739
47
 (HPO:0002003) Large forehead 9259985 IBIS 9 / 7739
48
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 9259985 IBIS 308 / 7739
49
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 12784304 IBIS 305 / 7739
50
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 9259985 IBIS 290 / 7739
51
 (HPO:0000286) Epicanthus 9259985 IBIS 371 / 7739
52
 (HPO:0000407) Sensorineural hearing impairment 9259985 IBIS 524 / 7739
53
 (HPO:0000369) Low-set ears 9259985 IBIS 372 / 7739
54
 (HPO:0000368) Low-set, posteriorly rotated ears 9259985 IBIS 38 / 7739
55
 (HPO:0000953) Hyperpigmentation of the skin Frequent [Orphanet] 12784304 IBIS 75 / 7739
56
 (HPO:0001371) Flexion contracture 9259985 IBIS 220 / 7739
57
 (HPO:0002500) Abnormality of the cerebral white matter 9259985 IBIS 73 / 7739
58
 (HPO:0001522) Death in infancy 12784304 IBIS 275 / 7739
59
 (HPO:0002415) Leukodystrophy 9259985 IBIS 30 / 7739
60
 (HPO:0002180) Neurodegeneration 9259985 IBIS 31 / 7739
61
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 9259985 IBIS 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: