Hypomyelination - congenital cataract

General Information (adopted from Orphanet):

Synonyms, Signs: HYPOMYELINATION AND CONGENITAL CATARACT: HCC
HLD5
Number of Symptoms 41
OrphanetNr: 85163
OMIM Id: 610532
ICD-10: G37.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 10 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Leukodystrophy
 -Rare genetic disease
 -Rare neurologic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndromic cataract
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000519) Congenital cataract 73 / 7739
2
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
3
 (HPO:0006957) Loss of ability to walk 7 / 7739
4
 (HPO:0001263) Global developmental delay 853 / 7739
5
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
6
 (HPO:0001347) Hyperreflexia 363 / 7739
7
 (HPO:0001260) Dysarthria 329 / 7739
8
 (HPO:0002080) Intention tremor 44 / 7739
9
 (HPO:0001249) Intellectual disability 1089 / 7739
10
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
11
 (HPO:0007256) Abnormal pyramidal signs 116 / 7739
12
 (HPO:0001270) Motor delay 322 / 7739
13
 (HPO:0009830) Peripheral neuropathy 206 / 7739
14
 (HPO:0001271) Polyneuropathy 56 / 7739
15
 (HPO:0001250) Seizures 1245 / 7739
16
 (HPO:0003487) Babinski sign 179 / 7739
17
 (HPO:0002650) Scoliosis 705 / 7739
18
 (HPO:0007210) Lower limb amyotrophy 7 / 7739
19
 (HPO:0007340) Lower limb muscle weakness 61 / 7739
20
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
21
 (OMIM) Sural nerve biopsy shows decrease in myelinated fibers 1 / 7739
22
 (HPO:0002415) Leukodystrophy 30 / 7739
23
 (HPO:0001317) Abnormality of the cerebellum 36 / 7739
24
 (OMIM) Small onion bulb formation 1 / 7739
25
 (OMIM) Progressive scoliosis 6 / 7739
26
 (OMIM) Loss of myelin 1 / 7739
27
 (OMIM) Cerebral white matter atrophy, progressive 1 / 7739
28
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
29
 (HPO:0003828) Variable expressivity 130 / 7739
30
 (OMIM) Cataracts, usually congenital 1 / 7739
31
 (OMIM) Leukodystrophy, hypomyelinating 3 / 7739
32
 (HPO:0003593) Infantile onset 249 / 7739
33
 (HPO:0012762) Cerebral white matter atrophy 3 / 7739
34
 (OMIM) Truncal titubation 1 / 7739
35
 (OMIM) Abnormal folding of the myelin sheath 1 / 7739
36
 (OMIM) Mental retardation, mild to moderate 33 / 7739
37
 (OMIM) Weakness and wasting of the lower limbs 1 / 7739
38
 (OMIM) Inability to walk independently 4 / 7739
39
 (OMIM) Loss of ability to walk later 1 / 7739
40
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
41
 (HPO:0030147) Truncal titubation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Zara et al. (2006) identified 10 individuals from 5 families with a disorder characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency as shown by brain magnetic resonance imaging (MRI). All individuals presented with bilateral cataract ...
Molecular genetics OMIM Zara et al. (2006) systematically screened all 31 transcripts within the critical linkage region and identified 3 mutations in the FAM126A gene in 5 families. Two mutations affected splice sites (610531.0001 and 610531.0002), whereas the third was a ...