Christianson syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MRXSCH
Mental retardation, microcephaly, epilepsy, and ataxia syndrome
Angelman-like syndrome, X-linked
X-linked Angelman-like syndrome
X-linked intellectual deficit - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy
X-linked intellectual deficit, South African type
Number of Symptoms 62
OrphanetNr: 85278
OMIM Id: 300243
ICD-10:
UMLs: C1846130
MeSH: C537450
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 30 cases [Orphanet]
Inheritance: X-linked
20949524 [IBIS]
Age of onset: Neonatal
Infancy
20949524 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
X-linked cerebellar ataxia
 -Rare genetic disease
 -Rare neurologic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Comment:

Christianson syndrome is an X-linked mental retardation syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset seizures of variable types. Mutations in SLC9A6, a gene encoding the sodium/hydrogen exchanger NHE6, were identified in the Afrikaner family and families from Norway, Sweden, and Great Britain (PMID:20949524).

Symptom Information: Sort by abundance 

1
 (HPO:0002019) Constipation 29334451 IBIS 194 / 7739
2
 (HPO:0000490) Deeply set eye Occasional [Orphanet] 20949524 IBIS 131 / 7739
3
 (HPO:0000639) Nystagmus Frequent [Orphanet] 20949524 IBIS 555 / 7739
4
 (HPO:0000597) Ophthalmoparesis Frequent [Orphanet] 20949524 IBIS 71 / 7739
5
 (HPO:0000602) Ophthalmoplegia 20949524 IBIS 56 / 7739
6
 (HPO:0000486) Strabismus Very frequent [Orphanet] 20949524 IBIS 576 / 7739
7
 (HPO:0004325) Decreased body weight 20949524 IBIS 492 / 7739
8
 (HPO:0004326) Cachexia Very frequent [Orphanet] 20949524 IBIS 71 / 7739
9
 (HPO:0001252) Muscular hypotonia 20949524 IBIS 990 / 7739
10
 (HPO:0008947) Infantile muscular hypotonia 20949524 IBIS 482 / 7739
11
 (HPO:0002518) Abnormality of the periventricular white matter 20949524 IBIS 24 / 7739
12
 (HPO:0003487) Babinski sign 20949524 IBIS 179 / 7739
13
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 20949524 IBIS 327 / 7739
14
 (HPO:0002078) Truncal ataxia 20949524 IBIS 41 / 7739
15
 (HPO:0000708) Behavioral abnormality Frequent [Orphanet] 20949524 IBIS 212 / 7739
16
 (HPO:0000729) Autistic behavior 20949524 IBIS 27 / 7739
17
 (HPO:0002300) Mutism 20949524 IBIS 28 / 7739
18
 (HPO:0001263) Global developmental delay 20949524 IBIS 853 / 7739
19
 (HPO:0006887) Intellectual disability, progressive 20949524 IBIS 68 / 7739
20
 (HPO:0010864) Intellectual disability, severe 20949524 IBIS 120 / 7739
21
 (HPO:0002307) Drooling 20949524 IBIS 43 / 7739
22
 (HPO:0002360) Sleep disturbance 29334451 IBIS 113 / 7739
23
 (HPO:0001344) Absent speech 20949524 IBIS 57 / 7739
24
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 20949524 IBIS 308 / 7739
25
 (HPO:0100022) Abnormality of movement Frequent [Orphanet] 20949524 IBIS 129 / 7739
26
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 20949524 IBIS 318 / 7739
27
 (HPO:0006794) Loss of ability to walk in first decade 20949524 IBIS 1 / 7739
28
 (HPO:0000752) Hyperactivity 30296617 IBIS 140 / 7739
29
 (HPO:0002487) Hyperkinesis 20949524 IBIS 7 / 7739
30
 (HPO:0002015) Dysphagia Frequent [Orphanet] 20949524 IBIS 301 / 7739
31
 (HPO:0001250) Seizures Very frequent [Orphanet] 20949524 IBIS 1245 / 7739
32
 (HPO:0002069) Generalized tonic-clonic seizures 20949524 IBIS 96 / 7739
33
 (HPO:0000303) Mandibular prognathia Occasional [Orphanet] 20949524 IBIS 179 / 7739
34
 (HPO:0000252) Microcephaly Frequent [Orphanet] 20949524 IBIS 832 / 7739
35
 (HPO:0002020) Gastroesophageal reflux 20949524 IBIS 101 / 7739
36
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 20949524 IBIS 253 / 7739
37
 (HPO:0000276) Long face Very frequent [Orphanet] 20949524 IBIS 109 / 7739
38
 (HPO:0000275) Narrow face Very frequent [Orphanet] 20949524 IBIS 76 / 7739
39
 (HPO:0000194) Open mouth 20949524 IBIS 70 / 7739
40
 (HPO:0000366) Abnormality of the nose Occasional [Orphanet] 20949524 IBIS 56 / 7739
41
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 20949524 IBIS 114 / 7739
42
 (HPO:0003189) Long nose 20949524 IBIS 20 / 7739
43
 (HPO:0001371) Flexion contracture 20949524 IBIS 220 / 7739
44
 (HPO:0002803) Congenital contracture Occasional [Orphanet] 20949524 IBIS 45 / 7739
45
 (HPO:0002363) Abnormality of brainstem morphology Very frequent [Orphanet] 20949524 IBIS 14 / 7739
46
 (HPO:0030047) Abnormality of lateral ventricle 20949524 IBIS 2 / 7739
47
 (HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 20949524 IBIS 137 / 7739
48
 (HPO:0006817) Aplasia/Hypoplasia of the cerebellar vermis 20949524 IBIS 15 / 7739
49
 (HPO:0001272) Cerebellar atrophy 20949524 IBIS 197 / 7739
50
 (HPO:0001522) Death in infancy Occasional [Orphanet] 20949524 IBIS 275 / 7739
51
 (HPO:0040082) Happy demeanor 20949524 IBIS 6 / 7739
52
 (HPO:0400004) Long ear Very frequent [Orphanet] 20949524 IBIS 94 / 7739
53
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 20949524 IBIS 949 / 7739
54
 (HPO:0002529) Neuronal loss in central nervous system 20949524 IBIS 37 / 7739
55
 (HPO:0001417) X-linked inheritance 20949524 IBIS 173 / 7739
56
 (MedDRA:10021639) Incontinence 30296617 IBIS 11 / 7739
57
 (OMIM) Deep, sunken eyes 20949524 IBIS 1 / 7739
58
 (OMIM) Easily provoked laughter 20949524 IBIS 1 / 7739
59
 (OMIM) Lack of speech 20949524 IBIS 17 / 7739
60
 (OMIM) Late ambulation 20949524 IBIS 1 / 7739
61
 (OMIM) Long narrow face 20949524 IBIS 11 / 7739
62
 (OMIM) Long, straight nose 20949524 IBIS 1 / 7739

Associated genes:

SLC9A6;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Christianson syndrome is an X-linked mental retardation syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types. Carrier females may be mildly affected (summary by Schroer et ...
Clinical Description OMIM Christianson et al. (1999) described a 5-generation South African family with X-linked mental retardation, comprising 16 affected males and 10 carrier females. The clinical features common to the 16 males included profound mental retardation (100%), mutism despite apparently normal ...
Molecular genetics OMIM In affected members of 4 unrelated families with Christianson-type X-linked syndromic mental retardation (300243), including the original family reported by Christianson et al. (1999), Gilfillan et al. (2008) identified 4 different mutations in the SLC9A6 gene (300231.0001-300231.0004).

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