CHRS
MCID: MNT252
MIFTS: 37

Mental Retardation, Skeletal Dysplasia, and Abducens Palsy (CHRS)

Categories: Bone diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

MalaCards integrated aliases for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy:

Name: Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 57 73
Christian Syndrome 57 76 53 59
Mental Retardation-Skeletal Dysplasia 57 13
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome 59
Mental Retardation Skeletal Dysplasia Abducens Palsy 53
Christian Syndrome; Chrs 57
Zellweger Syndrome 73
Mrsd 57
Chrs 57

Characteristics:

Orphanet epidemiological data:

59
x-linked skeletal dysplasia-intellectual disability syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
x-linked (xq28-qter)


HPO:

32
mental retardation, skeletal dysplasia, and abducens palsy:
Inheritance x-linked inheritance


Classifications:



Summaries for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1436Disease definitionSkeletal dysplasia-intellectual disabilitysyndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.Visit the Orphanet disease page for more resources.

MalaCards based summary : Mental Retardation, Skeletal Dysplasia, and Abducens Palsy, also known as christian syndrome, is related to nodular nonsuppurative panniculitis and peroxisome biogenesis disorder 1a, and has symptoms including seizures An important gene associated with Mental Retardation, Skeletal Dysplasia, and Abducens Palsy is MRSD (Mental Retardation-Skeletal Dysplasia). Affiliated tissues include bone, pancreas and retina, and related phenotypes are scoliosis and type ii diabetes mellitus

Wikipedia : 76 Adducted thumb syndrome recessive form is a rare disease affecting multiple systems causing... more...

Description from OMIM: 309620

Related Diseases for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

Diseases related to Mental Retardation, Skeletal Dysplasia, and Abducens Palsy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 nodular nonsuppurative panniculitis 11.4
2 peroxisome biogenesis disorder 1a 11.3
3 spondyloepimetaphyseal dysplasia, genevieve type 11.2
4 perrault syndrome 1 11.1
5 adducted thumbs syndrome 11.1
6 localized lipodystrophy 11.1
7 chronic sphenoidal sinusitis 11.0
8 zellweger syndrome 11.0
9 combined hamartoma of the retina and retinal pigment epithelium 11.0
10 panniculitis 10.3
11 hepatorenal syndrome 10.1
12 astrocytoma 10.1
13 xanthomatosis 10.0
14 eosinophilic granuloma 10.0
15 glioma susceptibility 1 9.9
16 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.9
17 deficiency anemia 9.9
18 ulcerative colitis 9.9
19 colitis 9.9
20 iron deficiency anemia 9.9
21 melanoma 9.9
22 iron metabolism disease 9.9
23 glioblastoma multiforme 9.9
24 teratoma 9.9
25 amelanotic melanoma 9.9
26 psoriasis 9.9
27 glioblastoma 9.9
28 sarcoma 9.8
29 uveitis 9.8
30 histiocytosis 9.8
31 pneumonia 9.8

Graphical network of the top 20 diseases related to Mental Retardation, Skeletal Dysplasia, and Abducens Palsy:



Diseases related to Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

Symptoms & Phenotypes for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

Symptoms via clinical synopsis from OMIM:

57
Skel:
scoliosis
fused cervical vertebrae
thoracic hemivertebrae
ridging of metopic suture
sacral hypoplasia

Endo:
glucose intolerance

Nose:
broad nasal bridge

Limbs:
short middle phalanges

Growth:
short stature

Neuro:
cranial nerve vi palsy
abducens palsy
mental-retardation

G I:
imperforate anus


Clinical features from OMIM:

309620

Human phenotypes related to Mental Retardation, Skeletal Dysplasia, and Abducens Palsy:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
2 type ii diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0005978
3 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
4 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
5 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
6 fused cervical vertebrae 59 32 hallmark (90%) Very frequent (99-80%) HP:0002949
7 short middle phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0005819
8 thoracic hemivertebrae 59 32 hallmark (90%) Very frequent (99-80%) HP:0008467
9 intellectual disability 32 HP:0001249
10 skeletal dysplasia 32 HP:0002652
11 wide nasal bridge 32 HP:0000431
12 glucose intolerance 32 HP:0000833
13 abnormality of the sacrum 59 Very frequent (99-80%)
14 prominent metopic ridge 32 HP:0005487
15 cranial nerve vi palsy 32 HP:0006897
16 abducens palsy 32 HP:0011349
17 abnormal sacrum morphology 32 hallmark (90%) HP:0005107

UMLS symptoms related to Mental Retardation, Skeletal Dysplasia, and Abducens Palsy:


seizures

Drugs & Therapeutics for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

Genetic Tests for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

Anatomical Context for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

MalaCards organs/tissues related to Mental Retardation, Skeletal Dysplasia, and Abducens Palsy:

41
Bone, Pancreas, Retina, Breast

Publications for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

Articles related to Mental Retardation, Skeletal Dysplasia, and Abducens Palsy:

(show all 45)
# Title Authors Year
1
Weber-Christian syndrome revealing intraductal papillary mucinous tumor of the pancreas. ( 10206492 )
1999
2
Weber-Christian syndrome after endoscopic retrograde pancreatography. ( 9362213 )
1997
3
Imaging of Hand-Schüller-Christian syndrome by a monoclonal antibody. ( 9363388 )
1997
4
Corticosteroid-sparing effect of hydroxychloroquine in a patient with early-onset Weber-Christian syndrome. ( 2273126 )
1990
5
Ten-year course of early-onset Weber-Christian syndrome with recurrent pneumonia: a suggestion for pathogenesis. ( 3725481 )
1986
6
Prolonged remission of Weber-Christian syndrome in an infant. ( 7249492 )
1981
7
Weber--Christian syndrome in infancy. ( 305256 )
1978
8
Hand Schuller Christian syndrome. Report of a case. ( 4707283 )
1973
9
Idiopathic histiocytosis: a discussion of eosinophilic granuloma, the Hand-Schüller-Christian syndrome, and the Letterer-Siwe syndrome. ( 4563106 )
1972
10
Ocular pathology associated with the Weber Christian syndrome. ( 4651982 )
1972
11
A reappraisal of eosinophilic granuloma of bone, Hand-Schüller-Christian syndrome and Letterer-Siwe syndrome. ( 5381450 )
1969
12
Relapsing nodular panniculitis: Weber-Christian syndrome. ( 5719869 )
1968
13
Weber-Christian syndrome of pancreatic origin. ( 6025575 )
1967
14
Factitial Weber-Christian syndrome. ( 5332042 )
1966
15
Weber-Christian syndrome in a newborn. ( 5966344 )
1966
16
Weber Christian Syndrome in a Child. ( 29244435 )
1965
17
HAND-SCHULLER-CHRISTIAN SYNDROME. REPORT OF A CASE. ( 14218269 )
1964
18
HAND SCHULLER CHRISTIAN SYNDROME. CASE REPORT. ( 14231761 )
1964
19
Relapsing febrile non-suppurative nodular panniculitis (Weber-Christian syndrome). ( 13975964 )
1963
20
The Weber-Christian syndrome, with particular reference to etiology. A description of eight cases of panniculitis. ( 13682168 )
1960
21
Relapsing focal liponecrosis (Weber-Christian syndrome) of the breast. ( 14404868 )
1960
22
Nodular nonsuppurative panniculitis (Weber-Christian syndrome) with relapsing uveitis. ( 14409834 )
1959
23
Chloroquine diphosphate therapy in Weber-Christian syndrome. ( 14425625 )
1959
24
Hand-Schuller-Christian syndrome with complete destruction of scapula. ( 13620925 )
1958
25
An unusual case of Weber-Christian syndrome. ( 13488205 )
1957
26
The Weber-Christian syndrome. ( 13327362 )
1956
27
Relapsing febrile nodular nonsuppurative panniculitis (Weber-Christian syndrome): case report with response to roentgen therapy, and failure of cortisone. ( 14350473 )
1955
28
Relapsing febrile non-suppurative panniculitis (Weber-Christian Syndrome). ( 13278866 )
1955
29
Weber-Christian syndrome. ( 13119893 )
1954
30
Weber-Christian syndrome. ( 13030481 )
1953
31
A note on leprosy as an aetiological factor in the Weber-Christian syndrome. ( 13070945 )
1953
32
Relapsing febrile nodular nonsuppurative panniculitis (Weber-Christian syndrome). ( 14929371 )
1952
33
Chronic panniculitis with leucopenia (Weber-Christian syndrome). ( 14884752 )
1952
34
Hand-Schüller-Christian syndrome; report of a case. ( 14915691 )
1952
35
Weber-Christian syndrome; report of a case. ( 14956328 )
1952
36
A case of Hand-Schüller-Christian syndrome treated with cortisone. ( 14878337 )
1951
37
Weber-Christian syndrome. ( 14779561 )
1950
38
Hand-Schüller-Christian syndrome; review and report of a case. ( 15391659 )
1949
39
Vascular lesions associated with the Weber-Christian syndrome. ( 18886951 )
1948
40
Some observations on the so-called Hand-Schüller-Christian syndrome. ( 18908863 )
1948
41
Relapsing febrile nodular inflammation of adipose tissue (Weber-Christian syndrome); report of a case with autopsy. ( 20996417 )
1946
42
Hand-Schüller-Christian syndrome. ( 21065310 )
1946
43
Hand-Schüller-Christian Syndrome. ( 19992100 )
1939
44
Three Unusual Affections of the Jaws: I, Fibro-myxo-sarcoma of Mandible; II, Multilocular Cyst arising from a Maxillary Dental Cyst; III, Xanthomatosis or Lipoid Granulomatosis of Mandible. (Schüller-Christian Syndrome): (Section of Odontology). ( 19991626 )
1938
45
XANTHOMATOSIS AND THE SCHULLER-CHRISTIAN SYNDROME: A ROENTGENOLOGICAL AND CLINICAL STUDY. ( 20319628 )
1934

Variations for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

Expression for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

Search GEO for disease gene expression data for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy.

Pathways for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

GO Terms for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

Sources for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

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74 UMLS via Orphanet
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