MCID: MNT252
MIFTS: 29

Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

Categories: Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases, Mental 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, 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 26)
# Related Disease Score Top Affiliating Genes
1 nodular nonsuppurative panniculitis 11.2
2 peroxisome biogenesis disorder 1a 11.2
3 spondyloepimetaphyseal dysplasia, genevieve type 11.1
4 adducted thumbs syndrome 10.9
5 localized lipodystrophy 10.9
6 chronic sphenoidal sinusitis 10.9
7 zellweger syndrome 10.9
8 combined hamartoma of the retina and retinal pigment epithelium 10.9
9 panniculitis 9.9
10 astrocytoma 9.9
11 glioma susceptibility 1 9.8
12 deficiency anemia 9.8
13 iron deficiency anemia 9.8
14 gout 9.8
15 schistosomiasis 9.8
16 melanoma 9.8
17 iron metabolism disease 9.8
18 glioblastoma multiforme 9.8
19 teratoma 9.8
20 amelanotic melanoma 9.8
21 psoriasis 9.8
22 hemorrhoid 9.8
23 glioblastoma 9.8
24 endotheliitis 9.8
25 uveitis 9.7
26 pneumonia 9.7

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

GI:
imperforate anus


Clinical features from OMIM:

309620

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

59 32 (show all 16)
# 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 abnormality of the sacrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0005107
7 fused cervical vertebrae 59 32 hallmark (90%) Very frequent (99-80%) HP:0002949
8 short middle phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0005819
9 thoracic hemivertebrae 59 32 hallmark (90%) Very frequent (99-80%) HP:0008467
10 intellectual disability 32 HP:0001249
11 skeletal dysplasia 32 HP:0002652
12 wide nasal bridge 32 HP:0000431
13 glucose intolerance 32 HP:0000833
14 prominent metopic ridge 32 HP:0005487
15 cranial nerve vi palsy 32 HP:0006897
16 abducens palsy 32 HP:0011349

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

Publications for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

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

# Title Authors Year
1
Ten-year course of early-onset Weber-Christian syndrome with recurrent pneumonia: a suggestion for pathogenesis. ( 3725481 )
1986
2
Nodular nonsuppurative panniculitis (Weber-Christian syndrome) with relapsing uveitis. ( 14409834 )
1959
3
Relapsing febrile nodular nonsuppurative panniculitis (Weber-Christian syndrome): case report with response to roentgen therapy, and failure of cortisone. ( 14350473 )
1955
4
Relapsing febrile nodular nonsuppurative panniculitis (Weber-Christian syndrome). ( 14929371 )
1952

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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