MCID: XLN187
MIFTS: 13

X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome

Categories: Eye diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for X-Linked Intellectual Disability-Limb Spasticity-Retinal...

MalaCards integrated aliases for X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome:

Name: X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: late childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


Summaries for X-Linked Intellectual Disability-Limb Spasticity-Retinal...

MalaCards based summary : X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome An important gene associated with X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome is PRPS1 (Phosphoribosyl Pyrophosphate Synthetase 1). Affiliated tissues include eye, and related phenotypes are intellectual disability, profound and hypertelorism

Related Diseases for X-Linked Intellectual Disability-Limb Spasticity-Retinal...

Symptoms & Phenotypes for X-Linked Intellectual Disability-Limb Spasticity-Retinal...

Human phenotypes related to X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, profound 58 31 hallmark (90%) Very frequent (99-80%) HP:0002187
2 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
3 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
4 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
5 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
6 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
7 diabetes insipidus 58 31 frequent (33%) Frequent (79-30%) HP:0000873
8 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
9 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
10 profound global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0012736
11 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
12 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
13 optic disc pallor 58 31 frequent (33%) Frequent (79-30%) HP:0000543
14 spastic tetraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0001285
15 retinal dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000556
16 hyperactive deep tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0006801
17 gastrostomy tube feeding in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0011471
18 muscular hypotonia of the trunk 58 31 frequent (33%) Frequent (79-30%) HP:0008936
19 macular coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0001116
20 exotropia 58 31 frequent (33%) Frequent (79-30%) HP:0000577
21 elevated amniotic fluid alpha-fetoprotein 58 31 frequent (33%) Frequent (79-30%) HP:0004639
22 limb hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0002509
23 delayed myelination 58 31 frequent (33%) Frequent (79-30%) HP:0012448
24 aplasia/hypoplasia of the optic nerve 58 31 frequent (33%) Frequent (79-30%) HP:0008058
25 severe failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001525
26 slow pupillary light response 58 31 frequent (33%) Frequent (79-30%) HP:0030211
27 undetectable visual evoked potentials 58 31 frequent (33%) Frequent (79-30%) HP:0007965
28 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
29 clonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002169
30 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
31 prolonged neonatal jaundice 58 31 occasional (7.5%) Occasional (29-5%) HP:0006579
32 central sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0010536
33 5-minute apgar score of 1 58 31 occasional (7.5%) Occasional (29-5%) HP:0030921
34 1-minute apgar score of 0 58 31 occasional (7.5%) Occasional (29-5%) HP:0030927
35 generalized tonic-clonic seizures 58 Frequent (79-30%)
36 hbh hemoglobin 58 Excluded (0%)

Drugs & Therapeutics for X-Linked Intellectual Disability-Limb Spasticity-Retinal...

Search Clinical Trials , NIH Clinical Center for X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome

Genetic Tests for X-Linked Intellectual Disability-Limb Spasticity-Retinal...

Anatomical Context for X-Linked Intellectual Disability-Limb Spasticity-Retinal...

MalaCards organs/tissues related to X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome:

40
Eye

Publications for X-Linked Intellectual Disability-Limb Spasticity-Retinal...

Variations for X-Linked Intellectual Disability-Limb Spasticity-Retinal...

Expression for X-Linked Intellectual Disability-Limb Spasticity-Retinal...

Search GEO for disease gene expression data for X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome.

Pathways for X-Linked Intellectual Disability-Limb Spasticity-Retinal...

GO Terms for X-Linked Intellectual Disability-Limb Spasticity-Retinal...

Sources for X-Linked Intellectual Disability-Limb Spasticity-Retinal...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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