MCID: DYS195
MIFTS: 11

Dysmyelination with Jaundice

Aliases & Classifications for Dysmyelination with Jaundice

MalaCards integrated aliases for Dysmyelination with Jaundice:

Name: Dysmyelination with Jaundice 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on one report of brother and sister


HPO:

33
dysmyelination with jaundice:
Inheritance autosomal recessive inheritance


Summaries for Dysmyelination with Jaundice

MalaCards based summary : Dysmyelination with Jaundice Affiliated tissues include brain and spinal cord, and related phenotypes are intellectual disability and seizures

Description from OMIM: 224250

Related Diseases for Dysmyelination with Jaundice

Symptoms & Phenotypes for Dysmyelination with Jaundice

Human phenotypes related to Dysmyelination with Jaundice:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 seizures 33 HP:0001250
3 cryptorchidism 33 HP:0000028
4 jaundice 33 HP:0000952
5 recurrent infections 33 HP:0002719
6 hypoplasia of penis 33 HP:0008736
7 cerebral palsy 33 HP:0100021
8 hydronephrosis 33 HP:0000126
9 hydroureter 33 HP:0000072

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
mental retardation
cerebral palsy, spastic
dysmyelination of the brain and spinal cord

Respiratory:
recurrent infections

Genitourinary Kidneys:
hydronephrosis

Abdomen Liver:
jaundice, progressive or intermittent
hepatic duct hypoplasia

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary External Genitalia Male:
hypoplasia of penis

Genitourinary Ureters:
hydroureter

Clinical features from OMIM:

224250

Drugs & Therapeutics for Dysmyelination with Jaundice

Search Clinical Trials , NIH Clinical Center for Dysmyelination with Jaundice

Genetic Tests for Dysmyelination with Jaundice

Anatomical Context for Dysmyelination with Jaundice

MalaCards organs/tissues related to Dysmyelination with Jaundice:

42
Brain, Spinal Cord

Publications for Dysmyelination with Jaundice

Variations for Dysmyelination with Jaundice

Expression for Dysmyelination with Jaundice

Search GEO for disease gene expression data for Dysmyelination with Jaundice.

Pathways for Dysmyelination with Jaundice

GO Terms for Dysmyelination with Jaundice

Sources for Dysmyelination with Jaundice

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....