MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expandCongenital Disorders of Glycosylation (D018981)
..Starting node
..expandCONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)

       Child Nodes:



 Sister Nodes: 
..expandColoboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities (C567328)
..expandCONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
..expandCongenital disorder of glycosylation type 1A (C535739)
..expandCongenital disorder of glycosylation type 1B (C535740)
..expandCongenital disorder of glycosylation type 1C (C535741)
..expandCongenital disorder of glycosylation type 1D (C535742)
..expandCongenital disorder of glycosylation type 1E (C535743)
..expandCongenital disorder of glycosylation type 1F (C535744)
..expandCongenital disorder of glycosylation type 1G (C535745)
..expandCongenital disorder of glycosylation type 1H (C535746)
..expandCongenital disorder of glycosylation type 1I (C000623088)
..expandCongenital disorder of glycosylation type 1J (C535748)
..expandCongenital disorder of glycosylation type 1K (C535749)
..expandCongenital disorder of glycosylation type 1L (C535750)
..expandCongenital disorder of glycosylation type 1X (C535751)
..expandCongenital disorder of glycosylation type 2A (C535752)
..expandCongenital disorder of glycosylation type 2D (C535753)
..expandCongenital disorder of glycosylation type 2E (C535754)
..expandCongenital disorder of glycosylation type II (C535747)
..expandCongenital disorder of glycosylation, type 2C (C535755)
..expandCongenital disorder of glycosylation, type 2G (C535756)
..expandCongenital Disorder Of Glycosylation, Type I-IIX (C562844)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa (OMIM:617082)
..expandCongenital Disorder Of Glycosylation, Type IIB (C565264)
..expandCongenital Disorder Of Glycosylation, Type IIF (C567040)
..expandCongenital Disorder Of Glycosylation, Type IIH (C566987)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi (OMIM:613612)
..expandCongenital Disorder Of Glycosylation, Type IIID (C564625)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk (OMIM:614727)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq (OMIM:617395)
..expandCongenital Disorder Of Glycosylation, Type Im (C563666)
..expandCongenital Disorder Of Glycosylation, Type In (C567437)
..expandCongenital Disorder of Glycosylation, Type Io (C567857)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir (OMIM:614507)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw (OMIM:615596)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix (OMIM:615597)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
..expandNGLY1 deficiency (C000626124)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:2887
Name:CONGENITAL DISORDER OF DEGLYCOSYLATION
Definition:
Alternative IDs:DO:DOID:0060728
ParentIDs:MESH:D018981
TreeNumbers:C16.320.565.202.125/615273 |C18.452.648.202.125/615273
Synonyms:CDDG |CDG1V, FORMERLY |CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iv, FORMERLY
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: 615273
MeSH: 615273
OMIM: 615273;
MSeqDR LSDB:  
Genes: NGLY1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000522Alacrima
3 HP:0000970AnhidrosisHP:0040284
4 HP:0007957Corneal opacityHP:0040284
5 HP:0025455Decreased CSF 5-hydroxyindolacetic acid
6 HP:0025458Decreased CSF albumin
7 HP:0030978Decreased CSF/serum albumin ratioHP:0040284
8 HP:0003448Decreased sensory nerve conduction velocityHP:0040284
9 HP:0012448Delayed myelinationHP:0040284
10 HP:0002910Elevated hepatic transaminasesHP:0040284
11 HP:0001945Fever
12 HP:0001290Generalized hypotonia
13 HP:0001263Global developmental delay
NAMDC:  Mental retardation		HP:0040284
14 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)		HP:0040284
15 HP:0002240HepatomegalyHP:0040284
16 HP:0025460High myoinositol in brain by MRS
17 HP:0000975HyperhidrosisHP:0040284
18 HP:0002487HyperkinesisHP:0040284
19 HP:0000316HypertelorismHP:0040284
20 HP:0001265HyporeflexiaHP:0040284
21 HP:0008954Intrinsic hand muscle atrophyHP:0040284
22 HP:0004305Involuntary movementsHP:0040284
23 HP:0000252MicrocephalyHP:0040284
24 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia		HP:0040284
25 HP:0200136Oral-pharyngeal dysphagiaHP:0040284
26 HP:0000939OsteoporosisHP:0040284
27 HP:0012531Pain
28 HP:0007021Pain insensitivityHP:0040284
29 HP:0001271Polyneuropathy
30 HP:0000508Ptosis
NAMDC:  Ptosis		HP:0040284
31 HP:0002205Recurrent respiratory infectionsHP:0040284
32 HP:0002098Respiratory distressHP:0040284
33 HP:0000711RestlessnessHP:0040284
34 HP:0002650ScoliosisHP:0040284
35 HP:0001250Seizures
NAMDC:  Seizures 		HP:0040284
36 HP:0001773Short foot
37 HP:0000954Single transverse palmar creaseHP:0040284
38 HP:0200055Small hand
39 HP:0000486StrabismusHP:0040284
Disease Causing ClinVar Variants
MSeqDR Portal