MCID: LTH011
MIFTS: 21

Lethal Arthrogryposis with Anterior Horn Cell Disease

Categories: Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Lethal Arthrogryposis with Anterior Horn Cell Disease

MalaCards integrated aliases for Lethal Arthrogryposis with Anterior Horn Cell Disease:

Name: Lethal Arthrogryposis with Anterior Horn Cell Disease 57 75 37 29 6 73
Arthrogryposis, Lethal, with Anterior Horn Cell Disease 57 13 40
Laahd 57 59 75
Lethal Arthrogryposis-Anterior Horn Cell Disease Syndrome 59
Vuopala Disease 59

Characteristics:

HPO:

32
lethal arthrogryposis with anterior horn cell disease:
Inheritance autosomal recessive inheritance
Mortality/Aging neonatal death


Classifications:



External Ids:

OMIM 57 611890
Orphanet 59 ORPHA53696
UMLS via Orphanet 74 C2678471
MedGen 42 C2678471
KEGG 37 H01030
UMLS 73 C2678471

Summaries for Lethal Arthrogryposis with Anterior Horn Cell Disease

UniProtKB/Swiss-Prot : 75 Lethal arthrogryposis with anterior horn cell disease: A disorder characterized by fetal akinesia, arthrogryposis and motor neuron loss. The fetus often survives delivery, but dies early as a result of respiratory failure. Neuropathological findings resemble those of lethal congenital contracture syndrome type 1, but are less severe.

MalaCards based summary : Lethal Arthrogryposis with Anterior Horn Cell Disease, also known as arthrogryposis, lethal, with anterior horn cell disease, is related to anterior horn cell disease and lethal congenital contracture syndrome 1. An important gene associated with Lethal Arthrogryposis with Anterior Horn Cell Disease is GLE1 (GLE1, RNA Export Mediator). Affiliated tissues include skeletal muscle, and related phenotypes are low-set ears and short neck

Wikipedia : 76 Lethal arthrogryposis with anterior horn cell disease (LAAHD) is an autosomal recessive genetic disorder... more...

Description from OMIM: 611890

Related Diseases for Lethal Arthrogryposis with Anterior Horn Cell Disease

Diseases related to Lethal Arthrogryposis with Anterior Horn Cell Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 anterior horn cell disease 28.6 GLE1 LOC101929270
2 lethal congenital contracture syndrome 1 9.2 GLE1 LOC101929270

Symptoms & Phenotypes for Lethal Arthrogryposis with Anterior Horn Cell Disease

Clinical features from OMIM:

611890

Human phenotypes related to Lethal Arthrogryposis with Anterior Horn Cell Disease:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 short neck 32 HP:0000470
3 fetal akinesia sequence 32 HP:0001989
4 arthrogryposis multiplex congenita 32 HP:0002804
5 skeletal muscle atrophy 32 HP:0003202
6 abnormal anterior horn cell morphology 32 HP:0006802
7 paucity of anterior horn motor neurons 32 HP:0007277

Drugs & Therapeutics for Lethal Arthrogryposis with Anterior Horn Cell Disease

Search Clinical Trials , NIH Clinical Center for Lethal Arthrogryposis with Anterior Horn Cell Disease

Genetic Tests for Lethal Arthrogryposis with Anterior Horn Cell Disease

Genetic tests related to Lethal Arthrogryposis with Anterior Horn Cell Disease:

# Genetic test Affiliating Genes
1 Lethal Arthrogryposis with Anterior Horn Cell Disease 29 GLE1

Anatomical Context for Lethal Arthrogryposis with Anterior Horn Cell Disease

MalaCards organs/tissues related to Lethal Arthrogryposis with Anterior Horn Cell Disease:

41
Skeletal Muscle

Publications for Lethal Arthrogryposis with Anterior Horn Cell Disease

Articles related to Lethal Arthrogryposis with Anterior Horn Cell Disease:

# Title Authors Year
1
Lethal arthrogryposis with anterior horn cell disease. ( 7821908 )
1995

Variations for Lethal Arthrogryposis with Anterior Horn Cell Disease

UniProtKB/Swiss-Prot genetic disease variations for Lethal Arthrogryposis with Anterior Horn Cell Disease:

75
# Symbol AA change Variation ID SNP ID
1 GLE1 p.Val617Met VAR_043876 rs121434408
2 GLE1 p.Ile684Thr VAR_043877 rs121434409

ClinVar genetic disease variations for Lethal Arthrogryposis with Anterior Horn Cell Disease:

6
(show top 50) (show all 64)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLE1 NM_001003722.1(GLE1): c.433-10A> G single nucleotide variant Pathogenic rs386833693 GRCh37 Chromosome 9, 131284937: 131284937
2 GLE1 NM_001003722.1(GLE1): c.433-10A> G single nucleotide variant Pathogenic rs386833693 GRCh38 Chromosome 9, 128522658: 128522658
3 GLE1 NM_001003722.1(GLE1): c.1849G> A (p.Val617Met) single nucleotide variant Pathogenic rs121434408 GRCh37 Chromosome 9, 131300337: 131300337
4 GLE1 NM_001003722.1(GLE1): c.1849G> A (p.Val617Met) single nucleotide variant Pathogenic rs121434408 GRCh38 Chromosome 9, 128538058: 128538058
5 GLE1 NM_001003722.1(GLE1): c.2051T> C (p.Ile684Thr) single nucleotide variant Pathogenic rs121434409 GRCh37 Chromosome 9, 131303403: 131303403
6 GLE1 NM_001003722.1(GLE1): c.2051T> C (p.Ile684Thr) single nucleotide variant Pathogenic rs121434409 GRCh38 Chromosome 9, 128541124: 128541124
7 GLE1 NM_001003722.1(GLE1): c.1641T> C (p.Tyr547=) single nucleotide variant Uncertain significance rs77053118 GRCh37 Chromosome 9, 131296225: 131296225
8 GLE1 NM_001003722.1(GLE1): c.1641T> C (p.Tyr547=) single nucleotide variant Uncertain significance rs77053118 GRCh38 Chromosome 9, 128533946: 128533946
9 GLE1 NM_001003722.1(GLE1): c.727A> G (p.Ile243Val) single nucleotide variant Benign rs2275260 GRCh37 Chromosome 9, 131285955: 131285955
10 GLE1 NM_001003722.1(GLE1): c.727A> G (p.Ile243Val) single nucleotide variant Benign rs2275260 GRCh38 Chromosome 9, 128523676: 128523676
11 GLE1 NM_001003722.1(GLE1): c.823G> A (p.Asp275Asn) single nucleotide variant Uncertain significance rs146800850 GRCh37 Chromosome 9, 131286051: 131286051
12 GLE1 NM_001003722.1(GLE1): c.823G> A (p.Asp275Asn) single nucleotide variant Uncertain significance rs146800850 GRCh38 Chromosome 9, 128523772: 128523772
13 GLE1 NM_001003722.1(GLE1): c.1000G> A (p.Glu334Lys) single nucleotide variant Likely benign rs138310419 GRCh38 Chromosome 9, 128525294: 128525294
14 GLE1 NM_001003722.1(GLE1): c.1000G> A (p.Glu334Lys) single nucleotide variant Likely benign rs138310419 GRCh37 Chromosome 9, 131287573: 131287573
15 GLE1 NM_001003722.1(GLE1): c.679C> T (p.Arg227Cys) single nucleotide variant Uncertain significance rs146025848 GRCh37 Chromosome 9, 131285907: 131285907
16 GLE1 NM_001003722.1(GLE1): c.679C> T (p.Arg227Cys) single nucleotide variant Uncertain significance rs146025848 GRCh38 Chromosome 9, 128523628: 128523628
17 GLE1 NM_001003722.1(GLE1): c.5C> G (p.Pro2Arg) single nucleotide variant Uncertain significance rs150246404 GRCh37 Chromosome 9, 131267089: 131267089
18 GLE1 NM_001003722.1(GLE1): c.5C> G (p.Pro2Arg) single nucleotide variant Uncertain significance rs150246404 GRCh38 Chromosome 9, 128504810: 128504810
19 GLE1 NM_001003722.1(GLE1): c.1393T> A (p.Ser465Thr) single nucleotide variant Uncertain significance rs141709685 GRCh37 Chromosome 9, 131295872: 131295872
20 GLE1 NM_001003722.1(GLE1): c.1393T> A (p.Ser465Thr) single nucleotide variant Uncertain significance rs141709685 GRCh38 Chromosome 9, 128533593: 128533593
21 GLE1 NM_001003722.1(GLE1): c.-51G> A single nucleotide variant Uncertain significance rs527886091 GRCh37 Chromosome 9, 131267034: 131267034
22 GLE1 NM_001003722.1(GLE1): c.-51G> A single nucleotide variant Uncertain significance rs527886091 GRCh38 Chromosome 9, 128504755: 128504755
23 GLE1 NM_001003722.1(GLE1): c.-45T> C single nucleotide variant Uncertain significance rs372008961 GRCh37 Chromosome 9, 131267040: 131267040
24 GLE1 NM_001003722.1(GLE1): c.-45T> C single nucleotide variant Uncertain significance rs372008961 GRCh38 Chromosome 9, 128504761: 128504761
25 GLE1 NM_001003722.1(GLE1): c.433-15A> C single nucleotide variant Uncertain significance rs752897261 GRCh37 Chromosome 9, 131284932: 131284932
26 GLE1 NM_001003722.1(GLE1): c.433-15A> C single nucleotide variant Uncertain significance rs752897261 GRCh38 Chromosome 9, 128522653: 128522653
27 GLE1 NM_001003722.1(GLE1): c.*387C> G single nucleotide variant Likely benign rs78624767 GRCh37 Chromosome 9, 131303836: 131303836
28 GLE1 NM_001003722.1(GLE1): c.*387C> G single nucleotide variant Likely benign rs78624767 GRCh38 Chromosome 9, 128541557: 128541557
29 GLE1 NM_001003722.1(GLE1): c.*390C> T single nucleotide variant Uncertain significance rs886063491 GRCh37 Chromosome 9, 131303839: 131303839
30 GLE1 NM_001003722.1(GLE1): c.*390C> T single nucleotide variant Uncertain significance rs886063491 GRCh38 Chromosome 9, 128541560: 128541560
31 GLE1 NM_001003722.1(GLE1): c.*933A> C single nucleotide variant Uncertain significance rs537244282 GRCh37 Chromosome 9, 131304382: 131304382
32 GLE1 NM_001003722.1(GLE1): c.*933A> C single nucleotide variant Uncertain significance rs537244282 GRCh38 Chromosome 9, 128542103: 128542103
33 GLE1 NM_001003722.1(GLE1): c.-108C> A single nucleotide variant Uncertain significance rs545478697 GRCh37 Chromosome 9, 131266977: 131266977
34 GLE1 NM_001003722.1(GLE1): c.-108C> A single nucleotide variant Uncertain significance rs545478697 GRCh38 Chromosome 9, 128504698: 128504698
35 GLE1 NM_001003722.1(GLE1): c.749C> T (p.Ala250Val) single nucleotide variant Uncertain significance rs886063489 GRCh37 Chromosome 9, 131285977: 131285977
36 GLE1 NM_001003722.1(GLE1): c.749C> T (p.Ala250Val) single nucleotide variant Uncertain significance rs886063489 GRCh38 Chromosome 9, 128523698: 128523698
37 GLE1 NM_001003722.1(GLE1): c.2028+15G> A single nucleotide variant Uncertain significance rs886063490 GRCh37 Chromosome 9, 131302632: 131302632
38 GLE1 NM_001003722.1(GLE1): c.2028+15G> A single nucleotide variant Uncertain significance rs886063490 GRCh38 Chromosome 9, 128540353: 128540353
39 GLE1 NM_001003722.1(GLE1): c.*640C> T single nucleotide variant Uncertain significance rs575049150 GRCh37 Chromosome 9, 131304089: 131304089
40 GLE1 NM_001003722.1(GLE1): c.*640C> T single nucleotide variant Uncertain significance rs575049150 GRCh38 Chromosome 9, 128541810: 128541810
41 GLE1 NM_001003722.1(GLE1): c.-81C> T single nucleotide variant Uncertain significance rs56214514 GRCh37 Chromosome 9, 131267004: 131267004
42 GLE1 NM_001003722.1(GLE1): c.-81C> T single nucleotide variant Uncertain significance rs56214514 GRCh38 Chromosome 9, 128504725: 128504725
43 GLE1 NM_001003722.1(GLE1): c.54C> G (p.Asp18Glu) single nucleotide variant Uncertain significance rs549769200 GRCh37 Chromosome 9, 131267138: 131267138
44 GLE1 NM_001003722.1(GLE1): c.54C> G (p.Asp18Glu) single nucleotide variant Uncertain significance rs549769200 GRCh38 Chromosome 9, 128504859: 128504859
45 GLE1 NM_001003722.1(GLE1): c.*111T> C single nucleotide variant Uncertain significance rs567740764 GRCh37 Chromosome 9, 131303560: 131303560
46 GLE1 NM_001003722.1(GLE1): c.*111T> C single nucleotide variant Uncertain significance rs567740764 GRCh38 Chromosome 9, 128541281: 128541281
47 GLE1 NM_001003722.1(GLE1): c.-84A> C single nucleotide variant Uncertain significance rs886063488 GRCh37 Chromosome 9, 131267001: 131267001
48 GLE1 NM_001003722.1(GLE1): c.-84A> C single nucleotide variant Uncertain significance rs886063488 GRCh38 Chromosome 9, 128504722: 128504722
49 GLE1 NM_001003722.1(GLE1): c.321+13T> G single nucleotide variant Uncertain significance rs752458769 GRCh37 Chromosome 9, 131271389: 131271389
50 GLE1 NM_001003722.1(GLE1): c.321+13T> G single nucleotide variant Uncertain significance rs752458769 GRCh38 Chromosome 9, 128509110: 128509110

Expression for Lethal Arthrogryposis with Anterior Horn Cell Disease

Search GEO for disease gene expression data for Lethal Arthrogryposis with Anterior Horn Cell Disease.

Pathways for Lethal Arthrogryposis with Anterior Horn Cell Disease

GO Terms for Lethal Arthrogryposis with Anterior Horn Cell Disease

Sources for Lethal Arthrogryposis with Anterior Horn Cell Disease

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