LAAHD
MCID: CNG538
MIFTS: 24

Congenital Arthrogryposis with Anterior Horn Cell Disease (LAAHD)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Arthrogryposis with Anterior Horn Cell Disease

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

Name: Congenital Arthrogryposis with Anterior Horn Cell Disease 58
Lethal Arthrogryposis with Anterior Horn Cell Disease 76 38 30 6
Arthrogryposis, Lethal, with Anterior Horn Cell Disease 13 41
Laahd 60 76
Lethal Arthrogryposis with Anterior Horn Cell Disease, Formerly; Laahd, Formerly 58
Lethal Arthrogryposis with Anterior Horn Cell Disease, Formerly 58
Lethal Arthrogryposis-Anterior Horn Cell Disease Syndrome 60
Laahd, Formerly 58
Vuopala Disease 60
Caahd 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
highly variable severity
onset in utero
death in infancy or early childhood may occur


HPO:

33
congenital arthrogryposis with anterior horn cell disease:
Mortality/Aging neonatal death
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 611890
KEGG 38 H01030
UMLS via Orphanet 75 C2678471
Orphanet 60 ORPHA53696
MedGen 43 C2678471

Summaries for Congenital Arthrogryposis with Anterior Horn Cell Disease

OMIM : 58 Congenital arthrogryposis with anterior horn cell disease (CAAHD) is an autosomal recessive neuromuscular disorder with highly variable severity. Affected individuals are usually noted to have contractures in utero on prenatal ultrasound studies, and present at birth with generalized contractures manifest as arthrogryposis multiplex congenita (AMC). Patients have severe hypotonia with respiratory insufficiency, often resulting in death in infancy or early childhood. Some patients may survive into later childhood with supportive care, but may be unable to walk or sit independently due to a combination of muscle weakness and contractures. Cognition may be normal. The disorder also includes multiple congenital anomalies associated with AMC and hypotonia, including high-arched palate, myopathic facies, and bulbar weakness. Neuropathologic studies demonstrate severe loss of anterior horn cells in the spinal cord, as well as diffuse motor neuron axonopathy (summary by Smith et al., 2017 and Tan et al., 2017). (611890)

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

UniProtKB/Swiss-Prot : 76 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.

Related Diseases for Congenital Arthrogryposis with Anterior Horn Cell Disease

Diseases related to Congenital 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 10.2

Symptoms & Phenotypes for Congenital Arthrogryposis with Anterior Horn Cell Disease

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

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 low-set ears 33 HP:0000369
2 short neck 33 HP:0000470
3 skeletal muscle atrophy 33 HP:0003202
4 arthrogryposis multiplex congenita 33 HP:0002804
5 fetal akinesia sequence 33 HP:0001989
6 paucity of anterior horn motor neurons 33 HP:0007277
7 abnormal anterior horn cell morphology 33 HP:0006802

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears

Skeletal Spine:
scoliosis
kyphosis

Head And Neck Face:
prominent forehead
micrognathia
retrognathia
myopathic facies
facial diplegia

Abdomen Gastrointestinal:
feeding difficulties
tube feeding

Neurologic Central Nervous System:
inability to walk
difficulty walking
brisk reflexes
delayed motor development
seizures (in some patients)
more
Head And Neck Mouth:
high-arched palate
tent-shaped mouth
atrophic tongue

Head And Neck Head:
microcephaly (in some patients)

Skeletal:
arthrogryposis
contractures, congenital

Prenatal Manifestations Movement:
decreased fetal movements

Head And Neck Eyes:
ptosis
myopia
downslanting palpebral fissures

Skeletal Pelvis:
hip dysplasia

Respiratory:
respiratory insufficiency due to muscle weakness
respiratory failure
mechanical ventilation

Genitourinary External Genitalia Male:
cryptorchidism

Muscle Soft Tissue:
hypotonia
muscle atrophy
loss of muscle fibers and increased fibrous tissue seen on muscle biopsy
emg indicates a neurogenic process

Skeletal Feet:
rocker-bottom feet
club feet

Skeletal Hands:
clenched hands
single palmar crease
ulnar deviation of the fingers

Neurologic Peripheral Nervous System:
areflexia of the lower limbs
axonal neuropathy

Clinical features from OMIM:

611890

Drugs & Therapeutics for Congenital Arthrogryposis with Anterior Horn Cell Disease

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

Genetic Tests for Congenital Arthrogryposis with Anterior Horn Cell Disease

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

# Genetic test Affiliating Genes
1 Lethal Arthrogryposis with Anterior Horn Cell Disease 30 GLE1

Anatomical Context for Congenital Arthrogryposis with Anterior Horn Cell Disease

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

42
Spinal Cord, Tongue, Skeletal Muscle

Publications for Congenital Arthrogryposis with Anterior Horn Cell Disease

Articles related to Congenital Arthrogryposis with Anterior Horn Cell Disease:

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

Variations for Congenital Arthrogryposis with Anterior Horn Cell Disease

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

76
# 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 Congenital Arthrogryposis with Anterior Horn Cell Disease:

6 (show top 50) (show all 73)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLE1 NM_001003722.1(GLE1): c.1641T> C (p.Tyr547=) single nucleotide variant Uncertain significance rs77053118 GRCh37 Chromosome 9, 131296225: 131296225
2 GLE1 NM_001003722.1(GLE1): c.1641T> C (p.Tyr547=) single nucleotide variant Uncertain significance rs77053118 GRCh38 Chromosome 9, 128533946: 128533946
3 GLE1 NM_001003722.1(GLE1): c.727A> G (p.Ile243Val) single nucleotide variant Benign rs2275260 GRCh37 Chromosome 9, 131285955: 131285955
4 GLE1 NM_001003722.1(GLE1): c.727A> G (p.Ile243Val) single nucleotide variant Benign rs2275260 GRCh38 Chromosome 9, 128523676: 128523676
5 GLE1 NM_001003722.1(GLE1): c.433-10A> G single nucleotide variant Pathogenic rs386833693 GRCh37 Chromosome 9, 131284937: 131284937
6 GLE1 NM_001003722.1(GLE1): c.433-10A> G single nucleotide variant Pathogenic rs386833693 GRCh38 Chromosome 9, 128522658: 128522658
7 GLE1 NM_001003722.1(GLE1): c.1706G> A (p.Arg569His) single nucleotide variant Likely pathogenic rs121434407 GRCh37 Chromosome 9, 131298693: 131298693
8 GLE1 NM_001003722.1(GLE1): c.1706G> A (p.Arg569His) single nucleotide variant Likely pathogenic rs121434407 GRCh38 Chromosome 9, 128536414: 128536414
9 GLE1 NM_001003722.1(GLE1): c.1849G> A (p.Val617Met) single nucleotide variant Pathogenic rs121434408 GRCh37 Chromosome 9, 131300337: 131300337
10 GLE1 NM_001003722.1(GLE1): c.1849G> A (p.Val617Met) single nucleotide variant Pathogenic rs121434408 GRCh38 Chromosome 9, 128538058: 128538058
11 GLE1 NM_001003722.1(GLE1): c.2051T> C (p.Ile684Thr) single nucleotide variant Pathogenic rs121434409 GRCh37 Chromosome 9, 131303403: 131303403
12 GLE1 NM_001003722.1(GLE1): c.2051T> C (p.Ile684Thr) single nucleotide variant Pathogenic rs121434409 GRCh38 Chromosome 9, 128541124: 128541124
13 GLE1 NM_001003722.1(GLE1): c.823G> A (p.Asp275Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs146800850 GRCh37 Chromosome 9, 131286051: 131286051
14 GLE1 NM_001003722.1(GLE1): c.823G> A (p.Asp275Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs146800850 GRCh38 Chromosome 9, 128523772: 128523772
15 GLE1 NM_001003722.1(GLE1): c.1000G> A (p.Glu334Lys) single nucleotide variant Benign/Likely benign rs138310419 GRCh38 Chromosome 9, 128525294: 128525294
16 GLE1 NM_001003722.1(GLE1): c.1000G> A (p.Glu334Lys) single nucleotide variant Benign/Likely benign rs138310419 GRCh37 Chromosome 9, 131287573: 131287573
17 GLE1 NM_001003722.1(GLE1): c.679C> T (p.Arg227Cys) single nucleotide variant Uncertain significance rs146025848 GRCh37 Chromosome 9, 131285907: 131285907
18 GLE1 NM_001003722.1(GLE1): c.679C> T (p.Arg227Cys) single nucleotide variant Uncertain significance rs146025848 GRCh38 Chromosome 9, 128523628: 128523628
19 GLE1 NM_001003722.1(GLE1): c.5C> G (p.Pro2Arg) single nucleotide variant Uncertain significance rs150246404 GRCh37 Chromosome 9, 131267089: 131267089
20 GLE1 NM_001003722.1(GLE1): c.5C> G (p.Pro2Arg) single nucleotide variant Uncertain significance rs150246404 GRCh38 Chromosome 9, 128504810: 128504810
21 GLE1 NM_001003722.1(GLE1): c.1393T> A (p.Ser465Thr) single nucleotide variant Uncertain significance rs141709685 GRCh37 Chromosome 9, 131295872: 131295872
22 GLE1 NM_001003722.1(GLE1): c.1393T> A (p.Ser465Thr) single nucleotide variant Uncertain significance rs141709685 GRCh38 Chromosome 9, 128533593: 128533593
23 GLE1 NM_001003722.1(GLE1): c.-51G> A single nucleotide variant Uncertain significance rs527886091 GRCh37 Chromosome 9, 131267034: 131267034
24 GLE1 NM_001003722.1(GLE1): c.-51G> A single nucleotide variant Uncertain significance rs527886091 GRCh38 Chromosome 9, 128504755: 128504755
25 GLE1 NM_001003722.1(GLE1): c.-45T> C single nucleotide variant Uncertain significance rs372008961 GRCh37 Chromosome 9, 131267040: 131267040
26 GLE1 NM_001003722.1(GLE1): c.-45T> C single nucleotide variant Uncertain significance rs372008961 GRCh38 Chromosome 9, 128504761: 128504761
27 GLE1 NM_001003722.1(GLE1): c.433-15A> C single nucleotide variant Uncertain significance rs752897261 GRCh37 Chromosome 9, 131284932: 131284932
28 GLE1 NM_001003722.1(GLE1): c.433-15A> C single nucleotide variant Uncertain significance rs752897261 GRCh38 Chromosome 9, 128522653: 128522653
29 GLE1 NM_001003722.1(GLE1): c.*387C> G single nucleotide variant Likely benign rs78624767 GRCh37 Chromosome 9, 131303836: 131303836
30 GLE1 NM_001003722.1(GLE1): c.*387C> G single nucleotide variant Likely benign rs78624767 GRCh38 Chromosome 9, 128541557: 128541557
31 GLE1 NM_001003722.1(GLE1): c.*390C> T single nucleotide variant Uncertain significance rs886063491 GRCh37 Chromosome 9, 131303839: 131303839
32 GLE1 NM_001003722.1(GLE1): c.*390C> T single nucleotide variant Uncertain significance rs886063491 GRCh38 Chromosome 9, 128541560: 128541560
33 GLE1 NM_001003722.1(GLE1): c.*933A> C single nucleotide variant Uncertain significance rs537244282 GRCh37 Chromosome 9, 131304382: 131304382
34 GLE1 NM_001003722.1(GLE1): c.*933A> C single nucleotide variant Uncertain significance rs537244282 GRCh38 Chromosome 9, 128542103: 128542103
35 GLE1 NM_001003722.1(GLE1): c.-108C> A single nucleotide variant Uncertain significance rs545478697 GRCh37 Chromosome 9, 131266977: 131266977
36 GLE1 NM_001003722.1(GLE1): c.-108C> A single nucleotide variant Uncertain significance rs545478697 GRCh38 Chromosome 9, 128504698: 128504698
37 GLE1 NM_001003722.1(GLE1): c.749C> T (p.Ala250Val) single nucleotide variant Uncertain significance rs886063489 GRCh37 Chromosome 9, 131285977: 131285977
38 GLE1 NM_001003722.1(GLE1): c.749C> T (p.Ala250Val) single nucleotide variant Uncertain significance rs886063489 GRCh38 Chromosome 9, 128523698: 128523698
39 GLE1 NM_001003722.1(GLE1): c.2028+15G> A single nucleotide variant Uncertain significance rs886063490 GRCh37 Chromosome 9, 131302632: 131302632
40 GLE1 NM_001003722.1(GLE1): c.2028+15G> A single nucleotide variant Uncertain significance rs886063490 GRCh38 Chromosome 9, 128540353: 128540353
41 GLE1 NM_001003722.1(GLE1): c.*640C> T single nucleotide variant Uncertain significance rs575049150 GRCh37 Chromosome 9, 131304089: 131304089
42 GLE1 NM_001003722.1(GLE1): c.*640C> T single nucleotide variant Uncertain significance rs575049150 GRCh38 Chromosome 9, 128541810: 128541810
43 GLE1 NM_001003722.1(GLE1): c.-81C> T single nucleotide variant Uncertain significance rs56214514 GRCh37 Chromosome 9, 131267004: 131267004
44 GLE1 NM_001003722.1(GLE1): c.-81C> T single nucleotide variant Uncertain significance rs56214514 GRCh38 Chromosome 9, 128504725: 128504725
45 GLE1 NM_001003722.1(GLE1): c.54C> G (p.Asp18Glu) single nucleotide variant Uncertain significance rs549769200 GRCh37 Chromosome 9, 131267138: 131267138
46 GLE1 NM_001003722.1(GLE1): c.54C> G (p.Asp18Glu) single nucleotide variant Uncertain significance rs549769200 GRCh38 Chromosome 9, 128504859: 128504859
47 GLE1 NM_001003722.1(GLE1): c.*111T> C single nucleotide variant Uncertain significance rs567740764 GRCh37 Chromosome 9, 131303560: 131303560
48 GLE1 NM_001003722.1(GLE1): c.*111T> C single nucleotide variant Uncertain significance rs567740764 GRCh38 Chromosome 9, 128541281: 128541281
49 GLE1 NM_001003722.1(GLE1): c.-84A> C single nucleotide variant Uncertain significance rs886063488 GRCh37 Chromosome 9, 131267001: 131267001
50 GLE1 NM_001003722.1(GLE1): c.-84A> C single nucleotide variant Uncertain significance rs886063488 GRCh38 Chromosome 9, 128504722: 128504722

Expression for Congenital Arthrogryposis with Anterior Horn Cell Disease

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

Pathways for Congenital Arthrogryposis with Anterior Horn Cell Disease

GO Terms for Congenital Arthrogryposis with Anterior Horn Cell Disease

Sources for Congenital Arthrogryposis with Anterior Horn Cell Disease

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