MCID: ART104
MIFTS: 28

Arthrogryposis, Distal, Type 5d

Categories: Genetic diseases, Rare diseases, Muscle diseases, Fetal diseases, Oral diseases, Bone diseases, Ear diseases

Aliases & Classifications for Arthrogryposis, Distal, Type 5d

MalaCards integrated aliases for Arthrogryposis, Distal, Type 5d:

Name: Arthrogryposis, Distal, Type 5d 53 28 13 69
Da5d 53 49 55 71
Distal Arthrogryposis Type 5 Without Ophthalmoparesis 49 55
Distal Arthrogryposis Type 5 Without Ophthalmoplegia 49 55
Distal Arthrogryposis Type 5d 49 55
Arthrogryposis, Distal, 5d 71

Characteristics:

Orphanet epidemiological data:

55
distal arthrogryposis type 5d
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
patients do not exhibit ophthalmoplegia


HPO:

31
arthrogryposis, distal, type 5d:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Arthrogryposis, Distal, Type 5d

OMIM : 53 This autosomal recessive form of distal arthrogryposis, designated DA5D by McMillin et al. (2013), is characterized by severe camptodactyly of the hands, including adducted thumbs and wrists; mild camptodactyly of the toes; clubfoot and/or a calcaneovalgus deformity; extension contractures of the knee; unilateral ptosis or ptosis that is more severe on one side; a round-shaped face; arched eyebrows; a bulbous, upturned nose; and micrognathia. Notably, these patients do not have ophthalmoplegia. For a general phenotypic description and discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120). For discussion of genetic heterogeneity of distal arthrogryposis type 5, see DA5 (108145). (615065)

MalaCards based summary : Arthrogryposis, Distal, Type 5d, also known as da5d, is related to arthrogryposis multiplex congenita, neurogenic, with myelin defect and distal arthrogryposis, and has symptoms including short neck, scoliosis and hyperlordosis. An important gene associated with Arthrogryposis, Distal, Type 5d is ECEL1 (Endothelin Converting Enzyme Like 1). Affiliated tissues include tongue.

UniProtKB/Swiss-Prot : 71 Arthrogryposis, distal, 5D: An autosomal recessive form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA5D is characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, clubfoot and/or a calcaneovalgus deformity, extension contractures of the knee, unilateral ptosis or ptosis that is more severe on one side, a round- shaped face, arched eyebrows, a bulbous upturned nose, and micrognathia. Patients do not have ophthalmoplegia.

Related Diseases for Arthrogryposis, Distal, Type 5d

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 5d

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Neck:
short neck
neck contractures

Head And Neck Face:
micrognathia
round face
diminished facial expression

Head And Neck Mouth:
furrowed tongue
cleft palate (in some patients)
central tongue atrophy (in some patients)

Head And Neck Eyes:
arched eyebrows
ptosis, unilateral or more severe on one side
lagophthalmos (rare)
pseudoexophthalmos (rare)

Genitourinary External Genitalia Female:
hypoplastic labia majora (in some patients)

Skeletal Spine:
scoliosis, mild to severe (in some patients)
hyperlordosis (in some patients)

Skin Nails Hair Skin:
pterygia of neck (in some patients)
pterygia of axillae (in some patients)
pterygia of elbows (in some patients)
pterygia of groin (in some patients)

Prenatal Manifestations Movement:
diminished fetal movements (in some patients)

Growth Height:
short stature

Head And Neck Nose:
bulbous nose
upturned nose

Skeletal Hands:
adducted thumbs
severe camptodactyly
adducted wrists
relative sparing of index finger (in some patients)

Skeletal Limbs:
contractures of elbows
contractures of shoulders
contractures of wrists
extension contractures of knees
relative sparing of upper extremities (in some patients)

Skeletal Feet:
clubfoot (in some patients)
camptodactyly, mild
calcaneovalgus deformity

Skeletal Pelvis:
dislocated hips, bilateral (in some patients)

Muscle Soft Tissue:
decreased muscle mass (predominantly in lower extremities)


Clinical features from OMIM:

615065

Human phenotypes related to Arthrogryposis, Distal, Type 5d:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 short neck 31 HP:0000470
2 scoliosis 31 occasional (7.5%) HP:0002650
3 hyperlordosis 31 occasional (7.5%) HP:0003307
4 anteverted nares 31 HP:0000463
5 short stature 31 HP:0004322
6 decreased muscle mass 31 HP:0003199
7 cleft palate 31 occasional (7.5%) HP:0000175
8 micrognathia 31 HP:0000347
9 arthrogryposis multiplex congenita 31 HP:0002804
10 hip dislocation 31 occasional (7.5%) HP:0002827
11 round face 31 HP:0000311
12 bulbous nose 31 HP:0000414
13 talipes equinovarus 31 occasional (7.5%) HP:0001762
14 adducted thumb 31 HP:0001181
15 highly arched eyebrow 31 HP:0002553
16 furrowed tongue 31 HP:0000221
17 hypoplastic labia majora 31 occasional (7.5%) HP:0000059
18 camptodactyly 31 HP:0012385
19 elbow flexion contracture 31 HP:0002987
20 calcaneovalgus deformity 31 occasional (7.5%) HP:0001848

UMLS symptoms related to Arthrogryposis, Distal, Type 5d:


torticollis

Drugs & Therapeutics for Arthrogryposis, Distal, Type 5d

Search Clinical Trials , NIH Clinical Center for Arthrogryposis, Distal, Type 5d

Genetic Tests for Arthrogryposis, Distal, Type 5d

Genetic tests related to Arthrogryposis, Distal, Type 5d:

# Genetic test Affiliating Genes
1 Arthrogryposis, Distal, Type 5d 28 ECEL1

Anatomical Context for Arthrogryposis, Distal, Type 5d

MalaCards organs/tissues related to Arthrogryposis, Distal, Type 5d:

38
Tongue

Publications for Arthrogryposis, Distal, Type 5d

Articles related to Arthrogryposis, Distal, Type 5d:

# Title Authors Year
1
Distal arthrogryposis type 5D with a novel ECEL1 gene mutation. ( 25099528 )
2014
2
Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1. ( 24782201 )
2014
3
Mutations in ECEL1 cause distal arthrogryposis type 5D. ( 23261301 )
2013
4
Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D. ( 23829171 )
2013

Variations for Arthrogryposis, Distal, Type 5d

UniProtKB/Swiss-Prot genetic disease variations for Arthrogryposis, Distal, Type 5d:

71
# Symbol AA change Variation ID SNP ID
1 ECEL1 p.Arg418Ser VAR_069747 rs587776919
2 ECEL1 p.Arg404Cys VAR_069993 rs532757890
3 ECEL1 p.Gly607Ser VAR_069994
4 ECEL1 p.Cys760Arg VAR_069995 rs587777129

ClinVar genetic disease variations for Arthrogryposis, Distal, Type 5d:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 ECEL1 NM_004826.3(ECEL1): c.716dupA (p.Tyr239Terfs) duplication Pathogenic rs587776917 GRCh37 Chromosome 2, 233350648: 233350648
2 ECEL1 NM_004826.3(ECEL1): c.1252C> A (p.Arg418Ser) single nucleotide variant Pathogenic rs587776919 GRCh37 Chromosome 2, 233348866: 233348866
3 ECEL1 NM_004826.3(ECEL1): c.1252C> T (p.Arg418Cys) single nucleotide variant Pathogenic rs587776919 GRCh37 Chromosome 2, 233348866: 233348866
4 ECEL1 NM_004826.3(ECEL1): c.2278T> C (p.Cys760Arg) single nucleotide variant Pathogenic rs587777129 GRCh37 Chromosome 2, 233344913: 233344913
5 ECEL1 NM_004826.3(ECEL1): c.1649C> G (p.Ser550Ter) single nucleotide variant Pathogenic rs587777130 GRCh37 Chromosome 2, 233347597: 233347597
6 ECEL1 NM_004826.3(ECEL1): c.1685+1G> T single nucleotide variant Pathogenic rs587777131 GRCh37 Chromosome 2, 233347560: 233347560
7 ECEL1 NM_004826.3(ECEL1): c.2023G> A (p.Ala675Thr) single nucleotide variant Pathogenic rs606231471 GRCh38 Chromosome 2, 232481123: 232481123
8 ECEL1 NM_004826.3(ECEL1): c.1210C> T (p.Arg404Cys) single nucleotide variant Pathogenic/Likely pathogenic rs532757890 GRCh38 Chromosome 2, 232484198: 232484198
9 ECEL1 NM_004826.3(ECEL1): c.997C> T (p.Arg333Ter) single nucleotide variant Pathogenic rs370167241 GRCh38 Chromosome 2, 232484863: 232484863
10 ECEL1 NM_004826.3(ECEL1): c.1184G> A (p.Arg395Gln) single nucleotide variant Pathogenic rs765430577 GRCh37 Chromosome 2, 233349182: 233349182
11 ECEL1 NM_004826.3(ECEL1): c.1470G> A (p.Trp490Ter) single nucleotide variant Pathogenic rs149459910 GRCh38 Chromosome 2, 232483452: 232483452
12 ECEL1 NM_004826.3(ECEL1): c.1797-8G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 233346567: 233346567
13 ECEL1 NM_004826.3(ECEL1): c.1209G> T (p.Trp403Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 233348909: 233348909
14 ECEL1 NM_004826.3(ECEL1): c.509delG (p.Gly170Valfs) deletion Pathogenic GRCh38 Chromosome 2, 232486145: 232486145
15 ECEL1 NM_004826.3(ECEL1): c.110_155del46 (p.Phe37Cysfs) deletion Pathogenic GRCh38 Chromosome 2, 232486499: 232486544

Expression for Arthrogryposis, Distal, Type 5d

Search GEO for disease gene expression data for Arthrogryposis, Distal, Type 5d.

Pathways for Arthrogryposis, Distal, Type 5d

GO Terms for Arthrogryposis, Distal, Type 5d

Sources for Arthrogryposis, Distal, Type 5d

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