MCID: ART104
MIFTS: 24

Arthrogryposis, Distal, Type 5d

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

Aliases & Classifications for Arthrogryposis, Distal, Type 5d

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

Name: Arthrogryposis, Distal, Type 5d 54 24 29 13 69
Da5d 50 24 56 71
Distal Arthrogryposis Type 5 Without Ophthalmoparesis 50 56
Distal Arthrogryposis Type 5 Without Ophthalmoplegia 50 56
Distal Arthrogryposis Type 5d 50 56
Arthrogryposis, Distal, 5d 71

Characteristics:

Orphanet epidemiological data:

56
distal arthrogryposis type 5d
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
patients do not exhibit ophthalmoplegia


HPO:

32
arthrogryposis, distal, type 5d:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Arthrogryposis, Distal, Type 5d

OMIM : 54
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 distal arthrogryposis, and has symptoms including short stature, bulbous nose and micrognathia. 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

Diseases in the Distal Arthrogryposis family:

Arthrogryposis, Distal, Type 10 Arthrogryposis, Distal, Type 5d
Arthrogryposis, Distal, Type 2b Arthrogryposis, Distal, Type 1b
Arthrogryposis, Distal, Type 2a Arthrogryposis, Distal, Type 8
Arthrogryposis, Distal, Type 5 Arthrogryposis, Distal, Type 3
Arthrogryposis, Distal, Type 6 Arthrogryposis, Distal, Type 4

Diseases related to Arthrogryposis, Distal, Type 5d via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 distal arthrogryposis 10.3

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 5d

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

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

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

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

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

Genitourinary- External Genitalia Female:
hypoplastic labia majora (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)

Head And Neck- Nose:
bulbous nose
upturned nose

Head And Neck- Face:
micrognathia
round face
diminished facial expression

Head And Neck- Neck:
short neck
neck contractures

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

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:

32 (show all 18)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 bulbous nose 32 HP:0000414
3 micrognathia 32 HP:0000347
4 round face 32 HP:0000311
5 cleft palate 32 occasional (7.5%) HP:0000175
6 arthrogryposis multiplex congenita 32 HP:0002804
7 anteverted nares 32 HP:0000463
8 hypoplastic labia majora 32 occasional (7.5%) HP:0000059
9 camptodactyly 32 HP:0012385
10 talipes equinovarus 32 occasional (7.5%) HP:0001762
11 short neck 32 HP:0000470
12 elbow flexion contracture 32 HP:0002987
13 hyperlordosis 32 occasional (7.5%) HP:0003307
14 furrowed tongue 32 HP:0000221
15 calcaneovalgus deformity 32 occasional (7.5%) HP:0001848
16 decreased muscle mass 32 HP:0003199
17 adducted thumb 32 HP:0001181
18 highly arched eyebrow 32 HP:0002553

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:

id Genetic test Affiliating Genes
1 Arthrogryposis, Distal, Type 5d 29 24 ECEL1

Anatomical Context for Arthrogryposis, Distal, Type 5d

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

39
Tongue

Publications for Arthrogryposis, Distal, Type 5d

Variations for Arthrogryposis, Distal, Type 5d

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

71
id 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)
id 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 GRCh38 Chromosome 2, 232484472: 232484472
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 GRCh38 Chromosome 2, 232481857: 232481857
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 GRCh37 Chromosome 2, 233350855: 233350855
15 ECEL1 NM_004826.3(ECEL1): c.110_155del46 (p.Phe37Cysfs) deletion Pathogenic GRCh37 Chromosome 2, 233351209: 233351254

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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70 UMLS via Orphanet
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