MCID: ART104
MIFTS: 26

Arthrogryposis, Distal, Type 5d

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

Aliases & Classifications for Arthrogryposis, Distal, Type 5d

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

Name: Arthrogryposis, Distal, Type 5d 57 29 13 6 40 73
Da5d 57 53 59 75
Distal Arthrogryposis Type 5 Without Ophthalmoparesis 53 59
Distal Arthrogryposis Type 5 Without Ophthalmoplegia 53 59
Distal Arthrogryposis Type 5d 53 59
Arthrogryposis, Distal, 5d 75

Characteristics:

Orphanet epidemiological data:

59
distal arthrogryposis type 5d
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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 : 57 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 torticollis An important gene associated with Arthrogryposis, Distal, Type 5d is ECEL1 (Endothelin Converting Enzyme Like 1). Affiliated tissues include tongue, and related phenotypes are short neck and scoliosis

UniProtKB/Swiss-Prot : 75 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:

57
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:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 short neck 32 HP:0000470
2 scoliosis 32 occasional (7.5%) HP:0002650
3 hyperlordosis 32 occasional (7.5%) HP:0003307
4 anteverted nares 32 HP:0000463
5 short stature 32 HP:0004322
6 decreased muscle mass 32 HP:0003199
7 cleft palate 32 occasional (7.5%) HP:0000175
8 micrognathia 32 HP:0000347
9 arthrogryposis multiplex congenita 32 HP:0002804
10 hip dislocation 32 occasional (7.5%) HP:0002827
11 round face 32 HP:0000311
12 bulbous nose 32 HP:0000414
13 talipes equinovarus 32 occasional (7.5%) HP:0001762
14 adducted thumb 32 HP:0001181
15 highly arched eyebrow 32 HP:0002553
16 furrowed tongue 32 HP:0000221
17 hypoplastic labia majora 32 occasional (7.5%) HP:0000059
18 camptodactyly 32 HP:0012385
19 elbow flexion contracture 32 HP:0002987
20 calcaneovalgus deformity 32 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 29 ECEL1

Anatomical Context for Arthrogryposis, Distal, Type 5d

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

41
Tongue

Publications for Arthrogryposis, Distal, Type 5d

Articles related to Arthrogryposis, Distal, Type 5d:

# Title Authors Year
1
Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1. ( 24782201 )
2014
2
Distal arthrogryposis type 5D with a novel ECEL1 gene mutation. ( 25099528 )
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:

75
# 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 42)
# 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.716dupA (p.Tyr239Terfs) duplication Pathogenic rs587776917 GRCh38 Chromosome 2, 232485938: 232485938
3 ECEL1 NM_004826.3(ECEL1): c.344_355delACCTGGACGCCA (p.Asn115_Ala118del) deletion Pathogenic rs587776918 GRCh37 Chromosome 2, 233351009: 233351020
4 ECEL1 NM_004826.3(ECEL1): c.344_355delACCTGGACGCCA (p.Asn115_Ala118del) deletion Pathogenic rs587776918 GRCh38 Chromosome 2, 232486299: 232486310
5 ECEL1 NM_004826.3(ECEL1): c.1252C> A (p.Arg418Ser) single nucleotide variant Pathogenic rs587776919 GRCh37 Chromosome 2, 233348866: 233348866
6 ECEL1 NM_004826.3(ECEL1): c.1252C> A (p.Arg418Ser) single nucleotide variant Pathogenic rs587776919 GRCh38 Chromosome 2, 232484156: 232484156
7 ECEL1 NM_004826.3(ECEL1): c.1184+3A> T single nucleotide variant Pathogenic rs587776920 GRCh37 Chromosome 2, 233349179: 233349179
8 ECEL1 NM_004826.3(ECEL1): c.1184+3A> T single nucleotide variant Pathogenic rs587776920 GRCh38 Chromosome 2, 232484469: 232484469
9 ECEL1 NM_004826.3(ECEL1): c.1252C> T (p.Arg418Cys) single nucleotide variant Pathogenic rs587776919 GRCh37 Chromosome 2, 233348866: 233348866
10 ECEL1 NM_004826.3(ECEL1): c.1252C> T (p.Arg418Cys) single nucleotide variant Pathogenic rs587776919 GRCh38 Chromosome 2, 232484156: 232484156
11 ECEL1 NM_004826.3(ECEL1): c.590G> A (p.Gly197Asp) single nucleotide variant Pathogenic rs587776921 GRCh37 Chromosome 2, 233350774: 233350774
12 ECEL1 NM_004826.3(ECEL1): c.590G> A (p.Gly197Asp) single nucleotide variant Pathogenic rs587776921 GRCh38 Chromosome 2, 232486064: 232486064
13 ECEL1 NM_004826.3(ECEL1): c.2278T> C (p.Cys760Arg) single nucleotide variant Pathogenic rs587777129 GRCh37 Chromosome 2, 233344913: 233344913
14 ECEL1 NM_004826.3(ECEL1): c.2278T> C (p.Cys760Arg) single nucleotide variant Pathogenic rs587777129 GRCh38 Chromosome 2, 232480203: 232480203
15 ECEL1 NM_004826.3(ECEL1): c.1649C> G (p.Ser550Ter) single nucleotide variant Pathogenic rs587777130 GRCh37 Chromosome 2, 233347597: 233347597
16 ECEL1 NM_004826.3(ECEL1): c.1649C> G (p.Ser550Ter) single nucleotide variant Pathogenic rs587777130 GRCh38 Chromosome 2, 232482887: 232482887
17 ECEL1 NM_004826.3(ECEL1): c.1685+1G> T single nucleotide variant Pathogenic rs587777131 GRCh37 Chromosome 2, 233347560: 233347560
18 ECEL1 NM_004826.3(ECEL1): c.1685+1G> T single nucleotide variant Pathogenic rs587777131 GRCh38 Chromosome 2, 232482850: 232482850
19 ECEL1 NM_004826.3(ECEL1): c.2023G> A (p.Ala675Thr) single nucleotide variant Pathogenic rs606231471 GRCh38 Chromosome 2, 232481123: 232481123
20 ECEL1 NM_004826.3(ECEL1): c.2023G> A (p.Ala675Thr) single nucleotide variant Pathogenic rs606231471 GRCh37 Chromosome 2, 233345833: 233345833
21 ECEL1 NM_004826.3(ECEL1): c.1210C> T (p.Arg404Cys) single nucleotide variant Pathogenic rs532757890 GRCh37 Chromosome 2, 233348908: 233348908
22 ECEL1 NM_004826.3(ECEL1): c.1210C> T (p.Arg404Cys) single nucleotide variant Pathogenic rs532757890 GRCh38 Chromosome 2, 232484198: 232484198
23 ECEL1 NM_004826.3(ECEL1): c.997C> T (p.Arg333Ter) single nucleotide variant Pathogenic rs370167241 GRCh38 Chromosome 2, 232484863: 232484863
24 ECEL1 NM_004826.3(ECEL1): c.997C> T (p.Arg333Ter) single nucleotide variant Pathogenic rs370167241 GRCh37 Chromosome 2, 233349573: 233349573
25 ECEL1 NM_004826.3(ECEL1): c.1184G> A (p.Arg395Gln) single nucleotide variant Pathogenic rs765430577 GRCh37 Chromosome 2, 233349182: 233349182
26 ECEL1 NM_004826.3(ECEL1): c.1184G> A (p.Arg395Gln) single nucleotide variant Pathogenic rs765430577 GRCh38 Chromosome 2, 232484472: 232484472
27 ECEL1 NM_004826.3(ECEL1): c.869A> G (p.Tyr290Cys) single nucleotide variant no interpretation for the single variant rs878853117 GRCh37 Chromosome 2, 233349788: 233349788
28 ECEL1 NM_004826.3(ECEL1): c.869A> G (p.Tyr290Cys) single nucleotide variant no interpretation for the single variant rs878853117 GRCh38 Chromosome 2, 232485078: 232485078
29 ECEL1 NM_004826.3(ECEL1): c.797_801delATGGGinsGCT (p.Asp266Glyfs) indel no interpretation for the single variant rs878853118 GRCh37 Chromosome 2, 233349963: 233349967
30 ECEL1 NM_004826.3(ECEL1): c.797_801delATGGGinsGCT (p.Asp266Glyfs) indel no interpretation for the single variant rs878853118 GRCh38 Chromosome 2, 232485253: 232485257
31 ECEL1 NM_004826.3(ECEL1): c.1470G> A (p.Trp490Ter) single nucleotide variant Pathogenic rs149459910 GRCh38 Chromosome 2, 232483452: 232483452
32 ECEL1 NM_004826.3(ECEL1): c.1470G> A (p.Trp490Ter) single nucleotide variant Pathogenic rs149459910 GRCh37 Chromosome 2, 233348162: 233348162
33 ECEL1 NM_004826.3(ECEL1): c.1797-8G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 232481857: 232481857
34 ECEL1 NM_004826.3(ECEL1): c.1797-8G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 233346567: 233346567
35 ECEL1 NM_004826.3(ECEL1): c.1209G> T (p.Trp403Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 233348909: 233348909
36 ECEL1 NM_004826.3(ECEL1): c.1209G> T (p.Trp403Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 232484199: 232484199
37 ECEL1 NM_004826.3(ECEL1): c.509delG (p.Gly170Valfs) deletion Pathogenic GRCh38 Chromosome 2, 232486145: 232486145
38 ECEL1 NM_004826.3(ECEL1): c.509delG (p.Gly170Valfs) deletion Pathogenic GRCh37 Chromosome 2, 233350855: 233350855
39 ECEL1 NM_004826.3(ECEL1): c.110_155del46 (p.Phe37Cysfs) deletion Pathogenic GRCh38 Chromosome 2, 232486499: 232486544
40 ECEL1 NM_004826.3(ECEL1): c.110_155del46 (p.Phe37Cysfs) deletion Pathogenic GRCh37 Chromosome 2, 233351209: 233351254
41 ECEL1 NM_004826.3(ECEL1): c.2151+2T> A single nucleotide variant Pathogenic rs762979130 GRCh37 Chromosome 2, 233345426: 233345426
42 ECEL1 NM_004826.3(ECEL1): c.2151+2T> A single nucleotide variant Pathogenic rs762979130 GRCh38 Chromosome 2, 232480716: 232480716

Expression for Arthrogryposis, Distal, Type 5d

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Pathways for Arthrogryposis, Distal, Type 5d

GO Terms for Arthrogryposis, Distal, Type 5d

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