DA5D
MCID: ART104
MIFTS: 30

Arthrogryposis, Distal, Type 5d (DA5D)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Arthrogryposis, Distal, Type 5d

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

Name: Arthrogryposis, Distal, Type 5d 57 13 40 72
Distal Arthrogryposis Type 5d 53 59 29 6
Da5d 57 53 59 74
Distal Arthrogryposis Type 5 Without Ophthalmoparesis 53 59
Distal Arthrogryposis Type 5 Without Ophthalmoplegia 53 59
Arthrogryposis, Distal, 5d 74

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:



External Ids:

MeSH 44 D001176
ICD10 via Orphanet 34 Q68.8
Orphanet 59 ORPHA329457
UMLS 72 C3554415

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 distal arthrogryposis type 5d, is related to alkuraya-kucinskas syndrome and 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 scoliosis and hyperlordosis

UniProtKB/Swiss-Prot : 74 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

Graphical network of the top 20 diseases related to Arthrogryposis, Distal, Type 5d:



Diseases related to Arthrogryposis, Distal, Type 5d

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 5d

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

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 scoliosis 32 occasional (7.5%) HP:0002650
2 hyperlordosis 32 occasional (7.5%) HP:0003307
3 cleft palate 32 occasional (7.5%) HP:0000175
4 talipes equinovarus 32 occasional (7.5%) HP:0001762
5 hip dislocation 32 occasional (7.5%) HP:0002827
6 hypoplastic labia majora 32 occasional (7.5%) HP:0000059
7 calcaneovalgus deformity 32 occasional (7.5%) HP:0001848
8 short neck 32 HP:0000470
9 ptosis 32 HP:0000508
10 anteverted nares 32 HP:0000463
11 short stature 32 HP:0004322
12 decreased muscle mass 32 HP:0003199
13 micrognathia 32 HP:0000347
14 highly arched eyebrow 32 HP:0002553
15 elbow flexion contracture 32 HP:0002987
16 arthrogryposis multiplex congenita 32 HP:0002804
17 round face 32 HP:0000311
18 bulbous nose 32 HP:0000414
19 adducted thumb 32 HP:0001181
20 furrowed tongue 32 HP:0000221
21 camptodactyly 32 HP:0012385

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)

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

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

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

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

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

Clinical features from OMIM:

615065

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 Distal Arthrogryposis 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 PMID Year
1
Mutations in ECEL1 cause distal arthrogryposis type 5D. 38 8 71
23261301 2013
2
Distal arthrogryposis type 5D with a novel ECEL1 gene mutation. 8 71
25099528 2014
3
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. 8 71
23236030 2013
4
ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects. 38
30131190 2018
5
Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D. 38
23829171 2014

Variations for Arthrogryposis, Distal, Type 5d

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

6 (show all 23)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ECEL1 NM_004826.4(ECEL1): c.509del (p.Gly170fs) deletion Pathogenic rs1553567937 2:233350855-233350855 2:232486145-232486145
2 ECEL1 NM_004826.4(ECEL1): c.110_155del (p.Phe37fs) deletion Pathogenic rs1341894581 2:233351209-233351254 2:232486499-232486544
3 ECEL1 NM_004826.4(ECEL1): c.2151+2T> A single nucleotide variant Pathogenic rs762979130 2:233345426-233345426 2:232480716-232480716
4 ECEL1 NM_004826.4(ECEL1): c.716dup (p.Tyr239Ter) duplication Pathogenic rs587776917 2:233350648-233350648 2:232485938-232485938
5 ECEL1 NM_004826.4(ECEL1): c.344_355del (p.Asn115_Ala118del) deletion Pathogenic rs587776918 2:233351009-233351020 2:232486299-232486310
6 ECEL1 NM_004826.4(ECEL1): c.1252C> A (p.Arg418Ser) single nucleotide variant Pathogenic rs587776919 2:233348866-233348866 2:232484156-232484156
7 ECEL1 NM_004826.4(ECEL1): c.1184+3A> T single nucleotide variant Pathogenic rs587776920 2:233349179-233349179 2:232484469-232484469
8 ECEL1 NM_004826.4(ECEL1): c.1252C> T (p.Arg418Cys) single nucleotide variant Pathogenic rs587776919 2:233348866-233348866 2:232484156-232484156
9 ECEL1 NM_004826.4(ECEL1): c.590G> A (p.Gly197Asp) single nucleotide variant Pathogenic rs587776921 2:233350774-233350774 2:232486064-232486064
10 ECEL1 NM_004826.4(ECEL1): c.2278T> C (p.Cys760Arg) single nucleotide variant Pathogenic rs587777129 2:233344913-233344913 2:232480203-232480203
11 ECEL1 NM_004826.4(ECEL1): c.1649C> G (p.Ser550Ter) single nucleotide variant Pathogenic rs587777130 2:233347597-233347597 2:232482887-232482887
12 ECEL1 NM_004826.4(ECEL1): c.1685+1G> T single nucleotide variant Pathogenic rs587777131 2:233347560-233347560 2:232482850-232482850
13 ECEL1 NM_004826.4(ECEL1): c.1210C> T (p.Arg404Cys) single nucleotide variant Pathogenic rs532757890 2:233348908-233348908 2:232484198-232484198
14 ECEL1 NM_004826.4(ECEL1): c.997C> T (p.Arg333Ter) single nucleotide variant Pathogenic rs370167241 2:233349573-233349573 2:232484863-232484863
15 ECEL1 NM_004826.4(ECEL1): c.1470G> A (p.Trp490Ter) single nucleotide variant Pathogenic rs149459910 2:233348162-233348162 2:232483452-232483452
16 ECEL1 NM_004826.4(ECEL1): c.1184G> A (p.Arg395Gln) single nucleotide variant Pathogenic rs765430577 2:233349182-233349182 2:232484472-232484472
17 ECEL1 NM_004826.4(ECEL1): c.2023G> A (p.Ala675Thr) single nucleotide variant Pathogenic rs606231471 2:233345833-233345833 2:232481123-232481123
18 ECEL1 NM_004826.4(ECEL1): c.1797-8G> A single nucleotide variant Likely pathogenic rs1553566820 2:233346567-233346567 2:232481857-232481857
19 ECEL1 NM_004826.4(ECEL1): c.1209G> T (p.Trp403Cys) single nucleotide variant Likely pathogenic rs1553567411 2:233348909-233348909 2:232484199-232484199
20 ECEL1 NM_004826.4(ECEL1): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic 2:233351363-233351363 2:232486653-232486653
21 ECEL1 NM_004826.4(ECEL1): c.1990-3C> G single nucleotide variant Likely pathogenic 2:233345869-233345869 2:232481159-232481159
22 ECEL1 NM_004826.4(ECEL1): c.869A> G (p.Tyr290Cys) single nucleotide variant no interpretation for the single variant rs878853117 2:233349788-233349788 2:232485078-232485078
23 ECEL1 NM_004826.4(ECEL1): c.797_801delinsGCT (p.Asp266fs) indel no interpretation for the single variant rs878853118 2:233349963-233349967 2:232485253-232485257

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

74
# 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

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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