DA5D
MCID: ART104
MIFTS: 33

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 56 13 39 71
Distal Arthrogryposis Type 5d 12 52 58 29 6
Da5d 56 12 52 58 73
Distal Arthrogryposis Type 5 Without Ophthalmoparesis 12 52 58
Distal Arthrogryposis Type 5 Without Ophthalmoplegia 12 52 58
Arthrogryposis, Distal, 5d 73

Characteristics:

Orphanet epidemiological data:

58
distal arthrogryposis type 5d
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
patients do not exhibit ophthalmoplegia


HPO:

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


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111594
OMIM 56 615065
OMIM Phenotypic Series 56 PS108120
MeSH 43 D001176
SNOMED-CT 67 773396009
ICD10 via Orphanet 33 Q68.8
Orphanet 58 ORPHA329457
UMLS 71 C3554415

Summaries for Arthrogryposis, Distal, Type 5d

OMIM : 56 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 strabismus and autosomal recessive disease, 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, eye and bone, and related phenotypes are scoliosis and hyperlordosis

Disease Ontology : 12 A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has material basis in homozygous or compound heterozygous mutation in ECEL1 on chromosome 2q37.1.

UniProtKB/Swiss-Prot : 73 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:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 occasional (7.5%) HP:0002650
2 hyperlordosis 31 occasional (7.5%) HP:0003307
3 cleft palate 31 occasional (7.5%) HP:0000175
4 talipes equinovarus 31 occasional (7.5%) HP:0001762
5 hip dislocation 31 occasional (7.5%) HP:0002827
6 hypoplastic labia majora 31 occasional (7.5%) HP:0000059
7 calcaneovalgus deformity 31 occasional (7.5%) HP:0001848
8 short neck 31 HP:0000470
9 ptosis 31 HP:0000508
10 short stature 31 HP:0004322
11 micrognathia 31 HP:0000347
12 anteverted nares 31 HP:0000463
13 arthrogryposis multiplex congenita 31 HP:0002804
14 decreased muscle mass 31 HP:0003199
15 highly arched eyebrow 31 HP:0002553
16 elbow flexion contracture 31 HP:0002987
17 round face 31 HP:0000311
18 bulbous nose 31 HP:0000414
19 adducted thumb 31 HP:0001181
20 furrowed tongue 31 HP:0000221
21 camptodactyly 31 HP:0012385

Symptoms via clinical synopsis from OMIM:

56
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:

40
Tongue, Eye, Bone, Skin

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. 61 56 6
23261301 2013
2
Distal arthrogryposis type 5D with a novel ECEL1 gene mutation. 56 6
25099528 2014
3
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. 56 6
23236030 2013
4
Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D). 61
31555621 2019
5
ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects. 61
30131190 2018
6
Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D. 61
23829171 2014

Variations for Arthrogryposis, Distal, Type 5d

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

6 (show all 23) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ECEL1 NM_004826.4(ECEL1):c.2023G>A (p.Ala675Thr)SNV Pathogenic 161451 rs606231471 2:233345833-233345833 2:232481123-232481123
2 ECEL1 NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys)SNV Pathogenic 191152 rs532757890 2:233348908-233348908 2:232484198-232484198
3 ECEL1 NM_004826.4(ECEL1):c.997C>T (p.Arg333Ter)SNV Pathogenic 210910 rs370167241 2:233349573-233349573 2:232484863-232484863
4 ECEL1 NM_004826.4(ECEL1):c.716dup (p.Tyr239Ter)duplication Pathogenic 39488 rs587776917 2:233350647-233350648 2:232485937-232485938
5 ECEL1 NM_004826.4(ECEL1):c.344_355del (p.Asn115_Ala118del)deletion Pathogenic 39489 rs587776918 2:233351009-233351020 2:232486299-232486310
6 ECEL1 NM_004826.4(ECEL1):c.1252C>A (p.Arg418Ser)SNV Pathogenic 39490 rs587776919 2:233348866-233348866 2:232484156-232484156
7 ECEL1 NM_004826.4(ECEL1):c.1184+3A>TSNV Pathogenic 39491 rs587776920 2:233349179-233349179 2:232484469-232484469
8 ECEL1 NM_004826.4(ECEL1):c.1252C>T (p.Arg418Cys)SNV Pathogenic 39492 rs587776919 2:233348866-233348866 2:232484156-232484156
9 ECEL1 NM_004826.4(ECEL1):c.590G>A (p.Gly197Asp)SNV Pathogenic 39493 rs587776921 2:233350774-233350774 2:232486064-232486064
10 ECEL1 NM_004826.4(ECEL1):c.2278T>C (p.Cys760Arg)SNV Pathogenic 100650 rs587777129 2:233344913-233344913 2:232480203-232480203
11 ECEL1 NM_004826.4(ECEL1):c.1649C>G (p.Ser550Ter)SNV Pathogenic 100651 rs587777130 2:233347597-233347597 2:232482887-232482887
12 ECEL1 NM_004826.4(ECEL1):c.1685+1G>TSNV Pathogenic 100652 rs587777131 2:233347560-233347560 2:232482850-232482850
13 ECEL1 NM_004826.4(ECEL1):c.1184G>A (p.Arg395Gln)SNV Pathogenic 235819 rs765430577 2:233349182-233349182 2:232484472-232484472
14 ECEL1 NM_004826.4(ECEL1):c.509del (p.Gly170fs)deletion Pathogenic 435023 rs1553567937 2:233350855-233350855 2:232486145-232486145
15 ECEL1 NM_004826.4(ECEL1):c.110_155del (p.Phe37fs)deletion Pathogenic 435024 rs1341894581 2:233351209-233351254 2:232486499-232486544
16 ECEL1 NM_004826.4(ECEL1):c.2151+2T>ASNV Pathogenic 488495 rs762979130 2:233345426-233345426 2:232480716-232480716
17 ECEL1 NM_004826.4(ECEL1):c.1470G>A (p.Trp490Ter)SNV Pathogenic 374305 rs149459910 2:233348162-233348162 2:232483452-232483452
18 ECEL1 NM_004826.4(ECEL1):c.1797-8G>ASNV Likely pathogenic 435021 rs1553566820 2:233346567-233346567 2:232481857-232481857
19 ECEL1 NM_004826.4(ECEL1):c.1209G>T (p.Trp403Cys)SNV Likely pathogenic 435022 rs1553567411 2:233348909-233348909 2:232484199-232484199
20 ECEL1 NM_004826.4(ECEL1):c.1A>G (p.Met1Val)SNV Likely pathogenic 590922 rs1356994386 2:233351363-233351363 2:232486653-232486653
21 ECEL1 NM_004826.4(ECEL1):c.1990-3C>GSNV Likely pathogenic 599020 rs1229171141 2:233345869-233345869 2:232481159-232481159
22 ECEL1 NM_004826.4(ECEL1):c.869A>G (p.Tyr290Cys)SNV no interpretation for the single variant 242403 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 242402 rs878853118 2:233349963-233349967 2:232485253-232485257

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

73
# 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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72 UMLS via Orphanet
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