Distal Arthrogryposis Type 5d

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.

Genes related to Distal Arthrogryposis Type 5d

ECEL1

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Clinical Features

Top most frequent phenotypes and symptoms related to Distal Arthrogryposis Type 5d

Short stature
Scoliosis
Micrognathia
Cleft palate
Ptosis
Flexion contracture
Skeletal muscle atrophy
Downslanted palpebral fissures
Talipes equinovarus
Anteverted nares

And another 29 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Distal Arthrogryposis Type 5d Is also known as distal arthrogryposis type 5 without ophthalmoparesis, da5d, distal arthrogryposis type 5 without ophthalmoplegia.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Distal Arthrogryposis Type 5d Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Contractures Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...) View the complete list with 37 more genes Panel complete gene list SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, SCARF2, SLC39A13, CNTN1, ANTXR2, COL3A1, ALG2, ADCY6, CHST14, ZC4H2, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42, ERBB3, ERCC6, FBN1, FBN2, GLE1, RIPK4, LMNA, MUSK, MYBPC1, MYH2, MYH3, MYH8, NEB, CNTNAP1, CHMP1A, PIP5K1C, PITX1, PLOD2, PLOD3, PSMB8, RAPSN Specificity 2 % Genes 100 %
Distal Arthrogryposis Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). TNNI2, TNNT3, TPM2, NALCN, CHST14, PIEZO2, ECEL1, FBN2, MYBPC1, MYH3, MYH8 Specificity 10 % Genes 100 %
Distal Arthrogryposis Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). TNNI2, TNNT3, TPM2, NALCN, CHST14, PIEZO2, ECEL1, FBN2, MYBPC1, MYH3, MYH8 Specificity 10 % Genes 100 %
Distal arthrogryposis type 5D (sequence analysis of ECEL1 gene). By CGC Genetics (Portugal). ECEL1 Specificity 100 % Genes 100 %
Distal Arthrogryposis Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). TNNI2, TNNT3, TPM2, NALCN, CHST14, PIEZO2, ECEL1, FBN2, MYBPC1, MYH3, MYH8 Specificity 10 % Genes 100 %
Distal Arthrogryposis, Autosomal Recessive, Type 5D (DA5D) via ECEL1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ECEL1 Specificity 100 % Genes 100 %
Comprehensive Neuromuscular Sequencing Panel. By PreventionGenetics PreventionGenetics (United States). RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, SQSTM1, STIM1, SYT2, TCAP, TIA1, TNNI2, TNNT1, TNNT3, TPM2, TPM3, MYOT, TTN , (...) View the complete list with 104 more genes Panel complete gene list RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, SQSTM1, STIM1, SYT2, TCAP, TIA1, TNNI2, TNNT1, TNNT3, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1, CACNA1S, CCDC78, CAPN3, DNAJB6, CAV3, MICU1, B4GAT1, LDB3, SELENON, LIMS2, TRIM32, KLHL41, SYNE1, TNPO3, BICD2, FKRP, MYO18B, KLHL9, CFL2, CHAT, POMGNT1, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, POMT2, CLCN1, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, GMPPB, ALG2, GNE, CRYAB, SIL1, TRAPPC11, POMGNT2, POMK, DOK7, ANO5, DES, ALG14, STAC3, TMEM43, B3GALNT2, SMCHD1, DMD, TOR1AIP1, MEGF10, DNM2, ISCU, DPAGT1, DPM1, DPM2, DPM3, PREPL, KLHL40, PNPLA2, DYSF, ECEL1, AGL, AGRN, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, GBE1, GFPT1, GLE1, HNRNPA1, HNRNPA2B1, HNRNPDL, ITGA7, LAMA2, LARGE1, LMNA, LMOD3, MATR3, MTM1, MUSK, MYH2, MYH3, MYH7, NEB, ATP2A1, PFKM, PLEC, POMT1, BAG3, CAVIN1, PYGM, RAPSN Specificity 1 % Genes 100 %
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ROBO3, SALL4, KIF21A, CHN1, TUBB3, TUBB2B, ECEL1, HOXA1, HOXB1, PHOX2A Specificity 10 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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